KLHDC2 — 33 ClinVar variants
All ClinVar germline KLHDC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
33 Uncertain significance
Full KLHDC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KLHDC2 p.Asn384Lys Uncertain significance Single submitter
- KLHDC2 p.Asn5Asp Uncertain significance Single submitter
- KLHDC2 p.Asn72Ser Uncertain significance Single submitter
- KLHDC2 p.Asp328Asn Uncertain significance Single submitter
- KLHDC2 p.Asp7Asn Uncertain significance Single submitter
- KLHDC2 p.Asp7Tyr Uncertain significance Single submitter
- KLHDC2 p.Cys374Ser Uncertain significance Single submitter
- KLHDC2 p.Gln292His Uncertain significance Single submitter
- KLHDC2 p.His392Tyr Uncertain significance Single submitter
- KLHDC2 p.Ile135Val Uncertain significance Single submitter
- KLHDC2 p.Ile209Val Uncertain significance Single submitter
- KLHDC2 p.Ile259Val Uncertain significance Single submitter
- KLHDC2 p.Ile70Met Uncertain significance Single submitter
- KLHDC2 p.Lys79Arg Uncertain significance Single submitter
- KLHDC2 p.Phe175Ser Uncertain significance Single submitter
- KLHDC2 p.Phe310Tyr Uncertain significance Single submitter
- KLHDC2 p.Pro313Ala Uncertain significance Single submitter
- KLHDC2 p.Thr210Ile Uncertain significance Single submitter
- KLHDC2 p.Thr225Ile Uncertain significance Single submitter
- KLHDC2 p.Tyr247Cys Uncertain significance Single submitter
- KLHDC2 p.Val232Met Uncertain significance Single submitter
- KLHDC2 p.Val46Ile Uncertain significance Single submitter
- KLHDC2 p.Val87Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- KLHDC2 p.Arg124Gly Uncertain significance Single submitter
- KLHDC2 p.Arg366Trp Uncertain significance Single submitter
- KLHDC2 p.Glu31Asp Uncertain significance Single submitter
- KLHDC2 p.His109Tyr Uncertain significance Single submitter
- KLHDC2 p.Ile135Thr Uncertain significance Single submitter
- KLHDC2 p.Leu273Val Uncertain significance Single submitter
- KLHDC2 p.Thr202Ile Uncertain significance Single submitter
- KLHDC2 p.Trp383Arg Uncertain significance Single submitter
All KLHDC2 variants
Uncertain significance 33
- p.Arg124Gly Single submitter ⚠
- p.Arg366Trp Single submitter ⚠
- p.Asn384Lys Single submitter ⚠
- p.Asn5Asp Single submitter ⚠
- p.Asn72Ser Single submitter ⚠
- p.Asp328Asn Single submitter ⚠
- p.Asp40Val Single submitter
- p.Asp7Asn Single submitter ⚠
- p.Asp7Tyr Single submitter ⚠
- p.Cys374Ser Single submitter ⚠
- p.Gln292His Single submitter ⚠
- p.Glu31Asp Single submitter ⚠
- p.His109Tyr Single submitter ⚠
- p.His392Tyr Single submitter ⚠
- p.Ile135Thr Single submitter ⚠
- p.Ile135Val Single submitter ⚠
- p.Ile209Val Single submitter ⚠
- p.Ile259Val Single submitter ⚠
- p.Ile70Met Single submitter ⚠
- p.Leu273Val Single submitter ⚠
- p.Lys79Arg Single submitter ⚠
- p.Phe175Ser Single submitter ⚠
- p.Phe310Tyr Single submitter ⚠
- p.Pro313Ala Single submitter ⚠
- p.Thr202Ile Single submitter ⚠
- p.Thr210Ile Single submitter ⚠
- p.Thr225Ile Single submitter ⚠
- p.Trp253Leu Single submitter
- p.Trp383Arg Single submitter ⚠
- p.Tyr247Cys Single submitter ⚠
- p.Val232Met Single submitter ⚠
- p.Val46Ile Single submitter ⚠
- p.Val87Ile Single submitter ⚠