ASNS — 750 ClinVar variants
All ClinVar germline ASNS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 229 flagged for review →
59 Pathogenic · 22 Pathogenic/Likely pathogenic · 64 Likely pathogenic · 22 Conflicting · 26 Benign · 6 Benign/Likely benign · 329 Likely benign · 222 Uncertain significance
Full ASNS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 229
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 5
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ASNS p.Arg33Cys
Pathogenic/Likely pathogenic
Multiple submitters
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Tyr398Cys
Pathogenic/Likely pathogenic
Multiple submitters
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Tyr398Ser
Pathogenic/Likely pathogenic
Multiple submitters
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- ASNS p.Thr475Asn Likely pathogenic Single submitter
-
ASNS p.Glu387Gly
Likely pathogenic
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Predictors agree, ClinVar conflicts 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ASNS p.Ala171Thr
Conflicting
Single submitter
Inborn genetic diseases
- ASNS p.Arg246Cys Conflicting Single submitter
-
ASNS p.Arg340His
Conflicting
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Arg404Cys
Conflicting
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Asp138Val
Conflicting
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Asp295Asn
Conflicting
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Asp531Glu
Conflicting
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- ASNS p.His205Pro Conflicting Single submitter
-
ASNS p.Met290Val
Conflicting
Single submitter
Inborn genetic diseases
-
ASNS p.Met84Leu
Conflicting
Single submitter
Inborn genetic diseases
-
ASNS p.Ser480Phe
Conflicting
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Tyr40Cys
Conflicting
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Predictors lean, ClinVar uncertain 121
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASNS p.Ala171Val Uncertain significance Multiple submitters
-
ASNS p.Ala303Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Ala31Ser
Uncertain significance
Multiple submitters
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Ala341Thr
Uncertain significance
Multiple submitters
ASNS-related disorder
-
ASNS p.Arg251Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Arg27Thr
Uncertain significance
Multiple submitters
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Arg49Trp
Uncertain significance
Multiple submitters
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Arg519Cys
Uncertain significance
Multiple submitters
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Asn543Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Asn75Ile
Uncertain significance
Multiple submitters
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Cys207Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Glu389Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ASNS p.Gly373Val Uncertain significance Multiple submitters
- ASNS p.Ile253Ser Uncertain significance Multiple submitters
-
ASNS p.Leu430Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Lys176Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Phe146Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Phe174Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Pro211Ser
Uncertain significance
Multiple submitters
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Pro539Leu
Uncertain significance
Multiple submitters
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Pro55Leu
Uncertain significance
Multiple submitters
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Pro68Leu
Uncertain significance
Multiple submitters
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- ASNS p.Ser293Arg Uncertain significance Multiple submitters
-
ASNS p.Thr371Met
Uncertain significance
Multiple submitters
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Trp71Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Val165Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Ala171Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Ala214Thr Uncertain significance Single submitter
-
ASNS p.Ala299Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Ala299Val Uncertain significance Single submitter
- ASNS p.Ala380Pro Uncertain significance Single submitter
- ASNS p.Ala544Thr Uncertain significance Single submitter
-
ASNS p.Arg137Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Arg208Gln Uncertain significance Single submitter
- ASNS p.Arg246His Uncertain significance Single submitter
- ASNS p.Arg27Gly Uncertain significance Single submitter
- ASNS p.Arg33Pro Uncertain significance Single submitter
- ASNS p.Arg407Gln Uncertain significance Single submitter
- ASNS p.Arg465Gln Uncertain significance Single submitter
- ASNS p.Arg529Gln Uncertain significance Single submitter
- ASNS p.Arg63Gln Uncertain significance Single submitter
- ASNS p.Asn130Ser Uncertain significance Single submitter
- ASNS p.Asn241Asp Uncertain significance Single submitter
- ASNS p.Asp118Asn Uncertain significance Single submitter
-
ASNS p.Asp118Gly
Uncertain significance
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- ASNS p.Asp138Glu Uncertain significance Single submitter
- ASNS p.Asp217Glu Uncertain significance Single submitter
- ASNS p.Asp422Glu Uncertain significance Single submitter
- ASNS p.Asp531Gly Uncertain significance Single submitter
- ASNS p.Cys2Trp Uncertain significance Single submitter
- ASNS p.Gln372Arg Uncertain significance Single submitter
- ASNS p.Gln86Glu Uncertain significance Single submitter
-
ASNS p.Glu309Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Glu369Asp Uncertain significance Single submitter
- ASNS p.Glu450Gln Uncertain significance Single submitter
- ASNS p.Glu89Ala Uncertain significance Single submitter
- ASNS p.Gly119Ala Uncertain significance Single submitter
- ASNS p.Gly136Asp Uncertain significance Single submitter
- ASNS p.Gly141Ala Uncertain significance Single submitter
- ASNS p.Gly194Asp Uncertain significance Single submitter
- ASNS p.Gly254Val Uncertain significance Single submitter
- ASNS p.Gly260Asp Uncertain significance Single submitter
-
ASNS p.Gly260Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Gly320Cys Uncertain significance Single submitter
-
ASNS p.Gly344Val
Uncertain significance
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Gly366Glu
Uncertain significance
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Gly3Ser
Uncertain significance
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- ASNS p.His103Pro Uncertain significance Single submitter
- ASNS p.His378Tyr Uncertain significance Single submitter
- ASNS p.His446Tyr Uncertain significance Single submitter
- ASNS p.His491Arg Uncertain significance Single submitter
-
ASNS p.His81Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASNS p.His87Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Ile375Leu Uncertain significance Single submitter
-
ASNS p.Ile484Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Ile484Val Uncertain significance Single submitter
-
ASNS p.Leu167Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Leu403Phe Uncertain significance Single submitter
- ASNS p.Leu430Ser Uncertain significance Single submitter
- ASNS p.Lys107Arg Uncertain significance Single submitter
-
ASNS p.Lys162Glu
Uncertain significance
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Lys350Arg
Uncertain significance
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- ASNS p.Lys467Ile Uncertain significance Single submitter
- ASNS p.Lys82Glu Uncertain significance Single submitter
- ASNS p.Lys83Arg Uncertain significance Single submitter
- ASNS p.Met116Thr Uncertain significance Single submitter
- ASNS p.Met149Val Uncertain significance Single submitter
-
ASNS p.Met201Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Met22Val Uncertain significance Single submitter
- ASNS p.Met497Ile Uncertain significance Single submitter
- ASNS p.Met497Thr Uncertain significance Single submitter
- ASNS p.Met84Val Uncertain significance Single submitter
- ASNS p.Phe123Ser Uncertain significance Single submitter
- ASNS p.Phe146Leu Uncertain significance Single submitter
- ASNS p.Phe223Leu Uncertain significance Single submitter
-
ASNS p.Phe32Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Phe90Ser Uncertain significance Single submitter
- ASNS p.Pro182Ser Uncertain significance Single submitter
- ASNS p.Pro211His Uncertain significance Single submitter
- ASNS p.Pro383Leu Uncertain significance Single submitter
- ASNS p.Ser264Cys Uncertain significance Single submitter
- ASNS p.Ser317Pro Uncertain significance Single submitter
- ASNS p.Ser367Thr Uncertain significance Single submitter
-
ASNS p.Ser431Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Ser471Gly Uncertain significance Single submitter
- ASNS p.Thr128Ile Uncertain significance Single submitter
- ASNS p.Thr172Ala Uncertain significance Single submitter
- ASNS p.Thr337Arg Uncertain significance Single submitter
- ASNS p.Thr551Met Uncertain significance Single submitter
- ASNS p.Trp537Gly Uncertain significance Single submitter
- ASNS p.Trp537Ser Uncertain significance Single submitter
- ASNS p.Trp541Arg Uncertain significance Single submitter
- ASNS p.Trp71Cys Uncertain significance Single submitter
-
ASNS p.Val165Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Val16Phe Uncertain significance Single submitter
-
ASNS p.Gly163Arg
Uncertain significance
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Gly259Glu
Uncertain significance
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.His554Tyr
Uncertain significance
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Met290Leu
Uncertain significance
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Trp481Ser
Uncertain significance
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Val360Leu
Uncertain significance
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Predictors split 91
The independent predictors disagree with each other — read with care.
- ASNS p.Ala277Thr Benign/Likely benign Multiple submitters
-
ASNS p.Arg208Trp
Uncertain significance
Multiple submitters
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Arg392Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Arg550His
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
ASNS p.Asn441Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Asn75Ser
Pathogenic/Likely pathogenic
Multiple submitters
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Gln503His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Glu387Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Glu435Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.His184Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.His412Arg
Uncertain significance
Multiple submitters
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Ile288Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Lys232Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Lys66Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Pro179Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Pro282Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Pro55Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Tyr216Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Val359Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASNS p.Ala129Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Ala299Ser Uncertain significance Single submitter
- ASNS p.Ala323Thr Uncertain significance Single submitter
-
ASNS p.Ala380Ser
Uncertain significance
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Ala405Thr
Conflicting
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- ASNS p.Ala501Thr Uncertain significance Single submitter
- ASNS p.Ala502Val Uncertain significance Single submitter
- ASNS p.Ala6Val Uncertain significance Single submitter
-
ASNS p.Arg353Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASNS p.Asn80Ser
Conflicting
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Asp250Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Asp325Glu Uncertain significance Single submitter
-
ASNS p.Asp546Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Glu487Gln Uncertain significance Single submitter
- ASNS p.Gly109Arg Uncertain significance Single submitter
- ASNS p.Gly109Glu Uncertain significance Single submitter
- ASNS p.Gly413Ala Uncertain significance Single submitter
- ASNS p.His169Gln Likely benign Single submitter
- ASNS p.His184Gln Uncertain significance Single submitter
- ASNS p.His81Arg Uncertain significance Single submitter
- ASNS p.His87Arg Uncertain significance Single submitter
- ASNS p.Ile110Thr Uncertain significance Single submitter
- ASNS p.Ile321Thr Uncertain significance Single submitter
- ASNS p.Ile375Val Uncertain significance Single submitter
- ASNS p.Ile4Leu Uncertain significance Single submitter
- ASNS p.Leu235Phe Uncertain significance Single submitter
- ASNS p.Leu238Ile Uncertain significance Single submitter
- ASNS p.Leu238Phe Uncertain significance Single submitter
- ASNS p.Lys272Met Uncertain significance Single submitter
- ASNS p.Lys440Asn Uncertain significance Single submitter
- ASNS p.Lys540Glu Uncertain significance Single submitter
- ASNS p.Met116Val Uncertain significance Single submitter
-
ASNS p.Met290Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASNS p.Met345Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASNS p.Met538Ile
Conflicting
Single submitter
Inborn genetic diseases
-
ASNS p.Pro224Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Pro381Leu Uncertain significance Single submitter
-
ASNS p.Pro55Gln
Likely benign
Single submitter
Inborn genetic diseases
-
ASNS p.Ser10Asn
Uncertain significance
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- ASNS p.Ser20Arg Likely pathogenic Single submitter
- ASNS p.Ser358Arg Uncertain significance Single submitter
- ASNS p.Ser427Pro Likely pathogenic Single submitter
-
ASNS p.Ser455Phe
Conflicting
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Thr139Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASNS p.Thr269Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASNS p.Thr338Ser
Uncertain significance
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- ASNS p.Thr356Ala Uncertain significance Single submitter
- ASNS p.Thr408Ile Uncertain significance Single submitter
-
ASNS p.Thr451Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASNS p.Thr475Ile
Conflicting
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- ASNS p.Thr512Asn Uncertain significance Single submitter
- ASNS p.Tyr140Cys Uncertain significance Single submitter
- ASNS p.Tyr185Asp Uncertain significance Single submitter
- ASNS p.Tyr204His Uncertain significance Single submitter
- ASNS p.Tyr428Cys Conflicting Single submitter
-
ASNS p.Val177Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ASNS p.Val199Ala Uncertain significance Single submitter
- ASNS p.Val199Met Uncertain significance Single submitter
-
ASNS p.Val489Ile
Conflicting
Single submitter
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- ASNS p.Val489Phe Uncertain significance Single submitter
- ASNS p.Val521Gly Uncertain significance Single submitter
-
ASNS p.Arg524Ser
Uncertain significance
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Asp209Asn
Uncertain significance
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Gln85Leu
Uncertain significance
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Glu389Gln
Likely pathogenic
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Gly108Arg
Uncertain significance
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.His26Pro
Uncertain significance
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Leu164Phe
Uncertain significance
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Pro192Ala
Uncertain significance
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Ser427Cys
Uncertain significance
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Thr409Ile
Uncertain significance
No assertion criteria
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
-
ASNS p.Thr451Arg
Likely pathogenic
No assertion criteria
Abnormal cerebral morphology
All ASNS variants
Pathogenic 59
- c.1476+1G>A Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Arg550Cys Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Trp537Ter Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Tyr429fs Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Ala197fs Single submitter
- p.Ala287fs Single submitter
- p.Ala303fs Single submitter
- p.Arg27fs Single submitter
- p.Arg395fs Single submitter
- p.Asp357fs Single submitter
- p.Asp494fs Single submitter
- p.Cys158fs Single submitter
- p.Gln284fs Single submitter
- p.Gln284Ter Single submitter
- p.Gln492fs Single submitter
- p.Gln492Ter Single submitter
- p.Gln60fs Single submitter
- p.Gln86Ter Single submitter
- p.Glu200Ter Single submitter
- p.Glu332fs Single submitter
- p.Glu487_Tyr488insAlaGlyArgGlyGlySerArgLeuTer Single submitter
- p.Gly442_Ile443insTer Single submitter
- p.Ile228fs Single submitter
- p.Leu125fs Single submitter
- p.Leu155fs Single submitter
- p.Leu167fs Single submitter
- p.Leu190Ter Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Leu347fs Single submitter
- p.Leu394fs Single submitter
- p.Leu457fs Single submitter
- p.Leu70Ter Single submitter
- p.Lys132Ter Single submitter
- p.Lys232fs Single submitter
- p.Lys440Ter Single submitter
- p.Lys66fs Single submitter
- p.Met1Ile Single submitter
- p.Met22fs Single submitter
- p.Phe134fs Single submitter
- p.Phe174_Leu175insTer Single submitter
- p.Phe239fs Single submitter
- p.Pro224fs Single submitter
- p.Pro459fs Single submitter
- p.Pro61Leu Single submitter Neurodevelopmental delay
- p.Ser15fs Single submitter
- p.Ser367Ter Single submitter
- p.Thr150fs Single submitter
- p.Thr166fs Single submitter
- p.Thr230fs Single submitter
- p.Thr512fs Single submitter
- p.Trp532Ter Single submitter
- p.Trp541Ter Single submitter
- p.Trp71Ter Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Tyr185fs Single submitter
- p.Tyr398fs Single submitter
- p.Tyr428fs Single submitter
- p.Val231fs Single submitter
- p.Val53fs Single submitter
- c.1137+1G>A No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Met201fs No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Pathogenic/Likely pathogenic 22
- p.Arg236fs Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Arg33Cys Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Arg424Ter Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Arg465Ter Multiple submitters Inborn genetic diseases
- p.Arg49Gln Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Arg550His Multiple submitters Inborn genetic diseases ⚠
- p.Arg63Ter Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Asn456fs Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Asn75Ser Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Asp250fs Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Gln486Ter Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Gln93Ter Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Glu160fs Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Glu229Ter Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Glu389Ter Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Leu145Ter Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Leu181fs Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Lys354fs Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Met1Thr Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Phe362Val Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Tyr398Cys Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Tyr398Ser Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
Likely pathogenic 64
- c.1030+1G>A Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.1137+200_1137+205del Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.1138-1G>A Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.1239-1del Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.1239-2A>T Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.1320+1G>C Multiple submitters Inborn genetic diseases
- c.1320+1G>T Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.1476+2T>C Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.250-1G>A Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.904-3_904-1del Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Arg340Cys Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Arg404His Multiple submitters spinocerebellar ataxia, autosomal recessive 29
- p.Arg519His Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.1030+1G>T Single submitter
- c.1031-1G>A Single submitter
- c.1031-6_1041del Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.1237_1238+5del Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.1238+1G>C Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.1239-1G>T Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.1320+1G>A Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.1321-1G>A Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.487+1G>A Single submitter
- c.487+1G>T Single submitter
- c.487+2T>C Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.488-1G>C Single submitter
- c.673+1G>A Single submitter
- c.673+2T>A Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.776-2A>T Single submitter
- c.776-2del Single submitter
- c.903+2T>G Single submitter
- c.904-1G>A Single submitter
- p.Arg252fs Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Arg417Ter Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Arg550Leu Single submitter
- p.Asn233fs Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Asp138Ala Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Asp30fs Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Gln280Ter Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Gln322fs Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Gln86fs Single submitter
- p.Glu186Ter Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.His525fs Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Leu393fs Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Met1Val Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Phe377fs Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Pro68Thr Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Ser20Arg Single submitter ⚠
- p.Ser427Pro Single submitter ⚠
- p.Thr475Asn Single submitter ⚠
- p.Trp481Ter Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Tyr105Ter Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Tyr516Ter Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Tyr526Ter Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Tyr67Ter Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Tyr79fs Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Val199fs Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.1321-1G>C No assertion criteria Abnormal cerebral morphology
- p.Glu387Gly No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Glu389Gln No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Lys162Asn No assertion criteria Abnormal cerebral morphology
- p.Phe47Val No assertion criteria
- p.Ser349fs No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Thr451Arg No assertion criteria Abnormal cerebral morphology ⚠
- p.Tyr517Ter No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Conflicting classifications of pathogenicity 22
- c.1138-8T>C Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Ala171Thr Single submitter Inborn genetic diseases ⚠
- p.Ala405Thr Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Arg246Cys Single submitter ⚠
- p.Arg340His Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Arg404Cys Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Arg407Ter Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Asn80Ser Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Asp138Val Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Asp295Asn Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Asp531Glu Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.His205Pro Single submitter ⚠
- p.Met290Val Single submitter Inborn genetic diseases ⚠
- p.Met538Ile Single submitter Inborn genetic diseases ⚠
- p.Met84Leu Single submitter Inborn genetic diseases ⚠
- p.Ser455Phe Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Ser480Phe Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Thr475Ile Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Tyr428Cys Single submitter ⚠
- p.Tyr488= Single submitter
- p.Val489Ile Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Tyr40Cys No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
Benign 26
- c.1137+187T>A Multiple submitters
- c.1238+52A>G Multiple submitters
- c.1477-146T>C Multiple submitters
- c.1477-32G>A Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.487+134T>A Multiple submitters
- c.487+231T>C Multiple submitters
- c.488-23A>G Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.488-80T>C Multiple submitters
- c.674-83T>C Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.775+13dup Multiple submitters
- c.904-85A>G Multiple submitters
- c.-23-44T>C Multiple submitters
- c.*80A>C Multiple submitters
- p.Ala6= Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Leu403= Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Val210Glu Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.1138-14del Single submitter
- c.1138-296del Single submitter
- c.1138-313dup Single submitter
- c.1238+289A>G Single submitter
- c.1476+165C>T Single submitter
- c.775+195A>G Single submitter
- c.775+19del Single submitter
- c.776-9del Single submitter
- c.903+244T>C Single submitter
- c.-23-149G>A Single submitter
Benign/Likely benign 6
- c.1238+142G>C Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- c.1239-11dup Multiple submitters
- p.Ala277Thr Multiple submitters ⚠
- p.Arg529= Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Glu388= Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Val96= Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Likely benign 329
Showing the top 300 by review status; the full set is in the sitemap.
- c.250-10G>A Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Arg404= Multiple submitters
- p.Asn218= Multiple submitters
- p.Thr371= Multiple submitters
- c.1030+11A>G Single submitter
- c.1030+12T>C Single submitter
- c.1030+13_1030+15del Single submitter
- c.1030+16A>C Single submitter
- c.1030+16A>G Single submitter
- c.1030+17T>G Single submitter
- c.1030+199G>A Single submitter
- c.1030+321A>G Single submitter
- c.1030+9T>C Single submitter
- c.1031-10C>T Single submitter
- c.1031-12C>T Single submitter
- c.1031-16C>A Single submitter
- c.1031-16C>T Single submitter
- c.1031-17T>G Single submitter
- c.1031-20A>G Single submitter
- c.1031-25_1031-20del Single submitter
- c.1031-8C>T Single submitter
- c.1031-9T>C Single submitter
- c.1137+15G>A Single submitter
- c.1137+219A>G Single submitter
- c.1137+7A>C Single submitter
- c.1137+8C>T Single submitter
- c.1138-10T>C Single submitter
- c.1138-15T>C Single submitter
- c.1138-321C>T Single submitter
- c.1238+15G>A Single submitter
- c.1238+16G>A Single submitter
- c.1238+19A>G Single submitter
- c.1238+20T>C Single submitter
- c.1238+220G>A Single submitter
- c.1239-15_1239-13del Single submitter
- c.1239-15C>A Single submitter
- c.1239-15C>G Single submitter
- c.1239-16T>C Single submitter
- c.1239-16T>G Single submitter
- c.1239-17T>G Single submitter
- c.1239-18C>G Single submitter
- c.1239-4_1239-3insTG Single submitter
- c.1239-7C>A Single submitter
- c.1239-7C>T Single submitter
- c.1239-8C>G Single submitter
- c.1320+10T>C Single submitter
- c.1320+13A>T Single submitter
- c.1320+19G>C Single submitter
- c.1320+20G>A Single submitter
- c.1320+8A>T Single submitter
- c.1321-10G>A Single submitter
- c.1321-13T>C Single submitter
- c.1321-14T>C Single submitter
- c.1321-15_1321-11del Single submitter
- c.1321-16T>G Single submitter
- c.1321-19C>T Single submitter
- c.1321-4T>C Single submitter
- c.1321-5G>A Single submitter
- c.1321-5G>C Single submitter
- c.1321-5G>T Single submitter
- c.1321-7_1321-6del Single submitter
- c.1321-7A>G Single submitter
- c.1321-8C>A Single submitter
- c.1321-8C>T Single submitter
- c.1476+14A>G Single submitter
- c.1476+251A>G Single submitter
- c.1477-11del Single submitter
- c.1477-12T>A Single submitter
- c.1477-12T>G Single submitter
- c.1477-13C>T Single submitter
- c.1477-16A>G Single submitter
- c.1477-17T>C Single submitter
- c.1477-18A>C Single submitter
- c.1477-19T>C Single submitter
- c.1477-6T>G Single submitter
- c.1477-7C>G Single submitter
- c.1477-9T>C Single submitter
- c.249+11A>G Single submitter
- c.249+12G>T Single submitter
- c.249+17C>T Single submitter
- c.249+18A>G Single submitter
- c.249+5_249+9dup Single submitter
- c.249+7A>G Single submitter
- c.250-10G>T Single submitter
- c.250-11C>T Single submitter
- c.250-14T>G Single submitter
- c.250-15C>T Single submitter
- c.250-19T>G Single submitter
- c.250-7T>C Single submitter
- c.487+10A>C Single submitter
- c.487+12T>A Single submitter
- c.487+195T>C Single submitter
- c.487+19A>G Single submitter
- c.487+2TAA[2] Single submitter
- c.487+8T>G Single submitter
- c.488-128T>C Single submitter
- c.488-143A>T Single submitter
- c.488-18_488-17insAACCTATTTTGA Single submitter
- c.488-309G>C Single submitter
- c.488-6T>C Single submitter
- c.673+11C>T Single submitter
- c.673+14A>G Single submitter
- c.673+16C>T Single submitter
- c.673+19C>G Single submitter
- c.673+19C>T Single submitter
- c.673+20C>T Single submitter
- c.673+7G>A Single submitter
- c.673+9del Single submitter
- c.674-10G>A Single submitter
- c.674-11T>C Single submitter
- c.674-12C>T Single submitter
- c.674-15C>G Single submitter
- c.674-16A>G Single submitter
- c.674-25G>A Single submitter
- c.674-4A>T Single submitter
- c.674-8G>A Single submitter
- c.775+12dup Single submitter
- c.775+13A>T Single submitter
- c.775+17_775+19del Single submitter
- c.775+17_775+19dup Single submitter
- c.775+20C>A Single submitter
- c.776-10T>G Single submitter
- c.776-11T>C Single submitter
- c.776-15C>T Single submitter
- c.776-16C>G Single submitter
- c.776-19C>A Single submitter
- c.776-20A>G Single submitter
- c.776-5T>C Single submitter
- c.776-9T>C Single submitter
- c.903+10T>C Single submitter
- c.903+115T>A Single submitter
- c.903+11dup Single submitter
- c.903+13C>G Single submitter
- c.903+149G>A Single submitter
- c.903+15_903+16del Single submitter
- c.903+20C>T Single submitter
- c.903+7T>G Single submitter
- c.904-17T>C Single submitter
- c.904-18A>G Single submitter
- c.904-20G>A Single submitter
- c.904-20G>C Single submitter
- c.904-20G>T Single submitter
- c.904-326G>A Single submitter
- c.904-4T>A Single submitter
- c.904-6A>C Single submitter
- c.-23-297G>A Single submitter
- p.Ala122= Single submitter
- p.Ala156= Single submitter
- p.Ala171= Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Ala197= Single submitter
- p.Ala214= Single submitter
- p.Ala242= Single submitter
- p.Ala268= Single submitter
- p.Ala277= Single submitter
- p.Ala287= Single submitter
- p.Ala298= Single submitter
- p.Ala380= Single submitter
- p.Ala411= Single submitter
- p.Ala469= Single submitter
- p.Ala496= Single submitter
- p.Ala501= Single submitter
- p.Ala502= Single submitter
- p.Ala51= Single submitter
- p.Ala544= Single submitter
- p.Ala558= Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Arg208= Single submitter
- p.Arg236= Single submitter
- p.Arg251= Single submitter
- p.Arg417= Single submitter
- p.Arg424= Single submitter
- p.Arg49= Single submitter
- p.Arg519= Single submitter
- p.Asn193= Single submitter
- p.Asn233= Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Asn316= Single submitter
- p.Asn36= Single submitter
- p.Asn42= Single submitter
- p.Asp106= Single submitter
- p.Asp11= Single submitter
- p.Asp12= Single submitter
- p.Asp127= Single submitter
- p.Asp189= Single submitter
- p.Asp262= Single submitter
- p.Asp292= Single submitter
- p.Asp30= Single submitter
- p.Asp335= Single submitter
- p.Asp472= Single submitter
- p.Asp494= Single submitter
- p.Asp54= Single submitter
- p.Asp97= Single submitter
- p.Cys158= Single submitter
- p.Gln280= Single submitter
- p.Gln322= Single submitter
- p.Gln520= Single submitter
- p.Gln85= Single submitter
- p.Gln85Glu Single submitter Inborn genetic diseases
- p.Gln86= Single submitter
- p.Glu151= Single submitter
- p.Glu178= Single submitter
- p.Glu291= Single submitter
- p.Glu309= Single submitter
- p.Glu318= Single submitter
- p.Glu326= Single submitter
- p.Glu35= Single submitter
- p.Glu365= Single submitter
- p.Glu514= Single submitter
- p.Glu89= Single submitter
- p.Gly119= Single submitter
- p.Gly136= Single submitter
- p.Gly153= Single submitter
- p.Gly194= Single submitter
- p.Gly259= Single submitter
- p.Gly28= Single submitter
- p.Gly289= Single submitter
- p.Gly413= Single submitter Inborn genetic diseases
- p.Gly442= Single submitter
- p.Gly473= Single submitter
- p.Gly58= Single submitter
- p.Gly76= Single submitter
- p.Gly9= Single submitter
- p.His103= Single submitter
- p.His169= Single submitter
- p.His169Gln Single submitter ⚠
- p.His206= Single submitter
- p.His213= Single submitter
- p.His378= Single submitter
- p.His535= Single submitter
- p.His81= Single submitter
- p.His87= Single submitter
- p.Ile100= Single submitter
- p.Ile114= Single submitter
- p.Ile321= Single submitter
- p.Ile361= Single submitter
- p.Ile462= Single submitter
- p.Ile542= Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Leu135= Single submitter
- p.Leu155= Single submitter
- p.Leu164= Single submitter
- p.Leu167= Single submitter
- p.Leu238= Single submitter
- p.Leu265= Single submitter
- p.Leu270= Single submitter
- p.Leu283= Single submitter
- p.Leu331= Single submitter
- p.Leu394= Single submitter
- p.Leu397= Single submitter
- p.Leu399= Single submitter
- p.Leu416= Single submitter
- p.Leu421= Single submitter
- p.Leu430= Single submitter
- p.Leu432= Single submitter
- p.Leu448= Single submitter
- p.Leu50= Single submitter
- p.Leu70= Single submitter
- p.Leu72= Single submitter
- p.Lys131= Single submitter
- p.Lys221= Single submitter
- p.Lys272= Single submitter
- p.Lys483= Single submitter
- p.Lys556= Single submitter
- p.Lys65= Single submitter
- p.Phe121= Single submitter
- p.Phe134= Single submitter
- p.Phe223= Single submitter
- p.Phe470= Single submitter
- p.Phe8= Single submitter
- p.Phe90= Single submitter
- p.Pro173= Single submitter
- p.Pro179= Single submitter
- p.Pro182= Single submitter
- p.Pro192= Single submitter
- p.Pro211= Single submitter
- p.Pro294= Single submitter
- p.Pro419= Single submitter
- p.Pro434= Single submitter
- p.Pro510= Single submitter
- p.Pro527= Single submitter
- p.Pro55= Single submitter
- p.Pro55Gln Single submitter Inborn genetic diseases ⚠
- p.Pro68= Single submitter
- p.Ser159= Single submitter
- p.Ser170= Single submitter
- p.Ser198= Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Ser264= Single submitter
- p.Ser317= Single submitter
- p.Ser349= Single submitter
- p.Ser358= Single submitter
- p.Ser367= Single submitter
- p.Ser382= Single submitter
- p.Ser427= Single submitter
- p.Ser431= Single submitter
- p.Ser455= Single submitter
- p.Ser471= Single submitter
- p.Ser480= Single submitter
- p.Ter562= Single submitter
- p.Thr139= Single submitter
- p.Thr166= Single submitter
- p.Thr249= Single submitter
- p.Thr285= Single submitter
- p.Thr333= Single submitter
Uncertain significance 222
- c.1238+3A>G Multiple submitters Inborn genetic diseases
- c.1320+5del Multiple submitters Inborn genetic diseases
- c.673+3A>G Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Ala171Val Multiple submitters ⚠
- p.Ala303Glu Multiple submitters Inborn genetic diseases ⚠
- p.Ala31Ser Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Ala341Thr Multiple submitters ASNS-related disorder ⚠
- p.Arg208Trp Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Arg251Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg27Thr Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Arg392Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg49Trp Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Arg519Cys Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Asn441Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn543Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn75Ile Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Asn80dup Multiple submitters
- p.Cys207Phe Multiple submitters Inborn genetic diseases ⚠
- p.Gln503His Multiple submitters Inborn genetic diseases ⚠
- p.Glu387Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu389Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu435Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly373Val Multiple submitters ⚠
- p.His184Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His412Arg Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Ile253Ser Multiple submitters ⚠
- p.Ile288Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu430Trp Multiple submitters Inborn genetic diseases ⚠
- p.Lys176Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys232Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys66Arg Multiple submitters Inborn genetic diseases ⚠
- p.Phe146Ser Multiple submitters Inborn genetic diseases ⚠
- p.Phe174Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro179Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro211Ser Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Pro282Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro539Leu Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Pro55Leu Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Pro55Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro68Leu Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Ser293Arg Multiple submitters ⚠
- p.Thr371Met Multiple submitters congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Trp71Arg Multiple submitters Inborn genetic diseases ⚠
- p.Tyr216Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val165Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val359Met Multiple submitters Inborn genetic diseases ⚠
- c.1030+4A>G Single submitter
- c.1030+6G>A Single submitter Inborn genetic diseases
- c.1030+6G>C Single submitter
- c.1137+5C>A Single submitter
- c.1138-333A>T Single submitter
- c.1138-4A>G Single submitter
- c.1321-3C>T Single submitter
- c.1476+4T>A Single submitter
- c.1476+5A>G Single submitter
- c.1477-3C>T Single submitter
- c.487+3A>T Single submitter
- c.673+5C>T Single submitter
- p.Ala129Pro Single submitter Inborn genetic diseases ⚠
- p.Ala171Ser Single submitter Inborn genetic diseases ⚠
- p.Ala214Thr Single submitter ⚠
- p.Ala299Pro Single submitter Inborn genetic diseases ⚠
- p.Ala299Ser Single submitter ⚠
- p.Ala299Val Single submitter ⚠
- p.Ala323Thr Single submitter ⚠
- p.Ala380Pro Single submitter ⚠
- p.Ala380Ser Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Ala501Thr Single submitter ⚠
- p.Ala502Val Single submitter ⚠
- p.Ala544Thr Single submitter ⚠
- p.Ala6Val Single submitter ⚠
- p.Arg137Gly Single submitter Inborn genetic diseases ⚠
- p.Arg208Gln Single submitter ⚠
- p.Arg246His Single submitter ⚠
- p.Arg27Gly Single submitter ⚠
- p.Arg33Pro Single submitter ⚠
- p.Arg353Trp Single submitter Inborn genetic diseases ⚠
- p.Arg407Gln Single submitter ⚠
- p.Arg465Gln Single submitter ⚠
- p.Arg529Gln Single submitter ⚠
- p.Arg63Gln Single submitter ⚠
- p.Asn130Ser Single submitter ⚠
- p.Asn241Asp Single submitter ⚠
- p.Asp118Asn Single submitter ⚠
- p.Asp118Gly Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Asp138Glu Single submitter ⚠
- p.Asp217Glu Single submitter ⚠
- p.Asp250Asn Single submitter Inborn genetic diseases ⚠
- p.Asp325Glu Single submitter ⚠
- p.Asp422Glu Single submitter ⚠
- p.Asp531Gly Single submitter ⚠
- p.Asp546Glu Single submitter Inborn genetic diseases ⚠
- p.Cys2Trp Single submitter ⚠
- p.Gln372Arg Single submitter ⚠
- p.Gln86Glu Single submitter ⚠
- p.Glu309Lys Single submitter Inborn genetic diseases ⚠
- p.Glu369Asp Single submitter ⚠
- p.Glu450Gln Single submitter ⚠
- p.Glu487Gln Single submitter ⚠
- p.Glu89Ala Single submitter ⚠
- p.Gly109Arg Single submitter ⚠
- p.Gly109Glu Single submitter ⚠
- p.Gly119Ala Single submitter ⚠
- p.Gly136Asp Single submitter ⚠
- p.Gly141Ala Single submitter ⚠
- p.Gly194Asp Single submitter ⚠
- p.Gly254Val Single submitter ⚠
- p.Gly260Asp Single submitter ⚠
- p.Gly260Ser Single submitter Inborn genetic diseases ⚠
- p.Gly320Cys Single submitter ⚠
- p.Gly344Val Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Gly366Glu Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Gly3Ser Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Gly413Ala Single submitter ⚠
- p.His103Pro Single submitter ⚠
- p.His184Gln Single submitter ⚠
- p.His378Tyr Single submitter ⚠
- p.His446Tyr Single submitter ⚠
- p.His491Arg Single submitter ⚠
- p.His81Arg Single submitter ⚠
- p.His81Pro Single submitter Inborn genetic diseases ⚠
- p.His87Arg Single submitter ⚠
- p.His87Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile110Thr Single submitter ⚠
- p.Ile321Thr Single submitter ⚠
- p.Ile375Leu Single submitter ⚠
- p.Ile375Val Single submitter ⚠
- p.Ile484Met Single submitter Inborn genetic diseases ⚠
- p.Ile484Val Single submitter ⚠
- p.Ile4Leu Single submitter ⚠
- p.Leu167Trp Single submitter Inborn genetic diseases ⚠
- p.Leu235Phe Single submitter ⚠
- p.Leu238Ile Single submitter ⚠
- p.Leu238Phe Single submitter ⚠
- p.Leu403Phe Single submitter ⚠
- p.Leu430Ser Single submitter ⚠
- p.Lys107Arg Single submitter ⚠
- p.Lys162Glu Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Lys272Met Single submitter ⚠
- p.Lys350Arg Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Lys440Asn Single submitter ⚠
- p.Lys467Ile Single submitter ⚠
- p.Lys540Glu Single submitter ⚠
- p.Lys556Ter Single submitter
- p.Lys82Glu Single submitter ⚠
- p.Lys83Arg Single submitter ⚠
- p.Met116Thr Single submitter ⚠
- p.Met116Val Single submitter ⚠
- p.Met149Val Single submitter ⚠
- p.Met201Val Single submitter Inborn genetic diseases ⚠
- p.Met22Val Single submitter ⚠
- p.Met290Thr Single submitter Inborn genetic diseases ⚠
- p.Met345Leu Single submitter Inborn genetic diseases ⚠
- p.Met497Ile Single submitter ⚠
- p.Met497Thr Single submitter ⚠
- p.Met84Val Single submitter ⚠
- p.Phe123Ser Single submitter ⚠
- p.Phe146Leu Single submitter ⚠
- p.Phe223Leu Single submitter ⚠
- p.Phe32Ile Single submitter Inborn genetic diseases ⚠
- p.Phe90Ser Single submitter ⚠
- p.Pro182Ser Single submitter ⚠
- p.Pro211His Single submitter ⚠
- p.Pro224Ala Single submitter Inborn genetic diseases ⚠
- p.Pro381Leu Single submitter ⚠
- p.Pro383Leu Single submitter ⚠
- p.Pro510del Single submitter
- p.Ser10Asn Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Ser264Cys Single submitter ⚠
- p.Ser317Pro Single submitter ⚠
- p.Ser358Arg Single submitter ⚠
- p.Ser367Thr Single submitter ⚠
- p.Ser431Pro Single submitter Inborn genetic diseases ⚠
- p.Ser471Gly Single submitter ⚠
- p.Thr128Ile Single submitter ⚠
- p.Thr139Ile Single submitter Inborn genetic diseases ⚠
- p.Thr172Ala Single submitter ⚠
- p.Thr269Ser Single submitter Inborn genetic diseases ⚠
- p.Thr337Arg Single submitter ⚠
- p.Thr338Ser Single submitter congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Thr356Ala Single submitter ⚠
- p.Thr408Ile Single submitter ⚠
- p.Thr451Met Single submitter Inborn genetic diseases ⚠
- p.Thr512Asn Single submitter ⚠
- p.Thr551Met Single submitter ⚠
- p.Trp537Gly Single submitter ⚠
- p.Trp537Ser Single submitter ⚠
- p.Trp541Arg Single submitter ⚠
- p.Trp71Cys Single submitter ⚠
- p.Tyr140Cys Single submitter ⚠
- p.Tyr185Asp Single submitter ⚠
- p.Tyr204His Single submitter ⚠
- p.Tyr555Ter Single submitter
- p.Val165Leu Single submitter Inborn genetic diseases ⚠
- p.Val16Phe Single submitter ⚠
- p.Val177Leu Single submitter Inborn genetic diseases ⚠
- p.Val199Ala Single submitter ⚠
- p.Val199Met Single submitter ⚠
- p.Val489Phe Single submitter ⚠
- p.Val521Gly Single submitter ⚠
- c.1031-6T>C No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Arg524Ser No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Asp209Asn No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Asp495= No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Gln85Leu No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Glu389del No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Gly108Arg No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Gly163Arg No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Gly259Glu No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.His26Pro No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.His554Tyr No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Leu164Phe No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Leu463= No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Met290Leu No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Pro192Ala No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Pro383= No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Ser427Cys No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Thr409Ile No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Trp481Ser No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠
- p.Tyr185= No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Tyr555= No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- p.Val360Leu No assertion criteria congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ⚠