JPH1 — 93 ClinVar variants
All ClinVar germline JPH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
1 Pathogenic · 3 Likely pathogenic · 7 Benign · 9 Likely benign · 73 Uncertain significance
Full JPH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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JPH1 p.Arg399His
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease axonal type 2K
- JPH1 p.Ile404Met Uncertain significance Multiple submitters
-
JPH1 p.Ala183Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease axonal type 2K
- JPH1 p.Ala386Val Uncertain significance Single submitter
- JPH1 p.Ala397Ser Uncertain significance Single submitter
- JPH1 p.Ala492Val Uncertain significance Single submitter
- JPH1 p.Ala559Thr Uncertain significance Single submitter
- JPH1 p.Arg535Cys Uncertain significance Single submitter
- JPH1 p.Arg535His Uncertain significance Single submitter
- JPH1 p.Asn540Ile Uncertain significance Single submitter
- JPH1 p.Asn634Ser Uncertain significance Single submitter
- JPH1 p.Asp184Asn Uncertain significance Single submitter
- JPH1 p.Asp403Asn Uncertain significance Single submitter
- JPH1 p.Gln393Lys Uncertain significance Single submitter
- JPH1 p.Gln426Arg Uncertain significance Single submitter
- JPH1 p.Gln429Leu Uncertain significance Single submitter
- JPH1 p.Gln549Arg Uncertain significance Single submitter
- JPH1 p.Glu284Val Uncertain significance Single submitter
- JPH1 p.Glu613Gly Uncertain significance Single submitter
- JPH1 p.Glu632Gln Uncertain significance Single submitter
- JPH1 p.Gly126Glu Uncertain significance Single submitter
- JPH1 p.Gly209Ser Uncertain significance Single submitter
- JPH1 p.Gly315Arg Uncertain significance Single submitter
- JPH1 p.Gly524Arg Uncertain significance Single submitter
- JPH1 p.Gly524Glu Uncertain significance Single submitter
- JPH1 p.Gly552Ser Uncertain significance Single submitter
- JPH1 p.His454Asp Uncertain significance Single submitter
- JPH1 p.His88Pro Uncertain significance Single submitter
- JPH1 p.Ile538Phe Uncertain significance Single submitter
- JPH1 p.Leu176Ile Uncertain significance Single submitter
- JPH1 p.Leu494Pro Uncertain significance Single submitter
- JPH1 p.Leu614Phe Uncertain significance Single submitter
- JPH1 p.Lys512Asn Uncertain significance Single submitter
- JPH1 p.Lys517Arg Uncertain significance Single submitter
- JPH1 p.Lys610Glu Uncertain significance Single submitter
- JPH1 p.Met282Val Uncertain significance Single submitter
- JPH1 p.Met515Val Uncertain significance Single submitter
- JPH1 p.Pro158Leu Uncertain significance Single submitter
- JPH1 p.Pro443Arg Uncertain significance Single submitter
- JPH1 p.Pro463Ser Uncertain significance Single submitter
- JPH1 p.Pro480Ala Uncertain significance Single submitter
- JPH1 p.Pro513Thr Uncertain significance Single submitter
- JPH1 p.Ser226Phe Uncertain significance Single submitter
- JPH1 p.Ser233Trp Uncertain significance Single submitter
- JPH1 p.Ser299Thr Uncertain significance Single submitter
- JPH1 p.Ser41Cys Uncertain significance Single submitter
- JPH1 p.Ser473Asn Uncertain significance Single submitter
- JPH1 p.Ser533Pro Uncertain significance Single submitter
- JPH1 p.Ser578Pro Uncertain significance Single submitter
- JPH1 p.Ser622Arg Uncertain significance Single submitter
- JPH1 p.Thr256Met Uncertain significance Single submitter
- JPH1 p.Trp110Cys Uncertain significance Single submitter
- JPH1 p.Tyr94Cys Uncertain significance Single submitter
- JPH1 p.Val320Met Uncertain significance Single submitter
- JPH1 p.Val432Ala Uncertain significance Single submitter
- JPH1 p.Val432Ile Uncertain significance Single submitter
- JPH1 p.Val567Met Uncertain significance Single submitter
- JPH1 p.Ala164Val Uncertain significance No assertion criteria
Predictors split 13
The independent predictors disagree with each other — read with care.
- JPH1 p.Ala187Asp Uncertain significance Single submitter
- JPH1 p.Asn334Asp Uncertain significance Single submitter
- JPH1 p.Asp389Asn Uncertain significance Single submitter
- JPH1 p.Asp392Tyr Uncertain significance Single submitter
- JPH1 p.Asp7Asn Uncertain significance Single submitter
- JPH1 p.Gly126Ala Uncertain significance Single submitter
- JPH1 p.Gly544Arg Uncertain significance Single submitter
- JPH1 p.His658Tyr Uncertain significance Single submitter
- JPH1 p.Ser250Cys Uncertain significance Single submitter
- JPH1 p.Ser258Gly Uncertain significance Single submitter
- JPH1 p.Thr278Ala Uncertain significance Single submitter
- JPH1 p.Val74Met Uncertain significance Single submitter
- JPH1 p.Val96Ala Uncertain significance Single submitter
All JPH1 variants
Pathogenic 1
- p.Glu504fs Single submitter congenital myopathy
Likely pathogenic 3
- p.Asp125fs Single submitter congenital myopathy
- p.Leu580fs Single submitter congenital myopathy
- p.Tyr118Ter Single submitter congenital myopathy
Benign 7
- p.Ala525= Multiple submitters
- p.Lys441Arg Multiple submitters
- p.Lys610= Multiple submitters
- p.Pro103= Multiple submitters
- p.Val526Ile Multiple submitters
- p.Arg213Pro Single submitter Charcot-Marie-Tooth disease axonal type 2K
- p.Thr507Met No assertion criteria JPH1-related disorder
Likely benign 9
- c.-6C>T Single submitter
- p.Asp274= Single submitter
- p.Glu411= Single submitter
- p.Gly570= Single submitter
- p.His272= Single submitter
- p.His551= Single submitter
- p.Pro446Ser Single submitter Charcot-Marie-Tooth disease axonal type 2K
- p.Asp200= No assertion criteria JPH1-related disorder
- p.Val74= No assertion criteria JPH1-related disorder
Uncertain significance 73
- p.Arg399His Multiple submitters Charcot-Marie-Tooth disease axonal type 2K ⚠
- p.Ile404Met Multiple submitters ⚠
- p.Ala183Thr Single submitter Charcot-Marie-Tooth disease axonal type 2K ⚠
- p.Ala187Asp Single submitter ⚠
- p.Ala386Val Single submitter ⚠
- p.Ala397Ser Single submitter ⚠
- p.Ala492Val Single submitter ⚠
- p.Ala559Thr Single submitter ⚠
- p.Arg213Trp Single submitter
- p.Arg535Cys Single submitter ⚠
- p.Arg535His Single submitter ⚠
- p.Asn334Asp Single submitter ⚠
- p.Asn540Ile Single submitter ⚠
- p.Asn634Ser Single submitter ⚠
- p.Asp184Asn Single submitter ⚠
- p.Asp389Asn Single submitter ⚠
- p.Asp392Tyr Single submitter ⚠
- p.Asp403Asn Single submitter ⚠
- p.Asp7Asn Single submitter ⚠
- p.Gln393Lys Single submitter ⚠
- p.Gln426Arg Single submitter ⚠
- p.Gln429Leu Single submitter ⚠
- p.Gln549Arg Single submitter ⚠
- p.Glu284Val Single submitter ⚠
- p.Glu613Gly Single submitter ⚠
- p.Glu632Gln Single submitter ⚠
- p.Gly126Ala Single submitter ⚠
- p.Gly126Glu Single submitter ⚠
- p.Gly209Ser Single submitter ⚠
- p.Gly315Arg Single submitter ⚠
- p.Gly524Arg Single submitter ⚠
- p.Gly524Glu Single submitter ⚠
- p.Gly544Arg Single submitter ⚠
- p.Gly552Ser Single submitter ⚠
- p.His454Asp Single submitter ⚠
- p.His658Tyr Single submitter ⚠
- p.His88Pro Single submitter ⚠
- p.Ile538Phe Single submitter ⚠
- p.Leu176Ile Single submitter ⚠
- p.Leu494Pro Single submitter ⚠
- p.Leu614Phe Single submitter ⚠
- p.Lys512Asn Single submitter ⚠
- p.Lys517Arg Single submitter ⚠
- p.Lys610Glu Single submitter ⚠
- p.Met282Val Single submitter ⚠
- p.Met515Val Single submitter ⚠
- p.Pro158Leu Single submitter ⚠
- p.Pro443Arg Single submitter ⚠
- p.Pro463Ser Single submitter ⚠
- p.Pro480Ala Single submitter ⚠
- p.Pro513Thr Single submitter ⚠
- p.Ser216Tyr Single submitter
- p.Ser226Phe Single submitter ⚠
- p.Ser233Trp Single submitter ⚠
- p.Ser250Cys Single submitter ⚠
- p.Ser258Gly Single submitter ⚠
- p.Ser299Thr Single submitter ⚠
- p.Ser41Cys Single submitter ⚠
- p.Ser473Asn Single submitter ⚠
- p.Ser533Pro Single submitter ⚠
- p.Ser578Pro Single submitter ⚠
- p.Ser622Arg Single submitter ⚠
- p.Thr256Met Single submitter ⚠
- p.Thr278Ala Single submitter ⚠
- p.Trp110Cys Single submitter ⚠
- p.Tyr94Cys Single submitter ⚠
- p.Val320Met Single submitter ⚠
- p.Val432Ala Single submitter ⚠
- p.Val432Ile Single submitter ⚠
- p.Val567Met Single submitter ⚠
- p.Val74Met Single submitter ⚠
- p.Val96Ala Single submitter ⚠
- p.Ala164Val No assertion criteria ⚠