IARS1 — 491 ClinVar variants
All ClinVar germline IARS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 236 flagged for review →
22 Pathogenic · 3 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 6 Conflicting · 26 Benign · 9 Benign/Likely benign · 159 Likely benign · 251 Uncertain significance
Full IARS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 236
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 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- IARS1 p.Arg686Lys Conflicting Single submitter
- IARS1 p.Arg808His Conflicting Single submitter
- IARS1 p.Ile614Val Conflicting Single submitter
-
IARS1 p.Leu679Ile
Conflicting
Single submitter
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
Predictors lean, ClinVar uncertain 176
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 176
- IARS1 p.Ala954Gly Uncertain significance Multiple submitters
- IARS1 p.Ala954Ser Uncertain significance Multiple submitters
-
IARS1 p.Arg140Gln
Uncertain significance
Multiple submitters
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- IARS1 p.Arg634Lys Uncertain significance Multiple submitters
- IARS1 p.Arg661His Uncertain significance Multiple submitters
-
IARS1 p.Arg694Gln
Uncertain significance
Multiple submitters
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
-
IARS1 p.Arg808Gly
Uncertain significance
Multiple submitters
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- IARS1 p.Arg946His Uncertain significance Multiple submitters
- IARS1 p.Asn118Asp Uncertain significance Multiple submitters
- IARS1 p.Asn690Ser Uncertain significance Multiple submitters
-
IARS1 p.Cys1153Arg
Uncertain significance
Multiple submitters
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- IARS1 p.Gln3His Uncertain significance Multiple submitters
- IARS1 p.Gln616Arg Uncertain significance Multiple submitters
- IARS1 p.Gln928Arg Uncertain significance Multiple submitters
-
IARS1 p.Glu936Lys
Uncertain significance
Multiple submitters
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
-
IARS1 p.Gly644Ser
Uncertain significance
Multiple submitters
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- IARS1 p.Gly907Arg Uncertain significance Multiple submitters
- IARS1 p.His55Tyr Uncertain significance Multiple submitters
- IARS1 p.Ile18Val Uncertain significance Multiple submitters
- IARS1 p.Ile341Val Uncertain significance Multiple submitters
- IARS1 p.Ile588Thr Uncertain significance Multiple submitters
- IARS1 p.Ile729Thr Uncertain significance Multiple submitters
- IARS1 p.Ile850Val Uncertain significance Multiple submitters
- IARS1 p.Ile9Val Uncertain significance Multiple submitters
- IARS1 p.Leu813Phe Uncertain significance Multiple submitters
- IARS1 p.Lys110Glu Uncertain significance Multiple submitters
-
IARS1 p.Met1188Thr
Uncertain significance
Multiple submitters
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- IARS1 p.Met769Thr Uncertain significance Multiple submitters
- IARS1 p.Ser1116Arg Uncertain significance Multiple submitters
- IARS1 p.Ser965Pro Uncertain significance Multiple submitters
- IARS1 p.Thr465Ala Uncertain significance Multiple submitters
- IARS1 p.Thr950Ile Uncertain significance Multiple submitters
- IARS1 p.Tyr283Cys Uncertain significance Multiple submitters
- IARS1 p.Val1191Met Uncertain significance Multiple submitters
- IARS1 p.Val176Met Uncertain significance Multiple submitters
- IARS1 p.Val587Ile Uncertain significance Multiple submitters
- IARS1 p.Val667Ile Uncertain significance Multiple submitters
-
IARS1 p.Val834Met
Uncertain significance
Multiple submitters
IARS1-related disorder
- IARS1 p.Ala1079Val Uncertain significance Single submitter
- IARS1 p.Ala1089Ser Uncertain significance Single submitter
- IARS1 p.Ala1089Thr Uncertain significance Single submitter
- IARS1 p.Ala1089Val Uncertain significance Single submitter
- IARS1 p.Ala1130Gly Uncertain significance Single submitter
- IARS1 p.Ala1130Pro Uncertain significance Single submitter
- IARS1 p.Ala1214Thr Uncertain significance Single submitter
- IARS1 p.Ala908Asp Uncertain significance Single submitter
- IARS1 p.Ala908Gly Uncertain significance Single submitter
- IARS1 p.Arg1221Gln Uncertain significance Single submitter
- IARS1 p.Arg1223Lys Uncertain significance Single submitter
- IARS1 p.Arg254Gln Uncertain significance Single submitter
- IARS1 p.Arg262Gly Uncertain significance Single submitter
- IARS1 p.Arg334Gln Uncertain significance Single submitter
- IARS1 p.Arg418Gln Uncertain significance Single submitter
- IARS1 p.Arg669Met Uncertain significance Single submitter
- IARS1 p.Arg722His Uncertain significance Single submitter
- IARS1 p.Arg736Ser Uncertain significance Single submitter
-
IARS1 p.Arg739His
Uncertain significance
Single submitter
Inborn genetic diseases
- IARS1 p.Arg808Leu Uncertain significance Single submitter
- IARS1 p.Arg810Gln Uncertain significance Single submitter
- IARS1 p.Arg891Gln Uncertain significance Single submitter
- IARS1 p.Arg993Cys Uncertain significance Single submitter
-
IARS1 p.Asn1002Ser
Uncertain significance
Single submitter
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- IARS1 p.Asn1107Ser Uncertain significance Single submitter
-
IARS1 p.Asn1230Asp
Uncertain significance
Single submitter
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- IARS1 p.Asn421Ser Uncertain significance Single submitter
- IARS1 p.Asn683Ser Uncertain significance Single submitter
- IARS1 p.Asn886Ser Uncertain significance Single submitter
- IARS1 p.Asp504Glu Uncertain significance Single submitter
- IARS1 p.Asp550Val Uncertain significance Single submitter
- IARS1 p.Asp693Asn Uncertain significance Single submitter
- IARS1 p.Asp942Gly Uncertain significance Single submitter
- IARS1 p.Cys336Tyr Uncertain significance Single submitter
- IARS1 p.Cys350Gly Uncertain significance Single submitter
- IARS1 p.Gln154Arg Uncertain significance Single submitter
- IARS1 p.Gln824Leu Uncertain significance Single submitter
- IARS1 p.Gln826Arg Uncertain significance Single submitter
- IARS1 p.Glu1027Lys Uncertain significance Single submitter
- IARS1 p.Glu1101Gly Uncertain significance Single submitter
-
IARS1 p.Glu1231Asp
Uncertain significance
Single submitter
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- IARS1 p.Glu193Lys Uncertain significance Single submitter
- IARS1 p.Glu20Gly Uncertain significance Single submitter
- IARS1 p.Glu214Asp Uncertain significance Single submitter
- IARS1 p.Glu301Asp Uncertain significance Single submitter
- IARS1 p.Glu438Gln Uncertain significance Single submitter
- IARS1 p.Glu673Gln Uncertain significance Single submitter
- IARS1 p.Glu710Lys Uncertain significance Single submitter
- IARS1 p.Gly1019Val Uncertain significance Single submitter
- IARS1 p.Gly1105Ala Uncertain significance Single submitter
- IARS1 p.Gly170Asp Uncertain significance Single submitter
- IARS1 p.Gly446Arg Uncertain significance Single submitter
- IARS1 p.Gly531Asp Uncertain significance Single submitter
- IARS1 p.Gly560Asp Uncertain significance Single submitter
- IARS1 p.Gly566Val Uncertain significance Single submitter
- IARS1 p.Gly744Asp Uncertain significance Single submitter
-
IARS1 p.Gly76Arg
Uncertain significance
Single submitter
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- IARS1 p.Gly902Arg Uncertain significance Single submitter
- IARS1 p.Gly902Glu Uncertain significance Single submitter
- IARS1 p.His58Arg Uncertain significance Single submitter
- IARS1 p.His88Arg Uncertain significance Single submitter
- IARS1 p.His941Arg Uncertain significance Single submitter
- IARS1 p.Ile1174Val Uncertain significance Single submitter
- IARS1 p.Ile1241Val Uncertain significance Single submitter
- IARS1 p.Ile495Phe Uncertain significance Single submitter
- IARS1 p.Ile67Thr Uncertain significance Single submitter
- IARS1 p.Ile870Val Uncertain significance Single submitter
- IARS1 p.Ile871Thr Uncertain significance Single submitter
- IARS1 p.Ile916Val Uncertain significance Single submitter
- IARS1 p.Leu1211Val Uncertain significance Single submitter
- IARS1 p.Leu1220Phe Uncertain significance Single submitter
- IARS1 p.Leu1229Val Uncertain significance Single submitter
- IARS1 p.Leu255Val Uncertain significance Single submitter
- IARS1 p.Leu297Pro Uncertain significance Single submitter
- IARS1 p.Leu308Pro Uncertain significance Single submitter
- IARS1 p.Leu388Pro Uncertain significance Single submitter
- IARS1 p.Leu60Pro Uncertain significance Single submitter
- IARS1 p.Leu638Phe Uncertain significance Single submitter
- IARS1 p.Leu762Pro Uncertain significance Single submitter
- IARS1 p.Leu881Val Uncertain significance Single submitter
- IARS1 p.Leu970Ser Uncertain significance Single submitter
- IARS1 p.Lys1042Ile Uncertain significance Single submitter
- IARS1 p.Lys375Arg Uncertain significance Single submitter
- IARS1 p.Lys603Arg Uncertain significance Single submitter
- IARS1 p.Lys617Asn Uncertain significance Single submitter
- IARS1 p.Lys844Glu Uncertain significance Single submitter
- IARS1 p.Met111Ile Uncertain significance Single submitter
- IARS1 p.Met156Thr Uncertain significance Single submitter
- IARS1 p.Met242Thr Uncertain significance Single submitter
- IARS1 p.Met601Thr Uncertain significance Single submitter
- IARS1 p.Met753Val Uncertain significance Single submitter
- IARS1 p.Met805Ile Uncertain significance Single submitter
- IARS1 p.Phe568Leu Uncertain significance Single submitter
- IARS1 p.Phe662Cys Uncertain significance Single submitter
- IARS1 p.Phe83Ile Uncertain significance Single submitter
- IARS1 p.Pro1040Leu Uncertain significance Single submitter
- IARS1 p.Pro1078Ala Uncertain significance Single submitter
- IARS1 p.Pro204His Uncertain significance Single submitter
-
IARS1 p.Pro541Leu
Uncertain significance
Single submitter
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- IARS1 p.Pro631Leu Uncertain significance Single submitter
- IARS1 p.Pro655Ser Uncertain significance Single submitter
- IARS1 p.Pro790Ser Uncertain significance Single submitter
- IARS1 p.Pro807Leu Uncertain significance Single submitter
- IARS1 p.Pro846His Uncertain significance Single submitter
- IARS1 p.Ser1049Leu Uncertain significance Single submitter
- IARS1 p.Ser1120Gly Uncertain significance Single submitter
- IARS1 p.Ser264Leu Uncertain significance Single submitter
- IARS1 p.Ser35Pro Uncertain significance Single submitter
- IARS1 p.Ser458Tyr Uncertain significance Single submitter
- IARS1 p.Ser602Ile Uncertain significance Single submitter
- IARS1 p.Ser820Cys Uncertain significance Single submitter
- IARS1 p.Ser920Thr Uncertain significance Single submitter
Predictors split 56
The independent predictors disagree with each other — read with care.
-
IARS1 p.Ala222Gly
Uncertain significance
Multiple submitters
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- IARS1 p.Ala325Thr Uncertain significance Multiple submitters
- IARS1 p.Ala485Val Uncertain significance Multiple submitters
-
IARS1 p.Arg511Cys
Uncertain significance
Multiple submitters
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- IARS1 p.Arg904His Uncertain significance Multiple submitters
- IARS1 p.Arg946Cys Uncertain significance Multiple submitters
-
IARS1 p.Asn197Ser
Uncertain significance
Multiple submitters
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- IARS1 p.Gln196Arg Uncertain significance Multiple submitters
- IARS1 p.Gly492Glu Uncertain significance Multiple submitters
- IARS1 p.Ile835Thr Uncertain significance Multiple submitters
- IARS1 p.Thr1193Ile Uncertain significance Multiple submitters
- IARS1 p.Thr1238Ile Likely benign Multiple submitters
- IARS1 p.Tyr267Cys Uncertain significance Multiple submitters
- IARS1 p.Ala304Thr Uncertain significance Single submitter
- IARS1 p.Ala969Pro Uncertain significance Single submitter
- IARS1 p.Arg386Gln Uncertain significance Single submitter
- IARS1 p.Arg444Gln Uncertain significance Single submitter
-
IARS1 p.Arg453His
Conflicting
Single submitter
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- IARS1 p.Arg646Trp Uncertain significance Single submitter
- IARS1 p.Arg694Gly Uncertain significance Single submitter
- IARS1 p.Arg722Cys Uncertain significance Single submitter
- IARS1 p.Asn430Ser Uncertain significance Single submitter
- IARS1 p.Asn447Lys Uncertain significance Single submitter
- IARS1 p.Asn681Ile Uncertain significance Single submitter
- IARS1 p.Asp1110Tyr Uncertain significance Single submitter
- IARS1 p.Asp473Asn Uncertain significance Single submitter
- IARS1 p.Asp610Asn Uncertain significance Single submitter
- IARS1 p.Glu1064Lys Uncertain significance Single submitter
-
IARS1 p.Glu486Lys
Uncertain significance
Single submitter
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- IARS1 p.Glu7Lys Uncertain significance Single submitter
- IARS1 p.Glu867Lys Uncertain significance Single submitter
- IARS1 p.Gly492Arg Uncertain significance Single submitter
- IARS1 p.Gly937Arg Uncertain significance Single submitter
- IARS1 p.Ile557Thr Uncertain significance Single submitter
- IARS1 p.Ile916Phe Uncertain significance Single submitter
- IARS1 p.Ile96Thr Uncertain significance Single submitter
- IARS1 p.Ile994Met Uncertain significance Single submitter
- IARS1 p.Leu498Val Likely benign Single submitter
- IARS1 p.Lys149Arg Uncertain significance Single submitter
- IARS1 p.Lys443Glu Uncertain significance Single submitter
-
IARS1 p.Met981Ile
Uncertain significance
Single submitter
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- IARS1 p.Phe1132Leu Uncertain significance Single submitter
- IARS1 p.Phe909Leu Uncertain significance Single submitter
- IARS1 p.Pro153Ala Uncertain significance Single submitter
- IARS1 p.Pro280Leu Uncertain significance Single submitter
- IARS1 p.Pro582Leu Uncertain significance Single submitter
- IARS1 p.Thr1142Pro Uncertain significance Single submitter
- IARS1 p.Thr187Ser Uncertain significance Single submitter
- IARS1 p.Thr405Ala Uncertain significance Single submitter
- IARS1 p.Thr576Met Uncertain significance Single submitter
- IARS1 p.Thr718Ser Uncertain significance Single submitter
- IARS1 p.Tyr333Cys Uncertain significance Single submitter
- IARS1 p.Tyr434Cys Uncertain significance Single submitter
- IARS1 p.Val159Leu Uncertain significance Single submitter
- IARS1 p.Val423Met Uncertain significance Single submitter
-
IARS1 p.Ile1174Asn
Pathogenic
No assertion criteria
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
All IARS1 variants
Pathogenic 22
- p.Tyr71Ter Multiple submitters growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- p.Arg386Ter Single submitter
- p.Gln918Ter Single submitter
- p.Glu642Ter Single submitter
- p.Gly329fs Single submitter
- p.Gly52fs Single submitter
- p.Ile9fs Single submitter
- p.Leu258fs Single submitter
- p.Leu703fs Single submitter
- p.Pro211fs Single submitter growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- p.Pro348fs Single submitter
- p.Ser980Ter Single submitter
- p.Trp141Ter Single submitter
- p.Tyr734Ter Single submitter
- p.Arg254Ter No assertion criteria growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- p.Arg418Ter No assertion criteria growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- p.Arg739Cys No assertion criteria growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- p.Asn992Asp No assertion criteria growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- p.Ile1174Asn No assertion criteria growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Phe556Ser No assertion criteria growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- p.Pro437Leu No assertion criteria growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- p.Val370Gly No assertion criteria growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
Pathogenic/Likely pathogenic 3
- p.Arg461fs Multiple submitters
- p.Asn1126fs Multiple submitters growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- p.Val1154fs Multiple submitters growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
Likely pathogenic 15
- c.1700+1G>T Single submitter
- c.2137+1G>C Single submitter
- c.2430-2A>G Single submitter
- c.2533-2A>G Single submitter IARS-related disorders
- c.276+1G>A Single submitter
- c.3410-2A>G Single submitter
- c.3553+1G>A Single submitter
- c.833+1G>A Single submitter
- p.Arg838Ter Single submitter growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- p.His78fs Single submitter IARS-related disorders
- p.Pro231fs Single submitter
- p.Pro553His Single submitter growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- p.Thr1119fs Single submitter growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- p.Val1097fs Single submitter
- p.Glu193fs No assertion criteria microcephaly
Conflicting classifications of pathogenicity 6
- c.1432-5G>C Single submitter
- p.Arg453His Single submitter growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Arg686Lys Single submitter ⚠
- p.Arg808His Single submitter ⚠
- p.Ile614Val Single submitter ⚠
- p.Leu679Ile Single submitter growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
Benign 26
- p.Glu317Asp Multiple submitters
- p.Lys1182Glu Multiple submitters growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- p.Pro180= Multiple submitters
- c.119+15T>C Single submitter
- c.1305-7A>G Single submitter
- c.1788-6dup Single submitter
- c.1871+19C>T Single submitter
- c.2016+8C>T Single submitter
- c.2138-14T>G Single submitter
- c.2791+19_2791+20del Single submitter
- c.2792-3T>C Single submitter
- c.3001-17dup Single submitter
- c.3177+15C>G Single submitter
- c.396+19A>G Single submitter
- c.833+12A>G Single submitter
- p.Ala987= Single submitter
- p.Asn430= Single submitter
- p.Gln4Lys Single submitter
- p.Glu317Gly Single submitter
- p.Gly1204= Single submitter
- p.Leu439= Single submitter
- p.Ser136Asn Single submitter
- p.Ser376Gly Single submitter
- p.Tyr888= Single submitter
- p.Val1243Met Single submitter
- p.Val523= Single submitter
Benign/Likely benign 9
- c.1701-4dup Multiple submitters
- c.894+15C>T Multiple submitters
- p.Ala390= Multiple submitters
- p.Asp143= Multiple submitters
- p.Asp797Asn Multiple submitters
- p.His941= Multiple submitters
- p.Phe192= Multiple submitters
- p.Thr684Met Multiple submitters
- p.Val1046Ile Multiple submitters
Likely benign 159
- c.2617-19T>C Multiple submitters
- p.Ala493= Multiple submitters
- p.Asn302Tyr Multiple submitters
- p.Gln581= Multiple submitters
- p.Glu420= Multiple submitters
- p.Lys725= Multiple submitters
- p.Phe328= Multiple submitters
- p.Pro1242= Multiple submitters
- p.Pro541= Multiple submitters
- p.Thr1238Ile Multiple submitters ⚠
- p.Thr360= Multiple submitters
- p.Thr914Met Multiple submitters
- p.Tyr1013= Multiple submitters
- c.1113+12A>G Single submitter
- c.1114-11T>C Single submitter
- c.120-20A>G Single submitter
- c.1206-16G>A Single submitter
- c.1206-5C>T Single submitter
- c.1305-19T>C Single submitter
- c.1305-4G>T Single submitter
- c.1305-5T>G Single submitter
- c.1431+20C>T Single submitter
- c.1505+18C>G Single submitter
- c.1505+19G>A Single submitter
- c.1505+8del Single submitter
- c.1506-4T>G Single submitter
- c.1701-12G>T Single submitter
- c.1701-6T>C Single submitter
- c.1701-8T>G Single submitter
- c.1787+9A>G Single submitter
- c.1788-13T>C Single submitter
- c.1788-16C>T Single submitter
- c.1871+8C>T Single submitter
- c.1872-13del Single submitter
- c.1872-17T>A Single submitter
- c.2016+12A>G Single submitter
- c.2017-12G>T Single submitter
- c.2017-6T>C Single submitter
- c.2137+9C>T Single submitter
- c.2138-18G>A Single submitter
- c.2307+8G>A Single submitter
- c.2308-14G>A Single submitter
- c.2308-7C>T Single submitter
- c.2430-9A>C Single submitter
- c.2430-9A>G Single submitter
- c.2532+17C>A Single submitter
- c.2532+8del Single submitter
- c.2616+7T>C Single submitter
- c.277-14T>C Single submitter
- c.277-19T>C Single submitter
- c.277-20G>T Single submitter
- c.2792-19T>C Single submitter
- c.2792-5C>T Single submitter
- c.2905-14G>C Single submitter
- c.2905-18C>T Single submitter
- c.2905-6C>T Single submitter
- c.3000+7T>A Single submitter
- c.3000+8T>C Single submitter
- c.3001-14GT[3] Single submitter
- c.3001-19T>G Single submitter
- c.3177+8C>T Single submitter
- c.3284-20T>C Single submitter
- c.3410-17GTT[2] Single submitter
- c.3553+15A>C Single submitter
- c.3706+14G>A Single submitter
- c.3706+18C>T Single submitter
- c.3706+8G>A Single submitter
- c.3707-16T>C Single submitter
- c.3707-7A>G Single submitter
- c.396+10G>A Single submitter
- c.397-15A>G Single submitter
- c.397-3A>C Single submitter
- c.479+19G>A Single submitter
- c.480-12A>G Single submitter
- c.598-20_598-16del Single submitter
- c.598-31_598-13dup Single submitter
- c.598-9T>G Single submitter
- c.745+9G>A Single submitter
- c.894+16G>A Single submitter
- c.895-7T>C Single submitter
- c.990+10A>C Single submitter
- c.991-11C>G Single submitter
- p.Ala366Thr Single submitter
- p.Ala452= Single submitter
- p.Ala754= Single submitter
- p.Ala821= Single submitter
- p.Ala959= Single submitter
- p.Ala959Thr Single submitter
- p.Arg1223= Single submitter
- p.Arg334= Single submitter
- p.Arg343Gln Single submitter
- p.Arg694= Single submitter
- p.Asn1023= Single submitter
- p.Asn666= Single submitter
- p.Asn875= Single submitter
- p.Asp1106= Single submitter
- p.Asp1240= Single submitter
- p.Asp294= Single submitter
- p.Asp525= Single submitter
- p.Asp944= Single submitter
- p.Gln165= Single submitter
- p.Gln4= Single submitter
- p.Gln960= Single submitter
- p.Glu1031Gln Single submitter
- p.Glu501= Single submitter
- p.Gly591= Single submitter
- p.Ile696Val Single submitter
- p.Ile850= Single submitter
- p.Ile9= Single submitter
- p.Leu1053= Single submitter
- p.Leu1060= Single submitter
- p.Leu1176= Single submitter
- p.Leu1211= Single submitter
- p.Leu1227= Single submitter
- p.Leu230= Single submitter
- p.Leu432= Single submitter
- p.Leu498Val Single submitter ⚠
- p.Leu506= Single submitter
- p.Leu571= Single submitter
- p.Leu574= Single submitter
- p.Leu653= Single submitter
- p.Leu755= Single submitter
- p.Leu901= Single submitter
- p.Leu905= Single submitter
- p.Leu924= Single submitter
- p.Leu947= Single submitter
- p.Lys641= Single submitter
- p.Lys864Arg Single submitter
- p.Lys929Glu Single submitter
- p.Phe365= Single submitter
- p.Phe41= Single submitter
- p.Phe49= Single submitter
- p.Phe548= Single submitter
- p.Pro240= Single submitter
- p.Pro771= Single submitter
- p.Ser1146= Single submitter
- p.Ser1158= Single submitter
- p.Ser1254= Single submitter
- p.Ser264Pro Single submitter
- p.Ser472= Single submitter
- p.Thr1035= Single submitter
- p.Thr1068= Single submitter
- p.Thr1234= Single submitter
- p.Thr183= Single submitter
- p.Thr359= Single submitter
- p.Thr392= Single submitter
- p.Thr576= Single submitter
- p.Thr684= Single submitter
- p.Thr914= Single submitter
- p.Thr950= Single submitter
- p.Tyr116= Single submitter
- p.Tyr44= Single submitter
- p.Tyr56= Single submitter
- p.Tyr608= Single submitter
- p.Tyr949= Single submitter
- p.Val724= Single submitter
- c.3410-3T>C No assertion criteria IARS1-related disorder
- c.3554-9C>G No assertion criteria IARS1-related disorder
- p.Phe524= No assertion criteria IARS1-related disorder
Uncertain significance 251
- p.Ala222Gly Multiple submitters growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Ala325Thr Multiple submitters ⚠
- p.Ala485Val Multiple submitters ⚠
- p.Ala954Gly Multiple submitters ⚠
- p.Ala954Ser Multiple submitters ⚠
- p.Arg140Gln Multiple submitters growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Arg511Cys Multiple submitters growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Arg634Lys Multiple submitters ⚠
- p.Arg661His Multiple submitters ⚠
- p.Arg694Gln Multiple submitters growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Arg808Gly Multiple submitters growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Arg904His Multiple submitters ⚠
- p.Arg946Cys Multiple submitters ⚠
- p.Arg946His Multiple submitters ⚠
- p.Asn118Asp Multiple submitters ⚠
- p.Asn197Ser Multiple submitters growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Asn690Ser Multiple submitters ⚠
- p.Cys1153Arg Multiple submitters growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Gln196Arg Multiple submitters ⚠
- p.Gln3His Multiple submitters ⚠
- p.Gln616Arg Multiple submitters ⚠
- p.Gln928Arg Multiple submitters ⚠
- p.Glu936Lys Multiple submitters growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Gly492Glu Multiple submitters ⚠
- p.Gly644Ser Multiple submitters growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Gly907Arg Multiple submitters ⚠
- p.His55Tyr Multiple submitters ⚠
- p.Ile113Phe Multiple submitters
- p.Ile18Val Multiple submitters ⚠
- p.Ile341Val Multiple submitters ⚠
- p.Ile588Thr Multiple submitters ⚠
- p.Ile729Thr Multiple submitters ⚠
- p.Ile835Thr Multiple submitters ⚠
- p.Ile850Val Multiple submitters ⚠
- p.Ile9Val Multiple submitters ⚠
- p.Leu813Phe Multiple submitters ⚠
- p.Lys110Glu Multiple submitters ⚠
- p.Met1188Thr Multiple submitters growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Met769Thr Multiple submitters ⚠
- p.Ser1116Arg Multiple submitters ⚠
- p.Ser965Pro Multiple submitters ⚠
- p.Thr1193Ile Multiple submitters ⚠
- p.Thr465Ala Multiple submitters ⚠
- p.Thr950Ile Multiple submitters ⚠
- p.Tyr267Cys Multiple submitters ⚠
- p.Tyr283Cys Multiple submitters ⚠
- p.Val1191Met Multiple submitters ⚠
- p.Val176Met Multiple submitters ⚠
- p.Val587Ile Multiple submitters ⚠
- p.Val667Ile Multiple submitters ⚠
- p.Val834Met Multiple submitters IARS1-related disorder ⚠
- c.2016+4T>C Single submitter
- c.2017-7T>G Single submitter
- c.2229+1G>A Single submitter IARS1-related disorder
- c.2229+5G>A Single submitter growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- c.276+5G>A Single submitter growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- c.2791+4G>C Single submitter
- c.3284-3T>C Single submitter
- c.3554-3C>T Single submitter
- c.3707-4C>A Single submitter
- p.Ala1079Val Single submitter ⚠
- p.Ala1089Ser Single submitter ⚠
- p.Ala1089Thr Single submitter ⚠
- p.Ala1089Val Single submitter ⚠
- p.Ala1130Gly Single submitter ⚠
- p.Ala1130Pro Single submitter ⚠
- p.Ala1214Thr Single submitter ⚠
- p.Ala304Thr Single submitter ⚠
- p.Ala908Asp Single submitter ⚠
- p.Ala908Gly Single submitter ⚠
- p.Ala969Pro Single submitter ⚠
- p.Arg1221Gln Single submitter ⚠
- p.Arg1223Lys Single submitter ⚠
- p.Arg254Gln Single submitter ⚠
- p.Arg262Gly Single submitter ⚠
- p.Arg334Gln Single submitter ⚠
- p.Arg386Gln Single submitter ⚠
- p.Arg418Gln Single submitter ⚠
- p.Arg444Gln Single submitter ⚠
- p.Arg646Trp Single submitter ⚠
- p.Arg669Met Single submitter ⚠
- p.Arg694Gly Single submitter ⚠
- p.Arg722Cys Single submitter ⚠
- p.Arg722His Single submitter ⚠
- p.Arg736Ser Single submitter ⚠
- p.Arg739His Single submitter Inborn genetic diseases ⚠
- p.Arg808Leu Single submitter ⚠
- p.Arg810Gln Single submitter ⚠
- p.Arg891Gln Single submitter ⚠
- p.Arg993Cys Single submitter ⚠
- p.Asn1002Ser Single submitter growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Asn1107Ser Single submitter ⚠
- p.Asn1230Asp Single submitter growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Asn421Ser Single submitter ⚠
- p.Asn430Ser Single submitter ⚠
- p.Asn447Lys Single submitter ⚠
- p.Asn681Ile Single submitter ⚠
- p.Asn683Ser Single submitter ⚠
- p.Asn886Ser Single submitter ⚠
- p.Asp1110Tyr Single submitter ⚠
- p.Asp473Asn Single submitter ⚠
- p.Asp504Glu Single submitter ⚠
- p.Asp550Val Single submitter ⚠
- p.Asp610Asn Single submitter ⚠
- p.Asp693Asn Single submitter ⚠
- p.Asp728Gly Single submitter
- p.Asp942Gly Single submitter ⚠
- p.Asp966Tyr Single submitter
- p.Cys336Tyr Single submitter ⚠
- p.Cys350Gly Single submitter ⚠
- p.Gln154Arg Single submitter ⚠
- p.Gln824Leu Single submitter ⚠
- p.Gln826Arg Single submitter ⚠
- p.Glu1027Lys Single submitter ⚠
- p.Glu1064Lys Single submitter ⚠
- p.Glu1101Gly Single submitter ⚠
- p.Glu1231Asp Single submitter growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Glu193Lys Single submitter ⚠
- p.Glu20Gly Single submitter ⚠
- p.Glu214Asp Single submitter ⚠
- p.Glu301Asp Single submitter ⚠
- p.Glu317del Single submitter
- p.Glu331Gly Single submitter
- p.Glu438Gln Single submitter ⚠
- p.Glu486Lys Single submitter growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Glu673Gln Single submitter ⚠
- p.Glu710Lys Single submitter ⚠
- p.Glu7Lys Single submitter ⚠
- p.Glu867Lys Single submitter ⚠
- p.Gly1019Val Single submitter ⚠
- p.Gly104Arg Single submitter
- p.Gly1105Ala Single submitter ⚠
- p.Gly170Asp Single submitter ⚠
- p.Gly446Arg Single submitter ⚠
- p.Gly482Glu Single submitter
- p.Gly492Arg Single submitter ⚠
- p.Gly531Asp Single submitter ⚠
- p.Gly560Asp Single submitter ⚠
- p.Gly566Val Single submitter ⚠
- p.Gly744Asp Single submitter ⚠
- p.Gly76Arg Single submitter growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Gly889Asp Single submitter
- p.Gly902Arg Single submitter ⚠
- p.Gly902Glu Single submitter ⚠
- p.Gly937Arg Single submitter ⚠
- p.His58Arg Single submitter ⚠
- p.His88Arg Single submitter ⚠
- p.His941Arg Single submitter ⚠
- p.Ile1087Ser Single submitter
- p.Ile1174Val Single submitter ⚠
- p.Ile1241Val Single submitter ⚠
- p.Ile495Phe Single submitter ⚠
- p.Ile557Thr Single submitter ⚠
- p.Ile67Thr Single submitter ⚠
- p.Ile870Val Single submitter ⚠
- p.Ile871Thr Single submitter ⚠
- p.Ile916Phe Single submitter ⚠
- p.Ile916Val Single submitter ⚠
- p.Ile96Thr Single submitter ⚠
- p.Ile994Met Single submitter ⚠
- p.Leu1211Val Single submitter ⚠
- p.Leu1220Phe Single submitter ⚠
- p.Leu1229Val Single submitter ⚠
- p.Leu255Val Single submitter ⚠
- p.Leu297Pro Single submitter ⚠
- p.Leu308Pro Single submitter ⚠
- p.Leu388Pro Single submitter ⚠
- p.Leu60Pro Single submitter ⚠
- p.Leu638Phe Single submitter ⚠
- p.Leu762Pro Single submitter ⚠
- p.Leu881Val Single submitter ⚠
- p.Leu970Ser Single submitter ⚠
- p.Lys1042Ile Single submitter ⚠
- p.Lys149Arg Single submitter ⚠
- p.Lys375Arg Single submitter ⚠
- p.Lys443Glu Single submitter ⚠
- p.Lys603Arg Single submitter ⚠
- p.Lys617Asn Single submitter ⚠
- p.Lys844Glu Single submitter ⚠
- p.Lys885Glu Single submitter
- p.Met111Ile Single submitter ⚠
- p.Met156Thr Single submitter ⚠
- p.Met242Thr Single submitter ⚠
- p.Met601Thr Single submitter ⚠
- p.Met753Val Single submitter ⚠
- p.Met805Ile Single submitter ⚠
- p.Met981Ile Single submitter growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Phe1132Leu Single submitter ⚠
- p.Phe568Leu Single submitter ⚠
- p.Phe662Cys Single submitter ⚠
- p.Phe83Ile Single submitter ⚠
- p.Phe909Leu Single submitter ⚠
- p.Pro1040Leu Single submitter ⚠
- p.Pro1078Ala Single submitter ⚠
- p.Pro153Ala Single submitter ⚠
- p.Pro204His Single submitter ⚠
- p.Pro280Leu Single submitter ⚠
- p.Pro541Leu Single submitter growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Pro582Leu Single submitter ⚠
- p.Pro609Thr Single submitter
- p.Pro631Leu Single submitter ⚠
- p.Pro655Ser Single submitter ⚠
- p.Pro790Ser Single submitter ⚠
- p.Pro807Leu Single submitter ⚠
- p.Pro842Ser Single submitter
- p.Pro846His Single submitter ⚠
- p.Ser1049Leu Single submitter ⚠
- p.Ser1120Gly Single submitter ⚠
- p.Ser264Leu Single submitter ⚠
- p.Ser35Pro Single submitter ⚠
- p.Ser458Tyr Single submitter ⚠
- p.Ser602Ile Single submitter ⚠
- p.Ser820Cys Single submitter ⚠
- p.Ser920Thr Single submitter ⚠
- p.Thr1030Ala Single submitter ⚠
- p.Thr1058Ile Single submitter ⚠
- p.Thr1136Ile Single submitter ⚠
- p.Thr1142Pro Single submitter ⚠
- p.Thr1259Ala Single submitter ⚠
- p.Thr187Ser Single submitter ⚠
- p.Thr360Met Single submitter ⚠
- p.Thr363Ala Single submitter ⚠
- p.Thr405Ala Single submitter ⚠
- p.Thr576Met Single submitter ⚠
- p.Thr718Ile Single submitter ⚠
- p.Thr718Ser Single submitter ⚠
- p.Thr99Lys Single submitter growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy ⚠
- p.Trp470Arg Single submitter ⚠
- p.Tyr116Cys Single submitter ⚠
- p.Tyr1173Phe Single submitter ⚠
- p.Tyr1212Cys Single submitter ⚠
- p.Tyr1212Phe Single submitter ⚠
- p.Tyr127Cys Single submitter ⚠
- p.Tyr148Cys Single submitter ⚠
- p.Tyr333Cys Single submitter ⚠
- p.Tyr369Cys Single submitter ⚠
- p.Tyr434Cys Single submitter ⚠
- p.Tyr44Cys Single submitter Inborn genetic diseases
- p.Tyr618Phe Single submitter ⚠
- p.Tyr869Phe Single submitter ⚠
- p.Val1004Ala Single submitter ⚠
- p.Val1025Ile Single submitter ⚠
- p.Val159Leu Single submitter ⚠
- p.Val162Ile Single submitter ⚠
- p.Val206Ala Single submitter
- p.Val423Met Single submitter ⚠
- p.Val538Ile Single submitter ⚠
- p.Val685Ile Single submitter ⚠
- p.Val900Ile Single submitter ⚠
- p.Asp651Glu No assertion criteria microcephaly ⚠
- p.Trp435Cys No assertion criteria IARS1-related disorder ⚠