NM_014363.6(SACS):c.6343C>T (p.His2115Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV000528752] |
Chr13:23337533 [GRCh38] Chr13:23911672 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1483T>A (p.Phe495Ile) |
single nucleotide variant |
Spastic paraplegia [RCV000552873] |
Chr13:23355129 [GRCh38] Chr13:23929268 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.12585A>G (p.Gly4195=) |
single nucleotide variant |
not specified [RCV000518564] |
Chr13:23331291 [GRCh38] Chr13:23905430 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val) |
single nucleotide variant |
not specified [RCV000516513] |
Chr13:23330837 [GRCh38] Chr13:23904976 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8356G>C (p.Asp2786His) |
single nucleotide variant |
not specified [RCV000516762] |
Chr13:23335520 [GRCh38] Chr13:23909659 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala) |
single nucleotide variant |
not specified [RCV000518256] |
Chr13:23355093 [GRCh38] Chr13:23929232 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8693G>A (p.Arg2898His) |
single nucleotide variant |
Spastic paraplegia [RCV000530318] |
Chr13:23335183 [GRCh38] Chr13:23909322 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) |
single nucleotide variant |
not specified [RCV000516945] |
Chr13:23337610 [GRCh38] Chr13:23911749 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) |
single nucleotide variant |
Spastic paraplegia [RCV000560872]|not specified [RCV000518073] |
Chr13:23334326 [GRCh38] Chr13:23908465 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg) |
single nucleotide variant |
Spastic paraplegia [RCV000527900] |
Chr13:23330302 [GRCh38] Chr13:23904441 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp) |
single nucleotide variant |
not specified [RCV000518824] |
Chr13:23337792 [GRCh38] Chr13:23911931 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.3346G>T (p.Gly1116Cys) |
single nucleotide variant |
not specified [RCV000517613] |
Chr13:23340530 [GRCh38] Chr13:23914669 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) |
single nucleotide variant |
not specified [RCV000517696] |
Chr13:23337540 [GRCh38] Chr13:23911679 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.7737G>A (p.Lys2579=) |
single nucleotide variant |
not specified [RCV000516324] |
Chr13:23336139 [GRCh38] Chr13:23910278 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.9399A>G (p.Lys3133=) |
single nucleotide variant |
Spastic paraplegia [RCV000546063] |
Chr13:23334477 [GRCh38] Chr13:23908616 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) |
duplication |
not provided [RCV000517322] |
Chr13:23338725 [GRCh38] Chr13:23912864 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter) |
single nucleotide variant |
not provided [RCV000144427] |
Chr13:23365209 [GRCh38] Chr13:23939348 [GRCh37] Chr13:13q12.12 |
not provided |
NM_014363.6(SACS):c.5263_5264del (p.Lys1755fs) |
deletion |
not provided [RCV000144428] |
Chr13:23338612..23338613 [GRCh38] Chr13:23912751..23912752 [GRCh37] Chr13:13q12.12 |
not provided |
SACS, 1-BP DEL, 1411T |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000005850] |
Chr13:13q12 |
pathogenic |
SACS, 1-BP INS, 1155A |
insertion |
Spastic ataxia Charlevoix-Saguenay type [RCV000005851] |
Chr13:13q12 |
pathogenic |
NM_014363.6(SACS):c.4033dup (p.Gln1345fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000005853] |
Chr13:23339843 [GRCh38] Chr13:23913982 [GRCh37] Chr13:13q12.12 |
pathogenic |
SACS, 10-BP DEL, NT32627 |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000005856] |
Chr13:13q12 |
pathogenic |
SACS, 1-BP DEL, 31760T |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000005857] |
Chr13:13q12 |
pathogenic |
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr) |
single nucleotide variant |
not provided [RCV000728927] |
Chr13:23339129 [GRCh38] Chr13:23913268 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.2551G>T (p.Val851Phe) |
single nucleotide variant |
Spastic paraplegia [RCV000545527] |
Chr13:23341325 [GRCh38] Chr13:23915464 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys) |
single nucleotide variant |
not specified [RCV000516715] |
Chr13:23358346 [GRCh38] Chr13:23932485 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000765120]|not specified [RCV000516833] |
Chr13:23335561 [GRCh38] Chr13:23909700 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) |
single nucleotide variant |
Spastic paraplegia [RCV000633062]|not provided [RCV000676359]|not specified [RCV000517142] |
Chr13:23336492 [GRCh38] Chr13:23910631 [GRCh37] Chr13:13q12.12 |
benign|likely benign|uncertain significance |
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) |
single nucleotide variant |
not provided [RCV000676353]|not specified [RCV000517432] |
Chr13:23333758 [GRCh38] Chr13:23907897 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.11348A>G (p.Glu3783Gly) |
single nucleotide variant |
not specified [RCV000517570] |
Chr13:23332528 [GRCh38] Chr13:23906667 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) |
single nucleotide variant |
not provided [RCV000521561] |
Chr13:23339644 [GRCh38] Chr13:23913783 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) |
single nucleotide variant |
Spastic paraplegia [RCV000549535]|not provided [RCV000712961] |
Chr13:23331063 [GRCh38] Chr13:23905202 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) |
single nucleotide variant |
not specified [RCV000516475] |
Chr13:23338457 [GRCh38] Chr13:23912596 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala) |
single nucleotide variant |
Spastic paraplegia [RCV000633011]|not specified [RCV000518436] |
Chr13:23333201 [GRCh38] Chr13:23907340 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter) |
single nucleotide variant |
Spastic paraplegia [RCV000549870] |
Chr13:23332937 [GRCh38] Chr13:23907076 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) |
single nucleotide variant |
Spastic paraplegia [RCV000820462]|not specified [RCV000518481] |
Chr13:23341274 [GRCh38] Chr13:23915413 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp) |
single nucleotide variant |
not specified [RCV000516711] |
Chr13:23335040 [GRCh38] Chr13:23909179 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.110G>A (p.Arg37His) |
single nucleotide variant |
not specified [RCV000522808] |
Chr13:23375180 [GRCh38] Chr13:23949319 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.11901A>G (p.Gln3967=) |
single nucleotide variant |
not specified [RCV000517047] |
Chr13:23331975 [GRCh38] Chr13:23906114 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) |
single nucleotide variant |
not specified [RCV000517352] |
Chr13:23333254 [GRCh38] Chr13:23907393 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1815A>G (p.Pro605=) |
single nucleotide variant |
not specified [RCV000517470] |
Chr13:23354797 [GRCh38] Chr13:23928936 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.10862T>C (p.Leu3621Ser) |
single nucleotide variant |
not specified [RCV000517616] |
Chr13:23333014 [GRCh38] Chr13:23907153 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.134C>T (p.Pro45Leu) |
single nucleotide variant |
not specified [RCV000518000] |
Chr13:23375156 [GRCh38] Chr13:23949295 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6485A>G (p.Asp2162Gly) |
single nucleotide variant |
not specified [RCV000519608] |
Chr13:23337391 [GRCh38] Chr13:23911530 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8844del (p.Ile2949fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000005847]|Spastic paraplegia [RCV000460039]|not provided [RCV000338359] |
Chr13:23335032 [GRCh38] Chr13:23909171 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000005848] |
Chr13:23336372 [GRCh38] Chr13:23910511 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000005849] |
Chr13:23331656 [GRCh38] Chr13:23905795 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000005852] |
Chr13:23338040 [GRCh38] Chr13:23912179 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000005854] |
Chr13:23334134 [GRCh38] Chr13:23908273 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000005855] |
Chr13:23340715 [GRCh38] Chr13:23914854 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000032007] |
Chr13:23332969 [GRCh38] Chr13:23907108 [GRCh37] Chr13:13q12.12 |
pathogenic|uncertain significance |
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000032008]|not provided [RCV000487627] |
Chr13:23331716 [GRCh38] Chr13:23905855 [GRCh37] Chr13:13q12.12 |
pathogenic|likely pathogenic |
GRCh38/hg38 13q12.12(chr13:22904496-24490885)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051232]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051232]|See cases [RCV000051232] |
Chr13:22904496..24490885 [GRCh38] Chr13:23478635..25065023 [GRCh37] Chr13:22376635..23963023 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.12(chr13:22992823-24316005)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051233]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051233]|See cases [RCV000051233] |
Chr13:22992823..24316005 [GRCh38] Chr13:23566962..24890143 [GRCh37] Chr13:22464962..23788143 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051234]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051234]|See cases [RCV000051234] |
Chr13:22992823..24336605 [GRCh38] Chr13:23566962..24910743 [GRCh37] Chr13:22464962..23808743 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.12(chr13:22992823-24336605)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051235]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051235]|See cases [RCV000051235] |
Chr13:22992823..24336605 [GRCh38] Chr13:23566962..24910743 [GRCh37] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.12(chr13:22941375-24286142)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051307]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051307]|See cases [RCV000051307] |
Chr13:22941375..24286142 [GRCh38] Chr13:23515514..24860280 [GRCh37] Chr13:22413514..23758280 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.12(chr13:22980339-24363444)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051308]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051308]|See cases [RCV000051308] |
Chr13:22980339..24363444 [GRCh38] Chr13:23554478..24937582 [GRCh37] Chr13:22452478..23835582 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.12(chr13:22992623-24336746)x3 |
copy number gain |
Autism [RCV000051309]|See cases [RCV000051309] |
Chr13:22992623..24336746 [GRCh38] Chr13:23566762..24910884 [GRCh37] Chr13:22464762..23808884 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.11-12.12(chr13:19837395-24884509)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|See cases [RCV000052343] |
Chr13:19837395..24884509 [GRCh38] Chr13:20411535..25458647 [GRCh37] Chr13:19309535..24356647 [NCBI36] Chr13:13q12.11-12.12 |
pathogenic |
GRCh38/hg38 13q12.12(chr13:22672788-23489498)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051982]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051982]|See cases [RCV000051982] |
Chr13:22672788..23489498 [GRCh38] Chr13:23246927..24063637 [GRCh37] Chr13:22144927..22961637 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.12(chr13:23172478-23671209)x3 |
copy number gain |
Global developmental delay [RCV000051983]|See cases [RCV000051983] |
Chr13:23172478..23671209 [GRCh38] Chr13:23746617..24245348 [GRCh37] Chr13:22644617..23143348 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.12(chr13:22992823-23499449)x1 |
copy number loss |
Hydronephrosis [RCV000053282]|See cases [RCV000053282] |
Chr13:22992823..23499449 [GRCh38] Chr13:23566962..24073588 [GRCh37] Chr13:22464962..22971588 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053726]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053726]|See cases [RCV000053726] |
Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 |
copy number gain |
Bilateral cleft palate [RCV000053729]|See cases [RCV000053729] |
Chr13:18958091..31090460 [GRCh38] Chr13:19532231..31664597 [GRCh37] Chr13:18430231..30562597 [NCBI36] Chr13:13q12.11-12.3 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053731]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053731]|See cases [RCV000053731] |
Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053719]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053719]|See cases [RCV000053719] |
Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 |
copy number gain |
Intellectual functioning disability [RCV000053721]|See cases [RCV000053721] |
Chr13:18676442..37656039 [GRCh38] Chr13:19250582..38230176 [GRCh37] Chr13:18148582..37128176 [NCBI36] Chr13:13q11-13.3 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 |
copy number gain |
Premature Birth [RCV000053723]|See cases [RCV000053723] |
Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
NM_014363.5(SACS):c.6795C>T (p.Ser2265=) |
single nucleotide variant |
Malignant melanoma [RCV000070316] |
Chr13:23337081 [GRCh38] Chr13:23911220 [GRCh37] Chr13:22809220 [NCBI36] Chr13:13q12.12 |
not provided |
NM_014363.5(SACS):c.5533C>T (p.Pro1845Ser) |
single nucleotide variant |
Malignant melanoma [RCV000070317] |
Chr13:23338343 [GRCh38] Chr13:23912482 [GRCh37] Chr13:22810482 [NCBI36] Chr13:13q12.12 |
not provided |
NM_014363.5(SACS):c.2356C>T (p.Leu786Phe) |
single nucleotide variant |
Malignant melanoma [RCV000070318] |
Chr13:23341520 [GRCh38] Chr13:23915659 [GRCh37] Chr13:22813659 [NCBI36] Chr13:13q12.12 |
not provided |
NM_014363.5(SACS):c.3107C>T (p.Pro1036Leu) |
single nucleotide variant |
Malignant melanoma [RCV000062645] |
Chr13:23340769 [GRCh38] Chr13:23914908 [GRCh37] Chr13:22812908 [NCBI36] Chr13:13q12.12 |
not provided |
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) |
single nucleotide variant |
AllHighlyPenetrant [RCV000118228]|Spastic ataxia Charlevoix-Saguenay type [RCV000366246]|not provided [RCV000676354]|not specified [RCV000118228] |
Chr13:23333770 [GRCh38] Chr13:23907909 [GRCh37] Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) |
single nucleotide variant |
AllHighlyPenetrant [RCV000118229]|Spastic ataxia Charlevoix-Saguenay type [RCV000270430]|not provided [RCV000676352]|not specified [RCV000118229] |
Chr13:23333538 [GRCh38] Chr13:23907677 [GRCh37] Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) |
single nucleotide variant |
AllHighlyPenetrant [RCV000118230]|Spastic ataxia Charlevoix-Saguenay type [RCV000325147]|not provided [RCV000676348]|not specified [RCV000118230] |
Chr13:23331572 [GRCh38] Chr13:23905711 [GRCh37] Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_014363.6(SACS):c.1656A>G (p.Leu552=) |
single nucleotide variant |
AllHighlyPenetrant [RCV000118231]|Spastic ataxia Charlevoix-Saguenay type [RCV000321187]|not provided [RCV000676371]|not specified [RCV000118231] |
Chr13:23354956 [GRCh38] Chr13:23929095 [GRCh37] Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) |
single nucleotide variant |
AllHighlyPenetrant [RCV000118232]|Spastic ataxia Charlevoix-Saguenay type [RCV000381598]|not provided [RCV000676364]|not specified [RCV000118232] |
Chr13:23337681 [GRCh38] Chr13:23911820 [GRCh37] Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) |
single nucleotide variant |
AllHighlyPenetrant [RCV000118233]|Spastic ataxia Charlevoix-Saguenay type [RCV000304888]|not provided [RCV000676376]|not specified [RCV000118233] |
Chr13:23355916 [GRCh38] Chr13:23930055 [GRCh37] Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_014363.6(SACS):c.8853T>C (p.Val2951=) |
single nucleotide variant |
AllHighlyPenetrant [RCV000118234]|Spastic ataxia Charlevoix-Saguenay type [RCV000372801]|not provided [RCV000676356]|not specified [RCV000118234] |
Chr13:23335023 [GRCh38] Chr13:23909162 [GRCh37] Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) |
single nucleotide variant |
AllHighlyPenetrant [RCV000118235]|Spastic ataxia Charlevoix-Saguenay type [RCV000331174]|not provided [RCV000676355]|not specified [RCV000118235] |
Chr13:23333895 [GRCh38] Chr13:23908034 [GRCh37] Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) |
single nucleotide variant |
Spastic paraplegia [RCV000462053]|not provided [RCV000224353]|not specified [RCV000173862] |
Chr13:23335003 [GRCh38] Chr13:23909142 [GRCh37] Chr13:13q12.12 |
benign |
GRCh38/hg38 13q12.12(chr13:23106962-23856032)x1 |
copy number loss |
See cases [RCV000133647] |
Chr13:23106962..23856032 [GRCh38] Chr13:23681101..24430171 [GRCh37] Chr13:22579101..23328171 [NCBI36] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.7915_7920del (p.Ile2639_Ser2640del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000668818] |
Chr13:23335956..23335961 [GRCh38] Chr13:23910094..23910100 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000515329]|not provided [RCV000173857]|not provided [RCV000710206]|not specified [RCV000194599] |
Chr13:23339800 [GRCh38] Chr13:23913939 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000515968]|Spastic ataxia Charlevoix-Saguenay type [RCV000674768]|Spastic paraplegia [RCV000542522]|not provided [RCV000173858]|not provided [RCV000488235]|not specified [RCV000254363] |
Chr13:23330159 [GRCh38] Chr13:23904298 [GRCh37] Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) |
single nucleotide variant |
not specified [RCV000173859] |
Chr13:23335743 [GRCh38] Chr13:23909882 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000400126]|Spastic paraplegia [RCV000529375]|not specified [RCV000173860] |
Chr13:23341233 [GRCh38] Chr13:23915372 [GRCh37] Chr13:13q12.12 |
likely benign|uncertain significance |
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) |
single nucleotide variant |
not provided [RCV000658671]|not specified [RCV000173861] |
Chr13:23335462 [GRCh38] Chr13:23909601 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) |
single nucleotide variant |
not specified [RCV000173863] |
Chr13:23340802 [GRCh38] Chr13:23914941 [GRCh37] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.12(chr13:22992823-24336605)x1 |
copy number loss |
See cases [RCV000051235] |
Chr13:22992823..24336605 [GRCh38] Chr13:23566962..24910743 [GRCh37] Chr13:22464962..23808743 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.12(chr13:22992950-24336636)x1 |
copy number loss |
See cases [RCV000134057] |
Chr13:22992950..24336636 [GRCh38] Chr13:23567089..24910774 [GRCh37] Chr13:22465089..23808774 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 |
copy number gain |
See cases [RCV000134104] |
Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.12(chr13:23045243-24253602)x1 |
copy number loss |
See cases [RCV000134882] |
Chr13:23045243..24253602 [GRCh38] Chr13:23619382..24827740 [GRCh37] Chr13:22517382..23725740 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 |
copy number loss |
See cases [RCV000135610] |
Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.12(chr13:22764286-24444616)x3 |
copy number gain |
See cases [RCV000135612] |
Chr13:22764286..24444616 [GRCh38] Chr13:23338425..25018754 [GRCh37] Chr13:22236425..23916754 [NCBI36] Chr13:13q12.12 |
likely benign |
GRCh38/hg38 13q12.12(chr13:22822881-23533846)x1 |
copy number loss |
See cases [RCV000135940] |
Chr13:22822881..23533846 [GRCh38] Chr13:23397020..24107985 [GRCh37] Chr13:22295020..23005985 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3 |
copy number gain |
See cases [RCV000138208] |
Chr13:22980365..24370481 [GRCh38] Chr13:23554504..24944619 [GRCh37] Chr13:22452504..23842619 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.12(chr13:22980365-23533846)x1 |
copy number loss |
See cases [RCV000137737] |
Chr13:22980365..23533846 [GRCh38] Chr13:23554504..24107985 [GRCh37] Chr13:22452504..23005985 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 |
copy number gain |
See cases [RCV000137892] |
Chr13:19671934..40914767 [GRCh38] Chr13:20246074..41488903 [GRCh37] Chr13:19144074..40386903 [NCBI36] Chr13:13q12.11-14.11 |
pathogenic |
GRCh38/hg38 13q12.12(chr13:22943845-24355293)x3 |
copy number gain |
See cases [RCV000138877] |
Chr13:22943845..24355293 [GRCh38] Chr13:23517984..24929431 [GRCh37] Chr13:22415984..23827431 [NCBI36] Chr13:13q12.12 |
uncertain significance|conflicting data from submitters |
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 |
copy number gain |
See cases [RCV000139078] |
Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.12(chr13:22959219-24384434)x3 |
copy number gain |
See cases [RCV000140092] |
Chr13:22959219..24384434 [GRCh38] Chr13:23533358..24958572 [GRCh37] Chr13:22431358..23856572 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.12(chr13:22980365-24336546)x3 |
copy number gain |
See cases [RCV000139968] |
Chr13:22980365..24336546 [GRCh38] Chr13:23554504..24910684 [GRCh37] Chr13:22452504..23808684 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.12(chr13:22943845-24336546)x3 |
copy number gain |
See cases [RCV000139971] |
Chr13:22943845..24336546 [GRCh38] Chr13:23517984..24910684 [GRCh37] Chr13:22415984..23808684 [NCBI36] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) |
single nucleotide variant |
Spastic paraplegia [RCV000231626]|not provided [RCV000761853]|not specified [RCV000203008] |
Chr13:23340893 [GRCh38] Chr13:23915032 [GRCh37] Chr13:13q12.12 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 |
copy number gain |
See cases [RCV000140004] |
Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 |
copy number gain |
See cases [RCV000141867] |
Chr13:18862146..33577351 [GRCh38] Chr13:19436286..34151488 [GRCh37] Chr13:18334286..33049488 [NCBI36] Chr13:13q11-13.2 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 |
copy number gain |
See cases [RCV000142924] |
Chr13:19671934..114340331 [GRCh38] Chr13:20246074..115085141 [GRCh37] Chr13:19144074..114123908 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1 |
copy number loss |
See cases [RCV000143197] |
Chr13:19671934..24985872 [GRCh38] Chr13:20246074..25560010 [GRCh37] Chr13:19144074..24458010 [NCBI36] Chr13:13q12.11-12.13 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 |
copy number gain |
See cases [RCV000143462] |
Chr13:18862146..114342258 [GRCh38] Chr13:19436286..115107733 [GRCh37] Chr13:18334286..114125835 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3 |
copy number gain |
See cases [RCV000148116] |
Chr13:22992823..24336605 [GRCh38] Chr13:23566962..24910743 [GRCh37] Chr13:22464962..23808743 [NCBI36] Chr13:13q12.12 |
uncertain significance |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 |
copy number gain |
See cases [RCV000148126] |
Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000157061] |
Chr13:23340287 [GRCh38] Chr13:23914426 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.10462_10463CT[2] (p.Ser3489fs) |
microsatellite |
Spastic ataxia Charlevoix-Saguenay type [RCV000168999] |
Chr13:23333409..23333410 [GRCh38] Chr13:23907548..23907549 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000192438]|Spastic paraplegia [RCV000633059] |
Chr13:23332970 [GRCh38] Chr13:23907109 [GRCh37] Chr13:13q12.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000169208] |
Chr13:23341436..23341437 [GRCh38] Chr13:23915575..23915576 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000169220] |
Chr13:23331644 [GRCh38] Chr13:23905783 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000169272] |
Chr13:23330903 [GRCh38] Chr13:23905042 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12847_12848AG[2] (p.Glu4284fs) |
microsatellite |
Spastic ataxia Charlevoix-Saguenay type [RCV000169401] |
Chr13:23331022..23331025 [GRCh38] Chr13:23905161..23905164 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000169583] |
Chr13:23340548 [GRCh38] Chr13:23914687 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.4(SACS):c.7276C>T |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000169603]|not provided [RCV000734960] |
Chr13:23336600 [GRCh38] Chr13:23910739 [GRCh37] Chr13:13q12.12 |
pathogenic|likely pathogenic |
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000278445]|Spastic paraplegia [RCV000230933]|not specified [RCV000193480] |
Chr13:23332894 [GRCh38] Chr13:23907033 [GRCh37] Chr13:13q12.12 |
likely benign|uncertain significance |
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000338267]|Spastic paraplegia [RCV000470007]|not specified [RCV000193535] |
Chr13:23340449 [GRCh38] Chr13:23914588 [GRCh37] Chr13:13q12.12 |
likely benign|uncertain significance |
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) |
single nucleotide variant |
Abnormality of brain morphology [RCV000454342]|Spastic ataxia Charlevoix-Saguenay type [RCV000709972]|Spastic paraplegia [RCV000475223]|not specified [RCV000193608] |
Chr13:23339410 [GRCh38] Chr13:23913549 [GRCh37] Chr13:13q12.12 |
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000194652]|Spastic paraplegia [RCV000230214]|not provided [RCV000513770]|not specified [RCV000353763] |
Chr13:23335483 [GRCh38] Chr13:23909622 [GRCh37] Chr13:13q12.12 |
likely pathogenic|uncertain significance |
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) |
single nucleotide variant |
Abnormality of brain morphology [RCV000454220]|not provided [RCV000393719] |
Chr13:23353788 [GRCh38] Chr13:23927927 [GRCh37] Chr13:13q12.12 |
pathogenic|likely pathogenic |
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000401468]|Spastic paraplegia [RCV000696081]|not specified [RCV000390861] |
Chr13:23337868 [GRCh38] Chr13:23912007 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1917_1918AC[1] (p.His640fs) |
microsatellite |
Spastic ataxia Charlevoix-Saguenay type [RCV000192515] |
Chr13:23354692..23354693 [GRCh38] Chr13:23928831..23928832 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) |
indel |
Spastic paraplegia [RCV000687700]|not specified [RCV000192981] |
Chr13:23339758..23339759 [GRCh38] Chr13:23913897..23913898 [GRCh37] Chr13:13q12.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014363.6(SACS):c.8848_8849dup (p.Val2951fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000194102] |
Chr13:23335027..23335028 [GRCh38] Chr13:23909166..23909167 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.13527dup (p.Glu4510fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000194514] |
Chr13:23330349 [GRCh38] Chr13:23904488 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000411666]|not provided [RCV000297710] |
Chr13:23334368 [GRCh38] Chr13:23908507 [GRCh37] Chr13:13q12.12 |
pathogenic|likely pathogenic |
NM_014363.6(SACS):c.4188C>T (p.His1396=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000265524]|Spastic paraplegia [RCV000461336]|not provided [RCV000676366]|not specified [RCV000324275] |
Chr13:23339688 [GRCh38] Chr13:23913827 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000269188]|not specified [RCV000282202] |
Chr13:23340124 [GRCh38] Chr13:23914263 [GRCh37] Chr13:13q12.12 |
likely benign|uncertain significance |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 |
copy number gain |
See cases [RCV000240150] |
Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000670743]|not provided [RCV000282747] |
Chr13:23338996..23338999 [GRCh38] Chr13:23913135..23913138 [GRCh37] Chr13:13q12.12 |
pathogenic|likely pathogenic |
GRCh37/hg19 13q12.12(chr13:23515553-24927971)x1 |
copy number loss |
See cases [RCV000258794] |
Chr13:23515553..24927971 [GRCh37] Chr13:13q12.12 |
likely benign |
GRCh37/hg19 13q12.12(chr13:23671134-24896556)x1 |
copy number loss |
See cases [RCV000446032] |
Chr13:23671134..24896556 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.8793del (p.Lys2931fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000674417]|Spastic paraplegia [RCV000706287]|not provided [RCV000519077] |
Chr13:23335083 [GRCh38] Chr13:23909222 [GRCh37] Chr13:13q12.12 |
pathogenic|likely pathogenic |
NM_014363.6(SACS):c.2682G>A (p.Ser894=) |
single nucleotide variant |
Spastic paraplegia [RCV000544282] |
Chr13:23341194 [GRCh38] Chr13:23915333 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) |
deletion |
not provided [RCV000516377] |
Chr13:23336713..23336714 [GRCh38] Chr13:23910852..23910853 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.13269A>T (p.Ser4423=) |
single nucleotide variant |
not specified [RCV000517276] |
Chr13:23330607 [GRCh38] Chr13:23904746 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs) |
deletion |
Autosomal recessive spastic ataxia [RCV000824756]|Spastic ataxia Charlevoix-Saguenay type [RCV000218042] |
Chr13:23335333..23335334 [GRCh38] Chr13:23909472..23909473 [GRCh37] Chr13:13q12.12 |
pathogenic|likely pathogenic |
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000677658] |
Chr13:23368485 [GRCh38] Chr13:23942624 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser) |
single nucleotide variant |
not provided [RCV000712981] |
Chr13:23337470 [GRCh38] Chr13:23911609 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs) |
indel |
Spastic ataxia Charlevoix-Saguenay type [RCV000669989] |
Chr13:23337575..23337576 [GRCh38] Chr13:23911713..23911715 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.7641dup (p.Glu2548fs) |
duplication |
Autosomal recessive spastic ataxia [RCV000214078]|Spastic ataxia Charlevoix-Saguenay type [RCV000214078] |
Chr13:23336235 [GRCh38] Chr13:23910374 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.5358_5360TGA[1] (p.Asp1788del) |
microsatellite |
Spastic ataxia Charlevoix-Saguenay type [RCV000668952] |
Chr13:23338513..23338515 [GRCh38] Chr13:23912651..23912654 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val) |
single nucleotide variant |
Spastic paraplegia [RCV000227902] |
Chr13:23334584 [GRCh38] Chr13:23908723 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000334685]|Spastic paraplegia [RCV000228187]|not provided [RCV000710205]|not specified [RCV000372721] |
Chr13:23340747 [GRCh38] Chr13:23914886 [GRCh37] Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000322346]|Spastic paraplegia [RCV000230479]|not provided [RCV000224626]|not specified [RCV000251185] |
Chr13:23331227 [GRCh38] Chr13:23905366 [GRCh37] Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014363.6(SACS):c.2427G>A (p.Glu809=) |
single nucleotide variant |
Spastic paraplegia [RCV000228862] |
Chr13:23341449 [GRCh38] Chr13:23915588 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) |
single nucleotide variant |
not provided [RCV000224523]|not specified [RCV000290021] |
Chr13:23339758 [GRCh38] Chr13:23913897 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) |
single nucleotide variant |
not provided [RCV000224587] |
Chr13:23335532 [GRCh38] Chr13:23909671 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000260358]|Spastic paraplegia [RCV000229761]|not specified [RCV000516875] |
Chr13:23337095 [GRCh38] Chr13:23911234 [GRCh37] Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000392205]|Spastic paraplegia [RCV000230264]|not provided [RCV000710203]|not specified [RCV000516579] |
Chr13:23333265 [GRCh38] Chr13:23907404 [GRCh37] Chr13:13q12.12 |
benign|likely benign|uncertain significance |
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn) |
single nucleotide variant |
Spastic paraplegia [RCV000225857]|not provided [RCV000676365] |
Chr13:23338028 [GRCh38] Chr13:23912167 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000341299]|Spastic paraplegia [RCV000232539]|not provided [RCV000676358]|not specified [RCV000285870] |
Chr13:23335537 [GRCh38] Chr13:23909676 [GRCh37] Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014363.6(SACS):c.8344_8345delinsAT (p.Ala2782Ile) |
indel |
Spastic paraplegia [RCV000226314]|not specified [RCV000518355] |
Chr13:23335531..23335532 [GRCh38] Chr13:23909670..23909671 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_014363.6(SACS):c.10708A>T (p.Ile3570Leu) |
single nucleotide variant |
Spastic paraplegia [RCV000233130] |
Chr13:23333168 [GRCh38] Chr13:23907307 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.2988A>G (p.Leu996=) |
single nucleotide variant |
Spastic paraplegia [RCV000226535]|not provided [RCV000761852]|not specified [RCV000386665] |
Chr13:23340888 [GRCh38] Chr13:23915027 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) |
single nucleotide variant |
Spastic paraplegia [RCV000232090] |
Chr13:23340485 [GRCh38] Chr13:23914624 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) |
single nucleotide variant |
Spastic paraplegia [RCV000226968]|not specified [RCV000516532] |
Chr13:23333055 [GRCh38] Chr13:23907194 [GRCh37] Chr13:13q12.12 |
benign |
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000295984]|Spastic paraplegia [RCV000232996] |
Chr13:23334845 [GRCh38] Chr13:23908984 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10572A>G (p.Leu3524=) |
single nucleotide variant |
Spastic paraplegia [RCV000227431] |
Chr13:23333304 [GRCh38] Chr13:23907443 [GRCh37] Chr13:13q12.12 |
likely benign |
GRCh37/hg19 13q12.12(chr13:23368834-24815661)x3 |
copy number gain |
Premature ovarian failure [RCV000225145] |
Chr13:23368834..24815661 [GRCh37] Chr13:13q12.12 |
benign |
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000293354]|Spastic paraplegia [RCV000233808]|not specified [RCV000518611] |
Chr13:23332188 [GRCh38] Chr13:23906327 [GRCh37] Chr13:13q12.12 |
benign|uncertain significance |
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000624974]|Spastic paraplegia [RCV000234475]|not provided [RCV000676368]|not specified [RCV000250154] |
Chr13:23354532 [GRCh38] Chr13:23928671 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000379249]|Spastic paraplegia [RCV000228765]|not specified [RCV000516975] |
Chr13:23331279 [GRCh38] Chr13:23905418 [GRCh37] Chr13:13q12.12 |
benign|uncertain significance |
NM_014363.6(SACS):c.6282del (p.Thr2095fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000669770] |
Chr13:23337594 [GRCh38] Chr13:23911732..23911733 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000327882]|not provided [RCV000710202]|not specified [RCV000329092] |
Chr13:23333602 [GRCh38] Chr13:23907741 [GRCh37] Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000343325]|Spastic paraplegia [RCV000474698]|not provided [RCV000676362]|not specified [RCV000321971] |
Chr13:23337609 [GRCh38] Chr13:23911748 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) |
single nucleotide variant |
Spastic paraplegia [RCV000547323]|not specified [RCV000518100] |
Chr13:23339264 [GRCh38] Chr13:23913403 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8589dup (p.Pro2864fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000669195] |
Chr13:23335287 [GRCh38] Chr13:23909425 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.8009del (p.Leu2670fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000669250] |
Chr13:23335867 [GRCh38] Chr13:23910005..23910006 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5304_5306del (p.His1769del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000669699] |
Chr13:23338570..23338572 [GRCh38] Chr13:23912708..23912711 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.2564T>G (p.Leu855Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000669728] |
Chr13:23341312 [GRCh38] Chr13:23915451 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.8512_8514del (p.Ser2838del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000669788] |
Chr13:23335362..23335364 [GRCh38] Chr13:23909500..23909503 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.*20del |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000669879] |
Chr13:23330116 [GRCh38] Chr13:23904254..23904255 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.5826C>T (p.Tyr1942=) |
single nucleotide variant |
Spastic paraplegia [RCV000525407] |
Chr13:23338050 [GRCh38] Chr13:23912189 [GRCh37] Chr13:13q12.12 |
benign |
NM_014363.6(SACS):c.2451_2452insT (p.Ile818fs) |
insertion |
Spastic ataxia Charlevoix-Saguenay type [RCV000668817] |
Chr13:23341424..23341425 [GRCh38] Chr13:23915563 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000669194] |
Chr13:23330885 [GRCh38] Chr13:23905024 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.11509C>T (p.Gln3837Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000669284] |
Chr13:23332367 [GRCh38] Chr13:23906506 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
GRCh37/hg19 13q12.12(chr13:23671134-25009594)x3 |
copy number gain |
See cases [RCV000240032] |
Chr13:23671134..25009594 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.12028C>T (p.Gln4010Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000322018] |
Chr13:23331848 [GRCh38] Chr13:23905987 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) |
single nucleotide variant |
Spastic paraplegia [RCV000546423]|not provided [RCV000710207]|not specified [RCV000243536] |
Chr13:23336348 [GRCh38] Chr13:23910487 [GRCh37] Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014363.6(SACS):c.-13A>G |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000315880]|not specified [RCV000248762] |
Chr13:23411252 [GRCh38] Chr13:23985391 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_014363.6(SACS):c.3242C>T (p.Pro1081Leu) |
single nucleotide variant |
not specified [RCV000517189] |
Chr13:23340634 [GRCh38] Chr13:23914773 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) |
single nucleotide variant |
not specified [RCV000249301] |
Chr13:23335531 [GRCh38] Chr13:23909670 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000398344]|Spastic paraplegia [RCV000456504]|not provided [RCV000676350]|not specified [RCV000254240] |
Chr13:23332844 [GRCh38] Chr13:23906983 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_014363.6(SACS):c.2094-14C>T |
single nucleotide variant |
not specified [RCV000242098] |
Chr13:23353890 [GRCh38] Chr13:23928029 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.2721G>A (p.Leu907=) |
single nucleotide variant |
not specified [RCV000247097] |
Chr13:23341155 [GRCh38] Chr13:23915294 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.909A>G (p.Ala303=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000344542]|Spastic paraplegia [RCV000465285]|not provided [RCV000676375]|not specified [RCV000249605] |
Chr13:23355703 [GRCh38] Chr13:23929842 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_014363.6(SACS):c.345+35T>C |
single nucleotide variant |
not specified [RCV000252065] |
Chr13:23368367 [GRCh38] Chr13:23942506 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.7763T>A (p.Leu2588His) |
single nucleotide variant |
not specified [RCV000517402] |
Chr13:23336113 [GRCh38] Chr13:23910252 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1799A>G (p.Gln600Arg) |
single nucleotide variant |
not specified [RCV000516359] |
Chr13:23354813 [GRCh38] Chr13:23928952 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.171+6C>T |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000300554]|not provided [RCV000676377]|not specified [RCV000242640] |
Chr13:23375113 [GRCh38] Chr13:23949252 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_014363.6(SACS):c.1839G>A (p.Gln613=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000361137]|Spastic paraplegia [RCV000463635]|not provided [RCV000676370]|not specified [RCV000247615] |
Chr13:23354773 [GRCh38] Chr13:23928912 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_014363.6(SACS):c.171+13C>T |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000393585]|not specified [RCV000250510] |
Chr13:23375106 [GRCh38] Chr13:23949245 [GRCh37] Chr13:13q12.12 |
likely benign|uncertain significance |
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) |
single nucleotide variant |
not specified [RCV000516670] |
Chr13:23337825 [GRCh38] Chr13:23911964 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.346-47G>A |
single nucleotide variant |
not specified [RCV000243243] |
Chr13:23365324 [GRCh38] Chr13:23939463 [GRCh37] Chr13:13q12.12 |
benign |
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn) |
single nucleotide variant |
Spastic paraplegia [RCV000803901]|not specified [RCV000518243] |
Chr13:23337846 [GRCh38] Chr13:23911985 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10972C>T (p.Arg3658Trp) |
single nucleotide variant |
not specified [RCV000248252] |
Chr13:23332904 [GRCh38] Chr13:23907043 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) |
single nucleotide variant |
not specified [RCV000518362] |
Chr13:23338485 [GRCh38] Chr13:23912624 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000300780]|not specified [RCV000516210] |
Chr13:23338940 [GRCh38] Chr13:23913079 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000321278] |
Chr13:23337299 [GRCh38] Chr13:23911438 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.3545C>T (p.Ala1182Val) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000283262] |
Chr13:23340331 [GRCh38] Chr13:23914470 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.-59C>A |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000370452] |
Chr13:23411298 [GRCh38] Chr13:23985437 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000266493] |
Chr13:23354884 [GRCh38] Chr13:23929023 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000347234]|Spastic paraplegia [RCV000699474]|not specified [RCV000517759] |
Chr13:23337817 [GRCh38] Chr13:23911956 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000372498] |
Chr13:23355334 [GRCh38] Chr13:23929473 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000304456] |
Chr13:23333300 [GRCh38] Chr13:23907439 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.3345C>T (p.Val1115=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000374188] |
Chr13:23340531 [GRCh38] Chr13:23914670 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000399926] |
Chr13:23340834 [GRCh38] Chr13:23914973 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.12438G>A (p.Ser4146=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000268383] |
Chr13:23331438 [GRCh38] Chr13:23905577 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.2110C>A (p.Leu704Ile) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000270117] |
Chr13:23353860 [GRCh38] Chr13:23927999 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.944A>G (p.Asp315Gly) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000289676] |
Chr13:23355668 [GRCh38] Chr13:23929807 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000350600]|Spastic paraplegia [RCV000550324] |
Chr13:23337946 [GRCh38] Chr13:23912085 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.*1292A>T |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000289553] |
Chr13:23328844 [GRCh38] Chr13:23902983 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6069C>T (p.Asn2023=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000289978] |
Chr13:23337807 [GRCh38] Chr13:23911946 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.-331A>C |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000291246] |
Chr13:23411570 [GRCh38] Chr13:23985709 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000309988]|Spastic paraplegia [RCV000529780]|not specified [RCV000517722] |
Chr13:23341379 [GRCh38] Chr13:23915518 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000273799] |
Chr13:23333812 [GRCh38] Chr13:23907951 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000275588]|not provided [RCV000712990] |
Chr13:23336349 [GRCh38] Chr13:23910488 [GRCh37] Chr13:13q12.12 |
likely benign|uncertain significance |
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000293298] |
Chr13:23355531 [GRCh38] Chr13:23929670 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000312333] |
Chr13:23337944 [GRCh38] Chr13:23912083 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000357802]|not specified [RCV000517025] |
Chr13:23339574 [GRCh38] Chr13:23913713 [GRCh37] Chr13:13q12.12 |
likely benign|uncertain significance |
NM_014363.6(SACS):c.-70G>A |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000275839] |
Chr13:23411309 [GRCh38] Chr13:23985448 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.5302C>T (p.His1768Tyr) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000297039] |
Chr13:23338574 [GRCh38] Chr13:23912713 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1173T>C (p.Ser391=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000387597] |
Chr13:23355439 [GRCh38] Chr13:23929578 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1224C>T (p.Asp408=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000296723] |
Chr13:23355388 [GRCh38] Chr13:23929527 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8379G>A (p.Gln2793=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000390354] |
Chr13:23335497 [GRCh38] Chr13:23909636 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1608G>A (p.Pro536=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000262582] |
Chr13:23355004 [GRCh38] Chr13:23929143 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000392204]|Spastic paraplegia [RCV000633069]|not specified [RCV000518679] |
Chr13:23332980 [GRCh38] Chr13:23907119 [GRCh37] Chr13:13q12.12 |
benign|uncertain significance |
NM_014363.6(SACS):c.3144A>G (p.Val1048=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000279611]|not provided [RCV000712974] |
Chr13:23340732 [GRCh38] Chr13:23914871 [GRCh37] Chr13:13q12.12 |
benign|uncertain significance |
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000282675]|Spastic paraplegia [RCV000691162] |
Chr13:23337242 [GRCh38] Chr13:23911381 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7535A>G (p.Asn2512Ser) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000367674] |
Chr13:23336341 [GRCh38] Chr13:23910480 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000280553] |
Chr13:23335121 [GRCh38] Chr13:23909260 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.-531G>A |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000342904] |
Chr13:23433644 [GRCh38] Chr13:24007783 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000392069] |
Chr13:23338035 [GRCh38] Chr13:23912174 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle) |
indel |
not specified [RCV000303594] |
Chr13:23333414..23333415 [GRCh38] Chr13:23907553..23907554 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.11152G>A (p.Glu3718Lys) |
single nucleotide variant |
not specified [RCV000303768] |
Chr13:23332724 [GRCh38] Chr13:23906863 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000765117]|not specified [RCV000337604] |
Chr13:23330840 [GRCh38] Chr13:23904979 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) |
single nucleotide variant |
not provided [RCV000725615]|not specified [RCV000338875] |
Chr13:23336736 [GRCh38] Chr13:23910875 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4469C>G (p.Ala1490Gly) |
single nucleotide variant |
not specified [RCV000337874] |
Chr13:23339407 [GRCh38] Chr13:23913546 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000681647]|not specified [RCV000373496] |
Chr13:23340880 [GRCh38] Chr13:23915019 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1917A>G (p.Ala639=) |
single nucleotide variant |
not provided [RCV000710204]|not specified [RCV000339834] |
Chr13:23354695 [GRCh38] Chr13:23928834 [GRCh37] Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000323040] |
Chr13:23339759 [GRCh38] Chr13:23913898 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.47G>T (p.Gly16Val) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000260394]|not provided [RCV000712975] |
Chr13:23375243 [GRCh38] Chr13:23949382 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.*1200A>G |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000346825] |
Chr13:23328936 [GRCh38] Chr13:23903075 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000347323] |
Chr13:23331948 [GRCh38] Chr13:23906087 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000371368]|not provided [RCV000712986] |
Chr13:23336924 [GRCh38] Chr13:23911063 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.13512A>G (p.Ala4504=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000261019] |
Chr13:23330364 [GRCh38] Chr13:23904503 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000348179] |
Chr13:23355546 [GRCh38] Chr13:23929685 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4598C>G (p.Ser1533Ter) |
single nucleotide variant |
not provided [RCV000310504] |
Chr13:23339278 [GRCh38] Chr13:23913417 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000306392]|not specified [RCV000516257] |
Chr13:23335854 [GRCh38] Chr13:23909993 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000306464] |
Chr13:23354700 [GRCh38] Chr13:23928839 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.-367C>A |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000327697] |
Chr13:23411606 [GRCh38] Chr13:23985745 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000349604]|not provided [RCV000712971]|not specified [RCV000489278] |
Chr13:23341195 [GRCh38] Chr13:23915334 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) |
single nucleotide variant |
not specified [RCV000281392] |
Chr13:23334024 [GRCh38] Chr13:23908163 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) |
single nucleotide variant |
Spastic paraplegia [RCV000528010]|not specified [RCV000313782] |
Chr13:23332173 [GRCh38] Chr13:23906312 [GRCh37] Chr13:13q12.12 |
likely benign|uncertain significance |
NM_014363.6(SACS):c.4976T>G (p.Val1659Gly) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000261943] |
Chr13:23338900 [GRCh38] Chr13:23913039 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1640C>T (p.Pro547Leu) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000375874] |
Chr13:23354972 [GRCh38] Chr13:23929111 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8056C>T (p.Leu2686=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000401979] |
Chr13:23335820 [GRCh38] Chr13:23909959 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.-173C>A |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000330947] |
Chr13:23411412 [GRCh38] Chr13:23985551 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.*307A>G |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000353517] |
Chr13:23329829 [GRCh38] Chr13:23903968 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000354216] |
Chr13:23338654 [GRCh38] Chr13:23912793 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000378234] |
Chr13:23337315 [GRCh38] Chr13:23911454 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) |
single nucleotide variant |
not provided [RCV000676373]|not specified [RCV000392351] |
Chr13:23355546 [GRCh38] Chr13:23929685 [GRCh37] Chr13:13q12.12 |
likely benign|uncertain significance |
NM_014363.6(SACS):c.12700T>C (p.Tyr4234His) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000264951] |
Chr13:23331176 [GRCh38] Chr13:23905315 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000310623] |
Chr13:23336229 [GRCh38] Chr13:23910368 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000333051] |
Chr13:23355393 [GRCh38] Chr13:23929532 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000332938] |
Chr13:23336711 [GRCh38] Chr13:23910850 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.99T>C (p.Asp33=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000355437] |
Chr13:23375191 [GRCh38] Chr13:23949330 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000379945]|not specified [RCV000501904] |
Chr13:23340008 [GRCh38] Chr13:23914147 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.-470C>T |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000382222] |
Chr13:23411709 [GRCh38] Chr13:23985848 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000382122]|not specified [RCV000518146] |
Chr13:23331660 [GRCh38] Chr13:23905799 [GRCh37] Chr13:13q12.12 |
likely benign|uncertain significance |
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000406766] |
Chr13:23336163 [GRCh38] Chr13:23910302 [GRCh37] Chr13:13q12.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000762910]|not provided [RCV000377502] |
Chr13:23334571 [GRCh38] Chr13:23908710 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.345+14C>T |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000359589] |
Chr13:23368388 [GRCh38] Chr13:23942527 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000385354] |
Chr13:23332084 [GRCh38] Chr13:23906223 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) |
single nucleotide variant |
not provided [RCV000512830]|not specified [RCV000294424] |
Chr13:23335854 [GRCh38] Chr13:23909993 [GRCh37] Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000315960] |
Chr13:23334886 [GRCh38] Chr13:23909025 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8577C>T (p.His2859=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000338040]|not provided [RCV000676357] |
Chr13:23335299 [GRCh38] Chr13:23909438 [GRCh37] Chr13:13q12.12 |
likely benign|uncertain significance |
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000361442] |
Chr13:23333433 [GRCh38] Chr13:23907572 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.-219A>G |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000385634] |
Chr13:23411458 [GRCh38] Chr13:23985597 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000317718]|Spastic paraplegia [RCV000464896]|not provided [RCV000712962] |
Chr13:23355149 [GRCh38] Chr13:23929288 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.9887C>T (p.Pro3296Leu) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000388007] |
Chr13:23333989 [GRCh38] Chr13:23908128 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7466C>A (p.Pro2489His) |
single nucleotide variant |
not specified [RCV000264811] |
Chr13:23336410 [GRCh38] Chr13:23910549 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) |
single nucleotide variant |
not specified [RCV000333351] |
Chr13:23339597 [GRCh38] Chr13:23913736 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6240T>C (p.Val2080=) |
single nucleotide variant |
not provided [RCV000676363]|not specified [RCV000406126] |
Chr13:23337636 [GRCh38] Chr13:23911775 [GRCh37] Chr13:13q12.12 |
likely benign|uncertain significance |
NM_014363.6(SACS):c.2487C>T (p.Asp829=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000364679] |
Chr13:23341389 [GRCh38] Chr13:23915528 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.954A>G (p.Leu318=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000390104] |
Chr13:23355658 [GRCh38] Chr13:23929797 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000516147]|Spastic ataxia Charlevoix-Saguenay type [RCV000603816]|Spastic paraplegia [RCV000471359]|not provided [RCV000676372]|not specified [RCV000335849] |
Chr13:23355239 [GRCh38] Chr13:23929378 [GRCh37] Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014363.6(SACS):c.9731T>A (p.Leu3244His) |
single nucleotide variant |
not specified [RCV000407228] |
Chr13:23334145 [GRCh38] Chr13:23908284 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4606G>T (p.Val1536Leu) |
single nucleotide variant |
not specified [RCV000489239] |
Chr13:23339270 [GRCh38] Chr13:23913409 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr) |
single nucleotide variant |
not specified [RCV000489327] |
Chr13:23334590 [GRCh38] Chr13:23908729 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8269G>A (p.Gly2757Arg) |
single nucleotide variant |
not specified [RCV000489599] |
Chr13:23335607 [GRCh38] Chr13:23909746 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000674847]|not provided [RCV000522663] |
Chr13:23355989 [GRCh38] Chr13:23930128 [GRCh37] Chr13:13q12.12 |
likely pathogenic|uncertain significance |
NM_014363.6(SACS):c.5431A>T (p.Lys1811Ter) |
single nucleotide variant |
not provided [RCV000490163] |
Chr13:23338445 [GRCh38] Chr13:23912584 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.*1046_*1050CTTTA[1] |
microsatellite |
Limb-Girdle Muscular Dystrophy, Recessive [RCV000359875]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000305184]|Spastic ataxia Charlevoix-Saguenay type [RCV000400201] |
Chr13:23329081..23329085 [GRCh38] Chr13:23903220..23903224 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_000231.2(SGCG):c.*254G>A |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Recessive [RCV000372732]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000315861]|Spastic ataxia Charlevoix-Saguenay type [RCV000354144]|not specified [RCV000394244] |
Chr13:23324795 [GRCh38] Chr13:23898934 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) |
single nucleotide variant |
not specified [RCV000516574] |
Chr13:23340950 [GRCh38] Chr13:23915089 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7857T>C (p.Thr2619=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000364237] |
Chr13:23336019 [GRCh38] Chr13:23910158 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6754G>T (p.Asp2252Tyr) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000317355] |
Chr13:23337122 [GRCh38] Chr13:23911261 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.3557T>C (p.Met1186Thr) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000383585] |
Chr13:23340319 [GRCh38] Chr13:23914458 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.*471C>T |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Recessive [RCV000381497]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000326918] |
Chr13:23329665 [GRCh38] Chr13:23903804 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.3413A>G (p.Asn1138Ser) |
single nucleotide variant |
not specified [RCV000517093] |
Chr13:23340463 [GRCh38] Chr13:23914602 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8341C>G (p.His2781Asp) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000283923] |
Chr13:23335535 [GRCh38] Chr13:23909674 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10967C>G (p.Pro3656Arg) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000335796] |
Chr13:23332909 [GRCh38] Chr13:23907048 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.*882A>C |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000350556] |
Chr13:23329254 [GRCh38] Chr13:23903393 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000350663] |
Chr13:23332467 [GRCh38] Chr13:23906606 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_000231.2(SGCG):c.860= (p.Ser287=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000348757]|not specified [RCV000153942] |
Chr13:23324525 [GRCh38] Chr13:23898664 [GRCh37] Chr13:13q12.12 |
benign |
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys) |
single nucleotide variant |
not specified [RCV000517800] |
Chr13:23334905 [GRCh38] Chr13:23909044 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.5946A>G (p.Gly1982=) |
single nucleotide variant |
not specified [RCV000517832] |
Chr13:23337930 [GRCh38] Chr13:23912069 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.6451T>G (p.Leu2151Val) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000286135] |
Chr13:23337425 [GRCh38] Chr13:23911564 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_000231.2(SGCG):c.*295T>C |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Recessive [RCV000319133]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000261794]|Spastic ataxia Charlevoix-Saguenay type [RCV000391543] |
Chr13:23324836 [GRCh38] Chr13:23898975 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.*677C>T |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Recessive [RCV000265271]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000320434]|Spastic ataxia Charlevoix-Saguenay type [RCV000391991] |
Chr13:23329459 [GRCh38] Chr13:23903598 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.789C>T (p.Asn263=) |
single nucleotide variant |
not specified [RCV000518139] |
Chr13:23355823 [GRCh38] Chr13:23929962 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) |
single nucleotide variant |
not specified [RCV000518207] |
Chr13:23354727 [GRCh38] Chr13:23928866 [GRCh37] Chr13:13q12.12 |
likely benign|uncertain significance |
NM_014363.6(SACS):c.*484T>C |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Recessive [RCV000271293]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000365800]|Spastic ataxia Charlevoix-Saguenay type [RCV000315525] |
Chr13:23329652 [GRCh38] Chr13:23903791 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_000231.2(SGCG):c.*136T>C |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Recessive [RCV000312413]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000273729]|Spastic ataxia Charlevoix-Saguenay type [RCV000299676] |
Chr13:23324677 [GRCh38] Chr13:23898816 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000765119]|not specified [RCV000518535] |
Chr13:23334904 [GRCh38] Chr13:23909043 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.-489G>A |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000287898] |
Chr13:23411728 [GRCh38] Chr13:23985867 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6643T>C (p.Phe2215Leu) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000374343] |
Chr13:23337233 [GRCh38] Chr13:23911372 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) |
single nucleotide variant |
Spastic paraplegia [RCV000553404]|not provided [RCV000676361] |
Chr13:23336727 [GRCh38] Chr13:23910866 [GRCh37] Chr13:13q12.12 |
benign |
NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000299853] |
Chr13:23330594 [GRCh38] Chr13:23904733 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.13031A>G (p.Asn4344Ser) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000357075] |
Chr13:23330845 [GRCh38] Chr13:23904984 [GRCh37] Chr13:13q12.12 |
uncertain significance |
GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 |
copy number loss |
Cardiomyopathy [RCV000611072] |
Chr13:23519916..24941516 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.10716C>G (p.Pro3572=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000300713] |
Chr13:23333160 [GRCh38] Chr13:23907299 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.*942A>G |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000312018] |
Chr13:23329194 [GRCh38] Chr13:23903333 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.3615C>T (p.Ile1205=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000326629] |
Chr13:23340261 [GRCh38] Chr13:23914400 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000358026] |
Chr13:23333177 [GRCh38] Chr13:23907316 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_000231.2(SGCG):c.*13C>T |
single nucleotide variant |
AllHighlyPenetrant [RCV000078402]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000304530]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000398630]|Spastic ataxia Charlevoix-Saguenay type [RCV000393997]|not specified [RCV000078402] |
Chr13:23324554 [GRCh38] Chr13:23898693 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_000231.2(SGCG):c.705T>C (p.Leu235=) |
single nucleotide variant |
AllHighlyPenetrant [RCV000078407]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000278365]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000373060]|Spastic ataxia Charlevoix-Saguenay type [RCV000293880]|not provided [RCV000710216]|not specified [RCV000078407] |
Chr13:23324370 [GRCh38] Chr13:23898509 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_014363.6(SACS):c.12063T>C (p.His4021=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000290073] |
Chr13:23331813 [GRCh38] Chr13:23905952 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.2788A>G (p.Ile930Val) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000313588]|Spastic paraplegia [RCV000700339] |
Chr13:23341088 [GRCh38] Chr13:23915227 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.736C>G (p.Gln246Glu) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000398546] |
Chr13:23355876 [GRCh38] Chr13:23930015 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6565T>G (p.Leu2189Val) |
single nucleotide variant |
not specified [RCV000518764] |
Chr13:23337311 [GRCh38] Chr13:23911450 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1886C>T (p.Ala629Val) |
single nucleotide variant |
Spastic paraplegia [RCV000530995] |
Chr13:23354726 [GRCh38] Chr13:23928865 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.712A>T (p.Lys238Ter) |
single nucleotide variant |
not provided [RCV000627299] |
Chr13:23355900 [GRCh38] Chr13:23930039 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) |
single nucleotide variant |
not specified [RCV000517247] |
Chr13:23338293 [GRCh38] Chr13:23912432 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) |
single nucleotide variant |
not specified [RCV000517365]|not specified [RCV000728923] |
Chr13:23355802 [GRCh38] Chr13:23929941 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_014363.6(SACS):c.13736_13737TG[1] (p.Ter4580LysextTer?) |
microsatellite |
Spastic paraplegia [RCV000822418]|not specified [RCV000599242] |
Chr13:23330137..23330138 [GRCh38] Chr13:23904276..23904277 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000593641] |
Chr13:23330261 [GRCh38] Chr13:23904400 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000671806]|not specified [RCV000593745] |
Chr13:23330849 [GRCh38] Chr13:23904988 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr) |
single nucleotide variant |
Spastic paraplegia [RCV000532956] |
Chr13:23337283 [GRCh38] Chr13:23911422 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8142G>A (p.Ser2714=) |
single nucleotide variant |
not specified [RCV000598079] |
Chr13:23335734 [GRCh38] Chr13:23909873 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) |
single nucleotide variant |
not provided [RCV000627327] |
Chr13:23354940 [GRCh38] Chr13:23929079 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5063_5064AG[1] (p.Ser1689fs) |
microsatellite |
Spastic ataxia Charlevoix-Saguenay type [RCV000591507]|not provided [RCV000724727] |
Chr13:23338810..23338811 [GRCh38] Chr13:23912949..23912950 [GRCh37] Chr13:13q12.12 |
pathogenic|likely pathogenic |
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000409079] |
Chr13:23355422..23355423 [GRCh38] Chr13:23929561..23929562 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000409109] |
Chr13:23332691 [GRCh38] Chr13:23906830 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.2913_2914dup (p.Glu972fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000409133] |
Chr13:23340962..23340963 [GRCh38] Chr13:23915101..23915102 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.2957T>A (p.Leu986Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000409140] |
Chr13:23340919 [GRCh38] Chr13:23915058 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000409179] |
Chr13:23333379 [GRCh38] Chr13:23907518 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.4465_4471del (p.Asn1489fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000409192] |
Chr13:23339405..23339411 [GRCh38] Chr13:23913544..23913550 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000409220] |
Chr13:23355335..23355336 [GRCh38] Chr13:23929474..23929475 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5073_5074dup (p.Ser1692fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000409240] |
Chr13:23338802..23338803 [GRCh38] Chr13:23912941..23912942 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000515938]|Spastic ataxia Charlevoix-Saguenay type [RCV000409299] |
Chr13:23338247 [GRCh38] Chr13:23912386 [GRCh37] Chr13:13q12.12 |
likely pathogenic|uncertain significance |
NM_014363.6(SACS):c.2040C>T (p.Ser680=) |
single nucleotide variant |
Spastic paraplegia [RCV000541304] |
Chr13:23354572 [GRCh38] Chr13:23928711 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000409320] |
Chr13:23330593 [GRCh38] Chr13:23904732 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.2330C>A (p.Ser777Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000409346] |
Chr13:23341546 [GRCh38] Chr13:23915685 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.8617_8620CTTT[1] (p.Ser2874fs) |
microsatellite |
Spastic ataxia Charlevoix-Saguenay type [RCV000409386] |
Chr13:23335252..23335255 [GRCh38] Chr13:23909391..23909394 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5784dup (p.Arg1929fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000409433] |
Chr13:23338092 [GRCh38] Chr13:23912231 [GRCh37] Chr13:13q12.12 |
pathogenic|likely pathogenic |
NM_014363.6(SACS):c.29del (p.Pro10fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000409439] |
Chr13:23375261 [GRCh38] Chr13:23949400 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000409460] |
Chr13:23330949..23330953 [GRCh38] Chr13:23905088..23905092 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.4760del (p.His1587fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000409566] |
Chr13:23339116 [GRCh38] Chr13:23913255 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.7844del (p.Asn2615fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000409571] |
Chr13:23336032 [GRCh38] Chr13:23910171 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.4039del (p.Leu1347fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000409583] |
Chr13:23339837 [GRCh38] Chr13:23913976 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.6757dup (p.Ile2253fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000409610] |
Chr13:23337119 [GRCh38] Chr13:23911258 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.1A>G (p.Met1Val) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000409645] |
Chr13:23411239 [GRCh38] Chr13:23985378 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.468_469insG (p.Tyr157fs) |
insertion |
Spastic ataxia Charlevoix-Saguenay type [RCV000409711] |
Chr13:23358470..23358471 [GRCh38] Chr13:23932609..23932610 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.8733_8734del (p.Asn2911fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000409838] |
Chr13:23335142..23335143 [GRCh38] Chr13:23909281..23909282 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NC_000013.10:g.(?_23667335)_(23985398_?)dup |
duplication |
Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000537039]|Spastic paraplegia [RCV000537039] |
Chr13:23093196..23411259 [GRCh38] Chr13:23667335..23985398 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7788del (p.Phe2596fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000409944] |
Chr13:23336088 [GRCh38] Chr13:23910227 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.4593dup (p.Asp1532fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000410059] |
Chr13:23339283 [GRCh38] Chr13:23913422 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000410263] |
Chr13:23330744 [GRCh38] Chr13:23904883 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.2629_2630dup (p.Leu877fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000410288] |
Chr13:23341246..23341247 [GRCh38] Chr13:23915385..23915386 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.9818_9831del (p.Asp3273fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000410298] |
Chr13:23334045..23334058 [GRCh38] Chr13:23908184..23908197 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.7494_7504del (p.Val2499fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000410317] |
Chr13:23336372..23336382 [GRCh38] Chr13:23910511..23910521 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5760_5763TTAC[1] (p.Leu1922fs) |
microsatellite |
Spastic ataxia Charlevoix-Saguenay type [RCV000410379] |
Chr13:23338109..23338112 [GRCh38] Chr13:23912248..23912251 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.1085del (p.Lys362fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000410403] |
Chr13:23355527 [GRCh38] Chr13:23929666 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.4298G>A (p.Trp1433Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000410424] |
Chr13:23339578 [GRCh38] Chr13:23913717 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000410430] |
Chr13:23333187..23333190 [GRCh38] Chr13:23907326..23907329 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.10090del (p.Ala3364fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000410438] |
Chr13:23333786 [GRCh38] Chr13:23907925 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.6320del (p.Leu2107fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000410468] |
Chr13:23337556 [GRCh38] Chr13:23911695 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.9377dup (p.Leu3128fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000410587] |
Chr13:23334499 [GRCh38] Chr13:23908638 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.2186-2A>G |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000410645] |
Chr13:23341692 [GRCh38] Chr13:23915831 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000410665] |
Chr13:23336352..23336355 [GRCh38] Chr13:23910491..23910494 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.3408T>G (p.Asn1136Lys) |
single nucleotide variant |
not specified [RCV000518654] |
Chr13:23340468 [GRCh38] Chr13:23914607 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000410750] |
Chr13:23334787..23334788 [GRCh38] Chr13:23908926..23908927 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.11081dup (p.Cys3694fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000410800] |
Chr13:23332795 [GRCh38] Chr13:23906934 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.1681del (p.Ala560_Val561insTer) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000410889] |
Chr13:23354931 [GRCh38] Chr13:23929070 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.9390_9391del (p.His3130fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000410981] |
Chr13:23334485..23334486 [GRCh38] Chr13:23908624..23908625 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.10854del (p.Glu3619fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000410993] |
Chr13:23333022 [GRCh38] Chr13:23907161 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000411155] |
Chr13:23332626..23332629 [GRCh38] Chr13:23906765..23906768 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.3195_3196del (p.Phe1065fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000411216] |
Chr13:23340680..23340681 [GRCh38] Chr13:23914819..23914820 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000411243] |
Chr13:23332502 [GRCh38] Chr13:23906641 [GRCh37] Chr13:13q12.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_014363.6(SACS):c.6448_6452del (p.Gln2150fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000411320] |
Chr13:23337424..23337428 [GRCh38] Chr13:23911563..23911567 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000411344] |
Chr13:23338979..23338982 [GRCh38] Chr13:23913118..23913121 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.6221del (p.Asp2074fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000411355] |
Chr13:23337655 [GRCh38] Chr13:23911794 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.6804del (p.Phe2268fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000411394] |
Chr13:23337072 [GRCh38] Chr13:23911211 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.1137dup (p.Glu380fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000411406] |
Chr13:23355475 [GRCh38] Chr13:23929614 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.2870del (p.Pro957fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000411525] |
Chr13:23341006 [GRCh38] Chr13:23915145 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.8612dup (p.Leu2871fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000411570] |
Chr13:23335264 [GRCh38] Chr13:23909403 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.591C>T (p.Val197=) |
single nucleotide variant |
Spastic paraplegia [RCV000540265] |
Chr13:23358348 [GRCh38] Chr13:23932487 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.2233C>T (p.Arg745Cys) |
single nucleotide variant |
not provided [RCV000734127] |
Chr13:23341643 [GRCh38] Chr13:23915782 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4604T>G (p.Phe1535Cys) |
single nucleotide variant |
not provided [RCV000734132] |
Chr13:23339272 [GRCh38] Chr13:23913411 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7394C>A (p.Ser2465Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000411674] |
Chr13:23336482 [GRCh38] Chr13:23910621 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000411733] |
Chr13:23333072 [GRCh38] Chr13:23907211 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.2076del (p.Ser693fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000411780] |
Chr13:23354536 [GRCh38] Chr13:23928675 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000411818] |
Chr13:23355383..23355384 [GRCh38] Chr13:23929522..23929523 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.8867T>A (p.Leu2956Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000411855] |
Chr13:23335009 [GRCh38] Chr13:23909148 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5744_5745del (p.His1915fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000411869] |
Chr13:23338131..23338132 [GRCh38] Chr13:23912270..23912271 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.11731del (p.Ser3911fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000411930] |
Chr13:23332145 [GRCh38] Chr13:23906284 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000412006] |
Chr13:23338751 [GRCh38] Chr13:23912890 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000412060]|Spastic paraplegia [RCV000704868]|not provided [RCV000599123] |
Chr13:23336603 [GRCh38] Chr13:23910742 [GRCh37] Chr13:13q12.12 |
pathogenic|likely pathogenic |
NM_014363.6(SACS):c.11042dup (p.Phe3682fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000412102] |
Chr13:23332834 [GRCh38] Chr13:23906973 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.3356del (p.Pro1119fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000412109] |
Chr13:23340520 [GRCh38] Chr13:23914659 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000412194] |
Chr13:23333012 [GRCh38] Chr13:23907151 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000412241] |
Chr13:23333740 [GRCh38] Chr13:23907879 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12540del (p.Glu4180fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000412310] |
Chr13:23331336 [GRCh38] Chr13:23905475 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.3066del (p.Asn1025fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000412355] |
Chr13:23340810 [GRCh38] Chr13:23914949 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000412381] |
Chr13:23341652 [GRCh38] Chr13:23915791 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000412449] |
Chr13:23339781 [GRCh38] Chr13:23913920 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5379del (p.Phe1793fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000412471] |
Chr13:23338497 [GRCh38] Chr13:23912636 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.7114dup (p.Tyr2372fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000412481] |
Chr13:23336762 [GRCh38] Chr13:23910901 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) |
single nucleotide variant |
Spastic paraplegia [RCV000538311] |
Chr13:23332159 [GRCh38] Chr13:23906298 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.2853C>A (p.His951Gln) |
single nucleotide variant |
Spastic paraplegia [RCV000558806] |
Chr13:23341023 [GRCh38] Chr13:23915162 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn) |
single nucleotide variant |
not specified [RCV000413289] |
Chr13:23330338 [GRCh38] Chr13:23904477 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg) |
single nucleotide variant |
not specified [RCV000516989] |
Chr13:23334703 [GRCh38] Chr13:23908842 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) |
single nucleotide variant |
not specified [RCV000518798] |
Chr13:23355639 [GRCh38] Chr13:23929778 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7861C>T (p.Gln2621Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000408978] |
Chr13:23336015 [GRCh38] Chr13:23910154 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.7139del (p.Asn2380fs) |
deletion |
Inborn genetic diseases [RCV000622821]|Spastic ataxia Charlevoix-Saguenay type [RCV000408983] |
Chr13:23336737 [GRCh38] Chr13:23910876 [GRCh37] Chr13:13q12.12 |
pathogenic|likely pathogenic |
NM_014363.6(SACS):c.5469C>A (p.Cys1823Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000409004] |
Chr13:23338407 [GRCh38] Chr13:23912546 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.8873del (p.Lys2958fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000409008] |
Chr13:23335003 [GRCh38] Chr13:23909142 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) |
single nucleotide variant |
not specified [RCV000413922] |
Chr13:23331992 [GRCh38] Chr13:23906131 [GRCh37] Chr13:13q12.12 |
uncertain significance |
GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1 |
copy number loss |
See cases [RCV000449195] |
Chr13:23519916..24928440 [GRCh37] Chr13:13q12.12 |
uncertain significance |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) |
copy number gain |
See cases [RCV000449142] |
Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
NM_014363.6(SACS):c.7991G>T (p.Gly2664Val) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000449537] |
Chr13:23335885 [GRCh38] Chr13:23910024 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
GRCh37/hg19 13q12.12(chr13:23981973-24479811)x3 |
copy number gain |
See cases [RCV000447294] |
Chr13:23981973..24479811 [GRCh37] Chr13:13q12.12 |
uncertain significance |
GRCh37/hg19 13q12.12(chr13:23629150-24446887)x1 |
copy number loss |
See cases [RCV000447249] |
Chr13:23629150..24446887 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8899C>A (p.Arg2967Ser) |
single nucleotide variant |
not specified [RCV000441442] |
Chr13:23334977 [GRCh38] Chr13:23909116 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6576C>T (p.Ile2192=) |
single nucleotide variant |
Spastic paraplegia [RCV000553683] |
Chr13:23337300 [GRCh38] Chr13:23911439 [GRCh37] Chr13:13q12.12 |
likely benign |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 |
copy number gain |
See cases [RCV000445886] |
Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_014363.6(SACS):c.6512C>G (p.Ala2171Gly) |
single nucleotide variant |
not provided [RCV000425608] |
Chr13:23337364 [GRCh38] Chr13:23911503 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn) |
single nucleotide variant |
not provided [RCV000434730] |
Chr13:23338034 [GRCh38] Chr13:23912173 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NC_000013.10:g.(?_23544669)_(24893183_?)del |
deletion |
Schizophrenia [RCV000416747] |
Chr13:23544669..24893183 [GRCh37] Chr13:22442669..23791183 [NCBI36] Chr13:13q12.12 |
likely pathogenic |
GRCh37/hg19 13q12.12(chr13:23633501-24447228)x1 |
copy number loss |
See cases [RCV000448233] |
Chr13:23633501..24447228 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) |
single nucleotide variant |
Spastic paraplegia [RCV000466492]|not specified [RCV000519338] |
Chr13:23355579 [GRCh38] Chr13:23929718 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) |
single nucleotide variant |
Spastic paraplegia [RCV000466695] |
Chr13:23332922 [GRCh38] Chr13:23907061 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.3414T>C (p.Asn1138=) |
single nucleotide variant |
Spastic paraplegia [RCV000470280] |
Chr13:23340462 [GRCh38] Chr13:23914601 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) |
deletion |
Spastic paraplegia [RCV000470443] |
Chr13:23334312..23334315 [GRCh38] Chr13:23908451..23908454 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) |
single nucleotide variant |
Spastic paraplegia [RCV000463355]|not provided [RCV000712993] |
Chr13:23334472 [GRCh38] Chr13:23908611 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg) |
single nucleotide variant |
Spastic paraplegia [RCV000460462] |
Chr13:23333578 [GRCh38] Chr13:23907717 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.13443C>G (p.Thr4481=) |
single nucleotide variant |
Spastic paraplegia [RCV000464209] |
Chr13:23330433 [GRCh38] Chr13:23904572 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) |
single nucleotide variant |
Spastic paraplegia [RCV000457588]|not specified [RCV000516893] |
Chr13:23334030 [GRCh38] Chr13:23908169 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_014363.6(SACS):c.346-3T>A |
single nucleotide variant |
Spastic paraplegia [RCV000457852] |
Chr13:23365280 [GRCh38] Chr13:23939419 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.2475dup (p.Val826fs) |
duplication |
not provided [RCV000479100] |
Chr13:23341401 [GRCh38] Chr13:23915540 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.9537_9541del (p.Glu3179fs) |
deletion |
not provided [RCV000479181] |
Chr13:23334335..23334339 [GRCh38] Chr13:23908474..23908478 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624366]|Spastic paraplegia [RCV000458276] |
Chr13:23332169 [GRCh38] Chr13:23906308 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn) |
single nucleotide variant |
Spastic paraplegia [RCV000465822]|not specified [RCV000518400] |
Chr13:23335749 [GRCh38] Chr13:23909888 [GRCh37] Chr13:13q12.12 |
benign|likely benign |
NM_014363.6(SACS):c.12242A>G (p.Asn4081Ser) |
single nucleotide variant |
Spastic paraplegia [RCV000473252] |
Chr13:23331634 [GRCh38] Chr13:23905773 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000765121]|Spastic paraplegia [RCV000473308]|not specified [RCV000594324] |
Chr13:23335631 [GRCh38] Chr13:23909770 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4265_4274dup (p.Ile1426_Pro1427insAlaTer) |
duplication |
not provided [RCV000486986] |
Chr13:23339602..23339611 [GRCh38] Chr13:23913741..23913750 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.7569G>A (p.Gly2523=) |
single nucleotide variant |
Spastic paraplegia [RCV000469738] |
Chr13:23336307 [GRCh38] Chr13:23910446 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.2669A>G (p.Asn890Ser) |
single nucleotide variant |
Spastic paraplegia [RCV000477351] |
Chr13:23341207 [GRCh38] Chr13:23915346 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000765124]|Spastic paraplegia [RCV000551798]|not specified [RCV000503684] |
Chr13:23338976 [GRCh38] Chr13:23913115 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) |
deletion |
Spastic paraplegia [RCV000531534] |
Chr13:23336670..23336671 [GRCh38] Chr13:23910809..23910810 [GRCh37] Chr13:13q12.12 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436287-115107733) |
copy number gain |
See cases [RCV000510405] |
Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q12.12(chr13:23533358-24958572)x1 |
copy number loss |
See cases [RCV000510304] |
Chr13:23533358..24958572 [GRCh37] Chr13:13q12.12 |
uncertain significance |
GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1 |
copy number loss |
See cases [RCV000510615] |
Chr13:23519916..24928440 [GRCh37] Chr13:13q12.12 |
likely benign |
GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1 |
copy number loss |
See cases [RCV000511657] |
Chr13:23552966..27027909 [GRCh37] Chr13:13q12.12-12.13 |
likely pathogenic |
NM_014363.6(SACS):c.11737G>C (p.Asp3913His) |
single nucleotide variant |
not specified [RCV000494097] |
Chr13:23332139 [GRCh38] Chr13:23906278 [GRCh37] Chr13:13q12.12 |
uncertain significance |
GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 |
copy number loss |
See cases [RCV000511873] |
Chr13:23519916..24941516 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.6044A>C (p.Tyr2015Ser) |
single nucleotide variant |
not specified [RCV000493370] |
Chr13:23337832 [GRCh38] Chr13:23911971 [GRCh37] Chr13:13q12.12 |
uncertain significance |
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 |
copy number gain |
See cases [RCV000511880] |
Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_014363.6(SACS):c.12150del (p.Phe4050fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000669297] |
Chr13:23331726 [GRCh38] Chr13:23905864..23905865 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.13393del (p.Leu4465fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000669780] |
Chr13:23330483 [GRCh38] Chr13:23904621..23904622 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.815G>A (p.Arg272His) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000670029] |
Chr13:23355797 [GRCh38] Chr13:23929936 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000674260]|not provided [RCV000523535] |
Chr13:23355005 [GRCh38] Chr13:23929144 [GRCh37] Chr13:13q12.12 |
likely pathogenic|uncertain significance |
NM_014363.6(SACS):c.7418_7419delinsTTT (p.Trp2473fs) |
indel |
Spastic ataxia Charlevoix-Saguenay type [RCV000668806] |
Chr13:23336457..23336458 [GRCh38] Chr13:23910595..23910597 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12054del (p.Ile4018_Met4019insTer) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000668875] |
Chr13:23331822 [GRCh38] Chr13:23905960..23905961 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000668994] |
Chr13:23331254 [GRCh38] Chr13:23905393 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12766del (p.Asp4256fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000669007] |
Chr13:23331110 [GRCh38] Chr13:23905248..23905249 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV000633099]|not provided [RCV000712966] |
Chr13:23353824 [GRCh38] Chr13:23927963 [GRCh37] Chr13:13q12.12 |
benign|conflicting interpretations of pathogenicity |
NM_014363.6(SACS):c.1791A>T (p.Ser597=) |
single nucleotide variant |
Spastic paraplegia [RCV000633109] |
Chr13:23354821 [GRCh38] Chr13:23928960 [GRCh37] Chr13:13q12.12 |
benign |
NM_014363.6(SACS):c.2234G>A (p.Arg745His) |
single nucleotide variant |
Spastic paraplegia [RCV000555876] |
Chr13:23341642 [GRCh38] Chr13:23915781 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly) |
single nucleotide variant |
Spastic paraplegia [RCV000557599] |
Chr13:23339248 [GRCh38] Chr13:23913387 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000625765] |
Chr13:23339291 [GRCh38] Chr13:23913430 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.9893_9895del (p.Gly3298del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000672020] |
Chr13:23333981..23333983 [GRCh38] Chr13:23908119..23908122 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000578242]|Spastic paraplegia [RCV000536906] |
Chr13:23339132 [GRCh38] Chr13:23913271 [GRCh37] Chr13:13q12.12 |
pathogenic|likely pathogenic|uncertain significance |
NM_014363.6(SACS):c.13009C>G (p.His4337Asp) |
single nucleotide variant |
Spastic paraplegia [RCV000633036] |
Chr13:23330867 [GRCh38] Chr13:23905006 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu) |
single nucleotide variant |
Spastic paraplegia [RCV000633037] |
Chr13:23335735 [GRCh38] Chr13:23909874 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) |
single nucleotide variant |
Spastic paraplegia [RCV000633040] |
Chr13:23339119 [GRCh38] Chr13:23913258 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV000633042] |
Chr13:23355794 [GRCh38] Chr13:23929933 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.13474G>A (p.Val4492Met) |
single nucleotide variant |
Spastic paraplegia [RCV000633043] |
Chr13:23330402 [GRCh38] Chr13:23904541 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) |
single nucleotide variant |
Spastic paraplegia [RCV000633091] |
Chr13:23331114 [GRCh38] Chr13:23905253 [GRCh37] Chr13:13q12.12 |
benign |
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) |
single nucleotide variant |
Spastic paraplegia [RCV000560347] |
Chr13:23341277 [GRCh38] Chr13:23915416 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.3706_3707insACT (p.Tyr1235dup) |
insertion |
Spastic ataxia Charlevoix-Saguenay type [RCV000672372] |
Chr13:23340169..23340170 [GRCh38] Chr13:23914308 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val) |
single nucleotide variant |
Spastic paraplegia [RCV000556409] |
Chr13:23335895 [GRCh38] Chr13:23910034 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.862_863delinsTC (p.Asn288Ser) |
indel |
Spastic paraplegia [RCV000633024] |
Chr13:23355749..23355750 [GRCh38] Chr13:23929888..23929889 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) |
single nucleotide variant |
Spastic paraplegia [RCV000633078]|not provided [RCV000676374] |
Chr13:23355640 [GRCh38] Chr13:23929779 [GRCh37] Chr13:13q12.12 |
likely benign|uncertain significance |
NM_014363.6(SACS):c.279G>A (p.Thr93=) |
single nucleotide variant |
Spastic paraplegia [RCV000633080] |
Chr13:23368468 [GRCh38] Chr13:23942607 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.260-9G>A |
single nucleotide variant |
Spastic paraplegia [RCV000633086]|not provided [RCV000712970] |
Chr13:23368496 [GRCh38] Chr13:23942635 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.10424_10426del (p.Glu3475del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000672202] |
Chr13:23333450..23333452 [GRCh38] Chr13:23907588..23907591 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) |
single nucleotide variant |
Hereditary ataxia [RCV000824757]|Spastic ataxia Charlevoix-Saguenay type [RCV000612398] |
Chr13:23355798 [GRCh38] Chr13:23929937 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.3282C>T (p.Asn1094=) |
single nucleotide variant |
Spastic paraplegia [RCV000537247] |
Chr13:23340594 [GRCh38] Chr13:23914733 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000625698] |
Chr13:23335297 [GRCh38] Chr13:23909436 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.11899C>G (p.Gln3967Glu) |
single nucleotide variant |
not specified [RCV000596852] |
Chr13:23331977 [GRCh38] Chr13:23906116 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000765122]|Spastic paraplegia [RCV000538701] |
Chr13:23337236 [GRCh38] Chr13:23911375 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val) |
single nucleotide variant |
Spastic paraplegia [RCV000538763] |
Chr13:23337440 [GRCh38] Chr13:23911579 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) |
single nucleotide variant |
Spastic paraplegia [RCV000633061]|not provided [RCV000676351]|not specified [RCV000597948] |
Chr13:23333208 [GRCh38] Chr13:23907347 [GRCh37] Chr13:13q12.12 |
benign|likely benign|uncertain significance |
NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000672222] |
Chr13:23330471 [GRCh38] Chr13:23904610 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1 |
copy number loss |
See cases [RCV000512192] |
Chr13:23519916..24936848 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000625697] |
Chr13:23334153 [GRCh38] Chr13:23908292 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.2438_2439del (p.Thr813fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000672354] |
Chr13:23341437..23341438 [GRCh38] Chr13:23915575..23915577 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.10644del (p.Phe3548fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000625764] |
Chr13:23333233 [GRCh38] Chr13:23907372 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000625786] |
Chr13:23333063 [GRCh38] Chr13:23907202 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.2023A>T (p.Asn675Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV000633046] |
Chr13:23354589 [GRCh38] Chr13:23928728 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.5858A>T (p.His1953Leu) |
single nucleotide variant |
Spastic paraplegia [RCV000633048] |
Chr13:23338018 [GRCh38] Chr13:23912157 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4149T>C (p.His1383=) |
single nucleotide variant |
Spastic paraplegia [RCV000633019] |
Chr13:23339727 [GRCh38] Chr13:23913866 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.83C>T (p.Ser28Phe) |
single nucleotide variant |
Spastic paraplegia [RCV000633012] |
Chr13:23375207 [GRCh38] Chr13:23949346 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.5307T>C (p.His1769=) |
single nucleotide variant |
Spastic paraplegia [RCV000633065] |
Chr13:23338569 [GRCh38] Chr13:23912708 [GRCh37] Chr13:13q12.12 |
benign |
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) |
single nucleotide variant |
Spastic paraplegia [RCV000633092] |
Chr13:23333571 [GRCh38] Chr13:23907710 [GRCh37] Chr13:13q12.12 |
benign |
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln) |
single nucleotide variant |
not specified [RCV000596296] |
Chr13:23355410 [GRCh38] Chr13:23929549 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) |
single nucleotide variant |
not specified [RCV000596432] |
Chr13:23355357 [GRCh38] Chr13:23929496 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) |
single nucleotide variant |
not provided [RCV000513129]|not specified [RCV000518319] |
Chr13:23338144 [GRCh38] Chr13:23912283 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7898C>T (p.Thr2633Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV000622889] |
Chr13:23335978 [GRCh38] Chr13:23910117 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10536del (p.Ile3513fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000673391] |
Chr13:23333340 [GRCh38] Chr13:23907478..23907479 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000673402] |
Chr13:23337824 [GRCh38] Chr13:23911963 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000673405] |
Chr13:23331657..23331658 [GRCh38] Chr13:23905795..23905797 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000664815] |
Chr13:23333220..23333225 [GRCh38] Chr13:23907358..23907364 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4168del (p.Ile1391fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000673214] |
Chr13:23339708 [GRCh38] Chr13:23913846..23913847 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.9763_9764del (p.Val3255fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000673219] |
Chr13:23334112..23334113 [GRCh38] Chr13:23908250..23908252 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.1706G>A (p.Trp569Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624354] |
Chr13:23354906 [GRCh38] Chr13:23929045 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000672014] |
Chr13:23338725..23338727 [GRCh38] Chr13:23912863..23912866 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.13178_13185dup (p.Arg4396fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000672108] |
Chr13:23330691..23330698 [GRCh38] Chr13:23904829 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000672847] |
Chr13:23338866 [GRCh38] Chr13:23913005 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000673080] |
Chr13:23330600 [GRCh38] Chr13:23904739 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.6800_6802del (p.Ser2267del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000673088] |
Chr13:23337074..23337076 [GRCh38] Chr13:23911212..23911215 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.11373dup (p.Arg3792fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000673091] |
Chr13:23332503 [GRCh38] Chr13:23906641 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000673160] |
Chr13:23337746 [GRCh38] Chr13:23911885 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.2329dup (p.Ser777fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000673181] |
Chr13:23341547 [GRCh38] Chr13:23915685 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV000701275] |
Chr13:23330971 [GRCh38] Chr13:23905110 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000664233]|Spastic paraplegia [RCV000691411] |
Chr13:23340970..23340973 [GRCh38] Chr13:23915109..23915112 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000672257] |
Chr13:23337521 [GRCh38] Chr13:23911660 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000672553] |
Chr13:23338157 [GRCh38] Chr13:23912296 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.2287C>T (p.Gln763Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000671096] |
Chr13:23341589 [GRCh38] Chr13:23915728 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12688G>A (p.Gly4230Ser) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000671127] |
Chr13:23331188 [GRCh38] Chr13:23905327 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000671337] |
Chr13:23355651 [GRCh38] Chr13:23929790 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.2186-4A>G |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000664864] |
Chr13:23341694 [GRCh38] Chr13:23915833 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000673586]|not provided [RCV000734417] |
Chr13:23333053..23333054 [GRCh38] Chr13:23907191..23907193 [GRCh37] Chr13:13q12.12 |
pathogenic|likely pathogenic |
NM_014363.6(SACS):c.9356_9358GTC[1] (p.Arg3120del) |
microsatellite |
Spastic ataxia Charlevoix-Saguenay type [RCV000665003] |
Chr13:23334515..23334517 [GRCh38] Chr13:23908653..23908656 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.5999_6001del (p.Lys2000del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000673637] |
Chr13:23337875..23337877 [GRCh38] Chr13:23912013..23912016 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6163del (p.Gln2055fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000673654] |
Chr13:23337713 [GRCh38] Chr13:23911851..23911852 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12820A>G (p.Arg4274Gly) |
single nucleotide variant |
Spastic paraplegia [RCV000699567] |
Chr13:23331056 [GRCh38] Chr13:23905195 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4173_4175del (p.Ile1391del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000670377] |
Chr13:23339701..23339703 [GRCh38] Chr13:23913839..23913842 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.12432_12433CT[1] (p.Ser4145fs) |
microsatellite |
Spastic ataxia Charlevoix-Saguenay type [RCV000670397] |
Chr13:23331441..23331442 [GRCh38] Chr13:23905579..23905581 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.9447del (p.Val3150fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000670775] |
Chr13:23334429 [GRCh38] Chr13:23908567..23908568 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000670813] |
Chr13:23340449 [GRCh38] Chr13:23914588 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.6001dup (p.Arg2001fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000670859] |
Chr13:23337875 [GRCh38] Chr13:23912013 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12661C>G (p.Leu4221Val) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000670973] |
Chr13:23331215 [GRCh38] Chr13:23905354 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.12980del (p.Lys4327fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000671013] |
Chr13:23330896 [GRCh38] Chr13:23905034..23905035 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg) |
single nucleotide variant |
not provided [RCV000658672] |
Chr13:23340176 [GRCh38] Chr13:23914315 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8888del (p.Phe2963fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000669495] |
Chr13:23334988 [GRCh38] Chr13:23909126..23909127 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.3556dup (p.Met1186fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000671609] |
Chr13:23340320 [GRCh38] Chr13:23914458 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.13614C>G (p.Tyr4538Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000671783] |
Chr13:23330262 [GRCh38] Chr13:23904401 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.5719del (p.Arg1907fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000671785] |
Chr13:23338157 [GRCh38] Chr13:23912295..23912296 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.7221_7224dup (p.Gln2409Ter) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000664967] |
Chr13:23336652..23336655 [GRCh38] Chr13:23910790 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000673666] |
Chr13:23355608 [GRCh38] Chr13:23929747 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.9898_9900del (p.Val3300del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000665073] |
Chr13:23333976..23333978 [GRCh38] Chr13:23908114..23908117 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys) |
single nucleotide variant |
not provided [RCV000676360] |
Chr13:23336588 [GRCh38] Chr13:23910727 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) |
single nucleotide variant |
not provided [RCV000676369] |
Chr13:23354706 [GRCh38] Chr13:23928845 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.11039_11040insTA (p.Phe3682fs) |
insertion |
Spastic ataxia Charlevoix-Saguenay type [RCV000674086] |
Chr13:23332836..23332837 [GRCh38] Chr13:23906975 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.11149_11150insT (p.Lys3717fs) |
insertion |
Spastic ataxia Charlevoix-Saguenay type [RCV000666783] |
Chr13:23332726..23332727 [GRCh38] Chr13:23906865 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12775_12777del (p.Pro4259del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000668231] |
Chr13:23331099..23331101 [GRCh38] Chr13:23905237..23905240 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.6919G>T (p.Gly2307Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000668288] |
Chr13:23336957 [GRCh38] Chr13:23911096 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12835_12837del (p.Leu4279del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000668420] |
Chr13:23331039..23331041 [GRCh38] Chr13:23905177..23905180 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.4385dup (p.Arg1463fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000671599] |
Chr13:23339491 [GRCh38] Chr13:23913629 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.6466_6468GAT[1] (p.Asp2157del) |
microsatellite |
Spastic ataxia Charlevoix-Saguenay type [RCV000674356] |
Chr13:23337405..23337407 [GRCh38] Chr13:23911543..23911546 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.12407_12411del (p.Leu4136fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000666804] |
Chr13:23331465..23331469 [GRCh38] Chr13:23905603..23905608 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.7448_7456del (p.Tyr2483_Ala2486delinsSer) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000666850] |
Chr13:23336420..23336428 [GRCh38] Chr13:23910558..23910567 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.3978_3982del (p.Glu1326fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000668565] |
Chr13:23339894..23339898 [GRCh38] Chr13:23914032..23914037 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.10034T>C (p.Val3345Ala) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000672333] |
Chr13:23333842 [GRCh38] Chr13:23907981 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000674504] |
Chr13:23335499 [GRCh38] Chr13:23909638 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.3633del (p.Ala1212fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000666037] |
Chr13:23340243 [GRCh38] Chr13:23914381..23914382 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.1173T>A (p.Ser391=) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000666880] |
Chr13:23355439 [GRCh38] Chr13:23929578 [GRCh37] Chr13:13q12.12 |
likely benign |
NM_014363.6(SACS):c.2627_2631del (p.Val876fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000672777] |
Chr13:23341245..23341249 [GRCh38] Chr13:23915383..23915388 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.13360del (p.Ala4454fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000674757] |
Chr13:23330516 [GRCh38] Chr13:23904654..23904655 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000674771] |
Chr13:23330336 [GRCh38] Chr13:23904475 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.11179C>T (p.Gln3727Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000666271] |
Chr13:23332697 [GRCh38] Chr13:23906836 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.8497_8500del (p.Ser2833fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000673644] |
Chr13:23335376..23335379 [GRCh38] Chr13:23909514..23909518 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000669953] |
Chr13:23330231 [GRCh38] Chr13:23904370 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10050del (p.His3351fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000665203] |
Chr13:23333826 [GRCh38] Chr13:23907964..23907965 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.3369_3371TCT[1] (p.Leu1125del) |
microsatellite |
Spastic ataxia Charlevoix-Saguenay type [RCV000665289] |
Chr13:23340502..23340504 [GRCh38] Chr13:23914640..23914643 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.9774_9776AGA[1] (p.Glu3259del) |
microsatellite |
Spastic ataxia Charlevoix-Saguenay type [RCV000665334] |
Chr13:23334097..23334099 [GRCh38] Chr13:23908235..23908238 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000667332] |
Chr13:23339975 [GRCh38] Chr13:23914114 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.8574_8577del (p.His2859fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000667339] |
Chr13:23335299..23335302 [GRCh38] Chr13:23909437..23909441 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000667371] |
Chr13:23335149 [GRCh38] Chr13:23909288 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.6172del (p.Ser2058fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000667372] |
Chr13:23337704 [GRCh38] Chr13:23911842..23911843 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000670492] |
Chr13:23339308..23339311 [GRCh38] Chr13:23913446..23913450 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000670810] |
Chr13:23330592 [GRCh38] Chr13:23904731 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.6068del (p.Asn2023fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000670921] |
Chr13:23337808 [GRCh38] Chr13:23911946..23911947 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5238dup (p.Lys1747Ter) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000673869] |
Chr13:23338638 [GRCh38] Chr13:23912776 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.6353_6356del (p.Gly2118fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000670135] |
Chr13:23337520..23337523 [GRCh38] Chr13:23911658..23911662 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000677657] |
Chr13:23337535..23337538 [GRCh38] Chr13:23911674..23911677 [GRCh37] Chr13:13q12.12 |
pathogenic |
NM_014363.6(SACS):c.6856_6858AAG[1] (p.Lys2287del) |
microsatellite |
Spastic ataxia Charlevoix-Saguenay type [RCV000670787] |
Chr13:23337015..23337017 [GRCh38] Chr13:23911153..23911156 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000670846] |
Chr13:23334248..23334251 [GRCh38] Chr13:23908386..23908390 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000670862] |
Chr13:23340419 [GRCh38] Chr13:23914558 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg) |
single nucleotide variant |
not provided [RCV000676349] |
Chr13:23331934 [GRCh38] Chr13:23906073 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000674023] |
Chr13:23331941 [GRCh38] Chr13:23906080 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.2863A>T (p.Lys955Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000667512] |
Chr13:23341013 [GRCh38] Chr13:23915152 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000667624] |
Chr13:23338237 [GRCh38] Chr13:23912376 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7868del (p.Gly2623fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000671528] |
Chr13:23336008 [GRCh38] Chr13:23910146..23910147 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5937_5939del (p.Ser1980del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000671647] |
Chr13:23337937..23337939 [GRCh38] Chr13:23912075..23912078 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.11627_11628del (p.Thr3876fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000671709] |
Chr13:23332248..23332249 [GRCh38] Chr13:23906386..23906388 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.2434C>T (p.Gln812Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000674140] |
Chr13:23341442 [GRCh38] Chr13:23915581 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.5(SACS):c.4199_4200ins17 (p.?) |
insertion |
Spastic ataxia Charlevoix-Saguenay type [RCV000665635] |
Chr13:23339676..23339677 [GRCh38] Chr13:23913815 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.8956C>G (p.His2986Asp) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000674258] |
Chr13:23334920 [GRCh38] Chr13:23909059 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8305dup (p.Ile2769fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000665991] |
Chr13:23335571 [GRCh38] Chr13:23909709 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5281C>T (p.Gln1761Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000671001] |
Chr13:23338595 [GRCh38] Chr13:23912734 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000671025] |
Chr13:23331553 [GRCh38] Chr13:23905692 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.11772dup (p.Asp3925Ter) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000671109] |
Chr13:23332104 [GRCh38] Chr13:23906242 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.11428dup (p.Glu3810fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000674129] |
Chr13:23332448 [GRCh38] Chr13:23906586 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.3523_3527del (p.Gly1175fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000674267] |
Chr13:23340349..23340353 [GRCh38] Chr13:23914487..23914492 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.11713del (p.Ala3906fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000667644] |
Chr13:23332163 [GRCh38] Chr13:23906301..23906302 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.13349G>A (p.Trp4450Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000667694] |
Chr13:23330527 [GRCh38] Chr13:23904666 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8480C>A (p.Ser2827Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000667851] |
Chr13:23335396 [GRCh38] Chr13:23909535 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5618_5619del (p.Tyr1873fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000672744] |
Chr13:23338257..23338258 [GRCh38] Chr13:23912395..23912397 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.4233dup (p.Leu1412fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000672857] |
Chr13:23339643 [GRCh38] Chr13:23913781 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.1420C>T (p.Arg474Cys) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000664537] |
Chr13:23355192 [GRCh38] Chr13:23929331 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000666291] |
Chr13:23336433..23336440 [GRCh38] Chr13:23910571 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.832C>T (p.Gln278Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000666383] |
Chr13:23355780 [GRCh38] Chr13:23929919 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.10755_10757del (p.Phe3585del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000671400] |
Chr13:23333119..23333121 [GRCh38] Chr13:23907257..23907260 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.7796_7798ATG[1] (p.Asp2600del) |
microsatellite |
Spastic ataxia Charlevoix-Saguenay type [RCV000671465] |
Chr13:23336075..23336077 [GRCh38] Chr13:23910213..23910216 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.3831_3832dup (p.Val1278fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000671777] |
Chr13:23340044..23340045 [GRCh38] Chr13:23914182 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5988_5989CT[1] (p.Ser1997fs) |
microsatellite |
Spastic ataxia Charlevoix-Saguenay type [RCV000671797] |
Chr13:23337885..23337886 [GRCh38] Chr13:23912023..23912025 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.4495dup (p.Met1499fs) |
duplication |
Spastic ataxia Charlevoix-Saguenay type [RCV000671834] |
Chr13:23339381 [GRCh38] Chr13:23913519 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.6231_6233del (p.Met2077del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000668142] |
Chr13:23337643..23337645 [GRCh38] Chr13:23911781..23911784 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.1435_1436insTTT (p.Trp479_Arg480insPhe) |
insertion |
Spastic ataxia Charlevoix-Saguenay type [RCV000668148] |
Chr13:23355176..23355177 [GRCh38] Chr13:23929315 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.605-1G>A |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000668193] |
Chr13:23356008 [GRCh38] Chr13:23930147 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.6409C>T (p.Gln2137Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000666608] |
Chr13:23337467 [GRCh38] Chr13:23911606 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000672019] |
Chr13:23341257..23341262 [GRCh38] Chr13:23915395..23915401 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.3021_3023del (p.Glu1008del) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000674580] |
Chr13:23340853..23340855 [GRCh38] Chr13:23914991..23914994 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.8221del (p.Asn2742fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000666128] |
Chr13:23335655 [GRCh38] Chr13:23909793..23909794 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.5122del (p.Ala1708fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000668294] |
Chr13:23338754 [GRCh38] Chr13:23912892..23912893 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000668407] |
Chr13:23340202 [GRCh38] Chr13:23914341 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) |
single nucleotide variant |
Spastic ataxia Charlevoix-Saguenay type [RCV000668456] |
Chr13:23335768 [GRCh38] Chr13:23909907 [GRCh37] Chr13:13q12.12 |
uncertain significance |
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000668473] |
Chr13:23333493..23333497 [GRCh38] Chr13:23907631..23907636 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.7903del (p.Cys2635fs) |
deletion |
Spastic ataxia Charlevoix-Saguenay type [RCV000668512] |
Chr13:23335973 [GRCh38] Chr13:23910111..23910112 [GRCh37] Chr13:13q12.12 |
likely pathogenic |
NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter) |
single nucleotide variant |