NARS1 — 226 ClinVar variants
All ClinVar germline NARS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 151 flagged for review →
3 Pathogenic · 2 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 5 Conflicting · 2 Benign · 25 Likely benign · 173 Uncertain significance
Full NARS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 151
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 vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
NARS1 p.Ala487Val
Likely pathogenic
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
-
NARS1 p.Thr17Met
Likely pathogenic
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NARS1 p.Asp356Ala
Conflicting
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Phe440Ser Conflicting Single submitter
-
NARS1 p.Val405Ile
Conflicting
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Predictors lean, ClinVar uncertain 107
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
NARS1 p.Ala323Thr
Uncertain significance
Multiple submitters
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
-
NARS1 p.Arg322Trp
Uncertain significance
Multiple submitters
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Arg390Gln Uncertain significance Multiple submitters
-
NARS1 p.Arg390Trp
Uncertain significance
Multiple submitters
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Arg534Gln Uncertain significance Multiple submitters
-
NARS1 p.Arg90Gln
Uncertain significance
Multiple submitters
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
-
NARS1 p.Cys342Tyr
Uncertain significance
Multiple submitters
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
- NARS1 p.His513Arg Uncertain significance Multiple submitters
-
NARS1 p.Lys60Glu
Uncertain significance
Multiple submitters
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Met34Leu Uncertain significance Multiple submitters
-
NARS1 p.Phe347Ser
Uncertain significance
Multiple submitters
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Pro384Leu Uncertain significance Multiple submitters
-
NARS1 p.Thr459Ile
Uncertain significance
Multiple submitters
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Thr525Met Uncertain significance Multiple submitters
- NARS1 p.Thr547Met Uncertain significance Multiple submitters
- NARS1 p.Ala119Val Uncertain significance Single submitter
- NARS1 p.Ala16Thr Uncertain significance Single submitter
- NARS1 p.Ala180Thr Uncertain significance Single submitter
- NARS1 p.Ala180Val Uncertain significance Single submitter
- NARS1 p.Ala194Ser Uncertain significance Single submitter
- NARS1 p.Ala211Asp Uncertain significance Single submitter
-
NARS1 p.Ala216Ser
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
-
NARS1 p.Ala216Thr
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Ala370Thr Uncertain significance Single submitter
-
NARS1 p.Ala422Thr
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
-
NARS1 p.Arg11Pro
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
-
NARS1 p.Arg138Cys
Uncertain significance
Single submitter
NARS1-related disorder
- NARS1 p.Arg150Pro Uncertain significance Single submitter
- NARS1 p.Arg322Gln Uncertain significance Single submitter
-
NARS1 p.Arg329Pro
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Arg353Gln Uncertain significance Single submitter
- NARS1 p.Arg353Pro Uncertain significance Single submitter
- NARS1 p.Arg478Pro Uncertain significance Single submitter
- NARS1 p.Arg491Thr Uncertain significance Single submitter
-
NARS1 p.Arg522Gln
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
- NARS1 p.Arg545His Uncertain significance Single submitter
- NARS1 p.Arg80Gln Uncertain significance Single submitter
- NARS1 p.Arg91Lys Uncertain significance Single submitter
- NARS1 p.Asn105Ser Uncertain significance Single submitter
-
NARS1 p.Asn221His
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
- NARS1 p.Asn221Ser Uncertain significance Single submitter
- NARS1 p.Asn241Ser Uncertain significance Single submitter
- NARS1 p.Asn352Ser Uncertain significance Single submitter
- NARS1 p.Asn380Asp Uncertain significance Single submitter
-
NARS1 p.Asn468Ile
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
- NARS1 p.Asn94Ser Uncertain significance Single submitter
- NARS1 p.Asp15Asn Uncertain significance Single submitter
- NARS1 p.Asp227His Uncertain significance Single submitter
- NARS1 p.Asp288Glu Uncertain significance Single submitter
- NARS1 p.Cys316Tyr Uncertain significance Single submitter
- NARS1 p.Gln275His Uncertain significance Single submitter
- NARS1 p.Gln319His Uncertain significance Single submitter
- NARS1 p.Glu176Asp Uncertain significance Single submitter
- NARS1 p.Glu460Val Uncertain significance Single submitter
-
NARS1 p.Glu521Gln
Uncertain significance
Single submitter
NARS1-related disorder
- NARS1 p.Glu81Ala Uncertain significance Single submitter
- NARS1 p.Gly125Asp Uncertain significance Single submitter
-
NARS1 p.Gly132Cys
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Gly152Ala Uncertain significance Single submitter
- NARS1 p.Gly18Glu Uncertain significance Single submitter
- NARS1 p.Gly209Val Uncertain significance Single submitter
-
NARS1 p.Gly215Val
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
- NARS1 p.Gly312Ala Uncertain significance Single submitter
-
NARS1 p.Gly410Arg
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
-
NARS1 p.Gly475Ser
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Gly493Arg Uncertain significance Single submitter
-
NARS1 p.Gly509Ser
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
- NARS1 p.Gly509Val Uncertain significance Single submitter
-
NARS1 p.Gly519Ser
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Ile317Leu Uncertain significance Single submitter
- NARS1 p.Ile317Met Uncertain significance Single submitter
- NARS1 p.Ile317Val Uncertain significance Single submitter
- NARS1 p.Ile435Val Uncertain significance Single submitter
- NARS1 p.Ile479Val Uncertain significance Single submitter
- NARS1 p.Ile533Val Uncertain significance Single submitter
- NARS1 p.Leu149Ser Uncertain significance Single submitter
- NARS1 p.Leu219Val Uncertain significance Single submitter
- NARS1 p.Leu296Phe Uncertain significance Single submitter
-
NARS1 p.Leu350Pro
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Leu377Pro Uncertain significance Single submitter
- NARS1 p.Leu426Pro Uncertain significance Single submitter
-
NARS1 p.Lys104Arg
Uncertain significance
Single submitter
NARS1-related disorder
- NARS1 p.Lys367Asn Uncertain significance Single submitter
- NARS1 p.Lys385Arg Uncertain significance Single submitter
- NARS1 p.Lys76Thr Uncertain significance Single submitter
- NARS1 p.Met34Lys Uncertain significance Single submitter
- NARS1 p.Met449Arg Uncertain significance Single submitter
- NARS1 p.Met69Thr Uncertain significance Single submitter
- NARS1 p.Phe523Ser Uncertain significance Single submitter
-
NARS1 p.Pro309Ser
Uncertain significance
Single submitter
NARS1-related disorder
-
NARS1 p.Ser178Arg
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Thr17Ala Uncertain significance Single submitter
- NARS1 p.Thr272Ile Uncertain significance Single submitter
-
NARS1 p.Thr297Pro
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
- NARS1 p.Thr459Ser Uncertain significance Single submitter
-
NARS1 p.Tyr289Cys
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Tyr413Cys Uncertain significance Single submitter
- NARS1 p.Tyr499His Uncertain significance Single submitter
- NARS1 p.Tyr508His Uncertain significance Single submitter
- NARS1 p.Tyr539Cys Uncertain significance Single submitter
-
NARS1 p.Val179Ile
Uncertain significance
Single submitter
NARS1-related disorder
-
NARS1 p.Val228Asp
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Val374Gly Uncertain significance Single submitter
- NARS1 p.Val442Met Uncertain significance Single submitter
- NARS1 p.Val473Met Uncertain significance Single submitter
- NARS1 p.Val536Met Uncertain significance Single submitter
-
NARS1 p.Gly183Arg
Uncertain significance
No assertion criteria
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
Predictors split 39
The independent predictors disagree with each other — read with care.
-
NARS1 p.Lys142Asn
Uncertain significance
Multiple submitters
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Lys401Thr Uncertain significance Multiple submitters
- NARS1 p.Ser79Cys Uncertain significance Multiple submitters
- NARS1 p.Ala422Pro Uncertain significance Single submitter
-
NARS1 p.Arg353Trp
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Arg364Leu Uncertain significance Single submitter
- NARS1 p.Arg386Trp Uncertain significance Single submitter
- NARS1 p.Arg439Gln Uncertain significance Single submitter
- NARS1 p.Arg451Gln Uncertain significance Single submitter
- NARS1 p.Arg457Cys Uncertain significance Single submitter
- NARS1 p.Arg54Gly Uncertain significance Single submitter
- NARS1 p.Arg80Trp Uncertain significance Single submitter
- NARS1 p.Asn169Ser Uncertain significance Single submitter
- NARS1 p.Asn231Ser Uncertain significance Single submitter
- NARS1 p.Asn392Thr Uncertain significance Single submitter
- NARS1 p.Asp288Ala Uncertain significance Single submitter
- NARS1 p.Asp348Tyr Uncertain significance Single submitter
- NARS1 p.Asp409Gly Uncertain significance Single submitter
- NARS1 p.Cys165Tyr Uncertain significance Single submitter
- NARS1 p.Gln140Lys Uncertain significance Single submitter
-
NARS1 p.Glu206Lys
Conflicting
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Glu408Gln Uncertain significance Single submitter
- NARS1 p.Gly215Ala Uncertain significance Single submitter
- NARS1 p.Gly264Arg Uncertain significance Single submitter
- NARS1 p.His198Gln Uncertain significance Single submitter
- NARS1 p.Ile66Thr Uncertain significance Single submitter
- NARS1 p.Lys247Thr Uncertain significance Single submitter
- NARS1 p.Lys31Glu Uncertain significance Single submitter
- NARS1 p.Lys406Asn Uncertain significance Single submitter
- NARS1 p.Lys82Glu Uncertain significance Single submitter
-
NARS1 p.Lys82Thr
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- NARS1 p.Met145Val Uncertain significance Single submitter
- NARS1 p.Met477Val Uncertain significance Single submitter
- NARS1 p.Phe523Leu Uncertain significance Single submitter
- NARS1 p.Pro379Leu Uncertain significance Single submitter
- NARS1 p.Ser177Asn Uncertain significance Single submitter
- NARS1 p.Thr175Met Uncertain significance Single submitter
- NARS1 p.Thr269Ile Uncertain significance Single submitter
- NARS1 p.Thr503Met Uncertain significance Single submitter
All NARS1 variants
Pathogenic 3
- p.Arg90Ter Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- p.Glu84fs No assertion criteria NARS1-related disorder
- p.Met69fs No assertion criteria neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Pathogenic/Likely pathogenic 2
- p.Arg534Ter Multiple submitters Developmental disorder
- p.Arg545Cys Multiple submitters neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Likely pathogenic 16
- p.Arg439Ter Multiple submitters neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
- c.421+1G>A Single submitter
- c.802-2A>G Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- p.Ala487Val Single submitter neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities ⚠
- p.Arg238Gln Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- p.Arg322Leu Single submitter neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
- p.Arg329Gln Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- p.Arg329Ter Single submitter
- p.Gln126Ter Single submitter neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
- p.Gln301Ter Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- p.His403Leu Single submitter neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
- p.Lys60Thr Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- p.Lys93fs Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- p.Thr17Met Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Val226Leu Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- p.Glu341fs No assertion criteria
Conflicting classifications of pathogenicity 5
- p.Arg522Ter Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- p.Asp356Ala Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Glu206Lys Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Phe440Ser Single submitter ⚠
- p.Val405Ile Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
Likely benign 25
- p.Ile397Val Multiple submitters
- p.Ala161Glu Single submitter
- p.Arg249= Single submitter
- p.Arg263= Single submitter
- p.Asn143= Single submitter
- p.Asp348= Single submitter
- p.Asp404= Single submitter
- p.Gln382Arg Single submitter
- p.Gly197= Single submitter
- p.His375Arg Single submitter
- p.His71Gln Single submitter
- p.Leu302= Single submitter
- p.Leu538= Single submitter
- p.Lys67Arg Single submitter
- p.Met251Val Single submitter
- p.Pro271= Single submitter
- p.Pro384= Single submitter
- p.Thr17= Single submitter
- p.Thr272= Single submitter
- p.Thr346= Single submitter
- p.Thr43= Single submitter
- p.Thr503= Single submitter
- p.Thr525= Single submitter
- p.Tyr508= Single submitter
- p.Val398Ile Single submitter
Uncertain significance 173
- c.342+4A>G Multiple submitters
- p.Ala323Thr Multiple submitters neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Arg322Trp Multiple submitters neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Arg390Gln Multiple submitters ⚠
- p.Arg390Trp Multiple submitters neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Arg534Gln Multiple submitters ⚠
- p.Arg90Gln Multiple submitters neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Cys342Tyr Multiple submitters neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities ⚠
- p.His513Arg Multiple submitters ⚠
- p.Lys142Asn Multiple submitters neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Lys401Thr Multiple submitters ⚠
- p.Lys60Glu Multiple submitters neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Met34Leu Multiple submitters ⚠
- p.Phe347Ser Multiple submitters neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Pro384Leu Multiple submitters ⚠
- p.Ser79Cys Multiple submitters ⚠
- p.Thr459Ile Multiple submitters neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Thr525Met Multiple submitters ⚠
- p.Thr547Met Multiple submitters ⚠
- p.Val314Ala Multiple submitters
- c.1001+2T>A Single submitter
- c.252+5G>T Single submitter
- c.342+2_342+3insTC Single submitter
- c.342+5G>C Single submitter
- c.343-1G>T Single submitter
- c.493-1G>T Single submitter neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
- c.94-2A>G Single submitter
- c.94-2A>T Single submitter
- p.Ala119Val Single submitter ⚠
- p.Ala16Thr Single submitter ⚠
- p.Ala180Thr Single submitter ⚠
- p.Ala180Val Single submitter ⚠
- p.Ala194Ser Single submitter ⚠
- p.Ala211Asp Single submitter ⚠
- p.Ala216Gly Single submitter
- p.Ala216Ser Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Ala216Thr Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Ala370Thr Single submitter ⚠
- p.Ala422Pro Single submitter ⚠
- p.Ala422Thr Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Arg11Pro Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Arg138Cys Single submitter NARS1-related disorder ⚠
- p.Arg150Pro Single submitter ⚠
- p.Arg322Gln Single submitter ⚠
- p.Arg329Pro Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Arg353Gln Single submitter ⚠
- p.Arg353Pro Single submitter ⚠
- p.Arg353Trp Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Arg364Leu Single submitter ⚠
- p.Arg386Trp Single submitter ⚠
- p.Arg439Gln Single submitter ⚠
- p.Arg451Gln Single submitter ⚠
- p.Arg451Ter Single submitter
- p.Arg457Cys Single submitter ⚠
- p.Arg478Pro Single submitter ⚠
- p.Arg491Thr Single submitter ⚠
- p.Arg522Gln Single submitter neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities ⚠
- p.Arg545His Single submitter ⚠
- p.Arg54Gly Single submitter ⚠
- p.Arg80Gln Single submitter ⚠
- p.Arg80Trp Single submitter ⚠
- p.Arg91Lys Single submitter ⚠
- p.Asn105Ser Single submitter ⚠
- p.Asn169Ser Single submitter ⚠
- p.Asn221His Single submitter neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities ⚠
- p.Asn221Ser Single submitter ⚠
- p.Asn231Ser Single submitter ⚠
- p.Asn241Ser Single submitter ⚠
- p.Asn352Ser Single submitter ⚠
- p.Asn380Asp Single submitter ⚠
- p.Asn392Thr Single submitter ⚠
- p.Asn468Ile Single submitter neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities ⚠
- p.Asn94Ser Single submitter ⚠
- p.Asp15Asn Single submitter ⚠
- p.Asp227His Single submitter ⚠
- p.Asp288Ala Single submitter ⚠
- p.Asp288Glu Single submitter ⚠
- p.Asp348Tyr Single submitter ⚠
- p.Asp409Gly Single submitter ⚠
- p.Cys165Tyr Single submitter ⚠
- p.Cys316Tyr Single submitter ⚠
- p.Gln140Lys Single submitter ⚠
- p.Gln229fs Single submitter
- p.Gln275His Single submitter ⚠
- p.Gln319His Single submitter ⚠
- p.Gln319Ter Single submitter
- p.Glu176Asp Single submitter ⚠
- p.Glu408Gln Single submitter ⚠
- p.Glu460Val Single submitter ⚠
- p.Glu521Gln Single submitter NARS1-related disorder ⚠
- p.Glu81Ala Single submitter ⚠
- p.Gly125Asp Single submitter ⚠
- p.Gly132Cys Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Gly152Ala Single submitter ⚠
- p.Gly18Glu Single submitter ⚠
- p.Gly209Val Single submitter ⚠
- p.Gly215Ala Single submitter ⚠
- p.Gly215Val Single submitter neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities ⚠
- p.Gly264Arg Single submitter ⚠
- p.Gly312Ala Single submitter ⚠
- p.Gly410Arg Single submitter neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities ⚠
- p.Gly410Glu Single submitter
- p.Gly475Ser Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Gly493Arg Single submitter ⚠
- p.Gly509Ser Single submitter neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities ⚠
- p.Gly509Val Single submitter ⚠
- p.Gly519Ser Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.His198Gln Single submitter ⚠
- p.Ile317Leu Single submitter ⚠
- p.Ile317Met Single submitter ⚠
- p.Ile317Val Single submitter ⚠
- p.Ile435Val Single submitter ⚠
- p.Ile479Val Single submitter ⚠
- p.Ile533Val Single submitter ⚠
- p.Ile66Thr Single submitter ⚠
- p.Leu149Ser Single submitter ⚠
- p.Leu219Val Single submitter ⚠
- p.Leu296Phe Single submitter ⚠
- p.Leu350Pro Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Leu377Pro Single submitter ⚠
- p.Leu426Pro Single submitter ⚠
- p.Lys104Arg Single submitter NARS1-related disorder ⚠
- p.Lys190delinsAsnGly Single submitter
- p.Lys190fs Single submitter
- p.Lys192Glu Single submitter
- p.Lys247Thr Single submitter ⚠
- p.Lys31Glu Single submitter ⚠
- p.Lys367Asn Single submitter ⚠
- p.Lys385Arg Single submitter ⚠
- p.Lys406Asn Single submitter ⚠
- p.Lys76Thr Single submitter ⚠
- p.Lys82Glu Single submitter ⚠
- p.Lys82Thr Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Met145Val Single submitter ⚠
- p.Met34Lys Single submitter ⚠
- p.Met449Arg Single submitter ⚠
- p.Met477Val Single submitter ⚠
- p.Met69Thr Single submitter ⚠
- p.Phe131fs Single submitter
- p.Phe523Leu Single submitter ⚠
- p.Phe523Ser Single submitter ⚠
- p.Pro271Arg Single submitter
- p.Pro309Ser Single submitter NARS1-related disorder ⚠
- p.Pro379Leu Single submitter ⚠
- p.Ser174Phe Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- p.Ser177Asn Single submitter ⚠
- p.Ser178Arg Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Thr175Arg Single submitter
- p.Thr175Met Single submitter ⚠
- p.Thr17Ala Single submitter ⚠
- p.Thr269Ile Single submitter ⚠
- p.Thr272Ile Single submitter ⚠
- p.Thr28Ala Single submitter
- p.Thr297Pro Single submitter neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities ⚠
- p.Thr459fs Single submitter
- p.Thr459Ser Single submitter ⚠
- p.Thr503Met Single submitter ⚠
- p.Tyr265fs Single submitter
- p.Tyr289Cys Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Tyr413Cys Single submitter ⚠
- p.Tyr499fs Single submitter
- p.Tyr499His Single submitter ⚠
- p.Tyr508His Single submitter ⚠
- p.Tyr539Cys Single submitter ⚠
- p.Val179Ile Single submitter NARS1-related disorder ⚠
- p.Val228Asp Single submitter neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ⚠
- p.Val374Gly Single submitter ⚠
- p.Val442Met Single submitter ⚠
- p.Val464Met Single submitter
- p.Val473Met Single submitter ⚠
- p.Val536Met Single submitter ⚠
- c.1251+699A>G No assertion criteria neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- p.Gly183Arg No assertion criteria neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities ⚠