NDC1 — 99 ClinVar variants
All ClinVar germline NDC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →
1 Likely pathogenic · 5 Likely benign · 93 Uncertain significance
Full NDC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 89
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 lean, ClinVar uncertain 77
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NDC1 p.Ala158Val Uncertain significance Single submitter
- NDC1 p.Ala174Pro Uncertain significance Single submitter
- NDC1 p.Arg617Trp Uncertain significance Single submitter
- NDC1 p.Asn187Asp Uncertain significance Single submitter
- NDC1 p.Asn190Ser Uncertain significance Single submitter
- NDC1 p.Asn361Ser Uncertain significance Single submitter
- NDC1 p.Asn371Ser Uncertain significance Single submitter
- NDC1 p.Asn531His Uncertain significance Single submitter
- NDC1 p.Asp490Gly Uncertain significance Single submitter
- NDC1 p.Asp624Asn Uncertain significance Single submitter
- NDC1 p.Cys314Tyr Uncertain significance Single submitter
- NDC1 p.Gln514Lys Uncertain significance Single submitter
- NDC1 p.Gln514Pro Uncertain significance Single submitter
- NDC1 p.Glu309Gln Uncertain significance Single submitter
- NDC1 p.Glu348Ala Uncertain significance Single submitter
- NDC1 p.Glu400Val Uncertain significance Single submitter
- NDC1 p.Glu495Asp Uncertain significance Single submitter
- NDC1 p.Gly310Arg Uncertain significance Single submitter
- NDC1 p.Gly375Ser Uncertain significance Single submitter
- NDC1 p.Gly470Arg Uncertain significance Single submitter
- NDC1 p.His117Asn Uncertain significance Single submitter
- NDC1 p.His272Tyr Uncertain significance Single submitter
- NDC1 p.His299Leu Uncertain significance Single submitter
- NDC1 p.His53Leu Uncertain significance Single submitter
- NDC1 p.Ile106Arg Uncertain significance Single submitter
- NDC1 p.Ile106Val Uncertain significance Single submitter
- NDC1 p.Ile196Met Uncertain significance Single submitter
- NDC1 p.Ile462Leu Uncertain significance Single submitter
- NDC1 p.Ile551Thr Uncertain significance Single submitter
- NDC1 p.Ile562Thr Uncertain significance Single submitter
- NDC1 p.Ile591Val Uncertain significance Single submitter
- NDC1 p.Leu103Ile Uncertain significance Single submitter
- NDC1 p.Leu105Pro Uncertain significance Single submitter
- NDC1 p.Leu170Ile Uncertain significance Single submitter
- NDC1 p.Leu210Phe Uncertain significance Single submitter
- NDC1 p.Leu352His Uncertain significance Single submitter
- NDC1 p.Leu51Phe Uncertain significance Single submitter
- NDC1 p.Leu592Phe Uncertain significance Single submitter
- NDC1 p.Lys430Glu Uncertain significance Single submitter
- NDC1 p.Lys510Glu Uncertain significance Single submitter
- NDC1 p.Met116Leu Uncertain significance Single submitter
- NDC1 p.Met124Val Uncertain significance Single submitter
- NDC1 p.Met128Ile Uncertain significance Single submitter
- NDC1 p.Met246Leu Uncertain significance Single submitter
- NDC1 p.Met420Ile Uncertain significance Single submitter
- NDC1 p.Met420Thr Uncertain significance Single submitter
- NDC1 p.Phe542Leu Uncertain significance Single submitter
- NDC1 p.Pro195Arg Uncertain significance Single submitter
- NDC1 p.Pro257Leu Uncertain significance Single submitter
- NDC1 p.Pro323Ser Uncertain significance Single submitter
- NDC1 p.Pro324Ser Uncertain significance Single submitter
- NDC1 p.Pro325Arg Uncertain significance Single submitter
- NDC1 p.Pro446Thr Uncertain significance Single submitter
- NDC1 p.Pro472Leu Uncertain significance Single submitter
- NDC1 p.Ser141Arg Uncertain significance Single submitter
- NDC1 p.Ser208Cys Uncertain significance Single submitter
- NDC1 p.Ser208Thr Uncertain significance Single submitter
- NDC1 p.Ser406Cys Uncertain significance Single submitter
- NDC1 p.Ser439Pro Uncertain significance Single submitter
- NDC1 p.Ser487Leu Uncertain significance Single submitter
- NDC1 p.Ser516Arg Uncertain significance Single submitter
-
NDC1 p.Ser569Leu
Uncertain significance
Single submitter
hereditary coproporphyria
- NDC1 p.Thr389Met Uncertain significance Single submitter
- NDC1 p.Thr40Ala Uncertain significance Single submitter
- NDC1 p.Thr586Met Uncertain significance Single submitter
- NDC1 p.Thr640Ala Uncertain significance Single submitter
-
NDC1 p.Tyr271Cys
Uncertain significance
Single submitter
hereditary coproporphyria
- NDC1 p.Tyr329His Uncertain significance Single submitter
- NDC1 p.Tyr469Cys Uncertain significance Single submitter
- NDC1 p.Tyr541Phe Uncertain significance Single submitter
- NDC1 p.Tyr92Cys Uncertain significance Single submitter
- NDC1 p.Val213Gly Uncertain significance Single submitter
- NDC1 p.Val303Ile Uncertain significance Single submitter
- NDC1 p.Val444Met Uncertain significance Single submitter
- NDC1 p.Val602Ile Uncertain significance Single submitter
- NDC1 p.Val623Glu Uncertain significance Single submitter
-
NDC1 p.Cys369Tyr
Uncertain significance
No assertion criteria
retinal disorder
Predictors split 12
The independent predictors disagree with each other — read with care.
- NDC1 p.Ala388Gly Uncertain significance Single submitter
- NDC1 p.Arg345Gln Uncertain significance Single submitter
- NDC1 p.Asp624Gly Uncertain significance Single submitter
- NDC1 p.Gly391Arg Uncertain significance Single submitter
- NDC1 p.His117Arg Uncertain significance Single submitter
- NDC1 p.His358Tyr Uncertain significance Single submitter
- NDC1 p.His570Asp Uncertain significance Single submitter
- NDC1 p.Phe307Leu Uncertain significance Single submitter
- NDC1 p.Phe43Leu Likely benign Single submitter
- NDC1 p.Ser179Arg Uncertain significance Single submitter
- NDC1 p.Thr577Ile Uncertain significance Single submitter
- NDC1 p.Trp288Arg Uncertain significance Single submitter
All NDC1 variants
Likely pathogenic 1
- c.892-21G>A Single submitter neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima
Likely benign 5
- p.Met512Val Single submitter
- p.Phe43Leu Single submitter ⚠
- p.Thr282Met Single submitter
- p.Val127Met Single submitter
- p.Val5Ala Single submitter
Uncertain significance 93
- p.Ala158Val Single submitter ⚠
- p.Ala174Pro Single submitter ⚠
- p.Ala388Gly Single submitter ⚠
- p.Ala574Thr Single submitter hereditary coproporphyria
- p.Arg345Gln Single submitter ⚠
- p.Arg617Trp Single submitter ⚠
- p.Arg644Gln Single submitter
- p.Asn187Asp Single submitter ⚠
- p.Asn190Ser Single submitter ⚠
- p.Asn361Ser Single submitter ⚠
- p.Asn371Ser Single submitter ⚠
- p.Asn531His Single submitter ⚠
- p.Asp490Gly Single submitter ⚠
- p.Asp624Asn Single submitter ⚠
- p.Asp624Gly Single submitter ⚠
- p.Cys314Tyr Single submitter ⚠
- p.Gln514Lys Single submitter ⚠
- p.Gln514Pro Single submitter ⚠
- p.Glu309Gln Single submitter ⚠
- p.Glu348Ala Single submitter ⚠
- p.Glu400Val Single submitter ⚠
- p.Glu495Asp Single submitter ⚠
- p.Glu90Gly Single submitter
- p.Gly310Arg Single submitter ⚠
- p.Gly375Ser Single submitter ⚠
- p.Gly391Arg Single submitter ⚠
- p.Gly470Arg Single submitter ⚠
- p.Gly509fs Single submitter NDC1-related disorder
- p.His117Arg Single submitter ⚠
- p.His117Asn Single submitter ⚠
- p.His272Tyr Single submitter ⚠
- p.His299Leu Single submitter ⚠
- p.His358Tyr Single submitter ⚠
- p.His53Leu Single submitter ⚠
- p.His570Asp Single submitter ⚠
- p.Ile106Arg Single submitter ⚠
- p.Ile106Val Single submitter ⚠
- p.Ile196Met Single submitter ⚠
- p.Ile462Leu Single submitter ⚠
- p.Ile551Thr Single submitter ⚠
- p.Ile562Thr Single submitter ⚠
- p.Ile591Val Single submitter ⚠
- p.Leu103Ile Single submitter ⚠
- p.Leu105Pro Single submitter ⚠
- p.Leu170Ile Single submitter ⚠
- p.Leu210Phe Single submitter ⚠
- p.Leu352His Single submitter ⚠
- p.Leu51Phe Single submitter ⚠
- p.Leu592Phe Single submitter ⚠
- p.Lys430Glu Single submitter ⚠
- p.Lys510Glu Single submitter ⚠
- p.Met116Leu Single submitter ⚠
- p.Met124Val Single submitter ⚠
- p.Met128Ile Single submitter ⚠
- p.Met246Leu Single submitter ⚠
- p.Met420Ile Single submitter ⚠
- p.Met420Thr Single submitter ⚠
- p.Phe307Leu Single submitter ⚠
- p.Phe542Leu Single submitter ⚠
- p.Pro195Arg Single submitter ⚠
- p.Pro257Leu Single submitter ⚠
- p.Pro323Ser Single submitter ⚠
- p.Pro324Ser Single submitter ⚠
- p.Pro325Arg Single submitter ⚠
- p.Pro446Thr Single submitter ⚠
- p.Pro472Leu Single submitter ⚠
- p.Pro54Leu Single submitter
- p.Ser141Arg Single submitter ⚠
- p.Ser179Arg Single submitter ⚠
- p.Ser208Cys Single submitter ⚠
- p.Ser208Thr Single submitter ⚠
- p.Ser406Cys Single submitter ⚠
- p.Ser439Pro Single submitter ⚠
- p.Ser487Leu Single submitter ⚠
- p.Ser516Arg Single submitter ⚠
- p.Ser569Leu Single submitter hereditary coproporphyria ⚠
- p.Thr389Met Single submitter ⚠
- p.Thr40Ala Single submitter ⚠
- p.Thr577Ile Single submitter ⚠
- p.Thr586Met Single submitter ⚠
- p.Thr640Ala Single submitter ⚠
- p.Trp288Arg Single submitter ⚠
- p.Tyr271Cys Single submitter hereditary coproporphyria ⚠
- p.Tyr329His Single submitter ⚠
- p.Tyr469Cys Single submitter ⚠
- p.Tyr541Phe Single submitter ⚠
- p.Tyr92Cys Single submitter ⚠
- p.Val213Gly Single submitter ⚠
- p.Val303Ile Single submitter ⚠
- p.Val444Met Single submitter ⚠
- p.Val602Ile Single submitter ⚠
- p.Val623Glu Single submitter ⚠
- p.Cys369Tyr No assertion criteria retinal disorder ⚠