CHPT1 — 49 ClinVar variants
All ClinVar germline CHPT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
2 Benign · 1 Likely benign · 46 Uncertain significance
Full CHPT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHPT1 p.Ala210Pro Uncertain significance Single submitter
- CHPT1 p.Ala62Val Uncertain significance Single submitter
- CHPT1 p.Arg375Lys Uncertain significance Single submitter
- CHPT1 p.Asp190Tyr Uncertain significance Single submitter
- CHPT1 p.Gln339Arg Uncertain significance Single submitter
- CHPT1 p.Gln372Lys Uncertain significance Single submitter
- CHPT1 p.Glu31Gln Uncertain significance Single submitter
- CHPT1 p.Glu43Gln Uncertain significance Single submitter
- CHPT1 p.Gly70Glu Uncertain significance Single submitter
- CHPT1 p.Ile226Phe Uncertain significance Single submitter
- CHPT1 p.Ile275Leu Uncertain significance Single submitter
- CHPT1 p.Ile373Thr Uncertain significance Single submitter
- CHPT1 p.Leu269Phe Uncertain significance Single submitter
- CHPT1 p.Leu29Pro Uncertain significance Single submitter
- CHPT1 p.Pro228Ala Uncertain significance Single submitter
- CHPT1 p.Pro63Thr Uncertain significance Single submitter
- CHPT1 p.Ser137Pro Uncertain significance Single submitter
- CHPT1 p.Ser9Ala Uncertain significance Single submitter
- CHPT1 p.Thr121Lys Uncertain significance Single submitter
- CHPT1 p.Thr192Ala Uncertain significance Single submitter
- CHPT1 p.Thr384Ile Uncertain significance Single submitter
- CHPT1 p.Val39Asp Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- CHPT1 p.Phe341Leu Benign Multiple submitters
- CHPT1 p.Ala16Glu Uncertain significance Single submitter
- CHPT1 p.Ala210Val Uncertain significance Single submitter
- CHPT1 p.Ala3Val Uncertain significance Single submitter
- CHPT1 p.Arg375Gly Uncertain significance Single submitter
- CHPT1 p.Asn242Tyr Uncertain significance Single submitter
- CHPT1 p.Glu90Lys Uncertain significance Single submitter
- CHPT1 p.Gly6Val Uncertain significance Single submitter
- CHPT1 p.Ile194Asn Uncertain significance Single submitter
- CHPT1 p.Ile66Val Uncertain significance Single submitter
- CHPT1 p.Leu220Arg Uncertain significance Single submitter
- CHPT1 p.Leu265Phe Uncertain significance Single submitter
- CHPT1 p.Leu26Val Uncertain significance Single submitter
- CHPT1 p.Leu377Val Uncertain significance Single submitter
- CHPT1 p.Lys225Met Uncertain significance Single submitter
- CHPT1 p.Lys284Glu Uncertain significance Single submitter
- CHPT1 p.Met212Thr Uncertain significance Single submitter
- CHPT1 p.Phe366Leu Uncertain significance Single submitter
- CHPT1 p.Pro86Arg Uncertain significance Single submitter
- CHPT1 p.Ser367Gly Uncertain significance Single submitter
- CHPT1 p.Thr140Ala Uncertain significance Single submitter
- CHPT1 p.Thr192Asn Uncertain significance Single submitter
- CHPT1 p.Tyr49Cys Uncertain significance Single submitter
- CHPT1 p.Tyr94Cys Uncertain significance Single submitter
- CHPT1 p.Val191Ile Uncertain significance Single submitter
All CHPT1 variants
Benign 2
- p.Phe341Leu Multiple submitters ⚠
- p.Phe382= Single submitter
Likely benign 1
- p.Asn380Ser Single submitter
Uncertain significance 46
- p.Ala16Glu Single submitter ⚠
- p.Ala210Pro Single submitter ⚠
- p.Ala210Val Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Ala62Val Single submitter ⚠
- p.Arg375Gly Single submitter ⚠
- p.Arg375Lys Single submitter ⚠
- p.Asn242Tyr Single submitter ⚠
- p.Asp190Tyr Single submitter ⚠
- p.Gln339Arg Single submitter ⚠
- p.Gln372Lys Single submitter ⚠
- p.Glu31Gln Single submitter ⚠
- p.Glu43Gln Single submitter ⚠
- p.Glu90Lys Single submitter ⚠
- p.Gly6Val Single submitter ⚠
- p.Gly70Glu Single submitter ⚠
- p.Ile194Asn Single submitter ⚠
- p.Ile226Phe Single submitter ⚠
- p.Ile275Leu Single submitter ⚠
- p.Ile373Thr Single submitter ⚠
- p.Ile66Val Single submitter ⚠
- p.Leu220Arg Single submitter ⚠
- p.Leu265Phe Single submitter ⚠
- p.Leu269Phe Single submitter ⚠
- p.Leu26Val Single submitter ⚠
- p.Leu29Pro Single submitter ⚠
- p.Leu377Val Single submitter ⚠
- p.Lys225Met Single submitter ⚠
- p.Lys284Glu Single submitter ⚠
- p.Met212Thr Single submitter ⚠
- p.Phe366Leu Single submitter ⚠
- p.Pro228Ala Single submitter ⚠
- p.Pro63Thr Single submitter ⚠
- p.Pro86Arg Single submitter ⚠
- p.Ser137Pro Single submitter ⚠
- p.Ser367Gly Single submitter ⚠
- p.Ser9Ala Single submitter ⚠
- p.Thr121Lys Single submitter ⚠
- p.Thr140Ala Single submitter ⚠
- p.Thr192Ala Single submitter ⚠
- p.Thr192Asn Single submitter ⚠
- p.Thr384Ile Single submitter ⚠
- p.Tyr49Cys Single submitter ⚠
- p.Tyr94Cys Single submitter ⚠
- p.Val191Ile Single submitter ⚠
- p.Val39Asp Single submitter ⚠