ADPRHL1 — 99 ClinVar variants

All ClinVar germline ADPRHL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

3 Benign · 18 Likely benign · 78 Uncertain significance

Full ADPRHL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 69

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 55

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 14

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

All ADPRHL1 variants

Benign 3

p.Asp282= Multiple submitters
p.Ser49= Multiple submitters
p.Ala7Val Single submitter

Likely benign 18

p.Ala1652= Single submitter
p.Ala344Thr Single submitter
p.Ala565= Single submitter
p.Arg1677= Single submitter
p.Arg1701= Single submitter
p.Arg969= Single submitter
p.Arg97His Single submitter
p.Asp368= Single submitter
p.Glu1714= Single submitter
p.Gly129= Single submitter
p.Gly1575= Single submitter
p.Gly1707= Single submitter
p.Lys24Arg Single submitter
p.Phe555Leu Single submitter
p.Pro248= Single submitter
p.Ser1275= Single submitter
p.Ser40= Single submitter
p.Trp53Ter Single submitter

Uncertain significance 78

p.Ala118Thr Single submitter ⚠
p.Ala132Val Single submitter ⚠
p.Ala183Ser Single submitter ⚠
p.Ala183Thr Single submitter
p.Ala276Asp Single submitter ⚠
p.Ala306Thr Single submitter ⚠
p.Ala307Thr Single submitter ⚠
p.Ala344Val Single submitter ⚠
p.Ala66Thr Single submitter
p.Arg142Gln Single submitter ⚠
p.Arg142Trp Single submitter
p.Arg148Gln Single submitter ⚠
p.Arg148Trp Single submitter ⚠
p.Arg161Gln Single submitter ⚠
p.Arg161Trp Single submitter ⚠
p.Arg198Gln Single submitter ⚠
p.Arg212Gly Single submitter ⚠
p.Arg256Lys Single submitter ⚠
p.Arg268Gln Single submitter ⚠
p.Arg272Gln Single submitter
p.Arg297Gln Single submitter ⚠
p.Arg297Leu Single submitter
p.Arg297Trp Single submitter ⚠
p.Arg348Cys Single submitter ⚠
p.Arg348His Single submitter ⚠
p.Arg348Pro Single submitter ⚠
p.Arg39Cys Single submitter ⚠
p.Arg39His Single submitter ⚠
p.Arg81Gln Single submitter ⚠
p.Arg97Cys Single submitter ⚠
p.Arg97Pro Single submitter ⚠
p.Arg98Gln Single submitter ⚠
p.Arg98Trp Single submitter ⚠
p.Asn354Asp Single submitter ⚠
p.Asn58His Single submitter ⚠
p.Asp275Asn Single submitter ⚠
p.Asp335Asn Single submitter ⚠
p.Asp341Tyr Single submitter ⚠
p.Asp57His Single submitter
p.Cys207Ser Single submitter ⚠
p.Gln109Pro Single submitter ⚠
p.Gln185Arg Single submitter ⚠
p.Gln191His Single submitter ⚠
p.Gln331Arg Single submitter ⚠
p.Glu205Val Single submitter ⚠
p.Glu337Gly Single submitter ⚠
p.Glu67Lys Single submitter ⚠
p.Gly11Arg Single submitter ⚠
p.Gly14Ser Single submitter ⚠
p.Gly160Ser Single submitter
p.Gly313Asp Single submitter ⚠
p.Gly321Asp Single submitter ⚠
p.His274Asn Single submitter ⚠
p.Ile279Val Single submitter ⚠
p.Ile63Val Single submitter ⚠
p.Leu285Val Single submitter ⚠
p.Leu319Pro Single submitter ⚠
p.Leu346Val Single submitter ⚠
p.Lys111Arg Single submitter ⚠
p.Lys1682= Single submitter
p.Lys93Asn Single submitter ⚠
p.Met162Leu Single submitter ⚠
p.Met278Val Single submitter
p.Met31Leu Single submitter ⚠
p.Met31Thr Single submitter ⚠
p.Pro167Arg Single submitter ⚠
p.Pro201Arg Single submitter ⚠
p.Pro201Leu Single submitter ⚠
p.Pro201Thr Single submitter ⚠
p.Ser49Leu Single submitter ⚠
p.Trp144Arg Single submitter ⚠
p.Trp192Cys Single submitter ⚠
p.Trp228Arg Single submitter ⚠
p.Trp291Arg Single submitter ⚠
p.Val13Ile Single submitter ⚠
p.Val22Leu Single submitter ⚠
p.Val55Met Single submitter ⚠
p.Val91Ile Single submitter ⚠