DHRS12 — 44 ClinVar variants
All ClinVar germline DHRS12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
2 Likely benign · 42 Uncertain significance
Full DHRS12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DHRS12 p.Ala197Thr Uncertain significance Single submitter
- DHRS12 p.Ala221Val Uncertain significance Single submitter
- DHRS12 p.Ala224Thr Uncertain significance Single submitter
- DHRS12 p.Arg143Ile Uncertain significance Single submitter
- DHRS12 p.Arg202His Uncertain significance Single submitter
- DHRS12 p.Asn137Ser Uncertain significance Single submitter
- DHRS12 p.Asn76Ile Uncertain significance Single submitter
- DHRS12 p.Asp201Glu Uncertain significance Single submitter
- DHRS12 p.Gly194Arg Uncertain significance Single submitter
- DHRS12 p.His196Gln Uncertain significance Single submitter
- DHRS12 p.Leu86Val Uncertain significance Single submitter
- DHRS12 p.Phe17Ile Uncertain significance Single submitter
- DHRS12 p.Ser41Gly Uncertain significance Single submitter
- DHRS12 p.Val124Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- DHRS12 p.Ala191Glu Uncertain significance Single submitter
- DHRS12 p.Arg165Trp Likely benign Single submitter
- DHRS12 p.Arg202Cys Uncertain significance Single submitter
- DHRS12 p.Asn98Ser Uncertain significance Single submitter
- DHRS12 p.Asp147Gly Uncertain significance Single submitter
- DHRS12 p.Glu114Asp Uncertain significance Single submitter
- DHRS12 p.Glu116Asp Uncertain significance Single submitter
- DHRS12 p.Glu20Ala Uncertain significance Single submitter
- DHRS12 p.Glu27Lys Uncertain significance Single submitter
- DHRS12 p.Glu42Lys Uncertain significance Single submitter
- DHRS12 p.Leu139Arg Uncertain significance Single submitter
- DHRS12 p.Pro119Arg Uncertain significance Single submitter
- DHRS12 p.Pro171Leu Uncertain significance Single submitter
- DHRS12 p.Ser205Tyr Uncertain significance Single submitter
All DHRS12 variants
Likely benign 2
- c.559+518A>G Single submitter
- p.Arg165Trp Single submitter ⚠
Uncertain significance 42
- c.559+329G>T Single submitter
- c.559+341A>T Single submitter
- c.559+350A>G Single submitter
- c.559+352G>A Single submitter
- c.559+385C>T Single submitter
- c.559+455A>T Single submitter
- c.559+461G>C Single submitter
- c.559+559C>A Single submitter
- c.559+570A>T Single submitter
- c.559+578A>G Single submitter
- p.Ala191Glu Single submitter ⚠
- p.Ala197Thr Single submitter ⚠
- p.Ala221Val Single submitter ⚠
- p.Ala224Thr Single submitter ⚠
- p.Arg143Ile Single submitter ⚠
- p.Arg202Cys Single submitter ⚠
- p.Arg202His Single submitter ⚠
- p.Asn137Ser Single submitter ⚠
- p.Asn76Ile Single submitter ⚠
- p.Asn98Ser Single submitter ⚠
- p.Asp147Gly Single submitter ⚠
- p.Asp201Glu Single submitter ⚠
- p.Glu114Asp Single submitter ⚠
- p.Glu116Asp Single submitter ⚠
- p.Glu20Ala Single submitter ⚠
- p.Glu27Lys Single submitter ⚠
- p.Glu42Lys Single submitter ⚠
- p.Gly194Arg Single submitter ⚠
- p.His196Gln Single submitter ⚠
- p.His196Pro Single submitter
- p.Ile48Asn Single submitter
- p.Leu139Arg Single submitter ⚠
- p.Leu86Val Single submitter ⚠
- p.Met80Val Single submitter
- p.Phe17Ile Single submitter ⚠
- p.Pro119Arg Single submitter ⚠
- p.Pro171Leu Single submitter ⚠
- p.Ser15Phe Single submitter
- p.Ser205Tyr Single submitter ⚠
- p.Ser39Leu Single submitter
- p.Ser41Gly Single submitter ⚠
- p.Val124Ile Single submitter ⚠