KHDRBS1 — 36 ClinVar variants
All ClinVar germline KHDRBS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
1 Likely pathogenic · 35 Uncertain significance
Full KHDRBS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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KHDRBS1 p.Pro421Leu
Likely pathogenic
Single submitter
primary ovarian failure
Predictors lean, ClinVar uncertain 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KHDRBS1 p.Ala342Thr Uncertain significance Single submitter
- KHDRBS1 p.Ala376Thr Uncertain significance Single submitter
- KHDRBS1 p.Ala55Val Uncertain significance Single submitter
- KHDRBS1 p.Arg13Pro Uncertain significance Single submitter
- KHDRBS1 p.Asp415Asn Uncertain significance Single submitter
- KHDRBS1 p.Asp75His Uncertain significance Single submitter
- KHDRBS1 p.Gln37His Uncertain significance Single submitter
- KHDRBS1 p.Glu100Asp Uncertain significance Single submitter
- KHDRBS1 p.Gly351Val Uncertain significance Single submitter
- KHDRBS1 p.Gly54Val Uncertain significance Single submitter
- KHDRBS1 p.Gly80Val Uncertain significance Single submitter
- KHDRBS1 p.Pro236Leu Uncertain significance Single submitter
- KHDRBS1 p.Pro23Arg Uncertain significance Single submitter
- KHDRBS1 p.Pro278Ser Uncertain significance Single submitter
- KHDRBS1 p.Pro318Ala Uncertain significance Single submitter
- KHDRBS1 p.Pro343Ser Uncertain significance Single submitter
- KHDRBS1 p.Pro38Leu Uncertain significance Single submitter
- KHDRBS1 p.Pro39Ser Uncertain significance Single submitter
- KHDRBS1 p.Pro59Thr Uncertain significance Single submitter
- KHDRBS1 p.Pro74Ser Uncertain significance Single submitter
- KHDRBS1 p.Pro81Leu Uncertain significance Single submitter
- KHDRBS1 p.Pro99Thr Uncertain significance Single submitter
- KHDRBS1 p.Ser15Leu Uncertain significance Single submitter
- KHDRBS1 p.Ser20Pro Uncertain significance Single submitter
- KHDRBS1 p.Thr317Ile Uncertain significance Single submitter
- KHDRBS1 p.Thr330Ser Uncertain significance Single submitter
- KHDRBS1 p.Thr338Ala Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- KHDRBS1 p.Ala121Thr Uncertain significance Single submitter
- KHDRBS1 p.Arg282His Uncertain significance Single submitter
- KHDRBS1 p.Arg315His Uncertain significance Single submitter
- KHDRBS1 p.Gly316Ser Uncertain significance Single submitter
- KHDRBS1 p.Gly382Arg Uncertain significance Single submitter
- KHDRBS1 p.His438Tyr Uncertain significance Single submitter
- KHDRBS1 p.Pro105Ser Uncertain significance Single submitter
- KHDRBS1 p.Pro301His Uncertain significance Single submitter
All KHDRBS1 variants
Likely pathogenic 1
- p.Pro421Leu Single submitter primary ovarian failure ⚠
Uncertain significance 35
- p.Ala121Thr Single submitter ⚠
- p.Ala342Thr Single submitter ⚠
- p.Ala376Thr Single submitter ⚠
- p.Ala55Val Single submitter ⚠
- p.Arg13Pro Single submitter ⚠
- p.Arg282His Single submitter ⚠
- p.Arg315His Single submitter ⚠
- p.Asp415Asn Single submitter ⚠
- p.Asp75His Single submitter ⚠
- p.Gln37His Single submitter ⚠
- p.Glu100Asp Single submitter ⚠
- p.Gly316Ser Single submitter ⚠
- p.Gly351Val Single submitter ⚠
- p.Gly382Arg Single submitter ⚠
- p.Gly54Val Single submitter ⚠
- p.Gly80Val Single submitter ⚠
- p.His438Tyr Single submitter ⚠
- p.Pro105Ser Single submitter ⚠
- p.Pro236Leu Single submitter ⚠
- p.Pro23Arg Single submitter ⚠
- p.Pro278Ser Single submitter ⚠
- p.Pro301His Single submitter ⚠
- p.Pro318Ala Single submitter ⚠
- p.Pro343Ser Single submitter ⚠
- p.Pro38Leu Single submitter ⚠
- p.Pro39Ser Single submitter ⚠
- p.Pro59Thr Single submitter ⚠
- p.Pro74Ser Single submitter ⚠
- p.Pro81Leu Single submitter ⚠
- p.Pro99Thr Single submitter ⚠
- p.Ser15Leu Single submitter ⚠
- p.Ser20Pro Single submitter ⚠
- p.Thr317Ile Single submitter ⚠
- p.Thr330Ser Single submitter ⚠
- p.Thr338Ala Single submitter ⚠