HSDL2 — 40 ClinVar variants
All ClinVar germline HSDL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
3 Benign · 5 Likely benign · 32 Uncertain significance
Full HSDL2 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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HSDL2 p.Ala146Val Uncertain significance Single submitter
- HSDL2 p.Ala194Pro Uncertain significance Single submitter
- HSDL2 p.Arg20His Uncertain significance Single submitter
- HSDL2 p.Arg306Cys Uncertain significance Single submitter
- HSDL2 p.Arg76Gly Uncertain significance Single submitter
- HSDL2 p.Asn100Asp Uncertain significance Single submitter
- HSDL2 p.Asp271Ala Uncertain significance Single submitter
- HSDL2 p.Glu252Gly Uncertain significance Single submitter
- HSDL2 p.Gly128Asp Uncertain significance Single submitter
- HSDL2 p.Ile72Thr Uncertain significance Single submitter
- HSDL2 p.Leu299Val Uncertain significance Single submitter
- HSDL2 p.Lys142Thr Uncertain significance Single submitter
- HSDL2 p.Pro154Arg Uncertain significance Single submitter
- HSDL2 p.Pro197Leu Uncertain significance Single submitter
- HSDL2 p.Ser322Thr Uncertain significance Single submitter
- HSDL2 p.Ser351Arg Uncertain significance Single submitter
- HSDL2 p.Ser381Ala Uncertain significance Single submitter
- HSDL2 p.Thr203Ala Uncertain significance Single submitter
- HSDL2 p.Thr344Met Uncertain significance Single submitter
- HSDL2 p.Thr344Ser Uncertain significance Single submitter
- HSDL2 p.Thr5Ser Uncertain significance Single submitter
- HSDL2 p.Trp196Leu Uncertain significance Single submitter
- HSDL2 p.Tyr333His Uncertain significance Single submitter
- HSDL2 p.Val124Met Uncertain significance Single submitter
- HSDL2 p.Val317Ala Uncertain significance Single submitter
- HSDL2 p.Val367Gly Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All HSDL2 variants
Benign 3
- c.395+8T>C Multiple submitters
- p.Lys298= Multiple submitters
- p.Lys91Ile Multiple submitters
Likely benign 5
- p.Ala83Asp Single submitter
- p.Ile332Val Single submitter
- p.Val243Ile Single submitter
- p.Val259Ile Single submitter
- p.Val285Met Single submitter
Uncertain significance 32
- p.Ala146Val Single submitter ⚠
- p.Ala194Pro Single submitter ⚠
- p.Ala25Gly Single submitter ⚠
- p.Ala84Thr Single submitter ⚠
- p.Arg20His Single submitter ⚠
- p.Arg306Cys Single submitter ⚠
- p.Arg76Gly Single submitter ⚠
- p.Asn100Asp Single submitter ⚠
- p.Asn193Ser Single submitter ⚠
- p.Asp222Gly Single submitter ⚠
- p.Asp271Ala Single submitter ⚠
- p.Glu252Gly Single submitter ⚠
- p.Gly128Asp Single submitter ⚠
- p.Ile248Thr Single submitter
- p.Ile72Thr Single submitter ⚠
- p.Leu299Val Single submitter ⚠
- p.Lys142Thr Single submitter ⚠
- p.Lys378Asn Single submitter ⚠
- p.Pro154Arg Single submitter ⚠
- p.Pro197Leu Single submitter ⚠
- p.Ser322Thr Single submitter ⚠
- p.Ser351Arg Single submitter ⚠
- p.Ser381Ala Single submitter ⚠
- p.Thr203Ala Single submitter ⚠
- p.Thr344Met Single submitter ⚠
- p.Thr344Ser Single submitter ⚠
- p.Thr5Ser Single submitter ⚠
- p.Trp196Leu Single submitter ⚠
- p.Tyr333His Single submitter ⚠
- p.Val124Met Single submitter ⚠
- p.Val317Ala Single submitter ⚠
- p.Val367Gly Single submitter ⚠