KARS1 — 539 ClinVar variants
All ClinVar germline KARS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 223 flagged for review →
14 Pathogenic · 4 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 32 Conflicting · 34 Benign · 17 Benign/Likely benign · 172 Likely benign · 251 Uncertain significance
Full KARS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 223
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 20
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KARS1 p.Ala29Pro
Conflicting
Single submitter
leukoencephalopathy, progressive, infantile-onset, with or without deafness
-
KARS1 p.Ala498Val
Conflicting
Single submitter
leukodystrophy
- KARS1 p.Ala53Thr Conflicting Single submitter
- KARS1 p.Ala555Thr Conflicting Single submitter
- KARS1 p.Arg320Cys Conflicting Single submitter
- KARS1 p.Arg323Trp Conflicting Single submitter
- KARS1 p.Asn395Ser Conflicting Single submitter
- KARS1 p.Asn581Thr Conflicting Single submitter
- KARS1 p.Cys496Arg Conflicting Single submitter
-
KARS1 p.Cys534Tyr
Conflicting
Single submitter
leukoencephalopathy, progressive, infantile-onset, with or without deafness
-
KARS1 p.Ile266Thr
Conflicting
Single submitter
KARS1-related disorder
-
KARS1 p.Ile318Thr
Conflicting
Single submitter
leukoencephalopathy, progressive, infantile-onset, with or without deafness
- KARS1 p.Ile84Val Conflicting Single submitter
- KARS1 p.Leu205Val Conflicting Single submitter
-
KARS1 p.Leu302Pro
Conflicting
Single submitter
intellectual disability
-
KARS1 p.Phe239Leu
Conflicting
Single submitter
hearing loss disorder
-
KARS1 p.Phe263Val
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 89
- KARS1 p.Tyr145Cys Conflicting Single submitter
-
KARS1 p.Tyr145His
Conflicting
Single submitter
KARS & KARS1-related disorders
-
KARS1 p.Val315Ala
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 89
Predictors lean, ClinVar uncertain 155
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 155
- KARS1 p.Arg26Cys Uncertain significance Multiple submitters
-
KARS1 p.Arg507Gln
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease recessive intermediate B
- KARS1 p.Asn563His Uncertain significance Multiple submitters
- KARS1 p.Asn57Ile Uncertain significance Multiple submitters
- KARS1 p.Asp291Gly Uncertain significance Multiple submitters
- KARS1 p.Asp424His Uncertain significance Multiple submitters
- KARS1 p.Asp445Glu Uncertain significance Multiple submitters
- KARS1 p.Asp61His Uncertain significance Multiple submitters
- KARS1 p.Gln47Glu Uncertain significance Multiple submitters
- KARS1 p.Glu150Asp Uncertain significance Multiple submitters
- KARS1 p.Glu325Lys Uncertain significance Multiple submitters
- KARS1 p.Glu450Asp Uncertain significance Multiple submitters
- KARS1 p.Glu480Gln Uncertain significance Multiple submitters
-
KARS1 p.Glu92Gln
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease recessive intermediate B
- KARS1 p.Gly449Ala Uncertain significance Multiple submitters
- KARS1 p.Gly65Asp Uncertain significance Multiple submitters
- KARS1 p.His100Pro Uncertain significance Multiple submitters
- KARS1 p.Ile103Val Uncertain significance Multiple submitters
- KARS1 p.Ile172Asn Uncertain significance Multiple submitters
- KARS1 p.Ile327Val Uncertain significance Multiple submitters
- KARS1 p.Ile529Val Uncertain significance Multiple submitters
- KARS1 p.Leu216Arg Uncertain significance Multiple submitters
- KARS1 p.Lys111Gln Uncertain significance Multiple submitters
- KARS1 p.Lys31Asn Uncertain significance Multiple submitters
- KARS1 p.Lys421Arg Uncertain significance Multiple submitters
- KARS1 p.Lys578Asn Uncertain significance Multiple submitters
- KARS1 p.Met212Ile Uncertain significance Multiple submitters
- KARS1 p.Phe244Cys Uncertain significance Multiple submitters
-
KARS1 p.Phe391Leu
Uncertain significance
Multiple submitters
leukoencephalopathy, progressive, infantile-onset, with or without deafness
- KARS1 p.Pro575Arg Uncertain significance Multiple submitters
- KARS1 p.Ser256Gly Uncertain significance Multiple submitters
- KARS1 p.Thr191Ile Uncertain significance Multiple submitters
- KARS1 p.Thr285Ala Uncertain significance Multiple submitters
- KARS1 p.Thr330Met Uncertain significance Multiple submitters
- KARS1 p.Thr366Ile Uncertain significance Multiple submitters
- KARS1 p.Thr411Met Uncertain significance Multiple submitters
- KARS1 p.Thr483Ser Uncertain significance Multiple submitters
-
KARS1 p.Val128Met
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease recessive intermediate B
-
KARS1 p.Ala536Val
Uncertain significance
Single submitter
KARS1-related disorder
- KARS1 p.Ala545Gly Uncertain significance Single submitter
-
KARS1 p.Arg178Gln
Uncertain significance
Single submitter
leukoencephalopathy, progressive, infantile-onset, with or without deafness
- KARS1 p.Arg247Cys Uncertain significance Single submitter
- KARS1 p.Arg314Trp Uncertain significance Single submitter
-
KARS1 p.Arg438Trp
Uncertain significance
Single submitter
leukoencephalopathy, progressive, infantile-onset, with or without deafness
- KARS1 p.Arg442Ser Uncertain significance Single submitter
- KARS1 p.Arg485Cys Uncertain significance Single submitter
- KARS1 p.Arg485His Uncertain significance Single submitter
- KARS1 p.Arg509Trp Uncertain significance Single submitter
- KARS1 p.Arg80Pro Uncertain significance Single submitter
- KARS1 p.Asn272Thr Uncertain significance Single submitter
- KARS1 p.Asn272Tyr Uncertain significance Single submitter
- KARS1 p.Asn395His Uncertain significance Single submitter
- KARS1 p.Asn395Ile Uncertain significance Single submitter
- KARS1 p.Asn412Lys Uncertain significance Single submitter
- KARS1 p.Asn497Ile Uncertain significance Single submitter
- KARS1 p.Asn57Thr Uncertain significance Single submitter
- KARS1 p.Asp12Gly Uncertain significance Single submitter
- KARS1 p.Asp180Asn Uncertain significance Single submitter
- KARS1 p.Asp233Glu Uncertain significance Single submitter
- KARS1 p.Asp233His Uncertain significance Single submitter
- KARS1 p.Asp291His Uncertain significance Single submitter
- KARS1 p.Asp424Gly Uncertain significance Single submitter
- KARS1 p.Asp524His Uncertain significance Single submitter
- KARS1 p.Asp560Gly Uncertain significance Single submitter
- KARS1 p.Asp61Asn Uncertain significance Single submitter
- KARS1 p.Asp72Gly Uncertain significance Single submitter
- KARS1 p.Cys338Ser Uncertain significance Single submitter
- KARS1 p.Cys456Trp Uncertain significance Single submitter
- KARS1 p.Cys456Tyr Uncertain significance Single submitter
- KARS1 p.Cys496Gly Uncertain significance Single submitter
-
KARS1 p.Cys496Ser
Uncertain significance
Single submitter
leukoencephalopathy, progressive, infantile-onset, with or without deafness
- KARS1 p.Gln116His Uncertain significance Single submitter
- KARS1 p.Gln155Glu Uncertain significance Single submitter
- KARS1 p.Glu202Asp Uncertain significance Single submitter
- KARS1 p.Glu202Lys Uncertain significance Single submitter
- KARS1 p.Glu260Ala Uncertain significance Single submitter
- KARS1 p.Glu339Lys Uncertain significance Single submitter
- KARS1 p.Glu35Asp Uncertain significance Single submitter
- KARS1 p.Glu45Asp Uncertain significance Single submitter
- KARS1 p.Glu484Lys Uncertain significance Single submitter
- KARS1 p.Glu494Gln Uncertain significance Single submitter
- KARS1 p.Glu525Gln Uncertain significance Single submitter
- KARS1 p.Glu531Gly Uncertain significance Single submitter
- KARS1 p.Gly139Trp Uncertain significance Single submitter
- KARS1 p.Gly550Asp Uncertain significance Single submitter
- KARS1 p.Gly63Asp Uncertain significance Single submitter
- KARS1 p.Gly63Cys Uncertain significance Single submitter
- KARS1 p.Gly65Arg Uncertain significance Single submitter
- KARS1 p.His100Arg Uncertain significance Single submitter
- KARS1 p.His100Leu Uncertain significance Single submitter
- KARS1 p.His114Tyr Uncertain significance Single submitter
- KARS1 p.His211Pro Uncertain significance Single submitter
- KARS1 p.His348Gln Uncertain significance Single submitter
- KARS1 p.His465Tyr Uncertain significance Single submitter
- KARS1 p.Ile124Val Uncertain significance Single submitter
- KARS1 p.Ile170Val Uncertain significance Single submitter
- KARS1 p.Ile172Val Uncertain significance Single submitter
- KARS1 p.Ile235Met Uncertain significance Single submitter
- KARS1 p.Ile250Thr Uncertain significance Single submitter
- KARS1 p.Ile273Val Uncertain significance Single submitter
-
KARS1 p.Ile394Asn
Uncertain significance
Single submitter
leukoencephalopathy, progressive, infantile-onset, with or without deafness
- KARS1 p.Ile394Val Uncertain significance Single submitter
- KARS1 p.Ile422Leu Uncertain significance Single submitter
- KARS1 p.Leu147Ile Uncertain significance Single submitter
- KARS1 p.Leu176Val Uncertain significance Single submitter
- KARS1 p.Leu206Val Uncertain significance Single submitter
- KARS1 p.Leu220Phe Uncertain significance Single submitter
- KARS1 p.Leu232Phe Uncertain significance Single submitter
- KARS1 p.Leu294Phe Uncertain significance Single submitter
- KARS1 p.Leu307Pro Uncertain significance Single submitter
- KARS1 p.Leu329Ser Uncertain significance Single submitter
- KARS1 p.Leu350Phe Uncertain significance Single submitter
- KARS1 p.Leu541Val Uncertain significance Single submitter
-
KARS1 p.Lys141Gln
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 89
- KARS1 p.Lys281Asn Uncertain significance Single submitter
- KARS1 p.Lys356Arg Uncertain significance Single submitter
- KARS1 p.Lys39Glu Uncertain significance Single submitter
- KARS1 p.Lys479Glu Uncertain significance Single submitter
- KARS1 p.Lys519Asn Uncertain significance Single submitter
- KARS1 p.Met292Leu Uncertain significance Single submitter
- KARS1 p.Met296Val Uncertain significance Single submitter
- KARS1 p.Met361Ile Uncertain significance Single submitter
- KARS1 p.Phe169Ile Uncertain significance Single submitter
- KARS1 p.Phe257Cys Uncertain significance Single submitter
- KARS1 p.Pro188Leu Uncertain significance Single submitter
-
KARS1 p.Pro269Ala
Uncertain significance
Single submitter
leukoencephalopathy, progressive, infantile-onset, with or without deafness
- KARS1 p.Pro269His Uncertain significance Single submitter
- KARS1 p.Pro300Ser Uncertain significance Single submitter
-
KARS1 p.Pro505Ala
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 89
- KARS1 p.Pro571Ser Uncertain significance Single submitter
- KARS1 p.Pro94Ser Uncertain significance Single submitter
- KARS1 p.Ser113Thr Uncertain significance Single submitter
- KARS1 p.Ser256Arg Uncertain significance Single submitter
-
KARS1 p.Ser359Leu
Uncertain significance
Single submitter
leukoencephalopathy, progressive, infantile-onset, with or without deafness
- KARS1 p.Ser44Asn Uncertain significance Single submitter
- KARS1 p.Thr122Ala Uncertain significance Single submitter
- KARS1 p.Thr125Ile Uncertain significance Single submitter
- KARS1 p.Thr191Asn Uncertain significance Single submitter
- KARS1 p.Thr225Ala Uncertain significance Single submitter
- KARS1 p.Thr366Ser Uncertain significance Single submitter
- KARS1 p.Thr372Ile Uncertain significance Single submitter
- KARS1 p.Thr52Ser Uncertain significance Single submitter
- KARS1 p.Thr585Ala Uncertain significance Single submitter
- KARS1 p.Thr585Ser Uncertain significance Single submitter
- KARS1 p.Thr587Lys Uncertain significance Single submitter
- KARS1 p.Tyr303Cys Uncertain significance Single submitter
- KARS1 p.Tyr344Cys Uncertain significance Single submitter
- KARS1 p.Val152Leu Uncertain significance Single submitter
- KARS1 p.Val152Met Uncertain significance Single submitter
- KARS1 p.Val432Ile Uncertain significance Single submitter
Predictors split 48
The independent predictors disagree with each other — read with care.
- KARS1 p.Arg26Leu Uncertain significance Multiple submitters
- KARS1 p.Arg392Gln Uncertain significance Multiple submitters
- KARS1 p.Arg420Cys Benign/Likely benign Multiple submitters
- KARS1 p.Arg420His Uncertain significance Multiple submitters
- KARS1 p.Arg438Gln Uncertain significance Multiple submitters
- KARS1 p.Arg507Trp Uncertain significance Multiple submitters
- KARS1 p.Glu450Ala Uncertain significance Multiple submitters
- KARS1 p.Met292Val Uncertain significance Multiple submitters
- KARS1 p.Met351Val Uncertain significance Multiple submitters
- KARS1 p.Met396Val Uncertain significance Multiple submitters
- KARS1 p.Ser81Arg Uncertain significance Multiple submitters
- KARS1 p.Trp475Cys Uncertain significance Multiple submitters
- KARS1 p.Ala137Gly Uncertain significance Single submitter
- KARS1 p.Ala137Pro Uncertain significance Single submitter
- KARS1 p.Ala403Thr Uncertain significance Single submitter
- KARS1 p.Ala536Ser Uncertain significance Single submitter
- KARS1 p.Arg148Gln Uncertain significance Single submitter
- KARS1 p.Arg228His Uncertain significance Single submitter
-
KARS1 p.Arg393Gln
Conflicting
Single submitter
Charcot-Marie-Tooth disease recessive intermediate B
- KARS1 p.Arg509Gln Uncertain significance Single submitter
- KARS1 p.Asn458Ser Uncertain significance Single submitter
- KARS1 p.Asn74Ser Uncertain significance Single submitter
-
KARS1 p.Asp349Asn
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 89
- KARS1 p.Asp376Gly Uncertain significance Single submitter
- KARS1 p.Asp424Asn Uncertain significance Single submitter
- KARS1 p.Glu317Asp Uncertain significance Single submitter
- KARS1 p.Glu401Gln Uncertain significance Single submitter
- KARS1 p.Ile250Met Uncertain significance Single submitter
-
KARS1 p.Ile495Met
Conflicting
Single submitter
hearing loss disorder
- KARS1 p.Ile529Thr Uncertain significance Single submitter
- KARS1 p.Lys192Asn Uncertain significance Single submitter
- KARS1 p.Lys249Gln Uncertain significance Single submitter
- KARS1 p.Lys36Glu Uncertain significance Single submitter
- KARS1 p.Lys370Arg Uncertain significance Single submitter
- KARS1 p.Lys407Met Uncertain significance Single submitter
- KARS1 p.Lys565Arg Uncertain significance Single submitter
- KARS1 p.Lys88Asn Uncertain significance Single submitter
- KARS1 p.Met351Leu Uncertain significance Single submitter
- KARS1 p.Pro378Ser Uncertain significance Single submitter
- KARS1 p.Pro389Leu Uncertain significance Single submitter
- KARS1 p.Pro409Ala Uncertain significance Single submitter
- KARS1 p.Pro435Arg Uncertain significance Single submitter
- KARS1 p.Ser248Cys Uncertain significance Single submitter
- KARS1 p.Thr372Ser Uncertain significance Single submitter
- KARS1 p.Thr559Ala Uncertain significance Single submitter
- KARS1 p.Tyr231Phe Uncertain significance Single submitter
- KARS1 p.Tyr347Cys Uncertain significance Single submitter
- KARS1 p.Tyr539His Uncertain significance Single submitter
All KARS1 variants
Pathogenic 14
- c.1696-2A>C Single submitter autosomal recessive nonsyndromic hearing loss 89
- p.Arg228Cys Single submitter autosomal recessive nonsyndromic hearing loss 89
- p.Gln116Ter Single submitter
- p.Gly277Ter Single submitter leukoencephalopathy, progressive, infantile-onset, with or without deafness
- p.Leu258delinsPhePhePhePhePhePhePheXaaXaaXaaXaaGlyArgGlyArgProArgGlyArgGlyGluArgGlyGluGlyArgGlyGluArgGlyGluGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgAlaHisIleTer Single submitter
- p.Leu452fs Single submitter lactic acidosis
- p.Lys474Ter Single submitter
- p.Tyr112Ter Single submitter autosomal recessive nonsyndromic hearing loss 89
- c.795+1G>A No assertion criteria LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS
- p.Glu525Lys No assertion criteria leukoencephalopathy, progressive, infantile-onset, with or without deafness
- p.Leu105His No assertion criteria Charcot-Marie-Tooth disease recessive intermediate B
- p.Leu568Phe No assertion criteria LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS
- p.Pro505Ser No assertion criteria deafness, congenital, and adult-onset progressive leukoencephalopathy
- p.Tyr145fs No assertion criteria Charcot-Marie-Tooth disease recessive intermediate B
Pathogenic/Likely pathogenic 4
- p.Asn563Ile Multiple submitters
- p.Lys41fs Multiple submitters leukoencephalopathy, progressive, infantile-onset, with or without deafness
- p.Pro200Leu Multiple submitters KARS-related disorder
- p.Thr559Met Multiple submitters leukoencephalopathy, progressive, infantile-onset, with or without deafness
Likely pathogenic 15
- p.Arg230Ser Multiple submitters leukoencephalopathy, progressive, infantile-onset, with or without deafness
- p.Pro505Arg Multiple submitters leukoencephalopathy, progressive, infantile-onset, with or without deafness
- c.1253-1G>C Single submitter
- c.63-2578C>G Single submitter KARS-related disorder
- p.Arg393fs Single submitter KARS1-related disorder
- p.Arg553Ter Single submitter
- p.Arg80Cys Single submitter
- p.Gln86Ter Single submitter Global developmental delay
- p.Glu514Ter Single submitter
- p.Glu8Ter Single submitter Inborn genetic diseases
- p.Gly183Glu Single submitter KARS1-related disorder
- p.Leu302Phe Single submitter
- p.Leu443Pro Single submitter leukoencephalopathy, progressive, infantile-onset, with or without deafness
- p.Phe461Cys Single submitter
- p.Tyr373Ter Single submitter autosomal recessive nonsyndromic hearing loss 89
Conflicting classifications of pathogenicity 32
- c.1695+4C>T Single submitter
- c.222+10C>T Single submitter
- c.482+8G>A Single submitter
- c.63-2576T>C Single submitter
- c.669+17T>C Single submitter
- c.669+6C>T Single submitter
- c.916-11GTT[2] Single submitter
- p.Ala29Pro Single submitter leukoencephalopathy, progressive, infantile-onset, with or without deafness ⚠
- p.Ala498Val Single submitter leukodystrophy ⚠
- p.Ala53Thr Single submitter ⚠
- p.Ala555Thr Single submitter ⚠
- p.Arg320Cys Single submitter ⚠
- p.Arg323Trp Single submitter ⚠
- p.Arg393Gln Single submitter Charcot-Marie-Tooth disease recessive intermediate B ⚠
- p.Asn395Ser Single submitter ⚠
- p.Asn581Thr Single submitter ⚠
- p.Asp349Asn Single submitter autosomal recessive nonsyndromic hearing loss 89 ⚠
- p.Cys496Arg Single submitter ⚠
- p.Cys534Tyr Single submitter leukoencephalopathy, progressive, infantile-onset, with or without deafness ⚠
- p.Ile266Thr Single submitter KARS1-related disorder ⚠
- p.Ile318Thr Single submitter leukoencephalopathy, progressive, infantile-onset, with or without deafness ⚠
- p.Ile495Met Single submitter hearing loss disorder ⚠
- p.Ile84Val Single submitter ⚠
- p.Leu205Val Single submitter ⚠
- p.Leu302Pro Single submitter intellectual disability ⚠
- p.Met1Val Single submitter
- p.Phe239Leu Single submitter hearing loss disorder ⚠
- p.Phe263Val Single submitter autosomal recessive nonsyndromic hearing loss 89 ⚠
- p.Phe391= Single submitter
- p.Tyr145Cys Single submitter ⚠
- p.Tyr145His Single submitter KARS & KARS1-related disorders ⚠
- p.Val315Ala Single submitter autosomal recessive nonsyndromic hearing loss 89 ⚠
Benign 34
- c.1079-7C>T Multiple submitters
- c.1253-77del Multiple submitters
- c.1338+169G>A Multiple submitters
- c.1338+47T>C Multiple submitters
- c.1338+61C>T Multiple submitters
- c.1424+253C>G Multiple submitters
- c.1552-273G>A Multiple submitters
- c.1552-315A>C Multiple submitters
- c.223-229G>A Multiple submitters
- c.223-23dup Multiple submitters
- c.388+129C>T Multiple submitters
- c.388+74G>A Multiple submitters
- c.389-85del Multiple submitters
- c.483-132G>T Multiple submitters
- c.62+208G>A Multiple submitters
- c.795+312C>T Multiple submitters
- c.796-135C>T Multiple submitters
- c.915+117G>A Multiple submitters
- c.915+280G>A Multiple submitters
- p.Arg25= Multiple submitters
- p.Asn57Ser Multiple submitters
- p.Thr595Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 89
- c.1339-143TAA[7] Single submitter
- c.1339-272C>T Single submitter
- c.1551+123dup Single submitter
- c.1551+207C>T Single submitter
- c.1695+187del Single submitter
- c.1695+247G>A Single submitter
- c.223-7_223-6del Single submitter Charcot-Marie-Tooth disease recessive intermediate B
- c.389-95dup Single submitter
- c.795+281_795+284del Single submitter
- c.915+56C>G Single submitter
- c.916-180C>G Single submitter
- c.916-189G>A Single submitter
Benign/Likely benign 17
- c.1079-14G>A Multiple submitters
- c.223-6del Multiple submitters Charcot-Marie-Tooth disease recessive intermediate B
- c.223-7_223-6dup Multiple submitters
- c.223-8_223-6del Multiple submitters autosomal recessive nonsyndromic hearing loss 89
- c.388+19A>T Multiple submitters
- c.63-19G>A Multiple submitters
- c.63-2653C>T Multiple submitters
- p.Arg420Cys Multiple submitters ⚠
- p.Gly594= Multiple submitters
- p.Ile274Met Multiple submitters Charcot-Marie-Tooth disease
- p.Leu142= Multiple submitters
- p.Leu558= Multiple submitters
- p.Phe387= Multiple submitters
- p.Pro575= Multiple submitters
- p.Thr204= Multiple submitters
- p.Tyr201His Multiple submitters
- p.Tyr253= Multiple submitters
Likely benign 172
- c.1252+9A>C Multiple submitters
- c.1425-13C>T Multiple submitters
- c.1551+10G>A Multiple submitters
- c.1552-6T>G Multiple submitters
- c.223-6T>A Multiple submitters
- c.62+56A>G Multiple submitters
- c.63-20C>T Multiple submitters
- c.916-13G>C Multiple submitters
- c.916-85A>G Multiple submitters
- c.*26C>G Multiple submitters
- c.*33G>A Multiple submitters
- c.*59G>A Multiple submitters
- p.Ala498= Multiple submitters
- p.Asp107= Multiple submitters
- p.Asp425= Multiple submitters
- p.Cys456= Multiple submitters
- p.Gln110= Multiple submitters
- p.Ile103Met Multiple submitters
- p.Leu115= Multiple submitters
- p.Leu121= Multiple submitters
- p.Leu236= Multiple submitters
- p.Leu329= Multiple submitters
- p.Leu488= Multiple submitters
- p.Lys492= Multiple submitters
- p.Phe283= Multiple submitters
- p.Pro200= Multiple submitters
- p.Thr285= Multiple submitters
- p.Thr354= Multiple submitters
- p.Thr559= Multiple submitters
- c.1078+12TC[5] Single submitter
- c.1078+15C>G Single submitter
- c.1078+20A>C Single submitter
- c.1253-10del Single submitter
- c.1253-18T>C Single submitter
- c.1253-9G>A Single submitter
- c.1338+12C>T Single submitter
- c.1338+16C>G Single submitter
- c.1338+19C>G Single submitter
- c.1339-17T>C Single submitter
- c.1339-6A>C Single submitter
- c.1424+34C>T Single submitter
- c.1424+49G>A Single submitter
- c.1425-10C>T Single submitter
- c.1425-31T>C Single submitter
- c.1425-5C>T Single submitter
- c.1551+14C>A Single submitter
- c.1551+14C>G Single submitter
- c.1551+20G>A Single submitter
- c.1551+211T>C Single submitter
- c.1551+302G>T Single submitter
- c.1552-12T>G Single submitter
- c.1552-14C>G Single submitter
- c.1552-16C>G Single submitter
- c.1552-220del Single submitter
- c.1552-257C>T Single submitter
- c.1552-263C>G Single submitter
- c.1695+12C>A Single submitter
- c.1695+13C>G Single submitter
- c.1695+5G>A Single submitter autosomal recessive nonsyndromic hearing loss 89
- c.1696-11A>G Single submitter
- c.1696-21G>A Single submitter
- c.222+166G>A Single submitter
- c.222+231C>T Single submitter
- c.222+71G>A Single submitter
- c.222+86del Single submitter
- c.223-251T>C Single submitter
- c.388+130A>T Single submitter
- c.388+13C>A Single submitter
- c.388+20A>G Single submitter
- c.388+44A>C Single submitter
- c.388+58A>T Single submitter
- c.388+9T>G Single submitter
- c.389-7T>C Single submitter
- c.482+15C>T Single submitter
- c.482+7C>T Single submitter
- c.483-17A>T Single submitter
- c.483-18C>T Single submitter
- c.483-29T>C Single submitter
- c.62+269G>C Single submitter
- c.63-12T>C Single submitter
- c.63-13A>G Single submitter
- c.63-16T>C Single submitter
- c.63-2541C>A Single submitter
- c.63-2545C>T Single submitter
- c.63-2583C>T Single submitter
- c.63-258G>A Single submitter
- c.63-2643G>A Single submitter
- c.63-2661C>G Single submitter
- c.63-2661C>T Single submitter
- c.63-2670G>T Single submitter
- c.63-2700G>A Single submitter
- c.63-2723G>C Single submitter
- c.669+10_669+23del Single submitter
- c.669+16C>T Single submitter
- c.669+7G>A Single submitter
- c.795+18C>T Single submitter
- c.795+22A>C Single submitter
- c.795+6G>A Single submitter
- c.796-282C>A Single submitter
- c.796-9C>A Single submitter
- c.915+14G>C Single submitter
- c.915+8G>A Single submitter
- c.916-10T>G Single submitter
- c.916-110C>T Single submitter
- c.916-147G>A Single submitter
- c.916-17C>T Single submitter
- c.916-18G>A Single submitter
- c.916-5G>A Single submitter
- c.916-5G>C Single submitter
- c.-11C>T Single submitter
- c.-184C>T Single submitter
- p.Ala134= Single submitter
- p.Ala137= Single submitter
- p.Ala3= Single submitter
- p.Ala34= Single submitter
- p.Ala53= Single submitter
- p.Ala54= Single submitter
- p.Ala572= Single submitter
- p.Arg80= Single submitter
- p.Asn62= Single submitter
- p.Asn90Ser Single submitter
- p.Asp123= Single submitter
- p.Gln50= Single submitter
- p.Glu150= Single submitter
- p.Glu166= Single submitter
- p.Glu22= Single submitter
- p.Glu224= Single submitter
- p.Glu30= Single submitter
- p.Glu317= Single submitter
- p.Glu514= Single submitter
- p.Gly139= Single submitter
- p.Gly262= Single submitter
- p.Gly360= Single submitter
- p.Ile143= Single submitter
- p.Ile312= Single submitter
- p.Ile468= Single submitter
- p.Leu196= Single submitter
- p.Leu23= Single submitter
- p.Leu452= Single submitter
- p.Leu537= Single submitter
- p.Leu568= Single submitter
- p.Leu569= Single submitter
- p.Lys31= Single submitter
- p.Lys36= Single submitter
- p.Lys41= Single submitter
- p.Lys474= Single submitter
- p.Phe257= Single submitter
- p.Phe557= Single submitter
- p.Pro208= Single submitter
- p.Pro269= Single submitter
- p.Pro390= Single submitter
- p.Pro409= Single submitter
- p.Pro542= Single submitter
- p.Pro543= Single submitter
- p.Ser70= Single submitter
- p.Ter598= Single submitter
- p.Thr125= Single submitter
- p.Thr460= Single submitter
- p.Thr584= Single submitter
- p.Thr587= Single submitter
- p.Tyr112= Single submitter
- p.Tyr383= Single submitter
- p.Val128= Single submitter
- p.Val279= Single submitter
- p.Val448= Single submitter
- p.Val554= Single submitter
- c.223-7T>A No assertion criteria KARS1-related disorder
- c.63-2697G>A No assertion criteria KARS1-related disorder
- c.-10C>T No assertion criteria KARS1-related disorder
- c.-4G>A No assertion criteria KARS1-related disorder
- p.Asp530= No assertion criteria KARS1-related disorder
- p.Cys463= No assertion criteria KARS1-related disorder
Uncertain significance 251
- c.63-2623G>A Multiple submitters
- c.63-2657A>T Multiple submitters
- c.63-2662G>A Multiple submitters
- c.63-2663C>T Multiple submitters
- c.63-2684A>T Multiple submitters
- c.63-2698C>T Multiple submitters
- c.63-2700G>T Multiple submitters
- c.795+3A>C Multiple submitters
- p.Arg26Cys Multiple submitters ⚠
- p.Arg26Leu Multiple submitters ⚠
- p.Arg392Gln Multiple submitters ⚠
- p.Arg420His Multiple submitters ⚠
- p.Arg438Gln Multiple submitters ⚠
- p.Arg507Gln Multiple submitters Charcot-Marie-Tooth disease recessive intermediate B ⚠
- p.Arg507Trp Multiple submitters ⚠
- p.Asn563His Multiple submitters ⚠
- p.Asn57Ile Multiple submitters ⚠
- p.Asp291Gly Multiple submitters ⚠
- p.Asp424His Multiple submitters ⚠
- p.Asp445Glu Multiple submitters ⚠
- p.Asp61His Multiple submitters ⚠
- p.Gln47Glu Multiple submitters ⚠
- p.Glu150Asp Multiple submitters ⚠
- p.Glu168del Multiple submitters
- p.Glu325Lys Multiple submitters ⚠
- p.Glu450Ala Multiple submitters ⚠
- p.Glu450Asp Multiple submitters ⚠
- p.Glu480Gln Multiple submitters ⚠
- p.Glu576Lys Multiple submitters
- p.Glu92Gln Multiple submitters Charcot-Marie-Tooth disease recessive intermediate B ⚠
- p.Gly449Ala Multiple submitters ⚠
- p.Gly65Asp Multiple submitters ⚠
- p.His100Pro Multiple submitters ⚠
- p.Ile103Val Multiple submitters ⚠
- p.Ile172Asn Multiple submitters ⚠
- p.Ile327Val Multiple submitters ⚠
- p.Ile529Val Multiple submitters ⚠
- p.Leu216Arg Multiple submitters ⚠
- p.Lys111Gln Multiple submitters ⚠
- p.Lys31Asn Multiple submitters ⚠
- p.Lys421Arg Multiple submitters ⚠
- p.Lys578Asn Multiple submitters ⚠
- p.Lys579del Multiple submitters
- p.Met212Ile Multiple submitters ⚠
- p.Met292Val Multiple submitters ⚠
- p.Met351Val Multiple submitters ⚠
- p.Met396Val Multiple submitters ⚠
- p.Met491Thr Multiple submitters
- p.Phe244Cys Multiple submitters ⚠
- p.Phe391Leu Multiple submitters leukoencephalopathy, progressive, infantile-onset, with or without deafness ⚠
- p.Pro575Arg Multiple submitters ⚠
- p.Ser256Gly Multiple submitters ⚠
- p.Ser81Arg Multiple submitters ⚠
- p.Thr191Ile Multiple submitters ⚠
- p.Thr285Ala Multiple submitters ⚠
- p.Thr330Met Multiple submitters ⚠
- p.Thr366Ile Multiple submitters ⚠
- p.Thr411Met Multiple submitters ⚠
- p.Thr419Ile Multiple submitters Charcot-Marie-Tooth disease recessive intermediate B
- p.Thr483Ser Multiple submitters ⚠
- p.Trp475Cys Multiple submitters ⚠
- p.Val128Met Multiple submitters Charcot-Marie-Tooth disease recessive intermediate B ⚠
- p.Val279Met Multiple submitters
- p.Val582Glu Multiple submitters
- c.1078+5C>G Single submitter
- c.1078+7C>T Single submitter
- c.1252+4A>C Single submitter
- c.1253-3C>T Single submitter
- c.1424+6A>T Single submitter
- c.1425-3T>C Single submitter
- c.1551+5G>A Single submitter
- c.1695+5G>T Single submitter
- c.222+3G>A Single submitter
- c.63-2588A>G Single submitter
- c.63-2599C>G Single submitter
- c.63-2602T>A Single submitter
- c.63-2608C>A Single submitter
- c.63-2609G>C Single submitter
- c.63-2617G>C Single submitter
- c.63-2692C>G Single submitter
- c.63-2700G>C Single submitter
- c.63-2704T>C Single submitter
- c.63-2739G>A Single submitter
- c.63-4A>G Single submitter
- c.670-1G>A Single submitter
- c.795+5G>A Single submitter
- c.-1G>T Single submitter
- p.Ala129Thr Single submitter
- p.Ala137Gly Single submitter ⚠
- p.Ala137Pro Single submitter ⚠
- p.Ala29Thr Single submitter
- p.Ala2Val Single submitter
- p.Ala403Thr Single submitter ⚠
- p.Ala536Ser Single submitter ⚠
- p.Ala536Val Single submitter KARS1-related disorder ⚠
- p.Ala545Gly Single submitter ⚠
- p.Arg148Gln Single submitter ⚠
- p.Arg178Gln Single submitter leukoencephalopathy, progressive, infantile-onset, with or without deafness ⚠
- p.Arg228His Single submitter ⚠
- p.Arg247Cys Single submitter ⚠
- p.Arg314Trp Single submitter ⚠
- p.Arg438Trp Single submitter leukoencephalopathy, progressive, infantile-onset, with or without deafness ⚠
- p.Arg442Ser Single submitter ⚠
- p.Arg485Cys Single submitter ⚠
- p.Arg485His Single submitter ⚠
- p.Arg509Gln Single submitter ⚠
- p.Arg509Trp Single submitter ⚠
- p.Arg80Pro Single submitter ⚠
- p.Asn272Thr Single submitter ⚠
- p.Asn272Tyr Single submitter ⚠
- p.Asn395His Single submitter ⚠
- p.Asn395Ile Single submitter ⚠
- p.Asn412Lys Single submitter ⚠
- p.Asn458Ser Single submitter ⚠
- p.Asn497Ile Single submitter ⚠
- p.Asn57Thr Single submitter ⚠
- p.Asn74Ser Single submitter ⚠
- p.Asp12Gly Single submitter ⚠
- p.Asp180Asn Single submitter ⚠
- p.Asp233Glu Single submitter ⚠
- p.Asp233His Single submitter ⚠
- p.Asp291His Single submitter ⚠
- p.Asp313Asn Single submitter
- p.Asp376Gly Single submitter ⚠
- p.Asp424Asn Single submitter ⚠
- p.Asp424Gly Single submitter ⚠
- p.Asp524His Single submitter ⚠
- p.Asp560Gly Single submitter ⚠
- p.Asp577His Single submitter
- p.Asp61Asn Single submitter ⚠
- p.Asp72Gly Single submitter ⚠
- p.Cys338Ser Single submitter ⚠
- p.Cys456Trp Single submitter ⚠
- p.Cys456Tyr Single submitter ⚠
- p.Cys463Tyr Single submitter
- p.Cys496Gly Single submitter ⚠
- p.Cys496Ser Single submitter leukoencephalopathy, progressive, infantile-onset, with or without deafness ⚠
- p.Gln116His Single submitter ⚠
- p.Gln155Glu Single submitter ⚠
- p.Gln75= Single submitter
- p.Glu202Asp Single submitter ⚠
- p.Glu202Lys Single submitter ⚠
- p.Glu260Ala Single submitter ⚠
- p.Glu317Asp Single submitter ⚠
- p.Glu339Lys Single submitter ⚠
- p.Glu35Asp Single submitter ⚠
- p.Glu401Gln Single submitter ⚠
- p.Glu45Asp Single submitter ⚠
- p.Glu484Lys Single submitter ⚠
- p.Glu494Gln Single submitter ⚠
- p.Glu525Gln Single submitter ⚠
- p.Glu531Gly Single submitter ⚠
- p.Glu576Ter Single submitter
- p.Gly139Trp Single submitter ⚠
- p.Gly550Asp Single submitter ⚠
- p.Gly63Asp Single submitter ⚠
- p.Gly63Cys Single submitter ⚠
- p.Gly65Arg Single submitter ⚠
- p.His100Arg Single submitter ⚠
- p.His100Leu Single submitter ⚠
- p.His114Tyr Single submitter ⚠
- p.His211Pro Single submitter ⚠
- p.His348Gln Single submitter ⚠
- p.His465Tyr Single submitter ⚠
- p.Ile124Val Single submitter ⚠
- p.Ile170Val Single submitter ⚠
- p.Ile172Val Single submitter ⚠
- p.Ile235Met Single submitter ⚠
- p.Ile250Met Single submitter ⚠
- p.Ile250Thr Single submitter ⚠
- p.Ile273Val Single submitter ⚠
- p.Ile394Asn Single submitter leukoencephalopathy, progressive, infantile-onset, with or without deafness ⚠
- p.Ile394Val Single submitter ⚠
- p.Ile422Leu Single submitter ⚠
- p.Ile529Thr Single submitter ⚠
- p.Leu147Ile Single submitter ⚠
- p.Leu176Val Single submitter ⚠
- p.Leu206Val Single submitter ⚠
- p.Leu220Phe Single submitter ⚠
- p.Leu220Val Single submitter
- p.Leu232Phe Single submitter ⚠
- p.Leu294Phe Single submitter ⚠
- p.Leu307Pro Single submitter ⚠
- p.Leu329Ser Single submitter ⚠
- p.Leu350Phe Single submitter ⚠
- p.Leu541Val Single submitter ⚠
- p.Lys141Gln Single submitter autosomal recessive nonsyndromic hearing loss 89 ⚠
- p.Lys192Asn Single submitter ⚠
- p.Lys249Gln Single submitter ⚠
- p.Lys281Asn Single submitter ⚠
- p.Lys356Arg Single submitter ⚠
- p.Lys36Glu Single submitter ⚠
- p.Lys370Arg Single submitter ⚠
- p.Lys39Glu Single submitter ⚠
- p.Lys407Met Single submitter ⚠
- p.Lys479Glu Single submitter ⚠
- p.Lys519Asn Single submitter ⚠
- p.Lys565Arg Single submitter ⚠
- p.Lys78Glu Single submitter
- p.Lys88Asn Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met1Lys Single submitter
- p.Met292Leu Single submitter ⚠
- p.Met296Val Single submitter ⚠
- p.Met351Leu Single submitter ⚠
- p.Met361Ile Single submitter ⚠
- p.Phe169Ile Single submitter ⚠
- p.Phe257Cys Single submitter ⚠
- p.Pro188Leu Single submitter ⚠
- p.Pro269Ala Single submitter leukoencephalopathy, progressive, infantile-onset, with or without deafness ⚠
- p.Pro269His Single submitter ⚠
- p.Pro300Ser Single submitter ⚠
- p.Pro378Ser Single submitter ⚠
- p.Pro389Leu Single submitter ⚠
- p.Pro409Ala Single submitter ⚠
- p.Pro435Arg Single submitter ⚠
- p.Pro505Ala Single submitter autosomal recessive nonsyndromic hearing loss 89 ⚠
- p.Pro571Ser Single submitter ⚠
- p.Pro94Leu Single submitter
- p.Pro94Ser Single submitter ⚠
- p.Ser113Thr Single submitter ⚠
- p.Ser248Cys Single submitter ⚠
- p.Ser256Arg Single submitter ⚠
- p.Ser359Leu Single submitter leukoencephalopathy, progressive, infantile-onset, with or without deafness ⚠
- p.Ser44Asn Single submitter ⚠
- p.Thr122Ala Single submitter ⚠
- p.Thr125Ile Single submitter ⚠
- p.Thr191Asn Single submitter ⚠
- p.Thr225Ala Single submitter ⚠
- p.Thr366Ser Single submitter ⚠
- p.Thr372Ile Single submitter ⚠
- p.Thr372Ser Single submitter ⚠
- p.Thr52Ser Single submitter ⚠
- p.Thr559Ala Single submitter ⚠
- p.Thr585Ala Single submitter ⚠
- p.Thr585Ser Single submitter ⚠
- p.Thr587Lys Single submitter ⚠
- p.Tyr231Phe Single submitter ⚠
- p.Tyr303Cys Single submitter ⚠
- p.Tyr344Cys Single submitter ⚠
- p.Tyr347Cys Single submitter ⚠
- p.Tyr539His Single submitter ⚠
- p.Val152Leu Single submitter ⚠
- p.Val152Met Single submitter ⚠
- p.Val432Ile Single submitter ⚠
- p.Val554Ile Single submitter ⚠
- p.Val554Phe Single submitter ⚠
- p.Val71Ala Single submitter ⚠
- p.Arg148fs No assertion criteria Charcot-Marie-Tooth disease
- p.Arg553Gln No assertion criteria KARS1-related disorder ⚠
- p.Asn497Ser No assertion criteria KARS1-related disorder ⚠