| NM_001130089.1(KARS1):c.514_515dup (p.Tyr173fs) |
duplication |
Charcot-Marie-Tooth disease, recessive intermediate B [RCV000008648] |
Chr16:75636505..75636506 [GRCh38]
Chr16:75670403..75670404 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| NM_001130089.1(KARS1):c.398T>A (p.Leu133His) |
single nucleotide variant |
Charcot-Marie-Tooth disease, recessive intermediate B [RCV000008647] |
Chr16:75640258 [GRCh38]
Chr16:75674156 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 |
copy number gain |
Hydronephrosis [RCV000052422]|See cases [RCV000052422] |
Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3 |
pathogenic |
| GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052421]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052421]|See cases [RCV000052421] |
Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3 |
pathogenic |
| GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1 |
copy number loss |
Abnormality of the heart [RCV000053356]|See cases [RCV000053356] |
Chr16:69918076..76723348 [GRCh38]
Chr16:69951979..76757245 [GRCh37]
Chr16:68509480..75314746 [NCBI36]
Chr16:16q22.1-23.1 |
pathogenic |
| GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1 |
copy number loss |
Global developmental delay [RCV000053357]|See cases [RCV000053357] |
Chr16:73049467..82576326 [GRCh38]
Chr16:73083366..82609931 [GRCh37]
Chr16:71640867..81167432 [NCBI36]
Chr16:16q22.3-23.3 |
pathogenic |
| GRCh38/hg38 16q23.1(chr16:75163906-78064640)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053358]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053358]|See cases [RCV000053358] |
Chr16:75163906..78064640 [GRCh38]
Chr16:75197804..78098537 [GRCh37]
Chr16:73755305..76656038 [NCBI36]
Chr16:16q23.1 |
pathogenic |
| NM_001130089.1(KARS1):c.517T>C (p.Tyr173His) |
single nucleotide variant |
Deafness, autosomal recessive 89 [RCV000054525]|Nonsyndromic hearing loss and deafness [RCV000627042] |
Chr16:75636503 [GRCh38]
Chr16:75670401 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| NM_001130089.1(KARS1):c.1129G>A (p.Asp377Asn) |
single nucleotide variant |
Deafness, autosomal recessive 89 [RCV000054526] |
Chr16:75631726 [GRCh38]
Chr16:75665624 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| GRCh38/hg38 16q23.1(chr16:75581049-76337261)x3 |
copy number gain |
Nonsyndromic microcephaly [RCV000053895]|See cases [RCV000053895] |
Chr16:75581049..76337261 [GRCh38]
Chr16:75614947..76371158 [GRCh37]
Chr16:74172448..74928659 [NCBI36]
Chr16:16q23.1 |
uncertain significance |
| GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 |
copy number loss |
See cases [RCV000133814] |
Chr16:70414573..84908120 [GRCh38]
Chr16:70448476..84941726 [GRCh37]
Chr16:69005977..83499227 [NCBI36]
Chr16:16q22.1-24.1 |
pathogenic |
| GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 |
copy number gain |
See cases [RCV000135863] |
Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1 |
pathogenic |
| GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1 |
copy number loss |
See cases [RCV000135449] |
Chr16:75541502..79154140 [GRCh38]
Chr16:75575400..79188037 [GRCh37]
Chr16:74132901..77745538 [NCBI36]
Chr16:16q23.1 |
pathogenic |
| GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 |
copy number gain |
See cases [RCV000137495] |
Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3 |
pathogenic |
| NM_001130089.1(KARS1):c.307-6del |
deletion |
Charcot-Marie-Tooth disease, recessive intermediate B [RCV000625092]|not specified [RCV000202918] |
Chr16:75640355 [GRCh38]
Chr16:75674253 [GRCh37]
Chr16:16q23.1 |
benign |
| GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 |
copy number gain |
See cases [RCV000139426] |
Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3 |
pathogenic |
| GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 |
copy number gain |
See cases [RCV000139302] |
Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3 |
pathogenic |
| GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3 |
copy number gain |
See cases [RCV000139130] |
Chr16:74811982..75698467 [GRCh38]
Chr16:74845880..75732365 [GRCh37]
Chr16:73403381..74289866 [NCBI36]
Chr16:16q23.1 |
uncertain significance |
| GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3 |
copy number gain |
See cases [RCV000142038] |
Chr16:69053457..83274681 [GRCh38]
Chr16:69087360..83308286 [GRCh37]
Chr16:67644861..81865787 [NCBI36]
Chr16:16q22.1-23.3 |
pathogenic |
| GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 |
copy number gain |
See cases [RCV000142578] |
Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3 |
pathogenic|likely pathogenic |
| GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 |
copy number gain |
See cases [RCV000143425] |
Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3 |
pathogenic |
| GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3 |
copy number gain |
See cases [RCV000143189] |
Chr16:75227456..75731127 [GRCh38]
Chr16:75261354..75765025 [GRCh37]
Chr16:73818855..74322526 [NCBI36]
Chr16:16q23.1 |
uncertain significance |
| GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 |
copy number gain |
See cases [RCV000143742] |
Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3 |
pathogenic |
| GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 |
copy number gain |
See cases [RCV000240108] |
Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3 |
pathogenic |
| GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 |
copy number loss |
Ductal breast carcinoma [RCV000207138] |
Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3 |
uncertain significance |
| GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 |
copy number loss |
Ductal breast carcinoma [RCV000207182] |
Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3 |
uncertain significance |
| NM_001130089.1(KARS1):c.1163-7C>T |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000284674]|not provided [RCV000712052]|not specified [RCV000219543] |
Chr16:75631596 [GRCh38]
Chr16:75665494 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_001130089.1(KARS1):c.1868C>G (p.Thr623Ser) |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000395416]|not specified [RCV000223592] |
Chr16:75627905 [GRCh38]
Chr16:75661803 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_001130089.1(KARS1):c.-97G>T |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000270351]|not specified [RCV000217361] |
Chr16:75647640 [GRCh38]
Chr16:75681538 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.696A>G (p.Thr232=) |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000279624]|not specified [RCV000219788] |
Chr16:75635969 [GRCh38]
Chr16:75669867 [GRCh37]
Chr16:16q23.1 |
benign|likely benign|uncertain significance |
| NM_001130089.1(KARS1):c.-75G>T |
single nucleotide variant |
Inborn genetic diseases [RCV000210604] |
Chr16:75647618 [GRCh38]
Chr16:75681516 [GRCh37]
Chr16:16q23.1 |
likely pathogenic |
| NM_001130089.1(KARS1):c.792G>C (p.Leu264=) |
single nucleotide variant |
not specified [RCV000213450] |
Chr16:75635767 [GRCh38]
Chr16:75669665 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_001130089.1(KARS1):c.683C>T (p.Pro228Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV000210691]|Optic neuropathy [RCV000681462] |
Chr16:75635982 [GRCh38]
Chr16:75669880 [GRCh37]
Chr16:16q23.1 |
pathogenic|likely pathogenic |
| NM_001130089.1(KARS1):c.358G>C (p.Glu120Gln) |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000299691]|not specified [RCV000213605] |
Chr16:75640298 [GRCh38]
Chr16:75674196 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.1635+10G>A |
single nucleotide variant |
not specified [RCV000218072] |
Chr16:75629405 [GRCh38]
Chr16:75663303 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_001130089.1(KARS1):c.685T>C (p.Tyr229His) |
single nucleotide variant |
not specified [RCV000220351] |
Chr16:75635980 [GRCh38]
Chr16:75669878 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_001130089.1(KARS1):c.-92C>T |
single nucleotide variant |
not specified [RCV000213993] |
Chr16:75647635 [GRCh38]
Chr16:75681533 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.1569A>G (p.Ile523Met) |
single nucleotide variant |
not specified [RCV000220555] |
Chr16:75629481 [GRCh38]
Chr16:75663379 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.159A>G (p.Arg53=) |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000315001]|not specified [RCV000216275] |
Chr16:75641711 [GRCh38]
Chr16:75675609 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_001130089.1(KARS1):c.1758C>T (p.Leu586=) |
single nucleotide variant |
not specified [RCV000218685] |
Chr16:75628590 [GRCh38]
Chr16:75662488 [GRCh37]
Chr16:16q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| Single allele |
complex |
Ductal breast carcinoma [RCV000207314] |
Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3 |
uncertain significance |
| NM_001130089.1(KARS1):c.254A>G (p.Asn85Ser) |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000394691]|not provided [RCV000843286]|not specified [RCV000216707] |
Chr16:75641616 [GRCh38]
Chr16:75675514 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_001130089.1(KARS1):c.1342C>T (p.Arg448Cys) |
single nucleotide variant |
not specified [RCV000223236] |
Chr16:75631248 [GRCh38]
Chr16:75665146 [GRCh37]
Chr16:16q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001130089.1(KARS1):c.1522G>C (p.Glu508Gln) |
single nucleotide variant |
not specified [RCV000216965] |
Chr16:75629528 [GRCh38]
Chr16:75663426 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.*33G>A |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000305080] |
Chr16:75627862 [GRCh38]
Chr16:75661760 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_001130089.1(KARS1):c.1434G>C (p.Glu478Asp) |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000269510]|not specified [RCV000604193] |
Chr16:75630497 [GRCh38]
Chr16:75664395 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.1866C>T (p.Gly622=) |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000297892] |
Chr16:75627907 [GRCh38]
Chr16:75661805 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.1779+5G>A |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000262577] |
Chr16:75628564 [GRCh38]
Chr16:75662462 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.-108C>T |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000366025] |
Chr16:75647651 [GRCh38]
Chr16:75681549 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.43C>T (p.Arg15Cys) |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000369108] |
Chr16:75644386 [GRCh38]
Chr16:75678284 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.1554C>T (p.Val518=) |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000277669] |
Chr16:75629496 [GRCh38]
Chr16:75663394 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.*59G>A |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000395421] |
Chr16:75627836 [GRCh38]
Chr16:75661734 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_001130089.1(KARS1):c.-107C>T |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000306709] |
Chr16:75647650 [GRCh38]
Chr16:75681548 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.306+10C>T |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000349875]|not provided [RCV000841321] |
Chr16:75641554 [GRCh38]
Chr16:75675452 [GRCh37]
Chr16:16q23.1 |
likely benign|uncertain significance |
| NM_001130089.1(KARS1):c.1343G>A (p.Arg448His) |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000329007] |
Chr16:75631247 [GRCh38]
Chr16:75665145 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.753+6C>T |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000378745] |
Chr16:75635906 [GRCh38]
Chr16:75669804 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.566+8G>A |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000403562]|not provided [RCV000731339] |
Chr16:75636446 [GRCh38]
Chr16:75670344 [GRCh37]
Chr16:16q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001130089.1(KARS1):c.1551T>G (p.Phe517Leu) |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000332659] |
Chr16:75629499 [GRCh38]
Chr16:75663397 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.1333G>A (p.Glu445Lys) |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000383604] |
Chr16:75631419 [GRCh38]
Chr16:75665317 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.684G>A (p.Pro228=) |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000334590] |
Chr16:75635981 [GRCh38]
Chr16:75669879 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.1809C>T (p.Pro603=) |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000357377] |
Chr16:75627964 [GRCh38]
Chr16:75661862 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.1779+4C>T |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000312957] |
Chr16:75628565 [GRCh38]
Chr16:75662463 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.1509-13C>T |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000382684] |
Chr16:75629554 [GRCh38]
Chr16:75663452 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.1000-10T>G |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000339659] |
Chr16:75631865 [GRCh38]
Chr16:75665763 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.*26C>G |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000341307] |
Chr16:75627869 [GRCh38]
Chr16:75661767 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_001130089.1(KARS1):c.1051C>T (p.Arg351Trp) |
single nucleotide variant |
not specified [RCV000489266] |
Chr16:75631804 [GRCh38]
Chr16:75665702 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.988C>T (p.Leu330Phe) |
single nucleotide variant |
not specified [RCV000489757] |
Chr16:75634184 [GRCh38]
Chr16:75668082 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.1634A>G (p.Lys545Arg) |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000367658] |
Chr16:75629416 [GRCh38]
Chr16:75663314 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.241G>A (p.Ala81Thr) |
single nucleotide variant |
not specified [RCV000600033] |
Chr16:75641629 [GRCh38]
Chr16:75675527 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_001130089.1(KARS1):c.254A>T (p.Asn85Ile) |
single nucleotide variant |
not specified [RCV000601549] |
Chr16:75641616 [GRCh38]
Chr16:75675514 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.1556T>C (p.Met519Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV000624884] |
Chr16:75629494 [GRCh38]
Chr16:75663392 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.1099G>A (p.Glu367Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV000623761] |
Chr16:75631756 [GRCh38]
Chr16:75665654 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.1570T>C (p.Cys524Arg) |
single nucleotide variant |
not provided [RCV000732327] |
Chr16:75629480 [GRCh38]
Chr16:75663378 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.177G>T (p.Lys59Asn) |
single nucleotide variant |
not provided [RCV000731554] |
Chr16:75641693 [GRCh38]
Chr16:75675591 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 |
copy number gain |
See cases [RCV000446110] |
Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16q23.1(chr16:74150909-77077326)x1 |
copy number loss |
See cases [RCV000512133] |
Chr16:74150909..77077326 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.801T>G (p.Phe267Leu) |
single nucleotide variant |
not provided [RCV000767138]|not specified [RCV000478894] |
Chr16:75635758 [GRCh38]
Chr16:75669656 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.1262G>A (p.Arg421Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease, recessive intermediate B [RCV000625381]|not provided [RCV000755555]|not specified [RCV000506064] |
Chr16:75631490 [GRCh38]
Chr16:75665388 [GRCh37]
Chr16:16q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 |
copy number gain |
See cases [RCV000511622] |
Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3 |
uncertain significance |
| NM_001130089.1(KARS1):c.306+3G>A |
single nucleotide variant |
not specified [RCV000507810] |
Chr16:75641561 [GRCh38]
Chr16:75675459 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_001130089.1(KARS1):c.1268A>G (p.Asn423Ser) |
single nucleotide variant |
not specified [RCV000601714] |
Chr16:75631484 [GRCh38]
Chr16:75665382 [GRCh37]
Chr16:16q23.1 |
likely benign |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 |
copy number loss |
PARP Inhibitor response [RCV000626429] |
Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3 |
drug response |
| NM_001130089.1(KARS1):c.1532C>G (p.Thr511Ser) |
single nucleotide variant |
not specified [RCV000615627] |
Chr16:75629518 [GRCh38]
Chr16:75663416 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.982C>T (p.Pro328Ser) |
single nucleotide variant |
not specified [RCV000613113] |
Chr16:75634190 [GRCh38]
Chr16:75668088 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.243T>A (p.Ala81=) |
single nucleotide variant |
not specified [RCV000610613] |
Chr16:75641627 [GRCh38]
Chr16:75675525 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_001130089.1(KARS1):c.1761G>A (p.Thr587=) |
single nucleotide variant |
not specified [RCV000613574] |
Chr16:75628587 [GRCh38]
Chr16:75662485 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_001130089.1(KARS1):c.843T>C (p.Tyr281=) |
single nucleotide variant |
not specified [RCV000613739] |
Chr16:75635716 [GRCh38]
Chr16:75669614 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_001130089.1(KARS1):c.510C>T (p.Leu170=) |
single nucleotide variant |
not specified [RCV000609285] |
Chr16:75636510 [GRCh38]
Chr16:75670408 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_001130089.1(KARS1):c.307-7_307-6del |
deletion |
Charcot-Marie-Tooth disease, recessive intermediate B [RCV000625093] |
Chr16:75640355..75640356 [GRCh38]
Chr16:75674253..75674254 [GRCh37]
Chr16:16q23.1 |
benign |
| GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 |
copy number gain |
See cases [RCV000512511] |
Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3 |
pathogenic |
| NM_001130089.1(KARS1):c.1073C>T (p.Thr358Met) |
single nucleotide variant |
not specified [RCV000597828] |
Chr16:75631782 [GRCh38]
Chr16:75665680 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 |
copy number loss |
PARP Inhibitor response [RCV000626435] |
Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3 |
drug response |
| NM_001130089.1(KARS1):c.774A>T (p.Arg258Ser) |
single nucleotide variant |
not provided [RCV000660587] |
Chr16:75635785 [GRCh38]
Chr16:75669683 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.871T>G (p.Phe291Val) |
single nucleotide variant |
Optic neuropathy [RCV000681463] |
Chr16:75635688 [GRCh38]
Chr16:75669586 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| NM_001130089.1(KARS1):c.1438del (p.Leu480fs) |
deletion |
Sensorineural hearing loss [RCV000678489] |
Chr16:75630493 [GRCh38]
Chr16:75664391 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 |
copy number gain |
not provided [RCV000683831] |
Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16q23.1(chr16:75428474-75729424)x3 |
copy number gain |
not provided [RCV000739215] |
Chr16:75428474..75729424 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_001130089.1(KARS1):c.1340C>T |
variation |
not specified [RCV000825349] |
|
uncertain significance |
| NM_001130089.1(KARS1):c.665dup (p.Gly222_Glu223insTer) |
duplication |
Charcot-Marie-Tooth, Intermediate [RCV000778480] |
Chr16:75636002 [GRCh38]
Chr16:75669897 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NC_000016.10:g.75631330del |
deletion |
not provided [RCV000842038] |
Chr16:16q23.1 |
benign |
| NM_001130089.1(KARS1):c.-35+56A>G |
single nucleotide variant |
not provided [RCV000839265] |
Chr16:75647522 [GRCh38]
Chr16:75681420 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_001130089.1:c.306+10C>T |
single nucleotide variant |
not provided [RCV000841321] |
Chr16:75675452 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_001130089.1(KARS1):c.1788T>C (p.Leu596=) |
single nucleotide variant |
not provided [RCV000841417] |
Chr16:75627985 [GRCh38]
Chr16:75661883 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_001130089.1(KARS1):c.1359T>C |
variation |
not specified [RCV000825174] |
|
likely benign |
| NM_001130089.1(KARS1):c.1316C>T |
variation |
not specified [RCV000825942] |
|
uncertain significance |
| NM_001130089.1(KARS1):c.1464A>C (p.Thr488=) |
single nucleotide variant |
not provided [RCV000840678] |
Chr16:75630467 [GRCh38]
Chr16:75664365 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_001130089.1:c.566+8G>A |
single nucleotide variant |
not provided [RCV000840708] |
Chr16:75670344 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_001130089.1(KARS1):c.414A>G (p.Gln138=) |
single nucleotide variant |
not provided [RCV000827321] |
Chr16:75640242 [GRCh38]
Chr16:75674140 [GRCh37]
Chr16:16q23.1 |
likely benign |
| GRCh37/hg19 16q23.1(chr16:75275780-75684031)x1 |
copy number loss |
not provided [RCV000846687] |
Chr16:75275780..75684031 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.1000-85A>G |
single nucleotide variant |
not provided [RCV000838661] |
Chr16:75631940 [GRCh38]
Chr16:75665838 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_001130089.1(KARS1):c.472+74G>A |
single nucleotide variant |
not provided [RCV000842039] |
Chr16:75640110 [GRCh38]
Chr16:75674008 [GRCh37]
Chr16:16q23.1 |
benign |
| GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1 |
copy number loss |
not provided [RCV000847084] |
Chr16:72677179..77439111 [GRCh37]
Chr16:16q22.2-23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.906C>G (p.Ile302Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789994] |
Chr16:75634266 [GRCh38]
Chr16:75668164 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_001130089.1(KARS1):c.-184C>T |
single nucleotide variant |
not provided [RCV000843664] |
Chr16:75647727 [GRCh38]
Chr16:75681625 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_001130089.1(KARS1):c.524_525dup (p.Arg176fs) |
duplication |
Charcot-Marie-Tooth disease [RCV000789690] |
Chr16:75636495..75636496 [GRCh38]
Chr16:75670392..75670393 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
Gene-Chemical Interaction Annotations
