| NM_005548.3(KARS1):c.1493C>T (p.Ala498Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 89 [RCV000986181]|Leukodystrophy [RCV000856838]|Sensorineural hearing loss disorder [RCV001269077]|not provided [RCV003558621] |
Chr16:75629473 [GRCh38]
Chr16:75663371 [GRCh37]
Chr16:16q23.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_005548.3(KARS1):c.430_431dup (p.Tyr145fs) |
duplication |
Charcot-Marie-Tooth disease recessive intermediate B [RCV000008648] |
Chr16:75636504..75636505 [GRCh38]
Chr16:75670402..75670403 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| NM_005548.3(KARS1):c.314T>A (p.Leu105His) |
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 |
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 |
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 |
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 |
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_005548.3(KARS1):c.433T>C (p.Tyr145His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 89 [RCV000054525]|Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV001807772]|Nonsyndromic genetic hearing loss [RCV000627042] |
Chr16:75636503 [GRCh38]
Chr16:75670401 [GRCh37]
Chr16:16q23.1 |
pathogenic|uncertain significance |
| NM_005548.3(KARS1):c.1045G>A (p.Asp349Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 89 [RCV000054526]|not provided [RCV001775565] |
Chr16:75631726 [GRCh38]
Chr16:75665624 [GRCh37]
Chr16:16q23.1 |
pathogenic|uncertain significance |
| GRCh38/hg38 16q23.1(chr16:75581049-76337261)x3 |
copy number gain |
See cases [RCV000053895] |
Chr16:75581049..76337261 [GRCh38]
Chr16:75614947..76371158 [GRCh37]
Chr16:74172448..74928659 [NCBI36]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.805C>G (p.Pro269Ala) |
single nucleotide variant |
Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV003126398] |
Chr16:75634283 [GRCh38]
Chr16:75668181 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1573G>A (p.Glu525Lys) |
single nucleotide variant |
Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV001293657] |
Chr16:75628691 [GRCh38]
Chr16:75662589 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| 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_005548.3(KARS1):c.223-6del |
deletion |
Charcot-Marie-Tooth disease recessive intermediate B [RCV000625092]|not provided [RCV001573008]|not specified [RCV000202918] |
Chr16:75640355 [GRCh38]
Chr16:75674253 [GRCh37]
Chr16:16q23.1 |
benign|likely 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 |
Breast ductal adenocarcinoma [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 |
Breast ductal adenocarcinoma [RCV000207182] |
Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3 |
uncertain significance |
| NM_005548.3(KARS1):c.1079-7C>T |
single nucleotide variant |
not provided [RCV000712052]|not specified [RCV000219543] |
Chr16:75631596 [GRCh38]
Chr16:75665494 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_005548.3(KARS1):c.1784C>G (p.Thr595Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 89 [RCV000986180]|not provided [RCV001511647]|not specified [RCV000223592] |
Chr16:75627905 [GRCh38]
Chr16:75661803 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.-1G>T |
single nucleotide variant |
not specified [RCV000217361] |
Chr16:75647640 [GRCh38]
Chr16:75681538 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.612A>G (p.Thr204=) |
single nucleotide variant |
KARS1-related disorder [RCV004530295]|not provided [RCV000959291]|not specified [RCV000219788] |
Chr16:75635969 [GRCh38]
Chr16:75669867 [GRCh37]
Chr16:16q23.1 |
benign|likely benign|uncertain significance |
| NM_005548.3(KARS1):c.22G>T (p.Glu8Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000210604] |
Chr16:75647618 [GRCh38]
Chr16:75681516 [GRCh37]
Chr16:16q23.1 |
likely pathogenic |
| NM_005548.3(KARS1):c.708G>C (p.Leu236=) |
single nucleotide variant |
not specified [RCV000213450] |
Chr16:75635767 [GRCh38]
Chr16:75669665 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 89 [RCV000986183]|Charcot-Marie-Tooth disease recessive intermediate B [RCV003147413]|Deafness, congenital, and adult-onset progressive leukoencephalopathy [RCV001293662]|Inborn genetic diseases [RCV000210691]|KARS-related disorder [RCV001265601]|KARS1-related disorder [RCV001526444]|LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS [RCV001293661]|Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV002463662]|Optic neuropathy [RCV000681462]|not provided [RCV001775672] |
Chr16:75635982 [GRCh38]
Chr16:75669880 [GRCh37]
Chr16:16q23.1 |
pathogenic|likely pathogenic |
| NM_005548.3(KARS1):c.274G>C (p.Glu92Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease recessive intermediate B [RCV002485386]|not provided [RCV001507345]|not specified [RCV000213605] |
Chr16:75640298 [GRCh38]
Chr16:75674196 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1551+10G>A |
single nucleotide variant |
not provided [RCV003565394]|not specified [RCV000218072] |
Chr16:75629405 [GRCh38]
Chr16:75663303 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.601T>C (p.Tyr201His) |
single nucleotide variant |
not provided [RCV001521070]|not specified [RCV000220351] |
Chr16:75635980 [GRCh38]
Chr16:75669878 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.5C>T (p.Ala2Val) |
single nucleotide variant |
not specified [RCV000213993] |
Chr16:75647635 [GRCh38]
Chr16:75681533 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1485A>G (p.Ile495Met) |
single nucleotide variant |
Hearing impairment [RCV001375243]|not provided [RCV000992213]|not specified [RCV000220555] |
Chr16:75629481 [GRCh38]
Chr16:75663379 [GRCh37]
Chr16:16q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005548.3(KARS1):c.75A>G (p.Arg25=) |
single nucleotide variant |
not provided [RCV001513117]|not specified [RCV000216275] |
Chr16:75641711 [GRCh38]
Chr16:75675609 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_005548.3(KARS1):c.1674C>T (p.Leu558=) |
single nucleotide variant |
not provided [RCV000957451]|not specified [RCV000218685] |
Chr16:75628590 [GRCh38]
Chr16:75662488 [GRCh37]
Chr16:16q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| Single allele |
complex |
Breast ductal adenocarcinoma [RCV000207314] |
Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3 |
uncertain significance |
| NM_005548.3(KARS1):c.170A>G (p.Asn57Ser) |
single nucleotide variant |
not provided [RCV000843286]|not specified [RCV000216707] |
Chr16:75641616 [GRCh38]
Chr16:75675514 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_005548.3(KARS1):c.1258C>T (p.Arg420Cys) |
single nucleotide variant |
KARS1-related disorder [RCV004530270]|not provided [RCV000957423]|not specified [RCV000223236] |
Chr16:75631248 [GRCh38]
Chr16:75665146 [GRCh37]
Chr16:16q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_005548.3(KARS1):c.1438G>C (p.Glu480Gln) |
single nucleotide variant |
not provided [RCV002517557]|not specified [RCV000216965] |
Chr16:75629528 [GRCh38]
Chr16:75663426 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.797T>C (p.Ile266Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 89 [RCV001374668]|not provided [RCV002469383] |
Chr16:75634291 [GRCh38]
Chr16:75668189 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.*33G>A |
single nucleotide variant |
not provided [RCV001592305] |
Chr16:75627862 [GRCh38]
Chr16:75661760 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1350G>C (p.Glu450Asp) |
single nucleotide variant |
not provided [RCV002522891]|not specified [RCV000604193] |
Chr16:75630497 [GRCh38]
Chr16:75664395 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1782C>T (p.Gly594=) |
single nucleotide variant |
KARS1-related disorder [RCV004536234]|not provided [RCV001613485] |
Chr16:75627907 [GRCh38]
Chr16:75661805 [GRCh37]
Chr16:16q23.1 |
benign|uncertain significance |
| NM_005548.3(KARS1):c.1695+5G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 89 [RCV001290015] |
Chr16:75628564 [GRCh38]
Chr16:75662462 [GRCh37]
Chr16:16q23.1 |
likely benign|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_005548.3(KARS1):c.63-2663C>T |
single nucleotide variant |
not provided [RCV001812853]|not specified [RCV004021676] |
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_005548.3(KARS1):c.*59G>A |
single nucleotide variant |
not provided [RCV001565801] |
Chr16:75627836 [GRCh38]
Chr16:75661734 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.-11C>T |
single nucleotide variant |
not provided [RCV001759093] |
Chr16:75647650 [GRCh38]
Chr16:75681548 [GRCh37]
Chr16:16q23.1 |
likely benign|uncertain significance |
| NM_005548.3(KARS1):c.222+10C>T |
single nucleotide variant |
not provided [RCV000841321] |
Chr16:75641554 [GRCh38]
Chr16:75675452 [GRCh37]
Chr16:16q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005548.3(KARS1):c.1259G>A (p.Arg420His) |
single nucleotide variant |
not provided [RCV002579865]|not specified [RCV004631998] |
Chr16:75631247 [GRCh38]
Chr16:75665145 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.669+6C>T |
single nucleotide variant |
not provided [RCV001560453] |
Chr16:75635906 [GRCh38]
Chr16:75669804 [GRCh37]
Chr16:16q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005548.3(KARS1):c.482+8G>A |
single nucleotide variant |
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_005548.3(KARS1):c.600G>A (p.Pro200=) |
single nucleotide variant |
not provided [RCV001757545] |
Chr16:75635981 [GRCh38]
Chr16:75669879 [GRCh37]
Chr16:16q23.1 |
likely benign|uncertain significance |
| NM_005548.3(KARS1):c.1725C>T (p.Pro575=) |
single nucleotide variant |
not provided [RCV002589157] |
Chr16:75627964 [GRCh38]
Chr16:75661862 [GRCh37]
Chr16:16q23.1 |
benign|uncertain significance |
| NM_005548.3(KARS1):c.1695+4C>T |
single nucleotide variant |
not provided [RCV001508414] |
Chr16:75628565 [GRCh38]
Chr16:75662463 [GRCh37]
Chr16:16q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005548.3(KARS1):c.1425-13C>T |
single nucleotide variant |
not provided [RCV001539199] |
Chr16:75629554 [GRCh38]
Chr16:75663452 [GRCh37]
Chr16:16q23.1 |
likely benign|uncertain significance |
| NM_005548.3(KARS1):c.916-10T>G |
single nucleotide variant |
not provided [RCV002237049] |
Chr16:75631865 [GRCh38]
Chr16:75665763 [GRCh37]
Chr16:16q23.1 |
likely benign|uncertain significance |
| NM_005548.3(KARS1):c.*26C>G |
single nucleotide variant |
not provided [RCV001567060] |
Chr16:75627869 [GRCh38]
Chr16:75661767 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.967C>T (p.Arg323Trp) |
single nucleotide variant |
not provided [RCV000489266] |
Chr16:75631804 [GRCh38]
Chr16:75665702 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.904C>T (p.Leu302Phe) |
single nucleotide variant |
not provided [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_005548.3(KARS1):c.157G>A (p.Ala53Thr) |
single nucleotide variant |
not provided [RCV004592965]|not specified [RCV000600033] |
Chr16:75641629 [GRCh38]
Chr16:75675527 [GRCh37]
Chr16:16q23.1 |
likely benign|uncertain significance |
| NM_005548.3(KARS1):c.170A>T (p.Asn57Ile) |
single nucleotide variant |
not provided [RCV002291679]|not specified [RCV000601549] |
Chr16:75641616 [GRCh38]
Chr16:75675514 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1472T>C (p.Met491Thr) |
single nucleotide variant |
not specified [RCV004025268] |
Chr16:75629494 [GRCh38]
Chr16:75663392 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1015G>A (p.Glu339Lys) |
single nucleotide variant |
not specified [RCV004025267] |
Chr16:75631756 [GRCh38]
Chr16:75665654 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1486T>C (p.Cys496Arg) |
single nucleotide variant |
not provided [RCV000732327] |
Chr16:75629480 [GRCh38]
Chr16:75663378 [GRCh37]
Chr16:16q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005548.3(KARS1):c.93G>T (p.Lys31Asn) |
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_005548.3(KARS1):c.717T>G (p.Phe239Leu) |
single nucleotide variant |
Hearing impairment [RCV001375254]|not provided [RCV000767138]|not specified [RCV000478894] |
Chr16:75635758 [GRCh38]
Chr16:75669656 [GRCh37]
Chr16:16q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease recessive intermediate B [RCV000625381]|Hearing impairment [RCV001375150]|KARS1-related disorder [RCV004541585]|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_005548.3(KARS1):c.222+3G>A |
single nucleotide variant |
not specified [RCV000507810] |
Chr16:75641561 [GRCh38]
Chr16:75675459 [GRCh37]
Chr16:16q23.1 |
pathogenic|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_005548.3(KARS1):c.421A>C (p.Lys141Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 89 [RCV003318463] |
Chr16:75636515 [GRCh38]
Chr16:75670413 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1184A>G (p.Asn395Ser) |
single nucleotide variant |
not provided [RCV002233897]|not specified [RCV000601714] |
Chr16:75631484 [GRCh38]
Chr16:75665382 [GRCh37]
Chr16:16q23.1 |
likely benign|uncertain significance |
| 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 |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] |
Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3 |
drug response |
| NM_005548.3(KARS1):c.1448C>G (p.Thr483Ser) |
single nucleotide variant |
not provided [RCV002529299]|not specified [RCV000615627] |
Chr16:75629518 [GRCh38]
Chr16:75663416 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.898C>T (p.Pro300Ser) |
single nucleotide variant |
not specified [RCV000613113] |
Chr16:75634190 [GRCh38]
Chr16:75668088 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.159T>A (p.Ala53=) |
single nucleotide variant |
not specified [RCV000610613] |
Chr16:75641627 [GRCh38]
Chr16:75675525 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1677G>A (p.Thr559=) |
single nucleotide variant |
not specified [RCV000613574] |
Chr16:75628587 [GRCh38]
Chr16:75662485 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.759T>C (p.Tyr253=) |
single nucleotide variant |
not provided [RCV001537229]|not specified [RCV000613739] |
Chr16:75635716 [GRCh38]
Chr16:75669614 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_005548.3(KARS1):c.426C>T (p.Leu142=) |
single nucleotide variant |
KARS1-related disorder [RCV004544771]|not provided [RCV000879410] |
Chr16:75636510 [GRCh38]
Chr16:75670408 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_005548.3(KARS1):c.223-7_223-6del |
deletion |
Charcot-Marie-Tooth disease recessive intermediate B [RCV000625093]|not specified [RCV001701409] |
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_005548.3(KARS1):c.989C>T (p.Thr330Met) |
single nucleotide variant |
not provided [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 |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] |
Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3 |
drug response |
| NM_005548.3(KARS1):c.690A>T (p.Arg230Ser) |
single nucleotide variant |
Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV003322806]|not provided [RCV000660587]|not specified [RCV004026058] |
Chr16:75635785 [GRCh38]
Chr16:75669683 [GRCh37]
Chr16:16q23.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005548.3(KARS1):c.787T>G (p.Phe263Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 89 [RCV001374667]|Deafness, congenital, and adult-onset progressive leukoencephalopathy [RCV001293664]|Optic neuropathy [RCV000681463]|not provided [RCV001200599] |
Chr16:75635688 [GRCh38]
Chr16:75669586 [GRCh37]
Chr16:16q23.1 |
pathogenic|uncertain significance |
| NM_005548.3(KARS1):c.1354del (p.Leu452fs) |
deletion |
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS [RCV001293663]|Sensorineural hearing loss disorder [RCV000678489] |
Chr16:75630493 [GRCh38]
Chr16:75664391 [GRCh37]
Chr16:16q23.1 |
pathogenic|likely 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 |
| NM_005548.3(KARS1):c.223-23dup |
duplication |
not provided [RCV001572682]|not specified [RCV001701198] |
Chr16:75640354..75640355 [GRCh38]
Chr16:75674252..75674253 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_005548.3(KARS1):c.222+86del |
deletion |
not provided [RCV001571237] |
Chr16:75641478 [GRCh38]
Chr16:75675376 [GRCh37]
Chr16:16q23.1 |
likely benign |
| 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_005548.3(KARS1):c.1338+169G>A |
single nucleotide variant |
not provided [RCV001611410] |
Chr16:75630999 [GRCh38]
Chr16:75664897 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.1339-272C>T |
single nucleotide variant |
not provided [RCV001709318] |
Chr16:75630780 [GRCh38]
Chr16:75664678 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.1079-14G>A |
single nucleotide variant |
not provided [RCV001585487] |
Chr16:75631603 [GRCh38]
Chr16:75665501 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_005548.3(KARS1):c.1629C>A (p.Pro543=) |
single nucleotide variant |
not provided [RCV003312350] |
Chr16:75628635 [GRCh38]
Chr16:75662533 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.307A>G (p.Ile103Val) |
single nucleotide variant |
not provided [RCV003312351]|not specified [RCV004333258] |
Chr16:75640265 [GRCh38]
Chr16:75674163 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1552-263C>G |
single nucleotide variant |
not provided [RCV001551285] |
Chr16:75628975 [GRCh38]
Chr16:75662873 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1552-257C>T |
single nucleotide variant |
not provided [RCV001581522] |
Chr16:75628969 [GRCh38]
Chr16:75662867 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1552-220del |
deletion |
not provided [RCV001547071] |
Chr16:75628932 [GRCh38]
Chr16:75662830 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1161C>T (p.Phe387=) |
single nucleotide variant |
KARS1-related disorder [RCV004533553]|not provided [RCV000922743] |
Chr16:75631507 [GRCh38]
Chr16:75665405 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_005548.3(KARS1):c.1256C>T (p.Thr419Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease recessive intermediate B [RCV002221587]|not provided [RCV002235473]|not specified [RCV000825349] |
Chr16:75631250 [GRCh38]
Chr16:75665148 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.2(KARS1):c.581dup (p.Gly194_Glu195insTer) |
duplication |
Charcot-Marie-Tooth, Intermediate [RCV000778480] |
Chr16:75635999..75636000 [GRCh38]
Chr16:75669897..75669898 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1253-77del |
deletion |
not provided [RCV000842038]|not specified [RCV004594213] |
Chr16:75631330 [GRCh38]
Chr16:75665228 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.223-8_223-6del |
deletion |
Charcot-Marie-Tooth disease recessive intermediate B [RCV002489340]|not provided [RCV000959292] |
Chr16:75640355..75640357 [GRCh38]
Chr16:75674253..75674255 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_005548.3(KARS1):c.915+8G>A |
single nucleotide variant |
not provided [RCV000966400] |
Chr16:75634165 [GRCh38]
Chr16:75668063 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.62+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_005548.3(KARS1):c.1704T>C (p.Leu568=) |
single nucleotide variant |
not provided [RCV000841417] |
Chr16:75627985 [GRCh38]
Chr16:75661883 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1275T>C (p.Asp425=) |
single nucleotide variant |
not specified [RCV000825174] |
Chr16:75631231 [GRCh38]
Chr16:75665129 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1232C>T (p.Thr411Met) |
single nucleotide variant |
not provided [RCV002235475]|not specified [RCV000825942] |
Chr16:75631436 [GRCh38]
Chr16:75665334 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1380A>C (p.Thr460=) |
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_005548.3(KARS1):c.330A>G (p.Gln110=) |
single nucleotide variant |
KARS1-related disorder [RCV004540126]|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_005548.3(KARS1):c.916-85A>G |
single nucleotide variant |
not provided [RCV000838661] |
Chr16:75631940 [GRCh38]
Chr16:75665838 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.388+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_005548.3(KARS1):c.822C>G (p.Ile274Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789994]|not provided [RCV001514740] |
Chr16:75634266 [GRCh38]
Chr16:75668164 [GRCh37]
Chr16:16q23.1 |
benign|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_005548.3(KARS1):c.440_441dup (p.Arg148fs) |
duplication |
Charcot-Marie-Tooth disease [RCV000789690] |
Chr16:75636494..75636495 [GRCh38]
Chr16:75670392..75670393 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.411T>C (p.Ala137=) |
single nucleotide variant |
not provided [RCV000940400] |
Chr16:75636525 [GRCh38]
Chr16:75670423 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.63-2670G>T |
single nucleotide variant |
not provided [RCV000942503] |
Chr16:75644393 [GRCh38]
Chr16:75678291 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1552-6T>G |
single nucleotide variant |
KARS1-related disorder [RCV004543440]|not provided [RCV000916645] |
Chr16:75628718 [GRCh38]
Chr16:75662616 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1724C>G (p.Pro575Arg) |
single nucleotide variant |
not provided [RCV000992214] |
Chr16:75627965 [GRCh38]
Chr16:75661863 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1430G>A (p.Arg477His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 89 [RCV000986182]|Deafness, congenital, and adult-onset progressive leukoencephalopathy [RCV001293658]|LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS [RCV001293659] |
Chr16:75629536 [GRCh38]
Chr16:75663434 [GRCh37]
Chr16:16q23.1 |
pathogenic|likely pathogenic |
| NM_005548.3(KARS1):c.1732AAG[1] (p.Lys579del) |
microsatellite |
not specified [RCV001195495] |
Chr16:75627952..75627954 [GRCh38]
Chr16:75661850..75661852 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1450G>A (p.Glu484Lys) |
single nucleotide variant |
not provided [RCV000996344] |
Chr16:75629516 [GRCh38]
Chr16:75663414 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NC_000016.9:g.(?_75674062)_(75674267_?)del |
deletion |
not provided [RCV003105475] |
Chr16:75674062..75674267 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| NM_005548.3(KARS1):c.1425-31T>C |
single nucleotide variant |
not provided [RCV001582040] |
Chr16:75629572 [GRCh38]
Chr16:75663470 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.223-251T>C |
single nucleotide variant |
not provided [RCV001568630] |
Chr16:75640600 [GRCh38]
Chr16:75674498 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1696-21G>A |
single nucleotide variant |
not provided [RCV001574199] |
Chr16:75628014 [GRCh38]
Chr16:75661912 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1634C>G (p.Ala545Gly) |
single nucleotide variant |
not provided [RCV003318079] |
Chr16:75628630 [GRCh38]
Chr16:75662528 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1339-143TAA[7] |
microsatellite |
not provided [RCV001653188] |
Chr16:75630628..75630630 [GRCh38]
Chr16:75664526..75664528 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.1551+207C>T |
single nucleotide variant |
not provided [RCV001666377] |
Chr16:75629208 [GRCh38]
Chr16:75663106 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.1551+211T>C |
single nucleotide variant |
not provided [RCV001556570] |
Chr16:75629204 [GRCh38]
Chr16:75663102 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1695+247G>A |
single nucleotide variant |
not provided [RCV001717731] |
Chr16:75628322 [GRCh38]
Chr16:75662220 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.62+269G>C |
single nucleotide variant |
not provided [RCV001592179] |
Chr16:75647309 [GRCh38]
Chr16:75681207 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.915+56C>G |
single nucleotide variant |
not provided [RCV001717897] |
Chr16:75634117 [GRCh38]
Chr16:75668015 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.1338+47T>C |
single nucleotide variant |
not provided [RCV001717726]|not specified [RCV004594565] |
Chr16:75631121 [GRCh38]
Chr16:75665019 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.1552-315A>C |
single nucleotide variant |
not provided [RCV001651791] |
Chr16:75629027 [GRCh38]
Chr16:75662925 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.795+312C>T |
single nucleotide variant |
not provided [RCV001680268] |
Chr16:75635368 [GRCh38]
Chr16:75669266 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.916-189G>A |
single nucleotide variant |
not provided [RCV001714822] |
Chr16:75632044 [GRCh38]
Chr16:75665942 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.1424+253C>G |
single nucleotide variant |
not provided [RCV001616162] |
Chr16:75630170 [GRCh38]
Chr16:75664068 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.1695+187del |
deletion |
not provided [RCV001540608] |
Chr16:75628382 [GRCh38]
Chr16:75662280 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.1707G>C (p.Leu569=) |
single nucleotide variant |
not provided [RCV000930460] |
Chr16:75627982 [GRCh38]
Chr16:75661880 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.771C>T (p.Phe257=) |
single nucleotide variant |
not provided [RCV000932019] |
Chr16:75635704 [GRCh38]
Chr16:75669602 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.223-7_223-6dup |
duplication |
not provided [RCV000892991] |
Chr16:75640354..75640355 [GRCh38]
Chr16:75674252..75674253 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_005548.3(KARS1):c.1368C>T (p.Cys456=) |
single nucleotide variant |
not provided [RCV000910959] |
Chr16:75630479 [GRCh38]
Chr16:75664377 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1662C>T (p.Val554=) |
single nucleotide variant |
not provided [RCV000911559] |
Chr16:75628602 [GRCh38]
Chr16:75662500 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1476G>A (p.Lys492=) |
single nucleotide variant |
not provided [RCV000911454] |
Chr16:75629490 [GRCh38]
Chr16:75663388 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.63-2653C>T |
single nucleotide variant |
not provided [RCV000912056] |
Chr16:75644376 [GRCh38]
Chr16:75678274 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_005548.3(KARS1):c.222+166G>A |
single nucleotide variant |
not provided [RCV001569839] |
Chr16:75641398 [GRCh38]
Chr16:75675296 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1424+246T>C |
single nucleotide variant |
not provided [RCV001558025] |
Chr16:75630177 [GRCh38]
Chr16:75664075 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.222+71G>A |
single nucleotide variant |
not provided [RCV001558203] |
Chr16:75641493 [GRCh38]
Chr16:75675391 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.63-20C>T |
single nucleotide variant |
not provided [RCV001558232] |
Chr16:75641743 [GRCh38]
Chr16:75675641 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.388+130A>T |
single nucleotide variant |
not provided [RCV001558248] |
Chr16:75640054 [GRCh38]
Chr16:75673952 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.388+58A>T |
single nucleotide variant |
not provided [RCV001558250] |
Chr16:75640126 [GRCh38]
Chr16:75674024 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.915+117G>A |
single nucleotide variant |
not provided [RCV001717724] |
Chr16:75634056 [GRCh38]
Chr16:75667954 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.63-19G>A |
single nucleotide variant |
not provided [RCV001553285] |
Chr16:75641742 [GRCh38]
Chr16:75675640 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_005548.3(KARS1):c.1657C>T (p.Arg553Ter) |
single nucleotide variant |
not provided [RCV003231059] |
Chr16:75628607 [GRCh38]
Chr16:75662505 [GRCh37]
Chr16:16q23.1 |
likely pathogenic |
| NM_005548.3(KARS1):c.388+44A>C |
single nucleotide variant |
not provided [RCV001576602] |
Chr16:75640140 [GRCh38]
Chr16:75674038 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.796-282C>A |
single nucleotide variant |
not provided [RCV001550491] |
Chr16:75634574 [GRCh38]
Chr16:75668472 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.916-147G>A |
single nucleotide variant |
not provided [RCV001556191] |
Chr16:75632002 [GRCh38]
Chr16:75665900 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.973G>A (p.Glu325Lys) |
single nucleotide variant |
not provided [RCV002469810] |
Chr16:75631798 [GRCh38]
Chr16:75665696 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1552-273G>A |
single nucleotide variant |
not provided [RCV001659240] |
Chr16:75628985 [GRCh38]
Chr16:75662883 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.483-132G>T |
single nucleotide variant |
not provided [RCV001621633] |
Chr16:75636230 [GRCh38]
Chr16:75670128 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.389-95dup |
duplication |
not provided [RCV001619168] |
Chr16:75636631..75636632 [GRCh38]
Chr16:75670529..75670530 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.795+281_795+284del |
deletion |
not provided [RCV001717907] |
Chr16:75635396..75635399 [GRCh38]
Chr16:75669294..75669297 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.62+208G>A |
single nucleotide variant |
not provided [RCV001621644] |
Chr16:75647370 [GRCh38]
Chr16:75681268 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.223-229G>A |
single nucleotide variant |
not provided [RCV001598815] |
Chr16:75640578 [GRCh38]
Chr16:75674476 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.1551+123dup |
duplication |
not provided [RCV001674775] |
Chr16:75629290..75629291 [GRCh38]
Chr16:75663188..75663189 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.388+129C>T |
single nucleotide variant |
not provided [RCV001618854] |
Chr16:75640055 [GRCh38]
Chr16:75673953 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.796-135C>T |
single nucleotide variant |
not provided [RCV001684415] |
Chr16:75634427 [GRCh38]
Chr16:75668325 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.389-85del |
deletion |
not provided [RCV001647729]|not specified [RCV004598064] |
Chr16:75636632 [GRCh38]
Chr16:75670530 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.483-29T>C |
single nucleotide variant |
not provided [RCV001538651] |
Chr16:75636127 [GRCh38]
Chr16:75670025 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.63-258G>A |
single nucleotide variant |
not provided [RCV001545466] |
Chr16:75641981 [GRCh38]
Chr16:75675879 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.222+231C>T |
single nucleotide variant |
not provided [RCV001566922] |
Chr16:75641333 [GRCh38]
Chr16:75675231 [GRCh37]
Chr16:16q23.1 |
likely benign |
| GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 |
copy number gain |
not provided [RCV001249359] |
Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3 |
not provided |
| NM_005548.3(KARS1):c.1335C>G (p.Asp445Glu) |
single nucleotide variant |
not provided [RCV002280414]|not specified [RCV004047546] |
Chr16:75631171 [GRCh38]
Chr16:75665069 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1676C>T (p.Thr559Met) |
single nucleotide variant |
Inborn genetic diseases [RCV001266817]|Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV002463798]|not provided [RCV001760311] |
Chr16:75628588 [GRCh38]
Chr16:75662486 [GRCh37]
Chr16:16q23.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_005548.3(KARS1):c.1424+34C>T |
single nucleotide variant |
not provided [RCV001565045] |
Chr16:75630389 [GRCh38]
Chr16:75664287 [GRCh37]
Chr16:16q23.1 |
likely benign |
| GRCh37/hg19 16q23.1(chr16:75554118-75823234)x3 |
copy number gain |
not provided [RCV001259870] |
Chr16:75554118..75823234 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| GRCh37/hg19 16q23.1(chr16:75281963-75665698)x3 |
copy number gain |
not provided [RCV001259871] |
Chr16:75281963..75665698 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.979A>G (p.Ile327Val) |
single nucleotide variant |
not provided [RCV001812355]|not specified [RCV004035530] |
Chr16:75631792 [GRCh38]
Chr16:75665690 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1513C>T (p.Pro505Ser) |
single nucleotide variant |
Deafness, congenital, and adult-onset progressive leukoencephalopathy [RCV001293660] |
Chr16:75629453 [GRCh38]
Chr16:75663351 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| NM_005548.3(KARS1):c.1702C>T (p.Leu568Phe) |
single nucleotide variant |
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS [RCV001293665] |
Chr16:75627987 [GRCh38]
Chr16:75661885 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| NM_005548.3(KARS1):c.1663G>A (p.Ala555Thr) |
single nucleotide variant |
not provided [RCV001787432]|not specified [RCV004040835] |
Chr16:75628601 [GRCh38]
Chr16:75662499 [GRCh37]
Chr16:16q23.1 |
likely benign|uncertain significance |
| NM_005548.3(KARS1):c.1312C>T (p.Arg438Trp) |
single nucleotide variant |
KARS1-related disorder [RCV004531073]|Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV001293656] |
Chr16:75631194 [GRCh38]
Chr16:75665092 [GRCh37]
Chr16:16q23.1 |
pathogenic|likely pathogenic |
| NM_005548.3(KARS1):c.1742A>C (p.Asn581Thr) |
single nucleotide variant |
not specified [RCV001449842] |
Chr16:75627947 [GRCh38]
Chr16:75661845 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.299A>C (p.His100Pro) |
single nucleotide variant |
not provided [RCV001507344] |
Chr16:75640273 [GRCh38]
Chr16:75674171 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.795+1G>A |
single nucleotide variant |
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS [RCV001293666] |
Chr16:75635679 [GRCh38]
Chr16:75669577 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| NM_005548.3(KARS1):c.750C>G (p.Ile250Met) |
single nucleotide variant |
not provided [RCV001507343] |
Chr16:75635725 [GRCh38]
Chr16:75669623 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.916-110C>T |
single nucleotide variant |
not provided [RCV001538317] |
Chr16:75631965 [GRCh38]
Chr16:75665863 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.915+280G>A |
single nucleotide variant |
not provided [RCV001536523] |
Chr16:75633893 [GRCh38]
Chr16:75667791 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.1338+61C>T |
single nucleotide variant |
not provided [RCV001540315] |
Chr16:75631107 [GRCh38]
Chr16:75665005 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.434A>G (p.Tyr145Cys) |
single nucleotide variant |
not provided [RCV001588670] |
Chr16:75636502 [GRCh38]
Chr16:75670400 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.916-180C>G |
single nucleotide variant |
not provided [RCV001618928] |
Chr16:75632035 [GRCh38]
Chr16:75665933 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_018975.4(TERF2IP):c.-25C>A |
single nucleotide variant |
not provided [RCV001649983]|not specified [RCV002268547] |
Chr16:75647858 [GRCh38]
Chr16:75681756 [GRCh37]
Chr16:16q23.1 |
benign |
| NM_005548.3(KARS1):c.1551+302G>T |
single nucleotide variant |
not provided [RCV001545700] |
Chr16:75629113 [GRCh38]
Chr16:75663011 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1424+49G>A |
single nucleotide variant |
not provided [RCV001592228] |
Chr16:75630374 [GRCh38]
Chr16:75664272 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1252+9A>C |
single nucleotide variant |
not provided [RCV001592288] |
Chr16:75631407 [GRCh38]
Chr16:75665305 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1262A>G (p.Lys421Arg) |
single nucleotide variant |
not provided [RCV001508415] |
Chr16:75631244 [GRCh38]
Chr16:75665142 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1175G>A (p.Arg392Gln) |
single nucleotide variant |
not provided [RCV001755633]|not specified [RCV004040739] |
Chr16:75631493 [GRCh38]
Chr16:75665391 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.779A>C (p.Glu260Ala) |
single nucleotide variant |
not provided [RCV002237051] |
Chr16:75635696 [GRCh38]
Chr16:75669594 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.515T>A (p.Ile172Asn) |
single nucleotide variant |
not provided [RCV002237057]|not specified [RCV004631982] |
Chr16:75636066 [GRCh38]
Chr16:75669964 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.450G>A (p.Glu150=) |
single nucleotide variant |
KARS1-related disorder [RCV004533990]|not provided [RCV002237058] |
Chr16:75636486 [GRCh38]
Chr16:75670384 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.223-6T>A |
single nucleotide variant |
KARS1-related disorder [RCV004533991]|not provided [RCV002237063] |
Chr16:75640355 [GRCh38]
Chr16:75674253 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_005548.3(KARS1):c.795+3A>C |
single nucleotide variant |
not provided [RCV003109021] |
Chr16:75635677 [GRCh38]
Chr16:75669575 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NC_000016.9:g.(?_75428968)_(75690509_?)del |
deletion |
not provided [RCV002239772] |
Chr16:75428968..75690509 [GRCh37]
Chr16:16q23.1 |
pathogenic|uncertain significance |
| NC_000016.9:g.(?_75661793)_(75690509_?)dup |
duplication |
not provided [RCV002239773] |
Chr16:75661793..75690509 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1688A>T (p.Asn563Ile) |
single nucleotide variant |
not provided [RCV002239866] |
Chr16:75628576 [GRCh38]
Chr16:75662474 [GRCh37]
Chr16:16q23.1 |
pathogenic|uncertain significance |
| NM_005548.3(KARS1):c.1660G>T (p.Val554Phe) |
single nucleotide variant |
not provided [RCV002239867] |
Chr16:75628604 [GRCh38]
Chr16:75662502 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1660G>A (p.Val554Ile) |
single nucleotide variant |
not provided [RCV002239868] |
Chr16:75628604 [GRCh38]
Chr16:75662502 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1570G>C (p.Asp524His) |
single nucleotide variant |
not provided [RCV002239869] |
Chr16:75628694 [GRCh38]
Chr16:75662592 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1201G>C (p.Glu401Gln) |
single nucleotide variant |
not provided [RCV002239870] |
Chr16:75631467 [GRCh38]
Chr16:75665365 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1149C>T (p.Tyr383=) |
single nucleotide variant |
not provided [RCV002239871] |
Chr16:75631519 [GRCh38]
Chr16:75665417 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1127A>G (p.Asp376Gly) |
single nucleotide variant |
not provided [RCV002239872] |
Chr16:75631541 [GRCh38]
Chr16:75665439 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.63-2576T>C |
single nucleotide variant |
not provided [RCV002239881] |
Chr16:75644299 [GRCh38]
Chr16:75678197 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.872A>G (p.Asp291Gly) |
single nucleotide variant |
not provided [RCV001755407] |
Chr16:75634216 [GRCh38]
Chr16:75668114 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1464G>A (p.Leu488=) |
single nucleotide variant |
not provided [RCV002237035] |
Chr16:75629502 [GRCh38]
Chr16:75663400 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.739C>T (p.Arg247Cys) |
single nucleotide variant |
not provided [RCV002237054] |
Chr16:75635736 [GRCh38]
Chr16:75669634 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1753A>G (p.Thr585Ala) |
single nucleotide variant |
not provided [RCV002237033] |
Chr16:75627936 [GRCh38]
Chr16:75661834 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.786A>C (p.Gly262=) |
single nucleotide variant |
not provided [RCV002237050] |
Chr16:75635689 [GRCh38]
Chr16:75669587 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.321C>T (p.Asp107=) |
single nucleotide variant |
not provided [RCV002237061] |
Chr16:75640251 [GRCh38]
Chr16:75674149 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.699C>G (p.Asp233Glu) |
single nucleotide variant |
not provided [RCV003126981] |
Chr16:75635776 [GRCh38]
Chr16:75669674 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.916-13G>C |
single nucleotide variant |
not provided [RCV002239873] |
Chr16:75631868 [GRCh38]
Chr16:75665766 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.908A>G (p.Tyr303Cys) |
single nucleotide variant |
not provided [RCV002239874] |
Chr16:75634180 [GRCh38]
Chr16:75668078 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.814A>T (p.Asn272Tyr) |
single nucleotide variant |
not provided [RCV002239875] |
Chr16:75634274 [GRCh38]
Chr16:75668172 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.429C>T (p.Ile143=) |
single nucleotide variant |
not provided [RCV002239876] |
Chr16:75636507 [GRCh38]
Chr16:75670405 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.385G>A (p.Ala129Thr) |
single nucleotide variant |
not provided [RCV002239877] |
Chr16:75640187 [GRCh38]
Chr16:75674085 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.382G>A (p.Val128Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease recessive intermediate B [RCV003147741]|not provided [RCV002239878] |
Chr16:75640190 [GRCh38]
Chr16:75674088 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.374C>T (p.Thr125Ile) |
single nucleotide variant |
not provided [RCV002239879] |
Chr16:75640198 [GRCh38]
Chr16:75674096 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.63-2545C>T |
single nucleotide variant |
not provided [RCV002239880] |
Chr16:75644268 [GRCh38]
Chr16:75678166 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.388+19A>T |
single nucleotide variant |
not provided [RCV001757771] |
Chr16:75640165 [GRCh38]
Chr16:75674063 [GRCh37]
Chr16:16q23.1 |
benign|likely benign |
| NM_005548.3(KARS1):c.415G>T (p.Gly139Trp) |
single nucleotide variant |
not provided [RCV001757281] |
Chr16:75636521 [GRCh38]
Chr16:75670419 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.63-2684A>T |
single nucleotide variant |
not provided [RCV001776922]|not specified [RCV004040782] |
Chr16:75644407 [GRCh38]
Chr16:75678305 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.232A>G (p.Lys78Glu) |
single nucleotide variant |
not provided [RCV001812576] |
Chr16:75640340 [GRCh38]
Chr16:75674238 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1078+7C>T |
single nucleotide variant |
not provided [RCV001811923] |
Chr16:75631686 [GRCh38]
Chr16:75665584 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NC_000016.9:g.(?_75573892)_(75690509_?)del |
deletion |
Joubert syndrome 20 [RCV002044963] |
Chr16:75573892..75690509 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| NM_005548.3(KARS1):c.874A>G (p.Met292Val) |
single nucleotide variant |
not provided [RCV001837161] |
Chr16:75634214 [GRCh38]
Chr16:75668112 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NC_000016.9:g.(?_75327850)_(75664426_?)dup |
duplication |
Joubert syndrome 20 [RCV001875411] |
Chr16:75327850..75664426 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1424+6A>T |
single nucleotide variant |
not provided [RCV002237036] |
Chr16:75630417 [GRCh38]
Chr16:75664315 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1313G>A (p.Arg438Gln) |
single nucleotide variant |
not provided [RCV002237038] |
Chr16:75631193 [GRCh38]
Chr16:75665091 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1013G>C (p.Cys338Ser) |
single nucleotide variant |
not provided [RCV002237045] |
Chr16:75631758 [GRCh38]
Chr16:75665656 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.951A>C (p.Glu317Asp) |
single nucleotide variant |
not provided [RCV002237046] |
Chr16:75631820 [GRCh38]
Chr16:75665718 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.916-11GTT[2] |
microsatellite |
not provided [RCV002237048] |
Chr16:75631858..75631860 [GRCh38]
Chr16:75665756..75665758 [GRCh37]
Chr16:16q23.1 |
likely benign|uncertain significance |
| NM_005548.3(KARS1):c.588G>A (p.Leu196=) |
single nucleotide variant |
not provided [RCV002237055] |
Chr16:75635993 [GRCh38]
Chr16:75669891 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.363G>A (p.Leu121=) |
single nucleotide variant |
not provided [RCV002237059] |
Chr16:75640209 [GRCh38]
Chr16:75674107 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.63-2657A>T |
single nucleotide variant |
not provided [RCV002237072]|not specified [RCV004045115] |
Chr16:75644380 [GRCh38]
Chr16:75678278 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.63-2661C>G |
single nucleotide variant |
not provided [RCV002237073] |
Chr16:75644384 [GRCh38]
Chr16:75678282 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1270G>C (p.Asp424His) |
single nucleotide variant |
not provided [RCV002237039] |
Chr16:75631236 [GRCh38]
Chr16:75665134 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1078+12TC[5] |
microsatellite |
not provided [RCV002237043] |
Chr16:75631673..75631674 [GRCh38]
Chr16:75665571..75665572 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.940C>T (p.Arg314Trp) |
single nucleotide variant |
not provided [RCV002237047] |
Chr16:75631831 [GRCh38]
Chr16:75665729 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.773_774insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGGGAGAGGGAGACCGAGAGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGAGAGGCAGGGGCAGGGGCAGGGGCAGGGCACATATATAAGAAGTTTCTT (p.Leu258delinsPhePhePhePhePhePhePheXaaXaaXaaXaaGlyArgGlyArgProArgGlyArgGlyGluArgGlyGluGlyArgGlyGluArgGlyGluGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgAlaHisIleTer) |
insertion |
not provided [RCV002237052] |
Chr16:75635701..75635702 [GRCh38]
Chr16:75669599..75669600 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| NM_005548.3(KARS1):c.343C>T (p.Leu115=) |
single nucleotide variant |
not provided [RCV002237060] |
Chr16:75640229 [GRCh38]
Chr16:75674127 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.181G>A (p.Asp61Asn) |
single nucleotide variant |
not provided [RCV002237065] |
Chr16:75641605 [GRCh38]
Chr16:75675503 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.85G>C (p.Ala29Pro) |
single nucleotide variant |
KARS1-related disorder [RCV004529106]|Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV003223432]|not provided [RCV002237067] |
Chr16:75641701 [GRCh38]
Chr16:75675599 [GRCh37]
Chr16:16q23.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_005548.3(KARS1):c.186T>C (p.Asn62=) |
single nucleotide variant |
not provided [RCV002237064] |
Chr16:75641600 [GRCh38]
Chr16:75675498 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.76C>T (p.Arg26Cys) |
single nucleotide variant |
not provided [RCV002237068]|not specified [RCV004045113] |
Chr16:75641710 [GRCh38]
Chr16:75675608 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.63-12T>C |
single nucleotide variant |
not provided [RCV002237069] |
Chr16:75641735 [GRCh38]
Chr16:75675633 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1356G>A (p.Leu452=) |
single nucleotide variant |
not provided [RCV002237037] |
Chr16:75630491 [GRCh38]
Chr16:75664389 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1207G>A (p.Ala403Thr) |
single nucleotide variant |
not provided [RCV002237040] |
Chr16:75631461 [GRCh38]
Chr16:75665359 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1078+20A>C |
single nucleotide variant |
not provided [RCV002237044] |
Chr16:75631673 [GRCh38]
Chr16:75665571 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1696-2A>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 89 [RCV002204554] |
Chr16:75627995 [GRCh38]
Chr16:75661893 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 |
copy number gain |
not provided [RCV002221458] |
Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3 |
pathogenic |
| NM_005548.3(KARS1):c.1520G>A (p.Arg507Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease recessive intermediate B [RCV002221641]|not provided [RCV002243452]|not specified [RCV004040017] |
Chr16:75629446 [GRCh38]
Chr16:75663344 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.250A>G (p.Ile84Val) |
single nucleotide variant |
not provided [RCV003118049]|not specified [RCV004244604] |
Chr16:75640322 [GRCh38]
Chr16:75674220 [GRCh37]
Chr16:16q23.1 |
likely benign|uncertain significance |
| NM_005548.3(KARS1):c.1425-5C>T |
single nucleotide variant |
not provided [RCV003120226] |
Chr16:75629546 [GRCh38]
Chr16:75663444 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NC_000016.9:g.(?_75589682)_(75690509_?)dup |
duplication |
Joubert syndrome 20 [RCV003122449] |
Chr16:75589682..75690509 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1525C>T (p.Arg509Trp) |
single nucleotide variant |
not provided [RCV002237034] |
Chr16:75629441 [GRCh38]
Chr16:75663339 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1097C>T (p.Thr366Ile) |
single nucleotide variant |
not provided [RCV002237042] |
Chr16:75631571 [GRCh38]
Chr16:75665469 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.743C>G (p.Ser248Cys) |
single nucleotide variant |
not provided [RCV002237053] |
Chr16:75635732 [GRCh38]
Chr16:75669630 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.563C>T (p.Pro188Leu) |
single nucleotide variant |
not provided [RCV002237056] |
Chr16:75636018 [GRCh38]
Chr16:75669916 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.63-2623G>A |
single nucleotide variant |
not provided [RCV002237071]|not specified [RCV004045114] |
Chr16:75644346 [GRCh38]
Chr16:75678244 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1181T>A (p.Ile394Asn) |
single nucleotide variant |
Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV002226922] |
Chr16:75631487 [GRCh38]
Chr16:75665385 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.256C>T (p.Gln86Ter) |
single nucleotide variant |
Global developmental delay [RCV002226985] |
Chr16:75640316 [GRCh38]
Chr16:75674214 [GRCh37]
Chr16:16q23.1 |
likely pathogenic |
| NM_005548.3(KARS1):c.1357G>C (p.Glu453Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 89 [RCV002251047] |
Chr16:75630490 [GRCh38]
Chr16:75664388 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1513C>G (p.Pro505Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 89 [RCV002251054] |
Chr16:75629453 [GRCh38]
Chr16:75663351 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1115C>T (p.Thr372Ile) |
single nucleotide variant |
not provided [RCV002237041] |
Chr16:75631553 [GRCh38]
Chr16:75665451 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.225A>G (p.Gln75=) |
single nucleotide variant |
not provided [RCV002237062] |
Chr16:75640347 [GRCh38]
Chr16:75674245 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.123A>G (p.Lys41=) |
single nucleotide variant |
not provided [RCV002237066] |
Chr16:75641663 [GRCh38]
Chr16:75675561 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.63-2583C>T |
single nucleotide variant |
not provided [RCV002237070] |
Chr16:75644306 [GRCh38]
Chr16:75678204 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.63-2662G>A |
single nucleotide variant |
not provided [RCV002237074] |
Chr16:75644385 [GRCh38]
Chr16:75678283 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1734G>C (p.Lys578Asn) |
single nucleotide variant |
not provided [RCV002273465] |
Chr16:75627955 [GRCh38]
Chr16:75661853 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.450G>C (p.Glu150Asp) |
single nucleotide variant |
not provided [RCV002267468]|not specified [RCV004047466] |
Chr16:75636486 [GRCh38]
Chr16:75670384 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1225C>G (p.Pro409Ala) |
single nucleotide variant |
not provided [RCV002292164] |
Chr16:75631443 [GRCh38]
Chr16:75665341 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 |
copy number gain |
Syndromic anorectal malformation [RCV002286607] |
Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3 |
likely pathogenic |
| NM_005548.3(KARS1):c.63-2739G>A |
single nucleotide variant |
not provided [RCV002285632] |
Chr16:75644462 [GRCh38]
Chr16:75678360 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1585A>G (p.Ile529Val) |
single nucleotide variant |
not provided [RCV002267342]|not specified [RCV004047459] |
Chr16:75628679 [GRCh38]
Chr16:75662577 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.299A>G (p.His100Arg) |
single nucleotide variant |
not specified [RCV004307892] |
Chr16:75640273 [GRCh38]
Chr16:75674171 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4 |
copy number gain |
not provided [RCV002475008] |
Chr16:73673334..76105189 [GRCh37]
Chr16:16q22.3-23.1 |
uncertain significance |
| GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1 |
copy number loss |
not provided [RCV002475774] |
Chr16:73673334..78137887 [GRCh37]
Chr16:16q22.3-23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1592A>G (p.Glu531Gly) |
single nucleotide variant |
not provided [RCV002462582] |
Chr16:75628672 [GRCh38]
Chr16:75662570 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.281C>T (p.Pro94Leu) |
single nucleotide variant |
not provided [RCV002991354] |
Chr16:75640291 [GRCh38]
Chr16:75674189 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1649G>A (p.Gly550Asp) |
single nucleotide variant |
not provided [RCV002686156] |
Chr16:75628615 [GRCh38]
Chr16:75662513 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1338+12C>T |
single nucleotide variant |
not provided [RCV002862684] |
Chr16:75631156 [GRCh38]
Chr16:75665054 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.986T>C (p.Leu329Ser) |
single nucleotide variant |
not provided [RCV003013564] |
Chr16:75631785 [GRCh38]
Chr16:75665683 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.90G>A (p.Glu30=) |
single nucleotide variant |
not provided [RCV002971685] |
Chr16:75641696 [GRCh38]
Chr16:75675594 [GRCh37]
Chr16:16q23.1 |
likely benign |
| GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1 |
copy number loss |
not provided [RCV002475848] |
Chr16:73858079..75855162 [GRCh37]
Chr16:16q22.3-23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1542A>G (p.Glu514=) |
single nucleotide variant |
not provided [RCV002755746] |
Chr16:75629424 [GRCh38]
Chr16:75663322 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.239G>C (p.Arg80Pro) |
single nucleotide variant |
not provided [RCV002842846] |
Chr16:75640333 [GRCh38]
Chr16:75674231 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1745_1746delinsAG (p.Val582Glu) |
indel |
not provided [RCV002618932] |
Chr16:75627943..75627944 [GRCh38]
Chr16:75661841..75661842 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1115C>G (p.Thr372Ser) |
single nucleotide variant |
not provided [RCV002755778] |
Chr16:75631553 [GRCh38]
Chr16:75665451 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.66G>A (p.Glu22=) |
single nucleotide variant |
not provided [RCV002681966] |
Chr16:75641720 [GRCh38]
Chr16:75675618 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1679A>G (p.Asp560Gly) |
single nucleotide variant |
not provided [RCV002842845] |
Chr16:75628585 [GRCh38]
Chr16:75662483 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1338+16C>G |
single nucleotide variant |
not provided [RCV003022063] |
Chr16:75631152 [GRCh38]
Chr16:75665050 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1726G>A (p.Glu576Lys) |
single nucleotide variant |
not provided [RCV002622855] |
Chr16:75627963 [GRCh38]
Chr16:75661861 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.439C>A (p.Leu147Ile) |
single nucleotide variant |
not provided [RCV003022064] |
Chr16:75636497 [GRCh38]
Chr16:75670395 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.346C>T (p.Gln116Ter) |
single nucleotide variant |
not provided [RCV003055524] |
Chr16:75640226 [GRCh38]
Chr16:75674124 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| NM_005548.3(KARS1):c.600G>C (p.Pro200=) |
single nucleotide variant |
not provided [RCV002620722] |
Chr16:75635981 [GRCh38]
Chr16:75669879 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.498A>G (p.Glu166=) |
single nucleotide variant |
KARS1-related disorder [RCV004545351]|not provided [RCV002590772] |
Chr16:75636083 [GRCh38]
Chr16:75669981 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1253-3C>T |
single nucleotide variant |
not provided [RCV002781377] |
Chr16:75631256 [GRCh38]
Chr16:75665154 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.916-5G>C |
single nucleotide variant |
not provided [RCV003036443] |
Chr16:75631860 [GRCh38]
Chr16:75665758 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1080G>C (p.Gly360=) |
single nucleotide variant |
not provided [RCV002569722] |
Chr16:75631588 [GRCh38]
Chr16:75665486 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1480G>C (p.Glu494Gln) |
single nucleotide variant |
not provided [RCV003054398] |
Chr16:75629486 [GRCh38]
Chr16:75663384 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.669+17T>C |
single nucleotide variant |
not provided [RCV003038307] |
Chr16:75635895 [GRCh38]
Chr16:75669793 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.63-2541C>A |
single nucleotide variant |
not provided [RCV002796751] |
Chr16:75644264 [GRCh38]
Chr16:75678162 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.669+10_669+23del |
deletion |
not provided [RCV002621564] |
Chr16:75635889..75635902 [GRCh38]
Chr16:75669787..75669800 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.483-17A>T |
single nucleotide variant |
not provided [RCV002760254] |
Chr16:75636115 [GRCh38]
Chr16:75670013 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.115A>G (p.Lys39Glu) |
single nucleotide variant |
not provided [RCV002666827] |
Chr16:75641671 [GRCh38]
Chr16:75675569 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1170C>A (p.Pro390=) |
single nucleotide variant |
not provided [RCV002626565] |
Chr16:75631498 [GRCh38]
Chr16:75665396 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1552-16C>G |
single nucleotide variant |
not provided [RCV002597235] |
Chr16:75628728 [GRCh38]
Chr16:75662626 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1252+4A>C |
single nucleotide variant |
not provided [RCV002663375] |
Chr16:75631412 [GRCh38]
Chr16:75665310 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.63-2700G>C |
single nucleotide variant |
not provided [RCV003006206] |
Chr16:75644423 [GRCh38]
Chr16:75678321 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1184A>T (p.Asn395Ile) |
single nucleotide variant |
not provided [RCV002917539] |
Chr16:75631484 [GRCh38]
Chr16:75665382 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1338+19C>G |
single nucleotide variant |
not provided [RCV002625676] |
Chr16:75631149 [GRCh38]
Chr16:75665047 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.384G>A (p.Val128=) |
single nucleotide variant |
not provided [RCV002623337] |
Chr16:75640188 [GRCh38]
Chr16:75674086 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.170A>C (p.Asn57Thr) |
single nucleotide variant |
not provided [RCV003042202] |
Chr16:75641616 [GRCh38]
Chr16:75675514 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1031A>G (p.Tyr344Cys) |
single nucleotide variant |
not provided [RCV002875969] |
Chr16:75631740 [GRCh38]
Chr16:75665638 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1382T>G (p.Phe461Cys) |
single nucleotide variant |
not provided [RCV003058508] |
Chr16:75630465 [GRCh38]
Chr16:75664363 [GRCh37]
Chr16:16q23.1 |
likely pathogenic|uncertain significance |
| NM_005548.3(KARS1):c.388+20A>G |
single nucleotide variant |
not provided [RCV002626705] |
Chr16:75640164 [GRCh38]
Chr16:75674062 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1404A>T (p.Ile468=) |
single nucleotide variant |
not provided [RCV002700933] |
Chr16:75630443 [GRCh38]
Chr16:75664341 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.692A>T (p.Tyr231Phe) |
single nucleotide variant |
not provided [RCV002801606] |
Chr16:75635783 [GRCh38]
Chr16:75669681 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1044C>G (p.His348Gln) |
single nucleotide variant |
not provided [RCV002631726] |
Chr16:75631727 [GRCh38]
Chr16:75665625 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.482+15C>T |
single nucleotide variant |
not provided [RCV003044441] |
Chr16:75636439 [GRCh38]
Chr16:75670337 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.572C>A (p.Thr191Asn) |
single nucleotide variant |
not provided [RCV002810995] |
Chr16:75636009 [GRCh38]
Chr16:75669907 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1609C>T (p.Leu537=) |
single nucleotide variant |
not provided [RCV002806245] |
Chr16:75628655 [GRCh38]
Chr16:75662553 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.463C>G (p.Gln155Glu) |
single nucleotide variant |
not provided [RCV002671762] |
Chr16:75636473 [GRCh38]
Chr16:75670371 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1339-6A>C |
single nucleotide variant |
not provided [RCV002630539] |
Chr16:75630514 [GRCh38]
Chr16:75664412 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.815A>C (p.Asn272Thr) |
single nucleotide variant |
not provided [RCV002937938] |
Chr16:75634273 [GRCh38]
Chr16:75668171 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.63-2643G>A |
single nucleotide variant |
not provided [RCV002670815] |
Chr16:75644366 [GRCh38]
Chr16:75678264 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.181G>C (p.Asp61His) |
single nucleotide variant |
not provided [RCV002577892] |
Chr16:75641605 [GRCh38]
Chr16:75675503 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.806C>A (p.Pro269His) |
single nucleotide variant |
not provided [RCV003029812] |
Chr16:75634282 [GRCh38]
Chr16:75668180 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.402C>G (p.Ala134=) |
single nucleotide variant |
not provided [RCV002810407] |
Chr16:75636534 [GRCh38]
Chr16:75670432 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.696G>C (p.Leu232Phe) |
single nucleotide variant |
not provided [RCV002810994] |
Chr16:75635779 [GRCh38]
Chr16:75669677 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1696-11A>G |
single nucleotide variant |
not provided [RCV002922128] |
Chr16:75628004 [GRCh38]
Chr16:75661902 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1551+14C>G |
single nucleotide variant |
not provided [RCV003028820] |
Chr16:75629401 [GRCh38]
Chr16:75663299 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1486T>G (p.Cys496Gly) |
single nucleotide variant |
not provided [RCV002671215] |
Chr16:75629480 [GRCh38]
Chr16:75663378 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1753A>T (p.Thr585Ser) |
single nucleotide variant |
not provided [RCV002832815] |
Chr16:75627936 [GRCh38]
Chr16:75661834 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1425-3T>C |
single nucleotide variant |
not provided [RCV002628012] |
Chr16:75629544 [GRCh38]
Chr16:75663442 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.241A>C (p.Ser81Arg) |
single nucleotide variant |
not provided [RCV002635066] |
Chr16:75640331 [GRCh38]
Chr16:75674229 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.770T>G (p.Phe257Cys) |
single nucleotide variant |
not provided [RCV002943251] |
Chr16:75635705 [GRCh38]
Chr16:75669603 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1339-17T>C |
single nucleotide variant |
not provided [RCV002604928] |
Chr16:75630525 [GRCh38]
Chr16:75664423 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.916-5G>A |
single nucleotide variant |
not provided [RCV002606151] |
Chr16:75631860 [GRCh38]
Chr16:75665758 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.162T>C (p.Ala54=) |
single nucleotide variant |
not provided [RCV002582284] |
Chr16:75641624 [GRCh38]
Chr16:75675522 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.766A>G (p.Ser256Gly) |
single nucleotide variant |
not provided [RCV002583423] |
Chr16:75635709 [GRCh38]
Chr16:75669607 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1573G>C (p.Glu525Gln) |
single nucleotide variant |
not provided [RCV002609404] |
Chr16:75628691 [GRCh38]
Chr16:75662589 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.69G>A (p.Leu23=) |
single nucleotide variant |
not provided [RCV002605817] |
Chr16:75641717 [GRCh38]
Chr16:75675615 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1752C>G (p.Thr584=) |
single nucleotide variant |
KARS1-related disorder [RCV004534134]|not provided [RCV002589622] |
Chr16:75627937 [GRCh38]
Chr16:75661835 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.482+7C>T |
single nucleotide variant |
not provided [RCV002583766] |
Chr16:75636447 [GRCh38]
Chr16:75670345 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.331A>C (p.Lys111Gln) |
single nucleotide variant |
not provided [RCV002587260] |
Chr16:75640241 [GRCh38]
Chr16:75674139 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1080G>T (p.Gly360=) |
single nucleotide variant |
not provided [RCV002634498] |
Chr16:75631588 [GRCh38]
Chr16:75665486 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1716C>T (p.Ala572=) |
single nucleotide variant |
not provided [RCV002582623] |
Chr16:75627973 [GRCh38]
Chr16:75661871 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.496GAA[2] (p.Glu168del) |
microsatellite |
not provided [RCV002943875]|not specified [RCV004068118] |
Chr16:75636077..75636079 [GRCh38]
Chr16:75669975..75669977 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1304C>G (p.Pro435Arg) |
single nucleotide variant |
not provided [RCV002658013] |
Chr16:75631202 [GRCh38]
Chr16:75665100 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.369C>T (p.Asp123=) |
single nucleotide variant |
not provided [RCV002725506] |
Chr16:75640203 [GRCh38]
Chr16:75674101 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1425-10C>T |
single nucleotide variant |
not provided [RCV003070306] |
Chr16:75629551 [GRCh38]
Chr16:75663449 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.63-2704T>C |
single nucleotide variant |
not provided [RCV003149539] |
Chr16:75644427 [GRCh38]
Chr16:75678325 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1514C>G (p.Pro505Arg) |
single nucleotide variant |
Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV003223482] |
Chr16:75629452 [GRCh38]
Chr16:75663350 [GRCh37]
Chr16:16q23.1 |
likely pathogenic |
| NM_005548.3(KARS1):c.1349A>C (p.Glu450Ala) |
single nucleotide variant |
not specified [RCV004251236] |
Chr16:75630498 [GRCh38]
Chr16:75664396 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1051A>G (p.Met351Val) |
single nucleotide variant |
not provided [RCV003133777] |
Chr16:75631720 [GRCh38]
Chr16:75665618 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1326G>C (p.Arg442Ser) |
single nucleotide variant |
not provided [RCV003224021] |
Chr16:75631180 [GRCh38]
Chr16:75665078 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.2T>A (p.Met1Lys) |
single nucleotide variant |
not provided [RCV003229207] |
Chr16:75647638 [GRCh38]
Chr16:75681536 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1519C>T (p.Arg507Trp) |
single nucleotide variant |
not specified [RCV004248844] |
Chr16:75629447 [GRCh38]
Chr16:75663345 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1040A>G (p.Tyr347Cys) |
single nucleotide variant |
not provided [RCV003133779] |
Chr16:75631731 [GRCh38]
Chr16:75665629 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1367G>A (p.Cys456Tyr) |
single nucleotide variant |
not provided [RCV003323172] |
Chr16:75630480 [GRCh38]
Chr16:75664378 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1601G>A (p.Cys534Tyr) |
single nucleotide variant |
Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV003323262]|not provided [RCV003443201] |
Chr16:75628663 [GRCh38]
Chr16:75662561 [GRCh37]
Chr16:16q23.1 |
likely pathogenic|uncertain significance |
| NM_005548.3(KARS1):c.1328T>C (p.Leu443Pro) |
single nucleotide variant |
Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV003323263] |
Chr16:75631178 [GRCh38]
Chr16:75665076 [GRCh37]
Chr16:16q23.1 |
likely pathogenic |
| NM_005548.3(KARS1):c.1076C>T (p.Ser359Leu) |
single nucleotide variant |
Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV003323264] |
Chr16:75631695 [GRCh38]
Chr16:75665593 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1540G>T (p.Glu514Ter) |
single nucleotide variant |
not provided [RCV003319633] |
Chr16:75629426 [GRCh38]
Chr16:75663324 [GRCh37]
Chr16:16q23.1 |
likely pathogenic |
| NM_005548.3(KARS1):c.1078+5C>G |
single nucleotide variant |
not provided [RCV003328519] |
Chr16:75631688 [GRCh38]
Chr16:75665586 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.670-1G>A |
single nucleotide variant |
not provided [RCV003328520] |
Chr16:75635806 [GRCh38]
Chr16:75669704 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1671T>C (p.Phe557=) |
single nucleotide variant |
not provided [RCV003334192] |
Chr16:75628593 [GRCh38]
Chr16:75662491 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1615T>C (p.Tyr539His) |
single nucleotide variant |
not specified [RCV004357308] |
Chr16:75628649 [GRCh38]
Chr16:75662547 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1152_1177dup (p.Arg393fs) |
duplication |
KARS1-related disorder [RCV004527905] |
Chr16:75631490..75631491 [GRCh38]
Chr16:75665388..75665389 [GRCh37]
Chr16:16q23.1 |
likely pathogenic |
| NM_005548.3(KARS1):c.1271A>G (p.Asp424Gly) |
single nucleotide variant |
not provided [RCV003482483] |
Chr16:75631235 [GRCh38]
Chr16:75665133 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3 |
copy number gain |
not provided [RCV003485121] |
Chr16:70607067..81561138 [GRCh37]
Chr16:16q22.1-23.2 |
pathogenic |
| NM_005548.3(KARS1):c.122_125del (p.Lys41fs) |
deletion |
KARS1-related disorder [RCV004536823] |
Chr16:75641661..75641664 [GRCh38]
Chr16:75675559..75675562 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| NM_005548.3(KARS1):c.849C>T (p.Phe283=) |
single nucleotide variant |
not provided [RCV003429129] |
Chr16:75634239 [GRCh38]
Chr16:75668137 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.63-2700G>T |
single nucleotide variant |
not provided [RCV003411427]|not specified [RCV004364543] |
Chr16:75644423 [GRCh38]
Chr16:75678321 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1490A>G (p.Asn497Ser) |
single nucleotide variant |
KARS1-related disorder [RCV004531704] |
Chr16:75629476 [GRCh38]
Chr16:75663374 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.238C>T (p.Arg80Cys) |
single nucleotide variant |
not provided [RCV003441468] |
Chr16:75640334 [GRCh38]
Chr16:75674232 [GRCh37]
Chr16:16q23.1 |
likely pathogenic |
| NM_005548.3(KARS1):c.953T>C (p.Ile318Thr) |
single nucleotide variant |
Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV003459156]|not specified [RCV004364764] |
Chr16:75631818 [GRCh38]
Chr16:75665716 [GRCh37]
Chr16:16q23.1 |
likely pathogenic|uncertain significance |
| NM_005548.3(KARS1):c.1173C>T (p.Phe391=) |
single nucleotide variant |
not provided [RCV003829993] |
Chr16:75631495 [GRCh38]
Chr16:75665393 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1611G>C (p.Leu537=) |
single nucleotide variant |
not provided [RCV003827397] |
Chr16:75628653 [GRCh38]
Chr16:75662551 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.936C>T (p.Ile312=) |
single nucleotide variant |
not provided [RCV003663262] |
Chr16:75631835 [GRCh38]
Chr16:75665733 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1695+12C>A |
single nucleotide variant |
not provided [RCV003692991] |
Chr16:75628557 [GRCh38]
Chr16:75662455 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1711C>T (p.Pro571Ser) |
single nucleotide variant |
not provided [RCV003573453] |
Chr16:75627978 [GRCh38]
Chr16:75661876 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1420A>T (p.Lys474Ter) |
single nucleotide variant |
not provided [RCV003697967] |
Chr16:75630427 [GRCh38]
Chr16:75664325 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| NM_005548.3(KARS1):c.102A>G (p.Ala34=) |
single nucleotide variant |
not provided [RCV003665664] |
Chr16:75641684 [GRCh38]
Chr16:75675582 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.672A>G (p.Glu224=) |
single nucleotide variant |
not provided [RCV003832617] |
Chr16:75635803 [GRCh38]
Chr16:75669701 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.336T>C (p.Tyr112=) |
single nucleotide variant |
not provided [RCV003833793] |
Chr16:75640236 [GRCh38]
Chr16:75674134 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.63-13A>G |
single nucleotide variant |
not provided [RCV003561702] |
Chr16:75641736 [GRCh38]
Chr16:75675634 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.210C>T (p.Ser70=) |
single nucleotide variant |
KARS1-related disorder [RCV004539163]|not provided [RCV003839743] |
Chr16:75641576 [GRCh38]
Chr16:75675474 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1695+13C>G |
single nucleotide variant |
not provided [RCV003811930] |
Chr16:75628556 [GRCh38]
Chr16:75662454 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1166C>T (p.Pro389Leu) |
single nucleotide variant |
not provided [RCV003580807] |
Chr16:75631502 [GRCh38]
Chr16:75665400 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.916-17C>T |
single nucleotide variant |
not provided [RCV003667921] |
Chr16:75631872 [GRCh38]
Chr16:75665770 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.604G>A (p.Glu202Lys) |
single nucleotide variant |
not provided [RCV003701302] |
Chr16:75635977 [GRCh38]
Chr16:75669875 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.108G>A (p.Lys36=) |
single nucleotide variant |
not provided [RCV003724931] |
Chr16:75641678 [GRCh38]
Chr16:75675576 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.67C>T (p.Leu23=) |
single nucleotide variant |
not provided [RCV003842533] |
Chr16:75641719 [GRCh38]
Chr16:75675617 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1253-18T>C |
single nucleotide variant |
not provided [RCV003712292] |
Chr16:75631271 [GRCh38]
Chr16:75665169 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.63-2599C>G |
single nucleotide variant |
not provided [RCV003863705] |
Chr16:75644322 [GRCh38]
Chr16:75678220 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.613C>G (p.Leu205Val) |
single nucleotide variant |
not provided [RCV003845512] |
Chr16:75635968 [GRCh38]
Chr16:75669866 [GRCh37]
Chr16:16q23.1 |
likely pathogenic |
| NM_005548.3(KARS1):c.417G>T (p.Gly139=) |
single nucleotide variant |
not provided [RCV003554350] |
Chr16:75636519 [GRCh38]
Chr16:75670417 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.309C>G (p.Ile103Met) |
single nucleotide variant |
not provided [RCV003818892] |
Chr16:75640263 [GRCh38]
Chr16:75674161 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1626C>T (p.Pro542=) |
single nucleotide variant |
not provided [RCV003842745] |
Chr16:75628638 [GRCh38]
Chr16:75662536 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1494G>A (p.Ala498=) |
single nucleotide variant |
KARS1-related disorder [RCV004542315]|not provided [RCV003885729] |
Chr16:75629472 [GRCh38]
Chr16:75663370 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1552-14C>G |
single nucleotide variant |
not provided [RCV003564724] |
Chr16:75628726 [GRCh38]
Chr16:75662624 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.223-7T>A |
single nucleotide variant |
KARS1-related disorder [RCV004537006] |
Chr16:75640356 [GRCh38]
Chr16:75674254 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1590T>C (p.Asp530=) |
single nucleotide variant |
KARS1-related disorder [RCV004539503] |
Chr16:75628674 [GRCh38]
Chr16:75662572 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.63-2697G>A |
single nucleotide variant |
KARS1-related disorder [RCV004543953] |
Chr16:75644420 [GRCh38]
Chr16:75678318 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.336T>G (p.Tyr112Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 89 [RCV004555374] |
Chr16:75640236 [GRCh38]
Chr16:75674134 [GRCh37]
Chr16:16q23.1 |
pathogenic |
| NM_005548.3(KARS1):c.-10C>T |
single nucleotide variant |
KARS1-related disorder [RCV004537084] |
Chr16:75647649 [GRCh38]
Chr16:75681547 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.-4G>A |
single nucleotide variant |
KARS1-related disorder [RCV004532169] |
Chr16:75647643 [GRCh38]
Chr16:75681541 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1658G>A (p.Arg553Gln) |
single nucleotide variant |
KARS1-related disorder [RCV004532119] |
Chr16:75628606 [GRCh38]
Chr16:75662504 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1389T>C (p.Cys463=) |
single nucleotide variant |
KARS1-related disorder [RCV004540748] |
Chr16:75630458 [GRCh38]
Chr16:75664356 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.1695+5G>T |
single nucleotide variant |
not specified [RCV004403605] |
Chr16:75628564 [GRCh38]
Chr16:75662462 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1A>G (p.Met1Val) |
single nucleotide variant |
not specified [RCV004403606] |
Chr16:75647639 [GRCh38]
Chr16:75681537 [GRCh37]
Chr16:16q23.1 |
likely pathogenic |
| NM_005548.3(KARS1):c.193G>C (p.Gly65Arg) |
single nucleotide variant |
not specified [RCV004403607] |
Chr16:75641593 [GRCh38]
Chr16:75675491 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.221A>G (p.Asn74Ser) |
single nucleotide variant |
not specified [RCV004403608] |
Chr16:75641565 [GRCh38]
Chr16:75675463 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.269A>G (p.Asn90Ser) |
single nucleotide variant |
not specified [RCV004403609] |
Chr16:75640303 [GRCh38]
Chr16:75674201 [GRCh37]
Chr16:16q23.1 |
likely benign |
| NM_005548.3(KARS1):c.35A>G (p.Asp12Gly) |
single nucleotide variant |
not specified [RCV004403610] |
Chr16:75647605 [GRCh38]
Chr16:75681503 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.370A>G (p.Ile124Val) |
single nucleotide variant |
not specified [RCV004403611] |
Chr16:75640202 [GRCh38]
Chr16:75674100 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.636G>A (p.Met212Ile) |
single nucleotide variant |
not specified [RCV004403612] |
Chr16:75635945 [GRCh38]
Chr16:75669843 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.658C>G (p.Leu220Val) |
single nucleotide variant |
not specified [RCV004403613] |
Chr16:75635923 [GRCh38]
Chr16:75669821 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.795+5G>A |
single nucleotide variant |
not specified [RCV004403614] |
Chr16:75635675 [GRCh38]
Chr16:75669573 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1486T>A (p.Cys496Ser) |
single nucleotide variant |
Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV004547224] |
Chr16:75629480 [GRCh38]
Chr16:75663378 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1109A>G (p.Lys370Arg) |
single nucleotide variant |
not specified [RCV004403598] |
Chr16:75631559 [GRCh38]
Chr16:75665457 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.920T>C (p.Leu307Pro) |
single nucleotide variant |
not specified [RCV004403595] |
Chr16:75631851 [GRCh38]
Chr16:75665749 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.944T>C (p.Val315Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 89 [RCV004556879]|not specified [RCV004403596] |
Chr16:75631827 [GRCh38]
Chr16:75665725 [GRCh37]
Chr16:16q23.1 |
likely pathogenic|uncertain significance |
| NM_005548.3(KARS1):c.63-2588A>G |
single nucleotide variant |
not specified [RCV004403597] |
Chr16:75644311 [GRCh38]
Chr16:75678209 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.85G>A (p.Ala29Thr) |
single nucleotide variant |
not specified [RCV004403604] |
Chr16:75641701 [GRCh38]
Chr16:75675599 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1373A>G (p.Asn458Ser) |
single nucleotide variant |
not specified [RCV004403599] |
Chr16:75630474 [GRCh38]
Chr16:75664372 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1490A>T (p.Asn497Ile) |
single nucleotide variant |
not specified [RCV004403601] |
Chr16:75629476 [GRCh38]
Chr16:75663374 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1551+5G>A |
single nucleotide variant |
not specified [RCV004403602] |
Chr16:75629410 [GRCh38]
Chr16:75663308 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.63-2692C>G |
single nucleotide variant |
not specified [RCV004635916] |
Chr16:75644415 [GRCh38]
Chr16:75678313 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NC_000016.9:g.(?_75678161)_(75690509_?)del |
deletion |
not provided [RCV004582887] |
Chr16:75678161..75690509 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1368C>G (p.Cys456Trp) |
single nucleotide variant |
not specified [RCV004635913] |
Chr16:75630479 [GRCh38]
Chr16:75664377 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1346G>C (p.Gly449Ala) |
single nucleotide variant |
not provided [RCV004598914] |
Chr16:75630501 [GRCh38]
Chr16:75664399 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.745A>C (p.Lys249Gln) |
single nucleotide variant |
not specified [RCV004635914] |
Chr16:75635730 [GRCh38]
Chr16:75669628 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
| NM_005548.3(KARS1):c.1173C>G (p.Phe391Leu) |
single nucleotide variant |
not specified [RCV004635915] |
Chr16:75631495 [GRCh38]
Chr16:75665393 [GRCh37]
Chr16:16q23.1 |
uncertain significance |
