AAGAB — 134 ClinVar variants
All ClinVar germline AAGAB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →
16 Pathogenic · 5 Likely pathogenic · 6 Conflicting · 23 Benign · 1 Benign/Likely benign · 15 Likely benign · 68 Uncertain significance
Full AAGAB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 74
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- AAGAB p.Asn39Ser Conflicting Single submitter
- AAGAB p.Gly225Asp Conflicting Single submitter
-
AAGAB p.Ser220Pro
Conflicting
Single submitter
palmoplantar keratoderma, punctate type 1A
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
Predictors lean, ClinVar uncertain 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AAGAB p.Arg161Gln Uncertain significance Multiple submitters
- AAGAB p.Ala165Val Uncertain significance Single submitter
- AAGAB p.Ala232Val Uncertain significance Single submitter
- AAGAB p.Ala294Val Uncertain significance Single submitter
- AAGAB p.Ala71Gly Uncertain significance Single submitter
- AAGAB p.Ala74Pro Uncertain significance Single submitter
- AAGAB p.Arg180Gly Uncertain significance Single submitter
- AAGAB p.Arg223Pro Uncertain significance Single submitter
- AAGAB p.Asn169Ser Uncertain significance Single submitter
- AAGAB p.Asn51Asp Uncertain significance Single submitter
- AAGAB p.Asp179Gly Uncertain significance Single submitter
- AAGAB p.Asp231Glu Uncertain significance Single submitter
- AAGAB p.Asp93Glu Uncertain significance Single submitter
- AAGAB p.Glu137Gly Uncertain significance Single submitter
- AAGAB p.Glu289Val Uncertain significance Single submitter
- AAGAB p.Glu307Asp Uncertain significance Single submitter
- AAGAB p.Gly4Asp Uncertain significance Single submitter
- AAGAB p.Leu22Pro Uncertain significance Single submitter
- AAGAB p.Leu269Ser Uncertain significance Single submitter
- AAGAB p.Leu9Ser Uncertain significance Single submitter
- AAGAB p.Lys285Thr Uncertain significance Single submitter
- AAGAB p.Met110Thr Uncertain significance Single submitter
- AAGAB p.Met241Thr Uncertain significance Single submitter
- AAGAB p.Met241Val Uncertain significance Single submitter
- AAGAB p.Phe80Leu Uncertain significance Single submitter
- AAGAB p.Pro143Ser Uncertain significance Single submitter
- AAGAB p.Ser185Arg Uncertain significance Single submitter
- AAGAB p.Ser185Asn Uncertain significance Single submitter
- AAGAB p.Ser196Gly Uncertain significance Single submitter
- AAGAB p.Trp105Arg Uncertain significance Single submitter
- AAGAB p.Tyr53His Uncertain significance Single submitter
- AAGAB p.Tyr54Cys Uncertain significance Single submitter
- AAGAB p.Val109Glu Uncertain significance Single submitter
- AAGAB p.Val109Met Uncertain significance Single submitter
- AAGAB p.Val10Asp Uncertain significance Single submitter
- AAGAB p.Val10Ile Uncertain significance Single submitter
- AAGAB p.Val234Ala Uncertain significance Single submitter
- AAGAB p.Val234Gly Uncertain significance Single submitter
- AAGAB p.Val5Ile Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- AAGAB p.Leu92Val Uncertain significance Multiple submitters
- AAGAB p.Met110Lys Benign/Likely benign Multiple submitters
- AAGAB p.Ala277Val Uncertain significance Single submitter
- AAGAB p.Ala2Gly Uncertain significance Single submitter
- AAGAB p.Ala2Thr Uncertain significance Single submitter
- AAGAB p.Ala8Gly Uncertain significance Single submitter
- AAGAB p.Arg223Trp Uncertain significance Single submitter
- AAGAB p.Asn169Lys Uncertain significance Single submitter
- AAGAB p.Asn39Tyr Uncertain significance Single submitter
- AAGAB p.Asp115Asn Uncertain significance Single submitter
- AAGAB p.Asp115Gly Uncertain significance Single submitter
- AAGAB p.Asp258Val Uncertain significance Single submitter
- AAGAB p.Asp31Tyr Uncertain significance Single submitter
- AAGAB p.Glu248Asp Benign Single submitter
- AAGAB p.Glu271Asp Uncertain significance Single submitter
- AAGAB p.His287Gln Uncertain significance Single submitter
- AAGAB p.Ile26Met Uncertain significance Single submitter
- AAGAB p.Ile306Thr Uncertain significance Single submitter
- AAGAB p.Leu265Phe Uncertain significance Single submitter
- AAGAB p.Leu99Arg Uncertain significance Single submitter
- AAGAB p.Lys133Arg Likely benign Single submitter
- AAGAB p.Phe17Ser Uncertain significance Single submitter
- AAGAB p.Pro64Ser Uncertain significance Single submitter
- AAGAB p.Ser14Phe Uncertain significance Single submitter
- AAGAB p.Ser156Cys Uncertain significance Single submitter
- AAGAB p.Ser220Cys Uncertain significance Single submitter
- AAGAB p.Thr278Met Uncertain significance Single submitter
-
AAGAB p.Val139Ile
Conflicting
Single submitter
palmoplantar keratoderma, punctate type 1A
- AAGAB p.Val34Met Conflicting Single submitter
- AAGAB p.Val5Leu Uncertain significance Single submitter
- AAGAB p.Val62Met Uncertain significance Single submitter
All AAGAB variants
Pathogenic 16
- c.451+3_451+6del Multiple submitters palmoplantar keratoderma, punctate type 1A
- p.Arg124Ter Multiple submitters palmoplantar keratoderma, punctate type 1A
- p.Arg161Ter Multiple submitters palmoplantar keratoderma, punctate type 1A
- p.Gln21Ter Multiple submitters palmoplantar keratoderma, punctate type 1A
- p.Gly158fs Multiple submitters palmoplantar keratoderma, punctate type 1A
- c.17_73+18del Single submitter
- c.535+1G>T Single submitter endocrine gland neoplasm
- p.Asn169fs Single submitter
- p.Cys61Ter Single submitter
- p.Thr11fs Single submitter palmoplantar keratoderma, punctate type 1A
- p.Thr254fs Single submitter
- p.Trp105Ter Single submitter palmoplantar keratoderma, punctate type 1A
- p.Trp130Ter Single submitter
- p.Trp47Ter Single submitter
- p.Arg116fs No assertion criteria palmoplantar keratoderma, punctate type 1A
- p.Phe67fs No assertion criteria palmoplantar keratoderma, punctate type 1A
Likely pathogenic 5
- c.451+1G>T Single submitter Palmoplantar keratoderma
- c.821-1G>C Single submitter
- c.870+1G>T Single submitter palmoplantar keratoderma, punctate type 1A
- p.Glu260Ter Single submitter palmoplantar keratoderma, punctate type 1A
- p.Phe17fs Single submitter AAGAB-related disorder
Conflicting classifications of pathogenicity 6
- p.Asn39Ser Single submitter ⚠
- p.Gly225Asp Single submitter ⚠
- p.Met1Val Single submitter ⚠
- p.Ser220Pro Single submitter palmoplantar keratoderma, punctate type 1A ⚠
- p.Val139Ile Single submitter palmoplantar keratoderma, punctate type 1A ⚠
- p.Val34Met Single submitter ⚠
Benign 23
- c.264+33A>G Multiple submitters palmoplantar keratoderma, punctate type 1A
- c.536-95G>A Multiple submitters palmoplantar keratoderma, punctate type 1A
- c.618+18A>G Multiple submitters palmoplantar keratoderma, punctate type 1A
- c.619-37C>T Multiple submitters palmoplantar keratoderma, punctate type 1A
- c.-255+174G>T Multiple submitters
- c.*237A>G Multiple submitters
- p.Ala3= Multiple submitters
- p.Asn228Asp Multiple submitters
- p.Ile132Leu Multiple submitters palmoplantar keratoderma, punctate type 1A
- p.Phe136= Multiple submitters
- c.362-144G>A Single submitter
- c.452-146G>A Single submitter
- c.535+267G>A Single submitter
- c.535+4901T>A Single submitter
- c.536-284T>A Single submitter
- c.618+208G>A Single submitter
- c.820+147dup Single submitter
- p.Arg223= Single submitter
- p.Glu248Asp Single submitter ⚠
- p.Phe17= Single submitter
- p.Pro46= Single submitter
- p.Ser38= Single submitter
- c.-10G>A No assertion criteria AAGAB-related disorder
Benign/Likely benign 1
- p.Met110Lys Multiple submitters ⚠
Likely benign 15
- c.264+18A>G Single submitter
- c.361+14A>T Single submitter
- c.452-27AT[3] Single submitter
- c.821-13A>G Single submitter
- p.Ala168= Single submitter
- p.Ala232= Single submitter
- p.Asn188Ser Single submitter
- p.Asp201= Single submitter
- p.Gln128= Single submitter
- p.Ile122Val Single submitter
- p.Lys133Arg Single submitter ⚠
- p.Ser218= Single submitter
- p.Thr11= Single submitter
- c.362-10A>T No assertion criteria AAGAB-related disorder
- p.Ala2= No assertion criteria AAGAB-related disorder
Uncertain significance 68
- p.Arg161Gln Multiple submitters ⚠
- p.Leu92Val Multiple submitters ⚠
- c.451+2dup Single submitter palmoplantar keratoderma, punctate type 1A
- c.870+1G>A Single submitter palmoplantar keratoderma, punctate type 1A
- p.Ala165Val Single submitter ⚠
- p.Ala213Leu Single submitter
- p.Ala232Val Single submitter ⚠
- p.Ala277Val Single submitter ⚠
- p.Ala294Val Single submitter ⚠
- p.Ala2Gly Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala71Gly Single submitter ⚠
- p.Ala74Pro Single submitter ⚠
- p.Ala8Gly Single submitter ⚠
- p.Arg180Gly Single submitter ⚠
- p.Arg223Pro Single submitter ⚠
- p.Arg223Trp Single submitter ⚠
- p.Asn169Lys Single submitter ⚠
- p.Asn169Ser Single submitter ⚠
- p.Asn39Tyr Single submitter ⚠
- p.Asn51Asp Single submitter ⚠
- p.Asp115Asn Single submitter ⚠
- p.Asp115Gly Single submitter ⚠
- p.Asp179Gly Single submitter ⚠
- p.Asp231Glu Single submitter ⚠
- p.Asp258Val Single submitter ⚠
- p.Asp31Tyr Single submitter ⚠
- p.Asp93Glu Single submitter ⚠
- p.Glu137Gly Single submitter ⚠
- p.Glu271Asp Single submitter ⚠
- p.Glu289Val Single submitter ⚠
- p.Glu307Asp Single submitter ⚠
- p.Gly4Asp Single submitter ⚠
- p.His287Gln Single submitter ⚠
- p.Ile26Met Single submitter ⚠
- p.Ile306Thr Single submitter ⚠
- p.Leu22Pro Single submitter ⚠
- p.Leu265Phe Single submitter ⚠
- p.Leu269Ser Single submitter ⚠
- p.Leu99Arg Single submitter ⚠
- p.Leu9Ser Single submitter ⚠
- p.Lys285Thr Single submitter ⚠
- p.Met110Thr Single submitter ⚠
- p.Met241Thr Single submitter ⚠
- p.Met241Val Single submitter ⚠
- p.Phe17Ser Single submitter ⚠
- p.Phe80Leu Single submitter ⚠
- p.Pro143Ser Single submitter ⚠
- p.Pro64Ser Single submitter ⚠
- p.Ser14Phe Single submitter ⚠
- p.Ser156Cys Single submitter ⚠
- p.Ser185Arg Single submitter ⚠
- p.Ser185Asn Single submitter ⚠
- p.Ser196Gly Single submitter ⚠
- p.Ser220Cys Single submitter ⚠
- p.Thr278Met Single submitter ⚠
- p.Trp105Arg Single submitter ⚠
- p.Tyr53His Single submitter ⚠
- p.Tyr54Cys Single submitter ⚠
- p.Val109Glu Single submitter ⚠
- p.Val109Met Single submitter ⚠
- p.Val10Asp Single submitter ⚠
- p.Val10Ile Single submitter ⚠
- p.Val234Ala Single submitter ⚠
- p.Val234Gly Single submitter ⚠
- p.Val5Ile Single submitter ⚠
- p.Val5Leu Single submitter ⚠
- p.Val62Met Single submitter ⚠