NM_002667.5(PLN):c.41G>T (p.Arg14Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1P [RCV000551751] |
Chr6:118558962 [GRCh38] Chr6:118880125 [GRCh37] Chr6:6q22.31 |
uncertain significance |
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 |
copy number loss |
Congenital diaphragmatic hernia [RCV000051196]|See cases [RCV000051196] |
Chr6:108944899..132067720 [GRCh38] Chr6:109266102..132388860 [GRCh37] Chr6:109372795..132430553 [NCBI36] Chr6:6q21-23.2 |
pathogenic |
GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1 |
copy number loss |
Abnormality of the eyebrow [RCV000052196]|See cases [RCV000052196] |
Chr6:115601230..128514324 [GRCh38] Chr6:115922394..128835469 [GRCh37] Chr6:116029087..128877162 [NCBI36] Chr6:6q22.1-22.33 |
pathogenic |
GRCh38/hg38 6q22.31(chr6:118229864-118723034)x3 |
copy number gain |
Nonsyndromic microcephaly [RCV000053370]|See cases [RCV000053370] |
Chr6:118229864..118723034 [GRCh38] Chr6:118551027..119044197 [GRCh37] Chr6:118657720..119150890 [NCBI36] Chr6:6q22.31 |
uncertain significance |
GRCh38/hg38 6q22.31(chr6:118390687-118736132)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053371]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053371]|See cases [RCV000053371] |
Chr6:118390687..118736132 [GRCh38] Chr6:118711850..119057295 [GRCh37] Chr6:118818543..119163988 [NCBI36] Chr6:6q22.31 |
uncertain significance |
GRCh38/hg38 6q22.31(chr6:118509086-119604498)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053372]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053372]|See cases [RCV000053372] |
Chr6:118509086..119604498 [GRCh38] Chr6:118830249..119925663 [GRCh37] Chr6:118936942..119967362 [NCBI36] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.37_39AGA[1] (p.Arg14del) |
microsatellite |
Arrhythmogenic right ventricular cardiomyopathy [RCV000157422]|Arrhythmogenic right ventricular cardiomyopathy, type 9 [RCV000491072]|Cardiomyopathy [RCV000183818]|Cardiovascular phenotype [RCV000244830]|Dilated cardiomyopathy 1P [RCV000037582]|Dilated cardiomyopathy 1P [RCV000151665]|Dilated cardiomyopathy 1P [RCV000233546]|Primary dilated cardiomyopathy [RCV000037582]|Primary familial hypertrophic cardiomyopathy [RCV000157421]|not provided [RCV000212833] |
Chr6:118558961..118558963 [GRCh38] Chr6:118880124..118880126 [GRCh37] Chr6:6q22.31 |
pathogenic|likely pathogenic |
NM_002667.5(PLN):c.*4T>A |
single nucleotide variant |
AllHighlyPenetrant [RCV000037578]|not specified [RCV000037578] |
Chr6:118559084 [GRCh38] Chr6:118880247 [GRCh37] Chr6:6q22.31 |
likely benign |
NM_002667.5(PLN):c.152T>C (p.Leu51Pro) |
single nucleotide variant |
AllHighlyPenetrant [RCV000037579]|not specified [RCV000037579] |
Chr6:118559073 [GRCh38] Chr6:118880236 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.43G>A (p.Ala15Thr) |
single nucleotide variant |
AllHighlyPenetrant [RCV000037583]|not specified [RCV000037583] |
Chr6:118558964 [GRCh38] Chr6:118880127 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.61C>A (p.Pro21Thr) |
single nucleotide variant |
AllHighlyPenetrant [RCV000037584]|not provided [RCV000845566]|not specified [RCV000037584] |
Chr6:118558982 [GRCh38] Chr6:118880145 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.25C>T (p.Arg9Cys) |
single nucleotide variant |
Cardiomyopathy [RCV000183815]|Cardiomyopathy [RCV000769213]|Dilated cardiomyopathy 1P [RCV000014606]|Primary dilated cardiomyopathy [RCV000211844] |
Chr6:118558946 [GRCh38] Chr6:118880109 [GRCh37] Chr6:6q22.31 |
pathogenic |
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) |
single nucleotide variant |
Cardiac arrest [RCV000157420]|Cardiomyopathy [RCV000770226]|Cardiovascular phenotype [RCV000621703]|Dilated cardiomyopathy 1P [RCV000014607]|Dilated cardiomyopathy 1P [RCV000151666]|Dilated cardiomyopathy [RCV000171826]|Familial hypertrophic cardiomyopathy 18 [RCV000022712]|Hypertrophic cardiomyopathy [RCV000151666]|Primary dilated cardiomyopathy [RCV000171826]|Primary familial Hypertrophic cardiomyopathy [RCV000151666]|Sudden cardiac death [RCV000157419]|not provided [RCV000523391] |
Chr6:118559037 [GRCh38] Chr6:118880200 [GRCh37] Chr6:6q22.31 |
pathogenic|likely pathogenic |
NM_002667.5(PLN):c.27C>T (p.Arg9=) |
single nucleotide variant |
AllHighlyPenetrant [RCV000037580]|Cardiomyopathy [RCV000769214]|Cardiovascular phenotype [RCV000621419]|Dilated cardiomyopathy 1P [RCV000465487]|not specified [RCV000037580] |
Chr6:118558948 [GRCh38] Chr6:118880111 [GRCh37] Chr6:6q22.31 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3 |
copy number gain |
See cases [RCV000137726] |
Chr6:117607147..126699980 [GRCh38] Chr6:117928310..127021125 [GRCh37] Chr6:118035003..127062818 [NCBI36] Chr6:6q22.1-22.32 |
pathogenic |
GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1 |
copy number loss |
See cases [RCV000139944] |
Chr6:116815199..119718887 [GRCh38] Chr6:117136362..120040041 [GRCh37] Chr6:117243055..120081740 [NCBI36] Chr6:6q22.1-22.31 |
likely pathogenic |
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 |
copy number loss |
See cases [RCV000139465] |
Chr6:96609994..122161548 [GRCh38] Chr6:97057870..122482694 [GRCh37] Chr6:97164591..122524393 [NCBI36] Chr6:6q16.1-22.31 |
pathogenic |
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 |
copy number gain |
See cases [RCV000139729] |
Chr6:74382807..142040500 [GRCh38] Chr6:75092523..142361637 [GRCh37] Chr6:75149243..142403330 [NCBI36] Chr6:6q13-24.1 |
pathogenic |
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 |
copy number loss |
See cases [RCV000141587] |
Chr6:106503719..125781219 [GRCh38] Chr6:106951594..126102365 [GRCh37] Chr6:107058287..126144058 [NCBI36] Chr6:6q21-22.31 |
pathogenic |
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 |
copy number loss |
See cases [RCV000143227] |
Chr6:100054889..120488154 [GRCh38] Chr6:100502765..120809300 [GRCh37] Chr6:100609486..120850999 [NCBI36] Chr6:6q16.3-22.31 |
pathogenic |
NM_002667.5(PLN):c.2T>C (p.Met1Thr) |
single nucleotide variant |
not specified [RCV000151663] |
Chr6:118558923 [GRCh38] Chr6:118880086 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.37dup (p.Arg13fs) |
duplication |
not specified [RCV000151664] |
Chr6:118558958 [GRCh38] Chr6:118880121 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NC_000006.11:g.(117810940_117810996)_(119417693_119417749)del |
deletion |
Autistic behavior [RCV000157072] |
Chr6:117810996..119417693 [GRCh37] Chr6:6q22.1-22.31 |
pathogenic |
NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del |
deletion |
Delayed speech and language development [RCV000157076] |
Chr6:116735056..119687719 [GRCh37] Chr6:6q22.1-22.31 |
pathogenic |
NM_002667.5(PLN):c.145G>A (p.Val49Met) |
single nucleotide variant |
Cardiomyopathy [RCV000183814]|not specified [RCV000183814] |
Chr6:118559066 [GRCh38] Chr6:118880229 [GRCh37] Chr6:6q22.31 |
likely benign|uncertain significance |
NM_002667.5(PLN):c.26G>A (p.Arg9His) |
single nucleotide variant |
Cardiomyopathy [RCV000183816]|not specified [RCV000183816] |
Chr6:118558947 [GRCh38] Chr6:118880110 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.73C>G (p.Arg25Gly) |
single nucleotide variant |
Cardiomyopathy [RCV000183817]|not specified [RCV000183817] |
Chr6:118558994 [GRCh38] Chr6:118880157 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) |
duplication |
Cardiomyopathy [RCV000183819]|Hypertrophic cardiomyopathy [RCV000852566]|not specified [RCV000486215] |
Chr6:118558984..118558985 [GRCh38] Chr6:118880147..118880148 [GRCh37] Chr6:6q22.31 |
likely pathogenic|uncertain significance |
NM_002667.5(PLN):c.73C>T (p.Arg25Cys) |
single nucleotide variant |
Cardiomyopathy [RCV000183820]|not specified [RCV000183820] |
Chr6:118558994 [GRCh38] Chr6:118880157 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.131T>C (p.Leu44Pro) |
single nucleotide variant |
Familial hypertrophic cardiomyopathy 18 [RCV000184030] |
Chr6:118559052 [GRCh38] Chr6:118880215 [GRCh37] Chr6:6q22.31 |
likely pathogenic|uncertain significance |
NM_002667.5(PLN):c.*89A>G |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000264598]|Hypertrophic cardiomyopathy [RCV000359256] |
Chr6:118559169 [GRCh38] Chr6:118880332 [GRCh37] Chr6:6q22.31 |
likely benign |
NM_001042475.3(CEP85L):c.1020+17275G>C |
single nucleotide variant |
Dilated cardiomyopathy 1P [RCV000205657] |
Chr6:118548254 [GRCh38] Chr6:118869417 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.14A>G (p.Gln5Arg) |
single nucleotide variant |
not specified [RCV000222681] |
Chr6:118558935 [GRCh38] Chr6:118880098 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.67C>G (p.Gln23Glu) |
single nucleotide variant |
not specified [RCV000216465] |
Chr6:118558988 [GRCh38] Chr6:118880151 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.34A>G (p.Ile12Val) |
single nucleotide variant |
Dilated cardiomyopathy 1P [RCV000229704]|not specified [RCV000214972] |
Chr6:118558955 [GRCh38] Chr6:118880118 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_001042475.3(CEP85L):c.1020+17280C>A |
single nucleotide variant |
Dilated cardiomyopathy 1P [RCV000226185] |
Chr6:118548249 [GRCh38] Chr6:118869412 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.4(PLN):c.-211-218C>T |
single nucleotide variant |
Dilated cardiomyopathy 1P [RCV000228905] |
Chr6:118548061 [GRCh38] Chr6:118869224 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.*1243C>T |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000393417]|Hypertrophic cardiomyopathy [RCV000286465] |
Chr6:118560323 [GRCh38] Chr6:118881486 [GRCh37] Chr6:6q22.31 |
uncertain significance |
GRCh37/hg19 6q22.31(chr6:118787404-119016296)x4 |
copy number gain |
See cases [RCV000240362] |
Chr6:118787404..119016296 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.-142T>A |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000352591]|Hypertrophic cardiomyopathy [RCV000390348] |
Chr6:118548348 [GRCh38] Chr6:118869511 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.*1180A>G |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000384994]|Hypertrophic cardiomyopathy [RCV000325719] |
Chr6:118560260 [GRCh38] Chr6:118881423 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.-97-5T>C |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000272845]|Hypertrophic cardiomyopathy [RCV000309263] |
Chr6:118558820 [GRCh38] Chr6:118879983 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.-120C>T |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000308484]|Hypertrophic cardiomyopathy [RCV000363133] |
Chr6:118548370 [GRCh38] Chr6:118869533 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.*415T>C |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000295748]|Hypertrophic cardiomyopathy [RCV000350712] |
Chr6:118559495 [GRCh38] Chr6:118880658 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.*250T>C |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000280631]|Hypertrophic cardiomyopathy [RCV000375158] |
Chr6:118559330 [GRCh38] Chr6:118880493 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.-150G>A |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000312021]|Hypertrophic cardiomyopathy [RCV000401502] |
Chr6:118548340 [GRCh38] Chr6:118869503 [GRCh37] Chr6:6q22.31 |
likely benign |
NM_002667.5(PLN):c.*397T>G |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000385448]|Hypertrophic cardiomyopathy [RCV000349616] |
Chr6:118559477 [GRCh38] Chr6:118880640 [GRCh37] Chr6:6q22.31 |
likely benign |
NM_002667.5(PLN):c.*1070T>A |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000318589]|Hypertrophic cardiomyopathy [RCV000368623] |
Chr6:118560150 [GRCh38] Chr6:118881313 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.*891C>T |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000354543]|Hypertrophic cardiomyopathy [RCV000259677] |
Chr6:118559971 [GRCh38] Chr6:118881134 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.*199T>A |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000261181]|Hypertrophic cardiomyopathy [RCV000316452] |
Chr6:118559279 [GRCh38] Chr6:118880442 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.*1135C>T |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000274039]|Hypertrophic cardiomyopathy [RCV000333775] |
Chr6:118560215 [GRCh38] Chr6:118881378 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.*840_*841del |
deletion |
Dilated Cardiomyopathy, Dominant [RCV000303255]|Hypertrophic cardiomyopathy [RCV000358047] |
Chr6:118559920..118559921 [GRCh38] Chr6:118881083..118881084 [GRCh37] Chr6:6q22.31 |
likely benign |
NM_002667.5(PLN):c.*877T>C |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000304417]|Hypertrophic cardiomyopathy [RCV000407904] |
Chr6:118559957 [GRCh38] Chr6:118881120 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.*581C>T |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000347568]|Hypertrophic cardiomyopathy [RCV000401152] |
Chr6:118559661 [GRCh38] Chr6:118880824 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.132_152dup (p.Ile45_Leu51dup) |
duplication |
Dilated cardiomyopathy 1P [RCV000550821] |
Chr6:118559053..118559073 [GRCh38] Chr6:118880216..118880236 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.*436_*438del |
deletion |
Dilated Cardiomyopathy, Dominant [RCV000400268]|Hypertrophic cardiomyopathy [RCV000287526] |
Chr6:118559516..118559518 [GRCh38] Chr6:118880679..118880681 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.*90G>A |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000324565]|Hypertrophic cardiomyopathy [RCV000379068] |
Chr6:118559170 [GRCh38] Chr6:118880333 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.*1172T>C |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000388373]|Hypertrophic cardiomyopathy [RCV000289365] |
Chr6:118560252 [GRCh38] Chr6:118881415 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.*1225C>T |
single nucleotide variant |
Dilated Cardiomyopathy, Dominant [RCV000290070]|Hypertrophic cardiomyopathy [RCV000340312] |
Chr6:118560305 [GRCh38] Chr6:118881468 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.29C>T (p.Ser10Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1P [RCV000539278] |
Chr6:118558950 [GRCh38] Chr6:118880113 [GRCh37] Chr6:6q22.31 |
uncertain significance |
GRCh37/hg19 6q22.2-22.31(chr6:118490533-119281981)x3 |
copy number gain |
See cases [RCV000449282] |
Chr6:118490533..119281981 [GRCh37] Chr6:6q22.2-22.31 |
uncertain significance |
GRCh37/hg19 6q22.31(chr6:118767972-119044197)x3 |
copy number gain |
not specified [RCV000451178] |
Chr6:118767972..119044197 [GRCh37] Chr6:6q22.31 |
uncertain significance |
GRCh37/hg19 6q22.31(chr6:118787404-119016237)x3 |
copy number gain |
See cases [RCV000446973] |
Chr6:118787404..119016237 [GRCh37] Chr6:6q22.31 |
benign |
GRCh37/hg19 6q22.31(chr6:118787404-118830249)x3 |
copy number gain |
See cases [RCV000446542] |
Chr6:118787404..118830249 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.-14G>A |
single nucleotide variant |
not specified [RCV000438695] |
Chr6:118558908 [GRCh38] Chr6:118880071 [GRCh37] Chr6:6q22.31 |
likely benign |
NM_002667.5(PLN):c.-40C>T |
single nucleotide variant |
not specified [RCV000435738] |
Chr6:118558882 [GRCh38] Chr6:118880045 [GRCh37] Chr6:6q22.31 |
likely benign |
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 |
copy number loss |
See cases [RCV000445666] |
Chr6:85988428..120548687 [GRCh37] Chr6:6q14.3-22.31 |
pathogenic |
NM_002667.5(PLN):c.*17C>G |
single nucleotide variant |
not specified [RCV000433383] |
Chr6:118559097 [GRCh38] Chr6:118880260 [GRCh37] Chr6:6q22.31 |
likely benign |
NM_002667.5(PLN):c.-98+17G>A |
single nucleotide variant |
not specified [RCV000440363] |
Chr6:118548409 [GRCh38] Chr6:118869572 [GRCh37] Chr6:6q22.31 |
likely benign |
GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1 |
copy number loss |
6q21-6q22.1 deletion [RCV000416567] |
Chr6:112069445..120994664 [GRCh37] Chr6:6q21-22.31 |
likely pathogenic |
GRCh37/hg19 6q22.31(chr6:118723496-119070814)x3 |
copy number gain |
See cases [RCV000448267] |
Chr6:118723496..119070814 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.22A>C (p.Thr8Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1P [RCV000466823] |
Chr6:118558943 [GRCh38] Chr6:118880106 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.74G>A (p.Arg25His) |
single nucleotide variant |
Dilated cardiomyopathy 1P [RCV000460010]|not provided [RCV000786193] |
Chr6:118558995 [GRCh38] Chr6:118880158 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.4(PLN):c.-97-?_*1344+?dup1600 |
duplication |
Dilated cardiomyopathy 1P [RCV000226850] |
Chr6:118558825..118560424 [GRCh38] Chr6:118879988..118881587 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_001042475.3(CEP85L):c.1020+17269T>G |
single nucleotide variant |
not specified [RCV000454553] |
Chr6:118548260 [GRCh38] Chr6:118869423 [GRCh37] Chr6:6q22.31 |
benign |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 |
copy number gain |
See cases [RCV000512067] |
Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_002667.5(PLN):c.143_158delinsGC (p.Ile48fs) |
indel |
not specified [RCV000481635] |
Chr6:118559064..118559079 [GRCh38] Chr6:118880227..118880242 [GRCh37] Chr6:6q22.31 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) |
copy number gain |
See cases [RCV000510595] |
Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 |
copy number loss |
PARP Inhibitor response [RCV000626432] |
Chr6:112939290..132327952 [GRCh37] Chr6:6q21-23.2 |
drug response |
NC_000006.11:g.(?_118869382)_(118880263_?)dup |
duplication |
Dilated cardiomyopathy 1P [RCV000533816] |
Chr6:118548219..118559100 [GRCh38] Chr6:118869382..118880263 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.-4T>A |
single nucleotide variant |
Cardiovascular phenotype [RCV000617775] |
Chr6:118558918 [GRCh38] Chr6:118880081 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_001042475.3(CEP85L):c.182C>T (p.Ser61Phe) |
single nucleotide variant |
Lissencephaly [RCV000656104] |
Chr6:118632503 [GRCh38] Chr6:118953666 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.113T>C (p.Ile38Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1P [RCV000639860] |
Chr6:118559034 [GRCh38] Chr6:118880197 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.27C>A (p.Arg9=) |
single nucleotide variant |
not specified [RCV000612478] |
Chr6:118558948 [GRCh38] Chr6:118880111 [GRCh37] Chr6:6q22.31 |
likely benign |
GRCh37/hg19 6q22.31(chr6:118605441-119145799)x3 |
copy number gain |
not provided [RCV000682715] |
Chr6:118605441..119145799 [GRCh37] Chr6:6q22.31 |
uncertain significance |
GRCh37/hg19 6q22.31(chr6:118735778-119146017)x3 |
copy number gain |
not provided [RCV000682716] |
Chr6:118735778..119146017 [GRCh37] Chr6:6q22.31 |
uncertain significance |
GRCh37/hg19 6q22.31(chr6:119015305-119092600)x1 |
copy number loss |
not provided [RCV000682717] |
Chr6:119015305..119092600 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NC_000006.11:g.118823423_118880554dup |
duplication |
Ebstein anomaly of the tricuspid valve [RCV000677104]|Ebstein's anomaly of the tricuspid valve [RCV000677104] |
Chr6:118823423..118880554 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.53T>C (p.Ile18Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1P [RCV000695526] |
Chr6:118558974 [GRCh38] Chr6:118880137 [GRCh37] Chr6:6q22.31 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 |
copy number gain |
not provided [RCV000745403] |
Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 |
copy number gain |
not provided [RCV000745400] |
Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 |
copy number gain |
not provided [RCV000745404] |
Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6q22.31(chr6:119013079-119013755)x1 |
copy number loss |
not provided [RCV000746001] |
Chr6:119013079..119013755 [GRCh37] Chr6:6q22.31 |
benign |
GRCh37/hg19 6q22.31(chr6:119013183-119020091)x1 |
copy number loss |
not provided [RCV000746002] |
Chr6:119013183..119020091 [GRCh37] Chr6:6q22.31 |
benign |
NM_002667.5(PLN):c.36A>G (p.Ile12Met) |
single nucleotide variant |
Cardiomyopathy [RCV000769215] |
Chr6:118558957 [GRCh38] Chr6:118880120 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.148A>C (p.Met50Leu) |
single nucleotide variant |
Cardiomyopathy [RCV000770227] |
Chr6:118559069 [GRCh38] Chr6:118880232 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NM_002667.5(PLN):c.-98+15T>A |
single nucleotide variant |
not provided [RCV000842326] |
Chr6:118548407 [GRCh38] Chr6:118869570 [GRCh37] Chr6:6q22.31 |
likely benign |
NC_000006.11:g.(?_118869224)_(118880253_?)dup |
duplication |
Dilated cardiomyopathy 1P [RCV000794813] |
Chr6:118548061..118559090 [GRCh38] Chr6:118869224..118880253 [GRCh37] Chr6:6q22.31 |
uncertain significance |
NC_000006.11:g.(?_118869224)_(118880253_?)del |
deletion |
Dilated cardiomyopathy 1P [RCV000814611] |
Chr6:118548061..118559090 [GRCh38] Chr6:118869224..118880253 [GRCh37] Chr6:6q22.31 |
pathogenic |
NM_002667.5(PLN):c.-97-105A>G |
single nucleotide variant |
not provided [RCV000835377] |
Chr6:118558720 [GRCh38] Chr6:118879883 [GRCh37] Chr6:6q22.31 |
likely benign |
NM_002667.5(PLN):c.-97-53T>A |
single nucleotide variant |
not provided [RCV000834683] |
Chr6:118558772 [GRCh38] Chr6:118879935 [GRCh37] Chr6:6q22.31 |
likely benign |
GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1 |
copy number loss |
not provided [RCV000848701] |
Chr6:110981075..119608396 [GRCh37] Chr6:6q21-22.31 |
pathogenic |
GRCh37/hg19 6q22.31(chr6:118791787-119082978)x3 |
copy number gain |
not provided [RCV000846426] |
Chr6:118791787..119082978 [GRCh37] Chr6:6q22.31 |
uncertain significance |