ABAT — 752 ClinVar variants

All ClinVar germline ABAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 237 flagged for review →

17 Pathogenic · 4 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 30 Conflicting · 64 Benign · 7 Benign/Likely benign · 304 Likely benign · 305 Uncertain significance

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

⚑ Evidence disagreements 237

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.

ABAT p.Arg92Gln Pathogenic/Likely pathogenic Multiple submitters
GABA aminotransaminase deficiency

Predictors agree, ClinVar conflicts 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ABAT p.Arg187Ser Conflicting Single submitter
GABA aminotransaminase deficiency
ABAT p.Gly465Asp Conflicting Single submitter
GABA aminotransaminase deficiency
ABAT p.Ile396Val Conflicting Single submitter
GABA aminotransaminase deficiency
ABAT p.Leu391Ser Conflicting Single submitter
GABA aminotransaminase deficiency
ABAT p.Thr335Met Conflicting Single submitter
GABA aminotransaminase deficiency

Predictors lean, ClinVar uncertain 120

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

ABAT p.Ala162Thr Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Ala226Val Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Ala411Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Ala414Val Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Ala70Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Arg180Trp Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Arg250Gln Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Arg313Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Arg401Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Arg425Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Cys321Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Gln15His Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Gln15Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Glu257Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Glu298Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Glu69Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.His483Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Ile277Thr Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Ile64Val Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Phe258Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Phe442Leu Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Ser165Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Ser230Cys Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Ser55Pro Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Thr196Met Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Thr228Met Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Val22Leu Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Val395Ile Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Ala111Asp Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala111Thr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala122Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala171Thr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala202Ser Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala216Thr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala232Pro Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala246Pro Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala246Thr Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Ala350Glu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala424Thr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala457Thr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala457Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala7Thr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg144Gln Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg184Gly Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Arg187Thr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg281Gln Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg377Gln Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg377Trp Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg450Trp Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg473Cys Uncertain significance Single submitter
ABAT p.Arg473His Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg475Cys Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg475His Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asn168Asp Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asn76Asp Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asp207Asn Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asp306Asn Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asp306Glu Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Asp36Asn Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asp36Glu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asp385Tyr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asp403Asn Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asp443His Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asp446Asn Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asp469Glu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asp498Asn Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Cys197Ser Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Cys269Tyr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Cys75Phe Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Glu327Lys Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Glu57Ala Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Glu78Lys Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Gly106Asp Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Gly188Ala Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Gly24Arg Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Gly289Arg Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Gly320Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Gly333Arg Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.His27Asn Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.His72Asn Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ile236Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ile449Leu Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Ile449Thr Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Ile449Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ile456Thr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ile456Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Leu20Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Leu21Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Leu383Gln Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Leu390Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Leu455Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Lys153Arg Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Lys231Asn Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Lys34Asn Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Met124Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Met161Arg Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Met177Ile Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Met353Arg Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Met353Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Met360Ile Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Met93Ile Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Phe14Leu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Phe364Leu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Phe429Leu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Pro23His Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Pro244Leu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Pro254Leu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ser108Asn Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ser146Phe Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ser25Cys Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ser493Thr Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Ser98Phe Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Thr228Arg Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Thr477Ala Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Thr477Met Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Trp339Arg Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Tyr179Asn Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Val37Ala Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Val37Gly Uncertain significance Single submitter
ABAT p.Val463Met Uncertain significance Single submitter
GABA aminotransaminase deficiency

Predictors split 111

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

ABAT p.Arg19His Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Arg19Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Arg317Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Arg9Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Gln428Glu Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Glu261Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Gly215Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Gly345Asp Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Leu5Trp Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Lys452Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Pro386Leu Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Pro53Leu Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Ser149Leu Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Ser181Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Val140Ala Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Val352Met Uncertain significance Multiple submitters
GABA aminotransaminase deficiency
ABAT p.Val37Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ABAT p.Ala151Thr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala226Gly Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala31Asp Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Ala322Thr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala340Thr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala485Gly Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ala485Thr Uncertain significance Single submitter
ABAT p.Ala485Val Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Arg144Leu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg144Trp Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg180Gln Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg19Cys Conflicting Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg19Leu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg250Gly Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg250Leu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg250Trp Likely benign Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg268His Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg26Thr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg281Leu Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Arg281Trp Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg310Gln Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg310Trp Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg425Leu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg425Trp Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg436Gln Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg450Gln Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Arg9His Conflicting Single submitter
GABA aminotransaminase deficiency
ABAT p.Asn168Ser Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asn380Ser Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asn407Lys Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Asn451Lys Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asn67Tyr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asp347Asn Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asp385Glu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asp403Gly Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Asp443Asn Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Gln145Leu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Gln191Leu Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Glu195Gln Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Glu257Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Glu261Gln Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Glu261Lys Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Glu79Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Gly345Ser Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Gly90Ser Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.His16Tyr Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.His319Gln Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.His343Gln Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.His343Tyr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ile105Thr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ile245Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ile291Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ile398Leu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Leu147Phe Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Leu148Phe Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Leu324Phe Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Leu346Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Leu487Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Lys282Glu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Lys311Asn Uncertain significance Single submitter
ABAT p.Lys388Arg Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Lys400Asn Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Lys413Arg Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Lys413Asn Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Lys500Glu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Met177Leu Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Met198Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Met222Thr Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Met359Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Phe442Val Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Phe474Cys Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Pro104Ala Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Pro110Ser Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Pro206Ser Uncertain significance Single submitter
ABAT p.Pro247Leu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Pro349Ser Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Pro445Ser Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ser149Trp Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ser209Asn Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ser209Gly Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Ser3Tyr Uncertain significance Single submitter
ABAT p.Ser471Cys Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Thr227Ser Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Thr286Met Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Thr361Ser Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Thr444Asn Uncertain significance Single submitter
ABAT p.Thr48Met Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Tyr41Ser Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Val103Phe Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Val22Glu Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Val292Met Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Val325Leu Uncertain significance Single submitter
Inborn genetic diseases
ABAT p.Val462Met Uncertain significance Single submitter
GABA aminotransaminase deficiency
ABAT p.Val479Phe Uncertain significance Single submitter
GABA aminotransaminase deficiency

All ABAT variants

Pathogenic 17

c.168+1G>A Multiple submitters GABA aminotransaminase deficiency
c.199-?_316+?del Single submitter GABA aminotransaminase deficiency
p.Arg220fs Single submitter GABA aminotransaminase deficiency
p.Arg220Lys Single submitter GABA aminotransaminase deficiency
p.Arg92Ter Single submitter GABA aminotransaminase deficiency
p.Asn127fs Single submitter GABA aminotransaminase deficiency
p.Gly465Arg Single submitter GABA aminotransaminase deficiency
p.Leu276_Ile277insTer Single submitter GABA aminotransaminase deficiency
p.Leu478Pro Single submitter GABA aminotransaminase deficiency
p.Phe213Cys Single submitter GABA aminotransaminase deficiency
p.Pro136fs Single submitter GABA aminotransaminase deficiency
p.Pro152Ser Single submitter GABA aminotransaminase deficiency
p.Trp344Ter Single submitter GABA aminotransaminase deficiency
p.Trp382Ter Single submitter GABA aminotransaminase deficiency
c.199_316del No assertion criteria GABA aminotransaminase deficiency
c.817-2A>G No assertion criteria GABA aminotransaminase deficiency
p.Leu487Pro No assertion criteria GABA aminotransaminase deficiency

Pathogenic/Likely pathogenic 4

p.Arg92Gln Multiple submitters GABA aminotransaminase deficiency ⚠
p.Gln8Ter Multiple submitters GABA aminotransaminase deficiency
p.Leu211Phe Multiple submitters Inborn genetic diseases
p.Tyr376Ter Multiple submitters GABA aminotransaminase deficiency

Likely pathogenic 21

c.1123-1G>A Single submitter GABA aminotransaminase deficiency
c.(168+1_169-1 Single submitter GABA aminotransaminase deficiency
c.169-2A>G Single submitter GABA aminotransaminase deficiency
c.199-2A>C Single submitter GABA aminotransaminase deficiency
c.317-2A>G Single submitter GABA aminotransaminase deficiency
c.540+2T>G Single submitter GABA aminotransaminase deficiency
c.603+1G>A Single submitter GABA aminotransaminase deficiency
c.604-1G>A Single submitter GABA aminotransaminase deficiency
c.668-2A>C Single submitter GABA aminotransaminase deficiency
c.817-1G>T Single submitter GABA aminotransaminase deficiency
p.Ala2fs Single submitter GABA aminotransaminase deficiency
p.Arg432_Val433insTer Single submitter GABA aminotransaminase deficiency
p.Asp237Asn Single submitter
p.Cys205Ter Single submitter GABA aminotransaminase deficiency
p.Gln191Ter Single submitter GABA aminotransaminase deficiency
p.Gln61Ter Single submitter GABA aminotransaminase deficiency
p.Glu49Ter Single submitter GABA aminotransaminase deficiency
p.Gly289fs Single submitter GABA aminotransaminase deficiency
p.Gly331Arg Single submitter
p.Lys367fs Single submitter GABA aminotransaminase deficiency
p.Tyr426Ter No assertion criteria ABAT-related disorder

Conflicting classifications of pathogenicity 30

c.1123-14G>A Single submitter GABA aminotransaminase deficiency
c.1123-15C>T Single submitter GABA aminotransaminase deficiency
c.168+13C>T Single submitter GABA aminotransaminase deficiency
c.169-6C>T Single submitter GABA aminotransaminase deficiency
c.317-5C>G Single submitter GABA aminotransaminase deficiency
c.816+19G>A Single submitter GABA aminotransaminase deficiency
c.*2884T>C Single submitter GABA aminotransaminase deficiency
p.Ala162= Single submitter GABA aminotransaminase deficiency
p.Ala226= Single submitter GABA aminotransaminase deficiency
p.Ala288= Single submitter GABA aminotransaminase deficiency
p.Arg187Ser Single submitter GABA aminotransaminase deficiency ⚠
p.Arg19Cys Single submitter GABA aminotransaminase deficiency ⚠
p.Arg436Ter Single submitter GABA aminotransaminase deficiency
p.Arg9His Single submitter GABA aminotransaminase deficiency ⚠
p.Asn380= Single submitter GABA aminotransaminase deficiency
p.Asp326= Single submitter GABA aminotransaminase deficiency
p.Asp95= Single submitter GABA aminotransaminase deficiency
p.Gly185= Single submitter GABA aminotransaminase deficiency
p.Gly215= Single submitter GABA aminotransaminase deficiency
p.Gly333= Single submitter GABA aminotransaminase deficiency
p.Gly465Asp Single submitter GABA aminotransaminase deficiency ⚠
p.Ile236= Single submitter GABA aminotransaminase deficiency
p.Ile396Val Single submitter GABA aminotransaminase deficiency ⚠
p.Leu391Ser Single submitter GABA aminotransaminase deficiency ⚠
p.Pro129= Single submitter GABA aminotransaminase deficiency
p.Ser149= Single submitter Inborn genetic diseases
p.Thr335Met Single submitter GABA aminotransaminase deficiency ⚠
p.Thr477= Single submitter GABA aminotransaminase deficiency
p.Tyr77Ter Single submitter GABA aminotransaminase deficiency
p.Val463= Single submitter GABA aminotransaminase deficiency

Benign 64

c.1269+4A>C Multiple submitters GABA aminotransaminase deficiency
c.1270-4A>G Multiple submitters GABA aminotransaminase deficiency
c.1381+46C>T Multiple submitters GABA aminotransaminase deficiency
c.1381+9T>C Multiple submitters GABA aminotransaminase deficiency
c.168+12A>G Multiple submitters GABA aminotransaminase deficiency
c.169-5T>C Multiple submitters GABA aminotransaminase deficiency
c.366+104C>T Multiple submitters GABA aminotransaminase deficiency
c.366+10G>A Multiple submitters GABA aminotransaminase deficiency
c.366+11G>T Multiple submitters GABA aminotransaminase deficiency
c.448-15T>A Multiple submitters GABA aminotransaminase deficiency
c.667+99C>T Multiple submitters GABA aminotransaminase deficiency
c.668-90T>C Multiple submitters GABA aminotransaminase deficiency
c.70+49T>C Multiple submitters GABA aminotransaminase deficiency
c.816+7C>A Multiple submitters GABA aminotransaminase deficiency
c.817-6A>G Multiple submitters GABA aminotransaminase deficiency
c.*1131G>A Multiple submitters GABA aminotransaminase deficiency
c.*1210T>C Multiple submitters GABA aminotransaminase deficiency
c.*1333A>G Multiple submitters GABA aminotransaminase deficiency
c.*1405C>T Multiple submitters GABA aminotransaminase deficiency
c.*1558G>A Multiple submitters GABA aminotransaminase deficiency
c.*1575A>G Multiple submitters GABA aminotransaminase deficiency
c.*1593T>A Multiple submitters GABA aminotransaminase deficiency
c.*165A>T Multiple submitters GABA aminotransaminase deficiency
c.*1933T>C Multiple submitters GABA aminotransaminase deficiency
c.*204A>G Multiple submitters GABA aminotransaminase deficiency
c.*2114G>A Multiple submitters GABA aminotransaminase deficiency
c.*2304T>A Multiple submitters GABA aminotransaminase deficiency
c.*242G>T Multiple submitters GABA aminotransaminase deficiency
c.*244C>A Multiple submitters GABA aminotransaminase deficiency
c.*2545C>T Multiple submitters GABA aminotransaminase deficiency
c.*2567C>G Multiple submitters GABA aminotransaminase deficiency
c.*258G>C Multiple submitters GABA aminotransaminase deficiency
c.*298C>T Multiple submitters GABA aminotransaminase deficiency
c.*32G>A Multiple submitters GABA aminotransaminase deficiency
c.*476T>C Multiple submitters GABA aminotransaminase deficiency
c.*512G>A Multiple submitters GABA aminotransaminase deficiency
c.*571A>C Multiple submitters GABA aminotransaminase deficiency
c.*574A>G Multiple submitters GABA aminotransaminase deficiency
c.*915C>G Multiple submitters GABA aminotransaminase deficiency
c.*990G>C Multiple submitters GABA aminotransaminase deficiency
c.*99G>C Multiple submitters GABA aminotransaminase deficiency
p.Gln56Arg Multiple submitters GABA aminotransaminase deficiency
p.Gly43= Multiple submitters GABA aminotransaminase deficiency
p.His484= Multiple submitters GABA aminotransaminase deficiency
p.Leu383= Multiple submitters GABA aminotransaminase deficiency
p.Thr228= Multiple submitters GABA aminotransaminase deficiency
p.Val103= Multiple submitters GABA aminotransaminase deficiency
p.Val328= Multiple submitters GABA aminotransaminase deficiency
c.1382-119GATG[6] Single submitter GABA aminotransaminase deficiency
c.448-20G>A Single submitter GABA aminotransaminase deficiency
c.540+14CA[13] Single submitter GABA aminotransaminase deficiency
c.667+120del Single submitter GABA aminotransaminase deficiency
c.70+9del Single submitter GABA aminotransaminase deficiency
c.70+9dup Single submitter GABA aminotransaminase deficiency
c.816+18C>T Single submitter GABA aminotransaminase deficiency
c.817-13dup Single submitter GABA aminotransaminase deficiency
c.*1133G>A Single submitter GABA aminotransaminase deficiency
c.*1501A>G Single submitter GABA aminotransaminase deficiency
c.*1819G>A Single submitter GABA aminotransaminase deficiency
c.*2744G>C Single submitter GABA aminotransaminase deficiency
c.*2986T>C Single submitter GABA aminotransaminase deficiency
c.*318T>C Single submitter GABA aminotransaminase deficiency
c.*31C>T Single submitter GABA aminotransaminase deficiency
p.Tyr426= Single submitter GABA aminotransaminase deficiency

Benign/Likely benign 7

c.540+14CA[10] Multiple submitters GABA aminotransaminase deficiency
c.540+14CA[12] Multiple submitters GABA aminotransaminase deficiency
c.603+3G>A Multiple submitters GABA aminotransaminase deficiency
c.954+16C>T Multiple submitters GABA aminotransaminase deficiency
p.Asp89= Multiple submitters GABA aminotransaminase deficiency
p.Leu10= Multiple submitters GABA aminotransaminase deficiency
p.Met214Thr Multiple submitters GABA aminotransaminase deficiency

Likely benign 304

Showing the top 300 by review status; the full set is in the sitemap.

c.541-10A>G Multiple submitters GABA aminotransaminase deficiency
p.Ala411= Multiple submitters GABA aminotransaminase deficiency
p.Asn170= Multiple submitters GABA aminotransaminase deficiency
p.Ile210= Multiple submitters GABA aminotransaminase deficiency
p.Ile315= Multiple submitters GABA aminotransaminase deficiency
p.Pro110= Multiple submitters GABA aminotransaminase deficiency
p.Thr330= Multiple submitters GABA aminotransaminase deficiency
c.1122+11G>C Single submitter GABA aminotransaminase deficiency
c.1122+12C>T Single submitter GABA aminotransaminase deficiency
c.1123-14G>C Single submitter GABA aminotransaminase deficiency
c.1123-14G>T Single submitter GABA aminotransaminase deficiency
c.1123-15C>G Single submitter GABA aminotransaminase deficiency
c.1123-18A>G Single submitter GABA aminotransaminase deficiency
c.1123-20A>C Single submitter GABA aminotransaminase deficiency
c.1123-7A>C Single submitter GABA aminotransaminase deficiency
c.1269+12T>A Single submitter GABA aminotransaminase deficiency
c.1269+18G>A Single submitter GABA aminotransaminase deficiency
c.1269+20C>G Single submitter GABA aminotransaminase deficiency
c.1269+20C>T Single submitter GABA aminotransaminase deficiency
c.1269+22del Single submitter GABA aminotransaminase deficiency
c.1269+7C>T Single submitter GABA aminotransaminase deficiency
c.1269+9C>G Single submitter GABA aminotransaminase deficiency
c.1270-11T>C Single submitter GABA aminotransaminase deficiency
c.1270-13C>T Single submitter GABA aminotransaminase deficiency
c.1270-14T>C Single submitter GABA aminotransaminase deficiency
c.1270-17G>T Single submitter GABA aminotransaminase deficiency
c.1270-18T>C Single submitter GABA aminotransaminase deficiency
c.1270-19T>G Single submitter GABA aminotransaminase deficiency
c.1381+18G>A Single submitter GABA aminotransaminase deficiency
c.1382-10C>T Single submitter GABA aminotransaminase deficiency
c.1382-11G>C Single submitter GABA aminotransaminase deficiency
c.1382-16C>T Single submitter GABA aminotransaminase deficiency
c.1382-4T>G Single submitter GABA aminotransaminase deficiency
c.1382-9C>T Single submitter GABA aminotransaminase deficiency
c.168+18G>C Single submitter GABA aminotransaminase deficiency
c.168+19A>T Single submitter GABA aminotransaminase deficiency
c.168+20G>T Single submitter GABA aminotransaminase deficiency
c.169-10T>C Single submitter GABA aminotransaminase deficiency
c.169-13T>A Single submitter GABA aminotransaminase deficiency
c.169-14_169-12del Single submitter GABA aminotransaminase deficiency
c.169-14G>A Single submitter GABA aminotransaminase deficiency
c.169-17G>A Single submitter GABA aminotransaminase deficiency
c.169-5_169-4inv Single submitter GABA aminotransaminase deficiency
c.169-8G>C Single submitter GABA aminotransaminase deficiency
c.198+10G>A Single submitter GABA aminotransaminase deficiency
c.198+16G>A Single submitter GABA aminotransaminase deficiency
c.198+17T>C Single submitter GABA aminotransaminase deficiency
c.198+23_198+27del Single submitter GABA aminotransaminase deficiency
c.198+7G>A Single submitter GABA aminotransaminase deficiency
c.198+9_198+10insT Single submitter GABA aminotransaminase deficiency
c.199-13T>C Single submitter GABA aminotransaminase deficiency
c.199-18G>A Single submitter GABA aminotransaminase deficiency
c.199-19G>A Single submitter GABA aminotransaminase deficiency
c.199-19G>T Single submitter GABA aminotransaminase deficiency
c.199-6T>C Single submitter GABA aminotransaminase deficiency
c.199-7C>T Single submitter GABA aminotransaminase deficiency
c.199-9T>A Single submitter GABA aminotransaminase deficiency
c.316+12G>C Single submitter GABA aminotransaminase deficiency
c.316+15A>G Single submitter GABA aminotransaminase deficiency
c.316+19T>C Single submitter GABA aminotransaminase deficiency
c.316+7G>C Single submitter GABA aminotransaminase deficiency
c.316+9T>C Single submitter GABA aminotransaminase deficiency
c.317-11C>G Single submitter GABA aminotransaminase deficiency
c.317-11C>T Single submitter GABA aminotransaminase deficiency
c.317-15C>T Single submitter GABA aminotransaminase deficiency
c.317-18A>G Single submitter GABA aminotransaminase deficiency
c.317-18dup Single submitter GABA aminotransaminase deficiency
c.317-5C>T Single submitter GABA aminotransaminase deficiency
c.317-7C>T Single submitter GABA aminotransaminase deficiency
c.317-8G>C Single submitter GABA aminotransaminase deficiency
c.366+13G>A Single submitter GABA aminotransaminase deficiency
c.366+13G>T Single submitter GABA aminotransaminase deficiency
c.366+19C>A Single submitter GABA aminotransaminase deficiency
c.367-11C>A Single submitter GABA aminotransaminase deficiency
c.367-11C>T Single submitter GABA aminotransaminase deficiency
c.367-15C>G Single submitter GABA aminotransaminase deficiency
c.367-9C>T Single submitter GABA aminotransaminase deficiency
c.447+12A>T Single submitter GABA aminotransaminase deficiency
c.447+13G>A Single submitter GABA aminotransaminase deficiency
c.447+15A>G Single submitter GABA aminotransaminase deficiency
c.447+17C>A Single submitter GABA aminotransaminase deficiency
c.447+17C>T Single submitter GABA aminotransaminase deficiency
c.447+20T>A Single submitter GABA aminotransaminase deficiency
c.448-10C>A Single submitter GABA aminotransaminase deficiency
c.448-11C>G Single submitter GABA aminotransaminase deficiency
c.448-11C>T Single submitter GABA aminotransaminase deficiency
c.448-18C>A Single submitter GABA aminotransaminase deficiency
c.448-18C>T Single submitter GABA aminotransaminase deficiency
c.448-5C>A Single submitter GABA aminotransaminase deficiency
c.448-5C>G Single submitter GABA aminotransaminase deficiency
c.448-5C>T Single submitter GABA aminotransaminase deficiency
c.540+13_540+14dup Single submitter GABA aminotransaminase deficiency
c.540+14C>G Single submitter GABA aminotransaminase deficiency
c.540+14CA[14] Single submitter GABA aminotransaminase deficiency
c.540+14CA[15] Single submitter GABA aminotransaminase deficiency
c.540+14CA[16] Single submitter GABA aminotransaminase deficiency
c.540+14CA[6] Single submitter GABA aminotransaminase deficiency
c.540+14CA[7] Single submitter GABA aminotransaminase deficiency
c.540+14CA[8] Single submitter GABA aminotransaminase deficiency
c.540+14CA[9] Single submitter GABA aminotransaminase deficiency
c.540+15A>G Single submitter GABA aminotransaminase deficiency
c.540+16C>A Single submitter GABA aminotransaminase deficiency
c.540+17A>G Single submitter GABA aminotransaminase deficiency
c.540+7T>C Single submitter GABA aminotransaminase deficiency
c.540+8T>C Single submitter GABA aminotransaminase deficiency
c.540+9T>C Single submitter GABA aminotransaminase deficiency
c.541-12C>G Single submitter GABA aminotransaminase deficiency
c.541-15G>C Single submitter GABA aminotransaminase deficiency
c.541-5T>C Single submitter GABA aminotransaminase deficiency
c.541-9T>C Single submitter GABA aminotransaminase deficiency
c.603+15G>C Single submitter GABA aminotransaminase deficiency
c.603+19G>A Single submitter GABA aminotransaminase deficiency
c.604-17A>T Single submitter GABA aminotransaminase deficiency
c.604-18G>C Single submitter GABA aminotransaminase deficiency
c.604-6T>A Single submitter GABA aminotransaminase deficiency
c.604-7G>A Single submitter GABA aminotransaminase deficiency
c.667+13C>T Single submitter GABA aminotransaminase deficiency
c.667+14A>G Single submitter GABA aminotransaminase deficiency
c.667+15T>C Single submitter GABA aminotransaminase deficiency
c.667+15T>G Single submitter GABA aminotransaminase deficiency
c.667+18C>T Single submitter GABA aminotransaminase deficiency
c.667+19G>A Single submitter GABA aminotransaminase deficiency
c.667+20C>T Single submitter GABA aminotransaminase deficiency
c.667+7_667+8dup Single submitter GABA aminotransaminase deficiency
c.667+7A>C Single submitter GABA aminotransaminase deficiency
c.70+10G>A Single submitter GABA aminotransaminase deficiency
c.70+11G>T Single submitter GABA aminotransaminase deficiency
c.70+12G>A Single submitter GABA aminotransaminase deficiency
c.70+13G>C Single submitter GABA aminotransaminase deficiency
c.70+13G>T Single submitter GABA aminotransaminase deficiency
c.70+14G>A Single submitter GABA aminotransaminase deficiency
c.70+16C>T Single submitter GABA aminotransaminase deficiency
c.70+18T>G Single submitter GABA aminotransaminase deficiency
c.70+20A>C Single submitter GABA aminotransaminase deficiency
c.70+7C>T Single submitter GABA aminotransaminase deficiency
c.70+9C>G Single submitter GABA aminotransaminase deficiency
c.70+9C>T Single submitter GABA aminotransaminase deficiency
c.71-10T>C Single submitter GABA aminotransaminase deficiency
c.71-12del Single submitter GABA aminotransaminase deficiency
c.71-15C>T Single submitter GABA aminotransaminase deficiency
c.71-19T>C Single submitter GABA aminotransaminase deficiency
c.71-4G>A Single submitter GABA aminotransaminase deficiency
c.71-6C>A Single submitter GABA aminotransaminase deficiency
c.816+12A>G Single submitter GABA aminotransaminase deficiency
c.816+16T>C Single submitter GABA aminotransaminase deficiency
c.816+18C>A Single submitter GABA aminotransaminase deficiency
c.816+20G>A Single submitter GABA aminotransaminase deficiency
c.816+9C>G Single submitter GABA aminotransaminase deficiency
c.816+9C>T Single submitter GABA aminotransaminase deficiency
c.817-13C>T Single submitter GABA aminotransaminase deficiency
c.817-15C>A Single submitter GABA aminotransaminase deficiency
c.817-16C>T Single submitter GABA aminotransaminase deficiency
c.817-18_817-17del Single submitter GABA aminotransaminase deficiency
c.817-20C>T Single submitter GABA aminotransaminase deficiency
c.817-5T>A Single submitter GABA aminotransaminase deficiency
c.954+10C>G Single submitter GABA aminotransaminase deficiency
c.954+12G>A Single submitter GABA aminotransaminase deficiency
c.954+13G>T Single submitter GABA aminotransaminase deficiency
c.954+14G>A Single submitter GABA aminotransaminase deficiency
c.954+15C>A Single submitter GABA aminotransaminase deficiency
c.954+15C>T Single submitter GABA aminotransaminase deficiency
c.954+17G>A Single submitter GABA aminotransaminase deficiency
c.954+8G>A Single submitter GABA aminotransaminase deficiency
c.955-13C>A Single submitter GABA aminotransaminase deficiency
c.955-14T>G Single submitter GABA aminotransaminase deficiency
c.955-15C>T Single submitter GABA aminotransaminase deficiency
c.955-19C>T Single submitter GABA aminotransaminase deficiency
c.955-4C>G Single submitter GABA aminotransaminase deficiency
c.955-7C>T Single submitter GABA aminotransaminase deficiency
c.955-8C>A Single submitter GABA aminotransaminase deficiency
c.*1075C>T Single submitter GABA aminotransaminase deficiency
c.*1202G>A Single submitter GABA aminotransaminase deficiency
c.*1311C>A Single submitter GABA aminotransaminase deficiency
c.*2074A>C Single submitter GABA aminotransaminase deficiency
c.*2629G>A Single submitter GABA aminotransaminase deficiency
c.*539C>T Single submitter GABA aminotransaminase deficiency
c.*989T>C Single submitter GABA aminotransaminase deficiency
p.Ala171= Single submitter GABA aminotransaminase deficiency
p.Ala202= Single submitter GABA aminotransaminase deficiency
p.Ala216= Single submitter GABA aminotransaminase deficiency
p.Ala267= Single submitter GABA aminotransaminase deficiency
p.Ala32= Single submitter GABA aminotransaminase deficiency
p.Ala340= Single submitter
p.Ala409= Single submitter GABA aminotransaminase deficiency
p.Ala497= Single submitter GABA aminotransaminase deficiency
p.Arg144= Single submitter GABA aminotransaminase deficiency
p.Arg19= Single submitter GABA aminotransaminase deficiency
p.Arg220= Single submitter GABA aminotransaminase deficiency
p.Arg250= Single submitter GABA aminotransaminase deficiency
p.Arg250Trp Single submitter GABA aminotransaminase deficiency ⚠
p.Arg310= Single submitter GABA aminotransaminase deficiency
p.Arg371= Single submitter GABA aminotransaminase deficiency
p.Arg432= Single submitter GABA aminotransaminase deficiency
p.Arg458= Single submitter GABA aminotransaminase deficiency
p.Arg475= Single submitter GABA aminotransaminase deficiency
p.Asn127= Single submitter GABA aminotransaminase deficiency
p.Asn302= Single submitter GABA aminotransaminase deficiency
p.Asn397= Single submitter GABA aminotransaminase deficiency
p.Asn76= Single submitter GABA aminotransaminase deficiency
p.Asn83= Single submitter GABA aminotransaminase deficiency
p.Asp351= Single submitter GABA aminotransaminase deficiency
p.Asp36= Single submitter GABA aminotransaminase deficiency
p.Asp446= Single submitter GABA aminotransaminase deficiency
p.Asp87= Single submitter GABA aminotransaminase deficiency
p.Cys12= Single submitter GABA aminotransaminase deficiency
p.Cys163= Single submitter GABA aminotransaminase deficiency
p.Cys205= Single submitter GABA aminotransaminase deficiency
p.Cys321= Single submitter GABA aminotransaminase deficiency
p.Gln15= Single submitter GABA aminotransaminase deficiency
p.Gln157= Single submitter GABA aminotransaminase deficiency
p.Gln186= Single submitter GABA aminotransaminase deficiency
p.Gln263= Single submitter GABA aminotransaminase deficiency
p.Glu195= Single submitter GABA aminotransaminase deficiency
p.Glu266= Single submitter GABA aminotransaminase deficiency
p.Glu293= Single submitter GABA aminotransaminase deficiency
p.Glu394= Single submitter GABA aminotransaminase deficiency
p.Glu78= Single submitter GABA aminotransaminase deficiency
p.Gly106= Single submitter GABA aminotransaminase deficiency
p.Gly154= Single submitter GABA aminotransaminase deficiency
p.Gly204= Single submitter GABA aminotransaminase deficiency
p.Gly219= Single submitter GABA aminotransaminase deficiency
p.Gly363= Single submitter GABA aminotransaminase deficiency
p.Gly384= Single submitter GABA aminotransaminase deficiency
p.Gly412= Single submitter
p.Gly418= Single submitter GABA aminotransaminase deficiency
p.Gly437= Single submitter GABA aminotransaminase deficiency
p.Gly52= Single submitter GABA aminotransaminase deficiency
p.His109= Single submitter GABA aminotransaminase deficiency
p.His218= Single submitter GABA aminotransaminase deficiency
p.His303= Single submitter GABA aminotransaminase deficiency
p.Ile133= Single submitter GABA aminotransaminase deficiency
p.Ile175= Single submitter GABA aminotransaminase deficiency
p.Ile245= Single submitter GABA aminotransaminase deficiency
p.Ile291= Single submitter GABA aminotransaminase deficiency
p.Ile295= Single submitter GABA aminotransaminase deficiency
p.Ile398= Single submitter GABA aminotransaminase deficiency
p.Ile430= Single submitter GABA aminotransaminase deficiency
p.Ile456= Single submitter GABA aminotransaminase deficiency
p.Leu115= Single submitter GABA aminotransaminase deficiency
p.Leu131= Single submitter GABA aminotransaminase deficiency
p.Leu143= Single submitter GABA aminotransaminase deficiency
p.Leu147= Single submitter GABA aminotransaminase deficiency
p.Leu148= Single submitter GABA aminotransaminase deficiency
p.Leu158= Single submitter GABA aminotransaminase deficiency
p.Leu172= Single submitter GABA aminotransaminase deficiency
p.Leu20= Single submitter GABA aminotransaminase deficiency
p.Leu251= Single submitter GABA aminotransaminase deficiency
p.Leu255= Single submitter GABA aminotransaminase deficiency
p.Leu312= Single submitter GABA aminotransaminase deficiency
p.Leu324= Single submitter GABA aminotransaminase deficiency
p.Leu346= Single submitter GABA aminotransaminase deficiency
p.Leu390= Single submitter GABA aminotransaminase deficiency
p.Leu404= Single submitter GABA aminotransaminase deficiency
p.Leu416= Single submitter GABA aminotransaminase deficiency
p.Leu420= Single submitter GABA aminotransaminase deficiency
p.Leu422= Single submitter GABA aminotransaminase deficiency
p.Leu45= Single submitter GABA aminotransaminase deficiency
p.Leu464= Single submitter GABA aminotransaminase deficiency
p.Leu487= Single submitter GABA aminotransaminase deficiency
p.Leu496= Single submitter GABA aminotransaminase deficiency
p.Leu5= Single submitter GABA aminotransaminase deficiency
p.Leu6= Single submitter GABA aminotransaminase deficiency
p.Leu62= Single submitter GABA aminotransaminase deficiency
p.Phe139= Single submitter GABA aminotransaminase deficiency
p.Phe379= Single submitter GABA aminotransaminase deficiency
p.Phe442= Single submitter GABA aminotransaminase deficiency
p.Pro136= Single submitter GABA aminotransaminase deficiency
p.Pro206= Single submitter GABA aminotransaminase deficiency
p.Pro244= Single submitter GABA aminotransaminase deficiency
p.Pro247= Single submitter GABA aminotransaminase deficiency
p.Pro294= Single submitter GABA aminotransaminase deficiency
p.Pro349= Single submitter GABA aminotransaminase deficiency
p.Pro375= Single submitter GABA aminotransaminase deficiency
p.Pro386= Single submitter GABA aminotransaminase deficiency
p.Pro427= Single submitter GABA aminotransaminase deficiency
p.Pro51= Single submitter GABA aminotransaminase deficiency
p.Ser101= Single submitter GABA aminotransaminase deficiency
p.Ser13= Single submitter GABA aminotransaminase deficiency
p.Ser167= Single submitter GABA aminotransaminase deficiency
p.Ser297= Single submitter GABA aminotransaminase deficiency
p.Ser305= Single submitter GABA aminotransaminase deficiency
p.Ser431= Single submitter GABA aminotransaminase deficiency
p.Ser441= Single submitter GABA aminotransaminase deficiency
p.Ser448= Single submitter GABA aminotransaminase deficiency
p.Thr160= Single submitter GABA aminotransaminase deficiency
p.Thr174= Single submitter GABA aminotransaminase deficiency
p.Thr196= Single submitter GABA aminotransaminase deficiency
p.Thr286= Single submitter GABA aminotransaminase deficiency
p.Thr335= Single submitter GABA aminotransaminase deficiency
p.Thr354= Single submitter GABA aminotransaminase deficiency
p.Thr48= Single submitter GABA aminotransaminase deficiency
p.Tyr253= Single submitter GABA aminotransaminase deficiency
p.Tyr280= Single submitter GABA aminotransaminase deficiency
p.Tyr41= Single submitter GABA aminotransaminase deficiency
p.Tyr77= Single submitter GABA aminotransaminase deficiency
p.Tyr97= Single submitter GABA aminotransaminase deficiency
p.Val126= Single submitter GABA aminotransaminase deficiency
p.Val140= Single submitter GABA aminotransaminase deficiency
p.Val22= Single submitter GABA aminotransaminase deficiency
p.Val278= Single submitter GABA aminotransaminase deficiency

Uncertain significance 305

Showing the top 300 by review status; the full set is in the sitemap.

c.1381+6G>T Multiple submitters GABA aminotransaminase deficiency
p.Ala162Thr Multiple submitters GABA aminotransaminase deficiency ⚠
p.Ala226Val Multiple submitters GABA aminotransaminase deficiency ⚠
p.Ala411Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala414Val Multiple submitters GABA aminotransaminase deficiency ⚠
p.Ala70Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg180Trp Multiple submitters GABA aminotransaminase deficiency ⚠
p.Arg19His Multiple submitters GABA aminotransaminase deficiency ⚠
p.Arg19Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg250Gln Multiple submitters GABA aminotransaminase deficiency ⚠
p.Arg313Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg317Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg401Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg425Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg9Cys Multiple submitters Inborn genetic diseases ⚠
p.Cys321Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln15His Multiple submitters Inborn genetic diseases ⚠
p.Gln15Leu Multiple submitters Inborn genetic diseases ⚠
p.Gln428Glu Multiple submitters GABA aminotransaminase deficiency ⚠
p.Glu257Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu261Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu298Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu69Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly215Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly345Asp Multiple submitters GABA aminotransaminase deficiency ⚠
p.His483Gln Multiple submitters Inborn genetic diseases ⚠
p.Ile277Thr Multiple submitters GABA aminotransaminase deficiency ⚠
p.Ile64Val Multiple submitters GABA aminotransaminase deficiency ⚠
p.Leu5Trp Multiple submitters GABA aminotransaminase deficiency ⚠
p.Lys452Asn Multiple submitters Inborn genetic diseases ⚠
p.Phe258Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe442Leu Multiple submitters GABA aminotransaminase deficiency ⚠
p.Pro386Leu Multiple submitters GABA aminotransaminase deficiency ⚠
p.Pro53Leu Multiple submitters GABA aminotransaminase deficiency ⚠
p.Ser149Leu Multiple submitters GABA aminotransaminase deficiency ⚠
p.Ser165Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser181Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser230Cys Multiple submitters GABA aminotransaminase deficiency ⚠
p.Ser55Pro Multiple submitters GABA aminotransaminase deficiency ⚠
p.Ter501LysextTer? Multiple submitters GABA aminotransaminase deficiency
p.Thr196Met Multiple submitters GABA aminotransaminase deficiency ⚠
p.Thr228Met Multiple submitters Inborn genetic diseases ⚠
p.Val140Ala Multiple submitters GABA aminotransaminase deficiency ⚠
p.Val22Leu Multiple submitters GABA aminotransaminase deficiency ⚠
p.Val352Met Multiple submitters GABA aminotransaminase deficiency ⚠
p.Val37Ile Multiple submitters Inborn genetic diseases ⚠
p.Val395Ile Multiple submitters GABA aminotransaminase deficiency ⚠
c.1269+6A>G Single submitter GABA aminotransaminase deficiency
c.1381+1G>T Single submitter GABA aminotransaminase deficiency
c.1381+6G>A Single submitter GABA aminotransaminase deficiency
c.168+3G>A Single submitter GABA aminotransaminase deficiency
c.168+5G>T Single submitter GABA aminotransaminase deficiency
c.168+6T>A Single submitter GABA aminotransaminase deficiency
c.169-5T>A Single submitter GABA aminotransaminase deficiency
c.316+3A>G Single submitter GABA aminotransaminase deficiency
c.367-3C>T Single submitter GABA aminotransaminase deficiency
c.540+5G>T Single submitter GABA aminotransaminase deficiency
c.603+6T>G Single submitter GABA aminotransaminase deficiency
c.668-3C>T Single submitter GABA aminotransaminase deficiency
c.70+6C>A Single submitter GABA aminotransaminase deficiency
c.-107G>A Single submitter GABA aminotransaminase deficiency
c.-127C>G Single submitter GABA aminotransaminase deficiency
c.-52G>T Single submitter GABA aminotransaminase deficiency
c.*1051C>T Single submitter GABA aminotransaminase deficiency
c.*1110A>C Single submitter GABA aminotransaminase deficiency
c.*1142G>T Single submitter GABA aminotransaminase deficiency
c.*1193G>T Single submitter GABA aminotransaminase deficiency
c.*1319C>G Single submitter GABA aminotransaminase deficiency
c.*1393C>T Single submitter GABA aminotransaminase deficiency
c.*1416T>A Single submitter GABA aminotransaminase deficiency
c.*1483G>T Single submitter GABA aminotransaminase deficiency
c.*1593T>C Single submitter GABA aminotransaminase deficiency
c.*1602G>A Single submitter GABA aminotransaminase deficiency
c.*1698C>G Single submitter GABA aminotransaminase deficiency
c.*1704G>C Single submitter GABA aminotransaminase deficiency
c.*1771C>G Single submitter GABA aminotransaminase deficiency
c.*1814T>C Single submitter GABA aminotransaminase deficiency
c.*1826C>T Single submitter GABA aminotransaminase deficiency
c.*1861C>A Single submitter GABA aminotransaminase deficiency
c.*1862C>T Single submitter GABA aminotransaminase deficiency
c.*1907A>G Single submitter GABA aminotransaminase deficiency
c.*1922G>A Single submitter GABA aminotransaminase deficiency
c.*1965C>T Single submitter GABA aminotransaminase deficiency
c.*1976C>A Single submitter GABA aminotransaminase deficiency
c.*1988C>T Single submitter GABA aminotransaminase deficiency
c.*2059C>A Single submitter GABA aminotransaminase deficiency
c.*2070G>C Single submitter GABA aminotransaminase deficiency
c.*2089G>A Single submitter GABA aminotransaminase deficiency
c.*2193T>G Single submitter GABA aminotransaminase deficiency
c.*2276G>C Single submitter GABA aminotransaminase deficiency
c.*2284A>C Single submitter GABA aminotransaminase deficiency
c.*2300G>A Single submitter GABA aminotransaminase deficiency
c.*2308A>G Single submitter GABA aminotransaminase deficiency
c.*2352G>C Single submitter GABA aminotransaminase deficiency
c.*259G>A Single submitter GABA aminotransaminase deficiency
c.*2642T>G Single submitter GABA aminotransaminase deficiency
c.*2698C>G Single submitter GABA aminotransaminase deficiency
c.*2712T>C Single submitter GABA aminotransaminase deficiency
c.*2749T>C Single submitter GABA aminotransaminase deficiency
c.*2783G>A Single submitter GABA aminotransaminase deficiency
c.*2794C>G Single submitter GABA aminotransaminase deficiency
c.*283T>C Single submitter GABA aminotransaminase deficiency
c.*3020A>G Single submitter GABA aminotransaminase deficiency
c.*316A>C Single submitter GABA aminotransaminase deficiency
c.*416C>T Single submitter GABA aminotransaminase deficiency
c.*426C>T Single submitter GABA aminotransaminase deficiency
c.*430C>T Single submitter GABA aminotransaminase deficiency
c.*435G>A Single submitter GABA aminotransaminase deficiency
c.*479C>T Single submitter GABA aminotransaminase deficiency
c.*493C>T Single submitter GABA aminotransaminase deficiency
c.*578G>A Single submitter GABA aminotransaminase deficiency
c.*717G>A Single submitter GABA aminotransaminase deficiency
c.*942C>T Single submitter GABA aminotransaminase deficiency
c.*959T>A Single submitter GABA aminotransaminase deficiency
p.Ala111Asp Single submitter GABA aminotransaminase deficiency ⚠
p.Ala111Thr Single submitter GABA aminotransaminase deficiency ⚠
p.Ala122= Single submitter GABA aminotransaminase deficiency
p.Ala122Val Single submitter GABA aminotransaminase deficiency ⚠
p.Ala151Thr Single submitter GABA aminotransaminase deficiency ⚠
p.Ala171Thr Single submitter GABA aminotransaminase deficiency ⚠
p.Ala202Ser Single submitter GABA aminotransaminase deficiency ⚠
p.Ala216Thr Single submitter GABA aminotransaminase deficiency ⚠
p.Ala226Gly Single submitter GABA aminotransaminase deficiency ⚠
p.Ala232Pro Single submitter GABA aminotransaminase deficiency ⚠
p.Ala246Pro Single submitter GABA aminotransaminase deficiency ⚠
p.Ala246Thr Single submitter Inborn genetic diseases ⚠
p.Ala31Asp Single submitter Inborn genetic diseases ⚠
p.Ala322Thr Single submitter GABA aminotransaminase deficiency ⚠
p.Ala340Thr Single submitter GABA aminotransaminase deficiency ⚠
p.Ala350Glu Single submitter GABA aminotransaminase deficiency ⚠
p.Ala424Thr Single submitter GABA aminotransaminase deficiency ⚠
p.Ala457Thr Single submitter GABA aminotransaminase deficiency ⚠
p.Ala457Val Single submitter GABA aminotransaminase deficiency ⚠
p.Ala485Gly Single submitter GABA aminotransaminase deficiency ⚠
p.Ala485Thr Single submitter ⚠
p.Ala485Val Single submitter Inborn genetic diseases ⚠
p.Ala7Thr Single submitter GABA aminotransaminase deficiency ⚠
p.Arg144Gln Single submitter GABA aminotransaminase deficiency ⚠
p.Arg144Leu Single submitter GABA aminotransaminase deficiency ⚠
p.Arg144Trp Single submitter GABA aminotransaminase deficiency ⚠
p.Arg180Gln Single submitter GABA aminotransaminase deficiency ⚠
p.Arg184Gly Single submitter Inborn genetic diseases ⚠
p.Arg187Thr Single submitter GABA aminotransaminase deficiency ⚠
p.Arg19Leu Single submitter GABA aminotransaminase deficiency ⚠
p.Arg250Gly Single submitter GABA aminotransaminase deficiency ⚠
p.Arg250Leu Single submitter GABA aminotransaminase deficiency ⚠
p.Arg268His Single submitter GABA aminotransaminase deficiency ⚠
p.Arg26Thr Single submitter GABA aminotransaminase deficiency ⚠
p.Arg281Gln Single submitter GABA aminotransaminase deficiency ⚠
p.Arg281Leu Single submitter Inborn genetic diseases ⚠
p.Arg281Trp Single submitter GABA aminotransaminase deficiency ⚠
p.Arg310Gln Single submitter GABA aminotransaminase deficiency ⚠
p.Arg310Trp Single submitter GABA aminotransaminase deficiency ⚠
p.Arg377Gln Single submitter GABA aminotransaminase deficiency ⚠
p.Arg377Trp Single submitter GABA aminotransaminase deficiency ⚠
p.Arg425Leu Single submitter GABA aminotransaminase deficiency ⚠
p.Arg425Trp Single submitter GABA aminotransaminase deficiency ⚠
p.Arg436Gln Single submitter GABA aminotransaminase deficiency ⚠
p.Arg450Gln Single submitter GABA aminotransaminase deficiency ⚠
p.Arg450Trp Single submitter GABA aminotransaminase deficiency ⚠
p.Arg473Cys Single submitter ⚠
p.Arg473His Single submitter GABA aminotransaminase deficiency ⚠
p.Arg475Cys Single submitter GABA aminotransaminase deficiency ⚠
p.Arg475His Single submitter GABA aminotransaminase deficiency ⚠
p.Asn168Asp Single submitter GABA aminotransaminase deficiency ⚠
p.Asn168Ser Single submitter GABA aminotransaminase deficiency ⚠
p.Asn380Ser Single submitter GABA aminotransaminase deficiency ⚠
p.Asn407Lys Single submitter Inborn genetic diseases ⚠
p.Asn451Lys Single submitter GABA aminotransaminase deficiency ⚠
p.Asn67Tyr Single submitter GABA aminotransaminase deficiency ⚠
p.Asn76Asp Single submitter GABA aminotransaminase deficiency ⚠
p.Asp207Asn Single submitter GABA aminotransaminase deficiency ⚠
p.Asp306Asn Single submitter GABA aminotransaminase deficiency ⚠
p.Asp306Glu Single submitter Inborn genetic diseases ⚠
p.Asp347Asn Single submitter GABA aminotransaminase deficiency ⚠
p.Asp36Asn Single submitter GABA aminotransaminase deficiency ⚠
p.Asp36Glu Single submitter GABA aminotransaminase deficiency ⚠
p.Asp385Glu Single submitter GABA aminotransaminase deficiency ⚠
p.Asp385Tyr Single submitter GABA aminotransaminase deficiency ⚠
p.Asp403Asn Single submitter GABA aminotransaminase deficiency ⚠
p.Asp403Gly Single submitter GABA aminotransaminase deficiency ⚠
p.Asp443Asn Single submitter GABA aminotransaminase deficiency ⚠
p.Asp443His Single submitter GABA aminotransaminase deficiency ⚠
p.Asp446Asn Single submitter GABA aminotransaminase deficiency ⚠
p.Asp469Glu Single submitter GABA aminotransaminase deficiency ⚠
p.Asp498Asn Single submitter GABA aminotransaminase deficiency ⚠
p.Cys197Ser Single submitter GABA aminotransaminase deficiency ⚠
p.Cys269Tyr Single submitter GABA aminotransaminase deficiency ⚠
p.Cys75Phe Single submitter GABA aminotransaminase deficiency ⚠
p.Gln145Leu Single submitter GABA aminotransaminase deficiency ⚠
p.Gln191Leu Single submitter Inborn genetic diseases ⚠
p.Glu195Gln Single submitter GABA aminotransaminase deficiency ⚠
p.Glu257Val Single submitter GABA aminotransaminase deficiency ⚠
p.Glu261Gln Single submitter Inborn genetic diseases ⚠
p.Glu261Lys Single submitter Inborn genetic diseases ⚠
p.Glu327Lys Single submitter GABA aminotransaminase deficiency ⚠
p.Glu57Ala Single submitter GABA aminotransaminase deficiency ⚠
p.Glu78Lys Single submitter GABA aminotransaminase deficiency ⚠
p.Glu79Val Single submitter GABA aminotransaminase deficiency ⚠
p.Gly106Asp Single submitter GABA aminotransaminase deficiency ⚠
p.Gly188Ala Single submitter GABA aminotransaminase deficiency ⚠
p.Gly24Arg Single submitter GABA aminotransaminase deficiency ⚠
p.Gly289_Ile291dup Single submitter GABA aminotransaminase deficiency
p.Gly289Arg Single submitter Inborn genetic diseases ⚠
p.Gly320Val Single submitter GABA aminotransaminase deficiency ⚠
p.Gly333Arg Single submitter GABA aminotransaminase deficiency ⚠
p.Gly345Ser Single submitter Inborn genetic diseases ⚠
p.Gly90Ser Single submitter GABA aminotransaminase deficiency ⚠
p.His16Tyr Single submitter Inborn genetic diseases ⚠
p.His27Asn Single submitter GABA aminotransaminase deficiency ⚠
p.His319Gln Single submitter GABA aminotransaminase deficiency ⚠
p.His343Gln Single submitter Inborn genetic diseases ⚠
p.His343Tyr Single submitter GABA aminotransaminase deficiency ⚠
p.His72Asn Single submitter GABA aminotransaminase deficiency ⚠
p.Ile105Thr Single submitter GABA aminotransaminase deficiency ⚠
p.Ile236Val Single submitter GABA aminotransaminase deficiency ⚠
p.Ile245Val Single submitter GABA aminotransaminase deficiency ⚠
p.Ile291Val Single submitter GABA aminotransaminase deficiency ⚠
p.Ile398Leu Single submitter GABA aminotransaminase deficiency ⚠
p.Ile449Leu Single submitter Inborn genetic diseases ⚠
p.Ile449Thr Single submitter Inborn genetic diseases ⚠
p.Ile449Val Single submitter GABA aminotransaminase deficiency ⚠
p.Ile456Thr Single submitter GABA aminotransaminase deficiency ⚠
p.Ile456Val Single submitter GABA aminotransaminase deficiency ⚠
p.Leu147Phe Single submitter GABA aminotransaminase deficiency ⚠
p.Leu148Phe Single submitter GABA aminotransaminase deficiency ⚠
p.Leu20Val Single submitter GABA aminotransaminase deficiency ⚠
p.Leu21Val Single submitter GABA aminotransaminase deficiency ⚠
p.Leu324Phe Single submitter GABA aminotransaminase deficiency ⚠
p.Leu346Val Single submitter GABA aminotransaminase deficiency ⚠
p.Leu383Gln Single submitter GABA aminotransaminase deficiency ⚠
p.Leu390Val Single submitter GABA aminotransaminase deficiency ⚠
p.Leu455Val Single submitter GABA aminotransaminase deficiency ⚠
p.Leu487Val Single submitter GABA aminotransaminase deficiency ⚠
p.Lys153Arg Single submitter GABA aminotransaminase deficiency ⚠
p.Lys231Asn Single submitter GABA aminotransaminase deficiency ⚠
p.Lys282Glu Single submitter GABA aminotransaminase deficiency ⚠
p.Lys285del Single submitter GABA aminotransaminase deficiency
p.Lys311Asn Single submitter ⚠
p.Lys34Asn Single submitter GABA aminotransaminase deficiency ⚠
p.Lys388Arg Single submitter GABA aminotransaminase deficiency ⚠
p.Lys400Asn Single submitter Inborn genetic diseases ⚠
p.Lys413Arg Single submitter GABA aminotransaminase deficiency ⚠
p.Lys413Asn Single submitter GABA aminotransaminase deficiency ⚠
p.Lys452Ter Single submitter GABA aminotransaminase deficiency
p.Lys500Glu Single submitter GABA aminotransaminase deficiency ⚠
p.Met124Val Single submitter GABA aminotransaminase deficiency ⚠
p.Met161Arg Single submitter GABA aminotransaminase deficiency ⚠
p.Met177Ile Single submitter GABA aminotransaminase deficiency ⚠
p.Met177Leu Single submitter Inborn genetic diseases ⚠
p.Met198Val Single submitter GABA aminotransaminase deficiency ⚠
p.Met1Val Single submitter GABA aminotransaminase deficiency
p.Met222Thr Single submitter GABA aminotransaminase deficiency ⚠
p.Met353Arg Single submitter GABA aminotransaminase deficiency ⚠
p.Met353Val Single submitter GABA aminotransaminase deficiency ⚠
p.Met359Val Single submitter GABA aminotransaminase deficiency ⚠
p.Met360Ile Single submitter GABA aminotransaminase deficiency ⚠
p.Met93Ile Single submitter GABA aminotransaminase deficiency ⚠
p.Phe14Leu Single submitter GABA aminotransaminase deficiency ⚠
p.Phe364Leu Single submitter GABA aminotransaminase deficiency ⚠
p.Phe429Leu Single submitter GABA aminotransaminase deficiency ⚠
p.Phe442fs Single submitter GABA aminotransaminase deficiency
p.Phe442Val Single submitter GABA aminotransaminase deficiency ⚠
p.Phe474Cys Single submitter GABA aminotransaminase deficiency ⚠
p.Pro104Ala Single submitter Inborn genetic diseases ⚠
p.Pro110Ser Single submitter GABA aminotransaminase deficiency ⚠
p.Pro206Ser Single submitter ⚠
p.Pro23His Single submitter GABA aminotransaminase deficiency ⚠
p.Pro244Leu Single submitter GABA aminotransaminase deficiency ⚠
p.Pro247Leu Single submitter GABA aminotransaminase deficiency ⚠
p.Pro254Leu Single submitter GABA aminotransaminase deficiency ⚠
p.Pro349Ser Single submitter GABA aminotransaminase deficiency ⚠
p.Pro445Ser Single submitter GABA aminotransaminase deficiency ⚠
p.Ser108Asn Single submitter GABA aminotransaminase deficiency ⚠
p.Ser146Phe Single submitter GABA aminotransaminase deficiency ⚠
p.Ser149Trp Single submitter GABA aminotransaminase deficiency ⚠
p.Ser209Asn Single submitter GABA aminotransaminase deficiency ⚠
p.Ser209Gly Single submitter GABA aminotransaminase deficiency ⚠
p.Ser25Cys Single submitter GABA aminotransaminase deficiency ⚠
p.Ser3Tyr Single submitter ⚠
p.Ser471Cys Single submitter GABA aminotransaminase deficiency ⚠
p.Ser471Thr Single submitter GABA aminotransaminase deficiency
p.Ser493Thr Single submitter Inborn genetic diseases ⚠
p.Ser98Phe Single submitter Inborn genetic diseases ⚠
p.Thr227Ser Single submitter GABA aminotransaminase deficiency ⚠
p.Thr228Arg Single submitter Inborn genetic diseases ⚠
p.Thr286Met Single submitter GABA aminotransaminase deficiency ⚠
p.Thr361Ser Single submitter GABA aminotransaminase deficiency ⚠
p.Thr444Asn Single submitter ⚠
p.Thr477Ala Single submitter GABA aminotransaminase deficiency ⚠
p.Thr477Met Single submitter GABA aminotransaminase deficiency ⚠
p.Thr48Met Single submitter GABA aminotransaminase deficiency ⚠
p.Trp339Arg Single submitter Inborn genetic diseases ⚠
p.Tyr179Asn Single submitter Inborn genetic diseases ⚠
p.Tyr41Ser Single submitter Inborn genetic diseases ⚠
p.Val103Phe Single submitter GABA aminotransaminase deficiency ⚠
p.Val22del Single submitter GABA aminotransaminase deficiency
p.Val22Glu Single submitter GABA aminotransaminase deficiency ⚠
p.Val292Met Single submitter GABA aminotransaminase deficiency ⚠
p.Val325Leu Single submitter Inborn genetic diseases ⚠