CWH43 — 99 ClinVar variants

All ClinVar germline CWH43 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →

3 Benign · 5 Likely benign · 91 Uncertain significance

Full CWH43 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 93

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.

Predictors split 35

The independent predictors disagree with each other — read with care.

All CWH43 variants

Benign 3

p.Ala626Val Multiple submitters ⚠
p.Glu516Gln Multiple submitters
p.Ile78Val Multiple submitters

Likely benign 5

p.Lys696fs Multiple submitters
p.Ile306Val Single submitter
p.Ile53Val Single submitter
p.Val206Met Single submitter
p.Val285Met Single submitter ⚠

Uncertain significance 91

p.Ala190Thr Single submitter ⚠
p.Ala246Val Single submitter ⚠
p.Ala272Val Single submitter ⚠
p.Ala273Val Single submitter ⚠
p.Ala291Thr Single submitter ⚠
p.Ala345Thr Single submitter ⚠
p.Ala82Thr Single submitter ⚠
p.Ala82Val Single submitter ⚠
p.Arg122Ile Single submitter ⚠
p.Arg137Cys Single submitter ⚠
p.Arg167Leu Single submitter ⚠
p.Arg258Cys Single submitter ⚠
p.Arg498Lys Single submitter ⚠
p.Arg498Ser Single submitter ⚠
p.Asn65Lys Single submitter ⚠
p.Asn687His Single submitter ⚠
p.Asn687Lys Single submitter ⚠
p.Asn693Asp Single submitter ⚠
p.Asp604Asn Single submitter ⚠
p.Asp607His Single submitter ⚠
p.Asp609Gly Single submitter ⚠
p.Asp648Tyr Single submitter ⚠
p.Asp654His Single submitter ⚠
p.Gln107Glu Single submitter ⚠
p.Glu416Val Single submitter ⚠
p.Glu667Asp Single submitter ⚠
p.Gly172Ser Single submitter ⚠
p.Gly239Val Single submitter ⚠
p.Gly261Asp Single submitter ⚠
p.Gly342Ala Single submitter ⚠
p.Gly361Arg Single submitter ⚠
p.Gly409Arg Single submitter ⚠
p.Gly488Asp Single submitter ⚠
p.Gly598Arg Single submitter ⚠
p.Gly99Arg Single submitter ⚠
p.His23Asp Single submitter ⚠
p.His23Gln Single submitter ⚠
p.Ile127Val Single submitter ⚠
p.Ile138Val Single submitter ⚠
p.Ile462Val Single submitter ⚠
p.Ile464Val Single submitter ⚠
p.Ile577Thr Single submitter ⚠
p.Ile577Val Single submitter ⚠
p.Ile628Val Single submitter ⚠
p.Leu104Arg Single submitter ⚠
p.Leu128Ser Single submitter ⚠
p.Leu14Pro Single submitter ⚠
p.Leu21Phe Single submitter ⚠
p.Leu249Phe Single submitter ⚠
p.Leu251Phe Single submitter ⚠
p.Leu34Ser Single submitter ⚠
p.Leu385Phe Single submitter ⚠
p.Leu4Arg Single submitter ⚠
p.Leu533Met Single submitter ⚠
p.Leu91Phe Single submitter ⚠
p.Lys514Thr Single submitter ⚠
p.Lys696Glu Single submitter ⚠
p.Met189Leu Single submitter ⚠
p.Met316Ile Single submitter ⚠
p.Met357Ile Single submitter ⚠
p.Met481Thr Single submitter ⚠
p.Met69Thr Single submitter ⚠
p.Phe329Ser Single submitter ⚠
p.Phe336Leu Single submitter ⚠
p.Phe60Leu Single submitter ⚠
p.Pro27Leu Single submitter ⚠
p.Pro312Ala Single submitter ⚠
p.Pro59Arg Single submitter ⚠
p.Ser382Phe Single submitter ⚠
p.Ser389Gly Single submitter ⚠
p.Ser389Thr Single submitter ⚠
p.Ser429Thr Single submitter ⚠
p.Ser445Thr Single submitter ⚠
p.Ser51Pro Single submitter ⚠
p.Ser538Trp Single submitter ⚠
p.Ser636Leu Single submitter ⚠
p.Ser677Cys Single submitter ⚠
p.Thr355Ala Single submitter ⚠
p.Thr532Pro Single submitter ⚠
p.Trp256Gly Single submitter ⚠
p.Trp265Leu Single submitter ⚠
p.Trp61Leu Single submitter ⚠
p.Tyr140Cys Single submitter ⚠
p.Tyr344His Single submitter ⚠
p.Tyr392His Single submitter ⚠
p.Tyr581Cys Single submitter ⚠
p.Val289Phe Single submitter ⚠
p.Val513Met Single submitter ⚠
p.Val545Ile Single submitter ⚠
p.Val546Glu Single submitter ⚠
p.Val546Met Single submitter ⚠