HIRA — 178 ClinVar variants
All ClinVar germline HIRA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →
1 Conflicting · 28 Benign · 3 Benign/Likely benign · 37 Likely benign · 109 Uncertain significance
Full HIRA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 102
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HIRA p.Cys723Tyr Uncertain significance Multiple submitters
- HIRA p.Ala291Glu Uncertain significance Single submitter
- HIRA p.Ala29Thr Uncertain significance Single submitter
- HIRA p.Ala419Val Uncertain significance Single submitter
- HIRA p.Ala489Val Uncertain significance Single submitter
- HIRA p.Ala514Ser Uncertain significance Single submitter
- HIRA p.Ala514Thr Uncertain significance Single submitter
- HIRA p.Ala667Val Uncertain significance Single submitter
- HIRA p.Ala789Val Uncertain significance Single submitter
- HIRA p.Ala792Thr Uncertain significance Single submitter
- HIRA p.Ala818Ser Uncertain significance Single submitter
- HIRA p.Ala901Val Uncertain significance Single submitter
- HIRA p.Ala943Val Uncertain significance Single submitter
- HIRA p.Arg1015Gly Uncertain significance Single submitter
- HIRA p.Arg1015Thr Uncertain significance Single submitter
- HIRA p.Arg605Gln Uncertain significance Single submitter
- HIRA p.Arg651Gly Uncertain significance Single submitter
- HIRA p.Arg720Cys Uncertain significance Single submitter
- HIRA p.Arg725Gln Uncertain significance Single submitter
- HIRA p.Arg892Cys Uncertain significance Single submitter
- HIRA p.Asp133Ala Uncertain significance Single submitter
- HIRA p.Asp356Asn Uncertain significance Single submitter
- HIRA p.Asp699Asn Uncertain significance Single submitter
- HIRA p.Asp841Asn Uncertain significance Single submitter
- HIRA p.Cys867Phe Uncertain significance Single submitter
- HIRA p.Gln390Arg Uncertain significance Single submitter
- HIRA p.Gln408Arg Uncertain significance Single submitter
- HIRA p.Gln689Lys Uncertain significance Single submitter
- HIRA p.Glu370Asp Uncertain significance Single submitter
- HIRA p.Glu57Val Uncertain significance Single submitter
- HIRA p.Glu595Lys Uncertain significance Single submitter
- HIRA p.Glu632Asp Uncertain significance Single submitter
- HIRA p.Gly350Ser Uncertain significance Single submitter
- HIRA p.Gly714Arg Uncertain significance Single submitter
- HIRA p.Ile385Val Uncertain significance Single submitter
- HIRA p.Ile771Phe Uncertain significance Single submitter
- HIRA p.Leu484Val Uncertain significance Single submitter
- HIRA p.Leu631Phe Uncertain significance Single submitter
- HIRA p.Leu694Ile Uncertain significance Single submitter
- HIRA p.Leu916Val Uncertain significance Single submitter
- HIRA p.Leu940Phe Uncertain significance Single submitter
-
HIRA p.Lys14Arg
Uncertain significance
Single submitter
Fanconi anemia complementation group T
- HIRA p.Met423Ile Uncertain significance Single submitter
- HIRA p.Met45Val Uncertain significance Single submitter
- HIRA p.Met562Val Uncertain significance Single submitter
- HIRA p.Met702Val Uncertain significance Single submitter
- HIRA p.Pro509Thr Uncertain significance Single submitter
- HIRA p.Pro521Ser Uncertain significance Single submitter
- HIRA p.Pro556Leu Uncertain significance Single submitter
- HIRA p.Pro654Ser Uncertain significance Single submitter
- HIRA p.Pro776Leu Uncertain significance Single submitter
- HIRA p.Pro849Leu Uncertain significance Single submitter
- HIRA p.Pro849Ser Uncertain significance Single submitter
- HIRA p.Ser106Gly Uncertain significance Single submitter
- HIRA p.Ser425Thr Uncertain significance Single submitter
- HIRA p.Ser46Cys Uncertain significance Single submitter
- HIRA p.Ser549Leu Uncertain significance Single submitter
- HIRA p.Ser761Pro Uncertain significance Single submitter
- HIRA p.Ser785Cys Uncertain significance Single submitter
- HIRA p.Ser81Gly Uncertain significance Single submitter
- HIRA p.Ser896Pro Uncertain significance Single submitter
- HIRA p.Thr508Ile Uncertain significance Single submitter
- HIRA p.Thr583Ile Uncertain significance Single submitter
- HIRA p.Thr732Met Uncertain significance Single submitter
- HIRA p.Thr762Ile Uncertain significance Single submitter
- HIRA p.Thr823Met Uncertain significance Single submitter
- HIRA p.Trp182Arg Uncertain significance Single submitter
- HIRA p.Val161Ile Uncertain significance Single submitter
- HIRA p.Val311Ile Uncertain significance Single submitter
- HIRA p.Val590Met Uncertain significance Single submitter
- HIRA p.Val710Ala Uncertain significance Single submitter
- HIRA p.Val716Leu Uncertain significance Single submitter
- HIRA p.Val716Met Uncertain significance Single submitter
- HIRA p.Val747Ala Uncertain significance Single submitter
- HIRA p.Val747Met Uncertain significance Single submitter
- HIRA p.Val76Met Uncertain significance Single submitter
- HIRA p.Val787Ile Uncertain significance Single submitter
-
HIRA p.Ile482Val
Uncertain significance
No assertion criteria
HIRA-related disorder
-
HIRA p.Val274Met
Uncertain significance
No assertion criteria
prostate cancer
Predictors split 22
The independent predictors disagree with each other — read with care.
-
HIRA p.Arg307Leu
Uncertain significance
Single submitter
neurodevelopmental disorder
- HIRA p.Arg453Trp Uncertain significance Single submitter
- HIRA p.Arg720His Uncertain significance Single submitter
- HIRA p.Arg737Trp Uncertain significance Single submitter
- HIRA p.Arg902Trp Uncertain significance Single submitter
- HIRA p.Gly110Ser Uncertain significance Single submitter
- HIRA p.Gly715Ala Uncertain significance Single submitter
- HIRA p.Gly884Glu Uncertain significance Single submitter
- HIRA p.Gly995Arg Uncertain significance Single submitter
- HIRA p.Ile441Thr Uncertain significance Single submitter
- HIRA p.Leu772Pro Uncertain significance Single submitter
- HIRA p.Lys14Asn Uncertain significance Single submitter
- HIRA p.Lys259Asn Uncertain significance Single submitter
- HIRA p.Lys283Asn Uncertain significance Single submitter
- HIRA p.Phe478Leu Uncertain significance Single submitter
- HIRA p.Phe904Leu Uncertain significance Single submitter
- HIRA p.Pro561Arg Uncertain significance Single submitter
- HIRA p.Pro885Leu Uncertain significance Single submitter
- HIRA p.Ser567Phe Uncertain significance Single submitter
- HIRA p.Thr830Met Uncertain significance Single submitter
- HIRA p.Val947Leu Uncertain significance Single submitter
-
HIRA p.Arg196His
Likely benign
No assertion criteria
HIRA-related disorder
All HIRA variants
Conflicting classifications of pathogenicity 1
- p.Arg373His Single submitter ⚠
Benign 28
- c.100+84A>G Multiple submitters
- c.1415+91G>A Multiple submitters
- c.1613+106A>G Multiple submitters
- c.1776-136C>G Multiple submitters
- c.1981-42T>C Multiple submitters
- c.2085+117A>G Multiple submitters
- c.2234+24C>T Multiple submitters
- c.2397-70G>A Multiple submitters
- c.2456-117G>T Multiple submitters
- c.494-119G>C Multiple submitters
- c.936+69A>C Multiple submitters
- c.936+7C>G Multiple submitters
- c.937-47G>A Multiple submitters
- c.-94T>C Multiple submitters
- c.*51G>A Multiple submitters
- p.His933= Multiple submitters
- p.Pro885= Multiple submitters
- p.Pro907= Multiple submitters
- c.1008-131_1008-114del Single submitter
- c.1008-159C>G Single submitter
- c.2561+9G>A Single submitter
- c.38-12_38-11del Single submitter
- c.-21GGC[6] Single submitter
- p.Ala489= Single submitter
- p.Leu355= Single submitter
- p.Leu464= Single submitter
- p.Ser858= Single submitter
- c.2396+8del No assertion criteria HIRA-related disorder
Benign/Likely benign 3
- p.Ala389Thr Multiple submitters
- p.Leu813= Multiple submitters
- p.Thr203= Multiple submitters
Likely benign 37
- c.1614-3C>T Multiple submitters
- p.Gly513= Multiple submitters
- p.Thr7= Multiple submitters
- c.2085+8C>G Single submitter
- c.2455+8A>G Single submitter
- c.936+8T>C Single submitter
- p.Ala419= Single submitter
- p.Ala477Val Single submitter
- p.Ala943= Single submitter
- p.Asn434= Single submitter
- p.Asp233= Single submitter
- p.Asp349= Single submitter
- p.Glu636= Single submitter
- p.Gly743= Single submitter
- p.Ile771= Single submitter
- p.Leu3= Single submitter
- p.Leu548Ser Single submitter
- p.Leu598= Single submitter
- p.Met539Val Single submitter
- p.Pro556= Single submitter
- p.Pro604= Single submitter
- p.Pro965= Single submitter
- p.Ser377= Single submitter
- p.Ser761= Single submitter
- p.Ser840= Single submitter
- p.Thr1005= Single submitter
- p.Thr462= Single submitter
- p.Thr830= Single submitter
- p.Val238= Single submitter
- p.Val947Ile Single submitter
- c.38-12_38-10del No assertion criteria HIRA-related disorder
- c.-21GGC[4] No assertion criteria HIRA-related disorder
- p.Ala581Thr No assertion criteria HIRA-related disorder
- p.Ala844= No assertion criteria HIRA-related disorder
- p.Arg196His No assertion criteria HIRA-related disorder ⚠
- p.Asn245= No assertion criteria HIRA-related disorder
- p.Lys754= No assertion criteria HIRA-related disorder
Uncertain significance 109
- p.Cys723Tyr Multiple submitters ⚠
- p.Ala291Glu Single submitter ⚠
- p.Ala29Thr Single submitter ⚠
- p.Ala419Val Single submitter ⚠
- p.Ala489Val Single submitter ⚠
- p.Ala514Ser Single submitter ⚠
- p.Ala514Thr Single submitter ⚠
- p.Ala667Val Single submitter ⚠
- p.Ala751Thr Single submitter
- p.Ala789Val Single submitter ⚠
- p.Ala792Thr Single submitter ⚠
- p.Ala818Ser Single submitter ⚠
- p.Ala901Val Single submitter ⚠
- p.Ala943Val Single submitter ⚠
- p.Arg1015Gly Single submitter ⚠
- p.Arg1015Thr Single submitter ⚠
- p.Arg307Leu Single submitter neurodevelopmental disorder ⚠
- p.Arg453Trp Single submitter ⚠
- p.Arg605Gln Single submitter ⚠
- p.Arg651Gly Single submitter ⚠
- p.Arg720Cys Single submitter ⚠
- p.Arg720His Single submitter ⚠
- p.Arg725Gln Single submitter ⚠
- p.Arg737Trp Single submitter ⚠
- p.Arg892Cys Single submitter ⚠
- p.Arg902Trp Single submitter ⚠
- p.Arg99Trp Single submitter
- p.Asn339fs Single submitter
- p.Asp133Ala Single submitter ⚠
- p.Asp356Asn Single submitter ⚠
- p.Asp699Asn Single submitter ⚠
- p.Asp841Asn Single submitter ⚠
- p.Cys867Phe Single submitter ⚠
- p.Gln390Arg Single submitter ⚠
- p.Gln408Arg Single submitter ⚠
- p.Gln689Lys Single submitter ⚠
- p.Glu370Asp Single submitter ⚠
- p.Glu57Val Single submitter ⚠
- p.Glu595Lys Single submitter ⚠
- p.Glu632Asp Single submitter ⚠
- p.Gly110Ser Single submitter ⚠
- p.Gly172Ser Single submitter
- p.Gly350Ser Single submitter ⚠
- p.Gly714Arg Single submitter ⚠
- p.Gly715Ala Single submitter ⚠
- p.Gly884Glu Single submitter ⚠
- p.Gly995Arg Single submitter ⚠
- p.Ile385Val Single submitter ⚠
- p.Ile441Thr Single submitter ⚠
- p.Ile771Phe Single submitter ⚠
- p.Leu484Val Single submitter ⚠
- p.Leu631Phe Single submitter ⚠
- p.Leu694Ile Single submitter ⚠
- p.Leu772Pro Single submitter ⚠
- p.Leu916Val Single submitter ⚠
- p.Leu93Val Single submitter neurodevelopmental disorder
- p.Leu940Phe Single submitter ⚠
- p.Lys14Arg Single submitter Fanconi anemia complementation group T ⚠
- p.Lys14Asn Single submitter ⚠
- p.Lys259Asn Single submitter ⚠
- p.Lys283Asn Single submitter ⚠
- p.Met1Val Single submitter HIRA-related disorder
- p.Met423Ile Single submitter ⚠
- p.Met45Val Single submitter ⚠
- p.Met562Val Single submitter ⚠
- p.Met702Val Single submitter ⚠
- p.Phe478Leu Single submitter ⚠
- p.Phe904Leu Single submitter ⚠
- p.Pro365Ser Single submitter
- p.Pro509Thr Single submitter ⚠
- p.Pro521Ser Single submitter ⚠
- p.Pro556Leu Single submitter ⚠
- p.Pro561Arg Single submitter ⚠
- p.Pro654Ser Single submitter ⚠
- p.Pro776Leu Single submitter ⚠
- p.Pro849Leu Single submitter ⚠
- p.Pro849Ser Single submitter ⚠
- p.Pro885Leu Single submitter ⚠
- p.Ser106Gly Single submitter ⚠
- p.Ser377Phe Single submitter
- p.Ser425Thr Single submitter ⚠
- p.Ser46Cys Single submitter ⚠
- p.Ser549Leu Single submitter ⚠
- p.Ser567Phe Single submitter ⚠
- p.Ser761Pro Single submitter ⚠
- p.Ser785Cys Single submitter ⚠
- p.Ser81Gly Single submitter ⚠
- p.Ser896Pro Single submitter ⚠
- p.Thr508Ile Single submitter ⚠
- p.Thr583Ile Single submitter ⚠
- p.Thr732Met Single submitter ⚠
- p.Thr762Ile Single submitter ⚠
- p.Thr823Met Single submitter ⚠
- p.Thr830Met Single submitter ⚠
- p.Trp182Arg Single submitter ⚠
- p.Val161Ile Single submitter ⚠
- p.Val311Ile Single submitter ⚠
- p.Val590Met Single submitter ⚠
- p.Val710Ala Single submitter ⚠
- p.Val716Leu Single submitter ⚠
- p.Val716Met Single submitter ⚠
- p.Val747Ala Single submitter ⚠
- p.Val747Met Single submitter ⚠
- p.Val76Met Single submitter ⚠
- p.Val787Ile Single submitter ⚠
- p.Val947Leu Single submitter ⚠
- c.2396+2T>G No assertion criteria HIRA-related disorder
- p.Ile482Val No assertion criteria HIRA-related disorder ⚠
- p.Val274Met No assertion criteria prostate cancer ⚠