RHAG — 185 ClinVar variants
All ClinVar germline RHAG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →
13 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 9 Conflicting · 15 Benign · 8 Benign/Likely benign · 39 Likely benign · 96 Uncertain significance
Full RHAG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 94
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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RHAG p.Ile149Met
Pathogenic
No assertion criteria
overhydrated hereditary stomatocytosis
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 67
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RHAG p.Arg264Gln Uncertain significance Multiple submitters
- RHAG p.Glu49Gln Uncertain significance Multiple submitters
- RHAG p.Ile146Thr Uncertain significance Multiple submitters
- RHAG p.Ile46Met Uncertain significance Multiple submitters
- RHAG p.Leu22Val Uncertain significance Multiple submitters
- RHAG p.Leu252Phe Uncertain significance Multiple submitters
- RHAG p.Lys266Arg Uncertain significance Multiple submitters
- RHAG p.Phe47Ser Uncertain significance Multiple submitters
- RHAG p.Thr320Ser Uncertain significance Multiple submitters
- RHAG p.Thr408Met Uncertain significance Multiple submitters
- RHAG p.Thr70Ile Uncertain significance Multiple submitters
- RHAG p.Thr70Pro Uncertain significance Multiple submitters
- RHAG p.Val339Ile Uncertain significance Multiple submitters
-
RHAG p.Val340Met
Uncertain significance
Multiple submitters
RHAG-related disorder
- RHAG p.Ala118Pro Uncertain significance Single submitter
- RHAG p.Ala176Val Uncertain significance Single submitter
- RHAG p.Ala248Thr Uncertain significance Single submitter
- RHAG p.Ala359Thr Uncertain significance Single submitter
- RHAG p.Ala362Val Uncertain significance Single submitter
- RHAG p.Arg409Thr Uncertain significance Single submitter
- RHAG p.Asn109Ser Uncertain significance Single submitter
- RHAG p.Asn155Ser Uncertain significance Single submitter
- RHAG p.Asn355His Uncertain significance Single submitter
- RHAG p.Asn37Ser Uncertain significance Single submitter
- RHAG p.Asp326Asn Uncertain significance Single submitter
- RHAG p.Asp398Glu Uncertain significance Single submitter
- RHAG p.Asp56Glu Uncertain significance Single submitter
- RHAG p.Gln30Arg Uncertain significance Single submitter
- RHAG p.Glu34Asp Uncertain significance Single submitter
- RHAG p.Gly178Arg Uncertain significance Single submitter
- RHAG p.Gly300Glu Uncertain significance Single submitter
- RHAG p.Gly304Glu Uncertain significance Single submitter
- RHAG p.Gly342Asp Uncertain significance Single submitter
- RHAG p.Gly389Arg Uncertain significance Single submitter
- RHAG p.Gly81Arg Uncertain significance Single submitter
- RHAG p.Gly94Asp Uncertain significance Single submitter
- RHAG p.His198Asp Uncertain significance Single submitter
- RHAG p.His58Tyr Uncertain significance Single submitter
- RHAG p.Ile162Thr Uncertain significance Single submitter
- RHAG p.Ile188Ser Uncertain significance Single submitter
- RHAG p.Ile82Val Uncertain significance Single submitter
- RHAG p.Leu365Arg Uncertain significance Single submitter
-
RHAG p.Leu387Pro
Uncertain significance
Single submitter
supravalvular aortic stenosis
- RHAG p.Leu85Pro Uncertain significance Single submitter
- RHAG p.Leu89Phe Uncertain significance Single submitter
- RHAG p.Met141Leu Uncertain significance Single submitter
- RHAG p.Met172Val Uncertain significance Single submitter
- RHAG p.Met358Thr Uncertain significance Single submitter
- RHAG p.Met360Val Uncertain significance Single submitter
- RHAG p.Phe245Leu Uncertain significance Single submitter
- RHAG p.Phe3Val Uncertain significance Single submitter
- RHAG p.Phe48Ser Uncertain significance Single submitter
- RHAG p.Phe65Cys Uncertain significance Single submitter
- RHAG p.Pro232Leu Uncertain significance Single submitter
- RHAG p.Pro52Ser Uncertain significance Single submitter
- RHAG p.Ser103Asn Uncertain significance Single submitter
- RHAG p.Ser171Leu Uncertain significance Single submitter
- RHAG p.Ser192Ala Uncertain significance Single submitter
- RHAG p.Ser301Gly Uncertain significance Single submitter
- RHAG p.Thr371Ile Uncertain significance Single submitter
- RHAG p.Thr39Asn Uncertain significance Single submitter
- RHAG p.Tyr397His Uncertain significance Single submitter
- RHAG p.Tyr402His Uncertain significance Single submitter
- RHAG p.Val159Ile Uncertain significance Single submitter
- RHAG p.Val241Ala Uncertain significance Single submitter
- RHAG p.Val251Ala Uncertain significance Single submitter
-
RHAG p.Ile96Thr
Uncertain significance
No assertion criteria
RHAG-related disorder
Predictors split 22
The independent predictors disagree with each other — read with care.
- RHAG p.Arg191Gln Uncertain significance Multiple submitters
-
RHAG p.His325Arg
Uncertain significance
Multiple submitters
overhydrated hereditary stomatocytosis
- RHAG p.Ser392Tyr Uncertain significance Multiple submitters
-
RHAG p.Val270Ile
Benign/Likely benign
Multiple submitters
Rh-null, regulator type
- RHAG p.Arg191Leu Uncertain significance Single submitter
- RHAG p.Asn332Ser Uncertain significance Single submitter
- RHAG p.Asp208Asn Uncertain significance Single submitter
-
RHAG p.Gly370Arg
Conflicting
Single submitter
Rh-null, regulator type
- RHAG p.Ile110Thr Uncertain significance Single submitter
-
RHAG p.Ile213Thr
Uncertain significance
Single submitter
overhydrated hereditary stomatocytosis
- RHAG p.Lys321Asn Uncertain significance Single submitter
- RHAG p.Met144Ile Uncertain significance Single submitter
- RHAG p.Met212Ile Uncertain significance Single submitter
- RHAG p.Met378Arg Uncertain significance Single submitter
- RHAG p.Phe294Cys Uncertain significance Single submitter
- RHAG p.Phe67Leu Conflicting Single submitter
- RHAG p.Ser307Cys Uncertain significance Single submitter
- RHAG p.Thr136Met Uncertain significance Single submitter
- RHAG p.Thr173Met Uncertain significance Single submitter
- RHAG p.Thr276Ser Uncertain significance Single submitter
- RHAG p.Tyr205Cys Uncertain significance Single submitter
-
RHAG p.Leu336Ser
Uncertain significance
No assertion criteria
overhydrated hereditary stomatocytosis
All RHAG variants
Pathogenic 13
- p.Phe65Ser Multiple submitters overhydrated hereditary stomatocytosis
- c.1067+1G>A Single submitter Rh deficiency syndrome
- p.Trp388Ter Single submitter
- p.Tyr157Ter Single submitter
- c.946-1G>A No assertion criteria Rh-null, regulator type
- p.Ala363fs No assertion criteria Rh-null, regulator type
- p.Gly182Ser No assertion criteria Rh-null, regulator type
- p.Gly380Val No assertion criteria Rh-null, regulator type
- p.Ile149Met No assertion criteria overhydrated hereditary stomatocytosis ⚠
- p.Ile61Arg No assertion criteria overhydrated hereditary stomatocytosis
- p.Pro52fs No assertion criteria Rh-null, regulator type
- p.Ser307Phe No assertion criteria Rh mod blood group phenotype
- p.Ser79Asn No assertion criteria Rh mod blood group phenotype
Pathogenic/Likely pathogenic 1
- c.157+1G>A Multiple submitters overhydrated hereditary stomatocytosis
Likely pathogenic 4
- c.1139-2A>G Single submitter
- p.Gly279Glu Single submitter overhydrated hereditary stomatocytosis
- p.Gly345Asp Single submitter
- p.Phe71fs Single submitter
Conflicting classifications of pathogenicity 9
- c.1067+3G>A Single submitter
- p.Ala204Val Single submitter ⚠
- p.Gly370Arg Single submitter Rh-null, regulator type ⚠
- p.Leu383Ile Single submitter ⚠
- p.Leu385fs Single submitter
- p.Phe67Leu Single submitter ⚠
- p.Ser367= Single submitter
- p.Val63Leu Single submitter ⚠
- p.Val86Ile Single submitter ⚠
Benign 15
- c.1212+207C>A Single submitter
- c.158-152A>G Single submitter
- c.158-267T>C Single submitter
- c.158-298T>G Single submitter
- c.341+260G>C Single submitter
- c.641-51G>A Single submitter
- c.807+112G>A Single submitter
- c.807+280C>T Single submitter
- c.808-236A>G Single submitter
- c.808-300A>G Single submitter
- c.808-311T>C Single submitter
- c.945+76del Single submitter
- c.946-100T>C Single submitter
- c.946-171C>T Single submitter
- c.946-18_946-16del Single submitter
Benign/Likely benign 8
- c.1139-7G>A Multiple submitters
- c.1212+5T>C Multiple submitters
- c.492+16T>C Multiple submitters
- c.946-18T>C Multiple submitters
- c.946-18T>G Multiple submitters
- p.Ala287= Multiple submitters
- p.Ile369= Multiple submitters
- p.Val270Ile Multiple submitters Rh-null, regulator type ⚠
Likely benign 39
- c.807+9C>T Multiple submitters
- p.Thr28Met Multiple submitters
- p.Thr408= Multiple submitters
- c.1067+8A>G Single submitter
- c.1068-15T>C Single submitter
- c.1139-8C>T Single submitter
- c.158-10T>G Single submitter
- c.341+10C>T Single submitter
- c.342-4T>G Single submitter
- c.492+17T>G Single submitter
- c.492+19A>G Single submitter
- c.493-13T>C Single submitter
- c.493-14A>G Single submitter
- c.493-16C>T Single submitter
- c.807+10G>A Single submitter
- c.807+3_807+6dup Single submitter
- c.808-11C>T Single submitter
- p.Ala353Thr Single submitter
- p.Ala363= Single submitter
- p.Asn109= Single submitter
- p.Asp326= Single submitter
- p.Gly352= Single submitter
- p.Ile143= Single submitter
- p.Leu158= Single submitter
- p.Leu22= Single submitter
- p.Leu247= Single submitter
- p.Leu85= Single submitter
- p.Lys196= Single submitter
- p.Phe71= Single submitter
- p.Ser203= Single submitter
- p.Ser227= Single submitter
- p.Thr136= Single submitter
- p.Thr173= Single submitter
- p.Thr276= Single submitter
- p.Thr319= Single submitter
- p.Tyr206= Single submitter
- p.Val330= Single submitter
- p.Val405= Single submitter
- c.808-10G>A No assertion criteria RHAG-related disorder
Uncertain significance 96
- c.341+4A>G Multiple submitters
- p.Arg191Gln Multiple submitters ⚠
- p.Arg264Gln Multiple submitters ⚠
- p.Glu49Gln Multiple submitters ⚠
- p.His325Arg Multiple submitters overhydrated hereditary stomatocytosis ⚠
- p.Ile146Thr Multiple submitters ⚠
- p.Ile46Met Multiple submitters ⚠
- p.Leu22Val Multiple submitters ⚠
- p.Leu252Phe Multiple submitters ⚠
- p.Lys266Arg Multiple submitters ⚠
- p.Phe47Ser Multiple submitters ⚠
- p.Ser392Tyr Multiple submitters ⚠
- p.Thr320Ser Multiple submitters ⚠
- p.Thr408Met Multiple submitters ⚠
- p.Thr70Ile Multiple submitters ⚠
- p.Thr70Pro Multiple submitters ⚠
- p.Val339Ile Multiple submitters ⚠
- p.Val340Met Multiple submitters RHAG-related disorder ⚠
- c.1068-26T>C Single submitter
- c.946-3T>C Single submitter
- c.946-5T>G Single submitter
- p.Ala118Pro Single submitter ⚠
- p.Ala176Val Single submitter ⚠
- p.Ala248Thr Single submitter ⚠
- p.Ala287Val Single submitter overhydrated hereditary stomatocytosis
- p.Ala359Thr Single submitter ⚠
- p.Ala362Val Single submitter ⚠
- p.Arg191Leu Single submitter ⚠
- p.Arg409Thr Single submitter ⚠
- p.Asn109Ser Single submitter ⚠
- p.Asn155Ser Single submitter ⚠
- p.Asn332Ser Single submitter ⚠
- p.Asn355His Single submitter ⚠
- p.Asn37Ser Single submitter ⚠
- p.Asp208Asn Single submitter ⚠
- p.Asp326Asn Single submitter ⚠
- p.Asp398Glu Single submitter ⚠
- p.Asp56Glu Single submitter ⚠
- p.Gln30Arg Single submitter ⚠
- p.Glu34Asp Single submitter ⚠
- p.Gly178Arg Single submitter ⚠
- p.Gly300Glu Single submitter ⚠
- p.Gly304Glu Single submitter ⚠
- p.Gly342Asp Single submitter ⚠
- p.Gly389Arg Single submitter ⚠
- p.Gly81Arg Single submitter ⚠
- p.Gly94Asp Single submitter ⚠
- p.Gly99Arg Single submitter
- p.His198Asp Single submitter ⚠
- p.His58Tyr Single submitter ⚠
- p.Ile110Thr Single submitter ⚠
- p.Ile162Thr Single submitter ⚠
- p.Ile188Ser Single submitter ⚠
- p.Ile213Thr Single submitter overhydrated hereditary stomatocytosis ⚠
- p.Ile82Val Single submitter ⚠
- p.Leu365Arg Single submitter ⚠
- p.Leu387Pro Single submitter supravalvular aortic stenosis ⚠
- p.Leu85Pro Single submitter ⚠
- p.Leu89Phe Single submitter ⚠
- p.Lys321Asn Single submitter ⚠
- p.Met141Leu Single submitter ⚠
- p.Met144Ile Single submitter ⚠
- p.Met172Val Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met212Ile Single submitter ⚠
- p.Met358Thr Single submitter ⚠
- p.Met360Val Single submitter ⚠
- p.Met378Arg Single submitter ⚠
- p.Phe245Leu Single submitter ⚠
- p.Phe294Cys Single submitter ⚠
- p.Phe313= Single submitter
- p.Phe3Val Single submitter ⚠
- p.Phe48Ser Single submitter ⚠
- p.Phe65Cys Single submitter ⚠
- p.Pro232Leu Single submitter ⚠
- p.Pro52Ser Single submitter ⚠
- p.Ser103Asn Single submitter ⚠
- p.Ser121Asn Single submitter
- p.Ser171Leu Single submitter ⚠
- p.Ser192Ala Single submitter ⚠
- p.Ser301Gly Single submitter ⚠
- p.Ser307Cys Single submitter ⚠
- p.Thr136Met Single submitter ⚠
- p.Thr173Met Single submitter ⚠
- p.Thr276Ser Single submitter ⚠
- p.Thr371Ile Single submitter ⚠
- p.Thr39Asn Single submitter ⚠
- p.Tyr205Cys Single submitter ⚠
- p.Tyr397His Single submitter ⚠
- p.Tyr402His Single submitter ⚠
- p.Val125= Single submitter
- p.Val159Ile Single submitter ⚠
- p.Val241Ala Single submitter ⚠
- p.Val251Ala Single submitter ⚠
- p.Ile96Thr No assertion criteria RHAG-related disorder ⚠
- p.Leu336Ser No assertion criteria overhydrated hereditary stomatocytosis ⚠