GATA4 — 1027 ClinVar variants

All ClinVar germline GATA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 492 flagged for review →

26 Pathogenic · 2 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 34 Conflicting · 48 Benign · 26 Benign/Likely benign · 344 Likely benign · 536 Uncertain significance

Full GATA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 492

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

GATA4 p.Gly64Glu Likely pathogenic Single submitter
atrioventricular septal defect 4
GATA4 p.Ser133Cys Pathogenic No assertion criteria
congenital heart disease

Predictors agree, ClinVar conflicts 15

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

GATA4 p.Arg321Gln Conflicting Single submitter
testicular anomalies with or without congenital heart disease
GATA4 p.Arg321Trp Conflicting Single submitter
atrial septal defect 2
GATA4 p.Arg363His Conflicting Single submitter
Cardiovascular phenotype
GATA4 p.Asn204Ser Conflicting Single submitter
atrioventricular septal defect 4
GATA4 p.Glu361Gln Conflicting Single submitter
Inborn genetic diseases
GATA4 p.Gly29Ser Conflicting Single submitter
Cardiovascular phenotype
GATA4 p.Gly370Val Conflicting Single submitter
atrioventricular septal defect 4
GATA4 p.Gly69Ser Conflicting Single submitter
atrioventricular septal defect 4
GATA4 p.Pro414Leu Conflicting Single submitter
atrioventricular septal defect 4
GATA4 p.Ser134Cys Conflicting Single submitter
Cardiovascular phenotype
GATA4 p.Ser378Gly Conflicting Single submitter
Cardiovascular phenotype
GATA4 p.Thr367Ser Conflicting Single submitter
atrioventricular septal defect 4
GATA4 p.Tyr411Phe Conflicting Single submitter
testicular anomalies with or without congenital heart disease
GATA4 p.Val432Gly Conflicting Single submitter
atrioventricular septal defect 4
GATA4 p.Met311Val Conflicting No assertion criteria
GATA4-related disorder

Predictors lean, ClinVar uncertain 303

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 303

GATA4 p.Ala131Gly Uncertain significance Multiple submitters
ventricular septal defect 1
GATA4 p.Ala138Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ala139Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ala155Val Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ala167Thr Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ala171Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ala196Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ala200Val Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ala264Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ala30Val Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ala32Pro Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ala32Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ala33Val Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ala344Ser Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ala344Thr Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ala344Val Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ala389Val Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ala403Asp Uncertain significance Multiple submitters
GATA4-related disorder
GATA4 p.Ala403Val Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ala59Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ala62Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ala94Thr Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ala97Val Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ala98Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Arg151Ser Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Arg253Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Arg260Cys Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Arg260His Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Arg261Gln Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Arg267Gln Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Arg312Trp Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Asn197Ile Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Asn220Ser Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Asn249Lys Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Asn325Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Asp435Asn Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Asp439Asn Uncertain significance Multiple submitters
atrial septal defect 2
GATA4 p.Gln317Glu Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gln84Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Glu214Gln Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Glu361Gly Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gly112Ala Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gly115Trp Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gly140Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Gly142Asp Uncertain significance Multiple submitters
testicular anomalies with or without congenital heart disease
GATA4 p.Gly142Val Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gly153Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Gly243Ser Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gly304Arg Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gly315Arg Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gly346Ser Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gly346Val Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gly370Ala Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gly394Glu Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gly394Val Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Gly410Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Gly58Ser Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gly69Val Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gly72Ser Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gly73Val Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gly79Val Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Gly85Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Gly88Val Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.His11Pro Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.His393Arg Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ile256Leu Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ile440Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ile440Val Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Leu244Val Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Leu262Val Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Met166Val Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Met208Lys Uncertain significance Multiple submitters
renal cysts and diabetes syndrome
GATA4 p.Met248Thr Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Pro101Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Pro15His Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Pro163Arg Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Pro193Ser Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Pro198Ser Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Pro203Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Pro227Leu Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Pro254Leu Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Pro258Leu Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Pro258Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Pro332Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Pro332Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Pro414Ala Uncertain significance Multiple submitters
atrial septal defect 2
GATA4 p.Pro42Thr Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Pro87Gln Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ser338Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ser357Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ser382Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ser402Leu Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ser90Thr Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Thr100Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Thr277Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Thr279Ile Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Thr384Met Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Thr421Asn Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Thr421Ser Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Tyr411His Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Val415Leu Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Val432Leu Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Val48Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Val48Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ala118Val Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala120Val Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala129Thr Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala129Val Uncertain significance Single submitter
GATA4 p.Ala138Val Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala139Val Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala141Val Uncertain significance Single submitter
GATA4 p.Ala144Thr Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala144Val Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala152Ser Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala152Val Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala164Gly Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala167Val Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala178Ser Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala17Pro Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala17Thr Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala181Ser Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala181Thr Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala181Val Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala196Pro Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala196Ser Uncertain significance Single submitter
GATA4 p.Ala200Thr Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala223Thr Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala241Thr Uncertain significance Single submitter
GATA4 p.Ala25Gly Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala310Pro Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala334Val Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala347Ser Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala354Asp Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala354Gly Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala354Thr Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala389Glu Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala389Thr Uncertain significance Single submitter
GATA4 p.Ala59Ser Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala66Thr Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala74Thr Uncertain significance Single submitter
GATA4 p.Ala78Ser Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala8Ser Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala92Thr Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala94Ser Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala94Val Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala97Gly Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala9Ser Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala9Thr Uncertain significance Single submitter
tetralogy of fallot
GATA4 p.Arg151Leu Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Arg195Gln Uncertain significance Single submitter
atrioventricular septal defect 4

Predictors split 172

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 172

GATA4 p.Ala138Glu Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ala164Val Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ala264Thr Uncertain significance Multiple submitters
testicular anomalies with or without congenital heart disease
GATA4 p.Ala434Gly Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ala443Val Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ala6Val Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ala74Asp Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Arg127Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Arg363Cys Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Asn10Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Asn204Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Asp211Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Asp211Tyr Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Asp426Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Asp439Tyr Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gln3Glu Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gln3Pro Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Gly12Arg Uncertain significance Multiple submitters
dilated cardiomyopathy
GATA4 p.Gly12Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Gly156Val Uncertain significance Multiple submitters
GATA4-related disorder
GATA4 p.Gly170Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Gly50Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Gly72Cys Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Leu404Met Uncertain significance Multiple submitters
GATA4-related disorder
GATA4 p.Leu5Phe Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Met208Thr Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Met311Leu Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Phe110Leu Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Phe209Ser Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Phe385Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Pro369Leu Uncertain significance Multiple submitters
GATA4 p.Pro36Ser Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Pro40Ser Uncertain significance Multiple submitters
GATA4-related disorder
GATA4 p.Pro45Leu Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ser159Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ser159Tyr Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ser379Ile Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ser396Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ser436Arg Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Ser4Asn Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Thr281Ser Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Tyr411Cys Uncertain significance Multiple submitters
atrioventricular septal defect 4
GATA4 p.Val104Met Uncertain significance Multiple submitters
Cardiovascular phenotype
GATA4 p.Ala118Glu Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala121Thr Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala123Gly Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala123Pro Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala125Val Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala141Glu Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala164Thr Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala176Val Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Ala177Thr Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala178Thr Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala178Val Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala287Thr Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala287Val Conflicting Single submitter
atrioventricular septal defect 4
GATA4 p.Ala443Glu Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ala92Glu Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Arg107Ser Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Arg127Gln Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Arg127Gly Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Arg146His Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Arg195Pro Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Arg201Gln Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Arg201Gly Uncertain significance Single submitter
GATA4 p.Arg312Gln Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Arg43Trp Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Asn204Lys Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Asn429His Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Asp185His Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Asp207Gly Uncertain significance Single submitter
tetralogy of fallot
GATA4 p.Asp210Ala Uncertain significance Single submitter
GATA4 p.Asp426Asn Conflicting Single submitter
atrioventricular septal defect 4
GATA4 p.Asp439His Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Gln148Leu Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Gln148Pro Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Gln55His Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Gln83Pro Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Gln91Pro Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Glu19Lys Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Glu360Lys Conflicting Single submitter
Male infertility with azoospermia or oligozoospermia due to single gene mutation
GATA4 p.Gly112Arg Uncertain significance Single submitter
GATA4 p.Gly115Val Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Gly140Asp Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Gly145Val Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Gly150Arg Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Gly150Glu Uncertain significance Single submitter
GATA4 p.Gly150Trp Uncertain significance Single submitter
testicular anomalies with or without congenital heart disease
GATA4 p.Gly150Val Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Gly16Cys Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Gly182Asp Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Gly194Arg Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Gly21Val Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Gly22Cys Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Gly22Val Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Gly24Arg Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Gly24Cys Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Gly29Cys Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Gly438Arg Conflicting Single submitter
atrial septal defect 2
GATA4 p.Gly50Asp Uncertain significance Single submitter
GATA4 p.Gly60Asp Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Gly69Cys Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Gly96Arg Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.His11Asn Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.His190Gln Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.His28Arg Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.His28Tyr Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ile365Thr Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ile440Arg Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ile441Ser Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Leu143Arg Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Leu192Arg Uncertain significance Single submitter
conotruncal heart malformations
GATA4 p.Leu371Arg Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Leu404Val Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Lys247Arg Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Lys324Arg Uncertain significance Single submitter
testicular anomalies with or without congenital heart disease
GATA4 p.Met224Leu Uncertain significance Single submitter
GATA4 p.Met7Leu Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Met7Val Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Phe26Val Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Pro101Leu Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Pro103Ala Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Pro103Arg Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Pro106Ala Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Pro106Arg Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Pro106Gln Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Pro111Leu Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Pro163Ser Conflicting Single submitter
Male infertility with azoospermia or oligozoospermia due to single gene mutation
GATA4 p.Pro183Leu Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Pro183Thr Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Pro187Arg Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Pro187Leu Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Pro364Arg Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Pro369Ser Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Pro369Thr Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Pro36Ala Likely benign Single submitter
atrioventricular septal defect 4
GATA4 p.Pro36Thr Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Pro408Arg Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Pro408Gln Conflicting Single submitter
testicular anomalies with or without congenital heart disease
GATA4 p.Pro40Leu Uncertain significance Single submitter
Cardiovascular phenotype
GATA4 p.Pro42Arg Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Pro87Arg Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ser105Pro Uncertain significance Single submitter
GATA4 p.Ser109Cys Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ser116Cys Uncertain significance Single submitter
GATA4 p.Ser133Arg Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ser134Arg Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ser157Cys Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ser160Arg Uncertain significance Single submitter
atrioventricular septal defect 4
GATA4 p.Ser186Arg Uncertain significance Single submitter

All GATA4 variants

Pathogenic 26

p.Arg231Ter Multiple submitters atrial septal defect 2
c.786+1G>A Single submitter atrial septal defect 2
p.Arg285His Single submitter atrioventricular septal defect 4
p.Cys296Ser Single submitter atrioventricular septal defect 4
p.Glu360Ter Single submitter atrioventricular septal defect 4
p.Gly137Ter Single submitter atrioventricular septal defect 4
p.Ile316fs Single submitter atrioventricular septal defect 4
p.Pro308Arg Single submitter atrioventricular septal defect 4
p.Trp229Ter Single submitter atrioventricular septal defect 4
p.Trp89Ter Single submitter atrioventricular septal defect 4
p.Tyr18Ter Single submitter atrioventricular septal defect 4
p.Val219fs Single submitter atrioventricular septal defect 4
c.1000+2T>G No assertion criteria congenital heart disease
c.913-55T>C No assertion criteria congenital heart disease
p.Ala8Asp No assertion criteria congenital heart disease ⚠
p.Ala9= No assertion criteria congenital heart disease
p.Glu128Val No assertion criteria congenital heart disease ⚠
p.Glu360fs No assertion criteria atrial septal defect 2
p.Gly222Arg No assertion criteria testicular anomalies with or without congenital heart disease
p.Gly297Arg No assertion criteria ventricular septal defect 1
p.Gly297Cys No assertion criteria atrial septal defect 2
p.Ser133Cys No assertion criteria congenital heart disease ⚠
p.Ser422= No assertion criteria congenital heart disease
p.Ser52Phe No assertion criteria atrial septal defect 2
p.Trp229Arg No assertion criteria congenital heart disease
p.Trp229Cys No assertion criteria 46,XY sex reversal 3

Pathogenic/Likely pathogenic 2

p.Arg284His Multiple submitters atrial septal defect 2
p.Gly297Ser Multiple submitters GATA4-related dilated cardiomyopathy

Likely pathogenic 11

p.Arg267Ter Multiple submitters atrial septal defect 2
p.Arg285_Asn286delinsHis Single submitter atrial septal defect 2
p.Arg307Thr Single submitter atrioventricular septal defect 4
p.Asn274Lys Single submitter atrial septal defect 2
p.Cys293Trp Single submitter atrioventricular septal defect 4
p.Gly112fs Single submitter GATA4-related disorder
p.Gly64Glu Single submitter atrioventricular septal defect 4 ⚠
p.Ile365fs Single submitter
p.Ser396fs Single submitter
p.Thr226Ile Single submitter Abnormal heart morphology
p.Tyr299Cys Single submitter atrial septal defect 2

Conflicting classifications of pathogenicity 34

c.786+16G>T Single submitter atrial septal defect 2
c.*1168T>C Single submitter congenital heart disease
p.Ala126dup Single submitter Cardiovascular phenotype
p.Ala287Val Single submitter atrioventricular septal defect 4 ⚠
p.Arg321Gln Single submitter testicular anomalies with or without congenital heart disease ⚠
p.Arg321Trp Single submitter atrial septal defect 2 ⚠
p.Arg363His Single submitter Cardiovascular phenotype ⚠
p.Asn204Ser Single submitter atrioventricular septal defect 4 ⚠
p.Asp426Asn Single submitter atrioventricular septal defect 4 ⚠
p.Cys275= Single submitter Cardiovascular phenotype
p.Glu314Asp Single submitter GATA4-related disorder
p.Glu360Lys Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation ⚠
p.Glu361Gln Single submitter Inborn genetic diseases ⚠
p.Gly289= Single submitter atrioventricular septal defect 4
p.Gly29Ser Single submitter Cardiovascular phenotype ⚠
p.Gly370Val Single submitter atrioventricular septal defect 4 ⚠
p.Gly438Arg Single submitter atrial septal defect 2 ⚠
p.Gly69Ser Single submitter atrioventricular septal defect 4 ⚠
p.Leu205= Single submitter atrioventricular septal defect 4
p.Pro111= Single submitter GATA4-related disorder
p.Pro163Ser Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation ⚠
p.Pro408Gln Single submitter testicular anomalies with or without congenital heart disease ⚠
p.Pro414Leu Single submitter atrioventricular septal defect 4 ⚠
p.Ser134Cys Single submitter Cardiovascular phenotype ⚠
p.Ser338del Single submitter atrioventricular septal defect 4
p.Ser378Gly Single submitter Cardiovascular phenotype ⚠
p.Thr367Ser Single submitter atrioventricular septal defect 4 ⚠
p.Tyr18_Ala25del Single submitter atrioventricular septal defect 4
p.Tyr411Phe Single submitter testicular anomalies with or without congenital heart disease ⚠
p.Val206= Single submitter atrioventricular septal defect 4
p.Val268Leu Single submitter atrioventricular septal defect 4
p.Val268Met Single submitter Cardiovascular phenotype ⚠
p.Val432Gly Single submitter atrioventricular septal defect 4 ⚠
p.Met311Val No assertion criteria GATA4-related disorder ⚠

Benign 48

c.1000+23A>T Multiple submitters
c.1001-115C>T Multiple submitters
c.1001-128T>C Multiple submitters
c.1001-131A>G Multiple submitters
c.1001-139A>T Multiple submitters
c.1001-219G>T Multiple submitters atrioventricular septal defect 4
c.1001-269G>T Multiple submitters atrioventricular septal defect 4
c.1149+177C>T Multiple submitters GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes
c.1150-107A>G Multiple submitters congenital heart disease
c.1150-63C>T Multiple submitters
c.-458+5G>A Multiple submitters
c.-543C>T Multiple submitters atrioventricular septal defect 4
c.*1158C>T Multiple submitters
c.*1256A>T Multiple submitters achondroplasia
c.*138G>C Multiple submitters
c.*1521C>G Multiple submitters atrioventricular septal defect 4
p.Asn353= Multiple submitters atrioventricular septal defect 4
p.Pro342= Multiple submitters Cardiovascular phenotype
p.Thr356Ser Multiple submitters tetralogy of fallot
c.1000+200G>A Single submitter congenital heart disease
c.1000+287A>C Single submitter
c.1000+321G>A Single submitter
c.1001-180del Single submitter
c.1149+406G>C Single submitter
c.1150-337T>C Single submitter
c.617-273C>G Single submitter
c.617-347G>C Single submitter
c.617-8del Single submitter atrioventricular septal defect 4
c.787-224G>A Single submitter
c.787-243A>G Single submitter
c.787-248T>C Single submitter
c.787-268C>T Single submitter
c.787-290C>T Single submitter
c.912+15C>T Single submitter atrioventricular septal defect 4
c.912+185C>T Single submitter
c.912+214A>G Single submitter
c.912+245G>A Single submitter
c.913-174T>C Single submitter
c.913-240C>T Single submitter
c.913-258G>A Single submitter
c.913-276G>C Single submitter
c.-457-278C>A Single submitter
c.-6+2939A>C Single submitter
c.-6+3194G>C Single submitter
c.*1355G>A Single submitter
p.Ala443= Single submitter atrioventricular septal defect 4
p.Ala75Ser Single submitter atrioventricular septal defect 4
p.Ser359Thr Single submitter atrioventricular septal defect 4

Benign/Likely benign 26

c.1000+103G>T Multiple submitters congenital heart disease
c.1000+56C>A Multiple submitters congenital heart disease
c.1001-4C>G Multiple submitters Cardiovascular phenotype
c.1149+129C>T Multiple submitters congenital heart disease
c.1150-20G>A Multiple submitters atrioventricular septal defect 4
c.617-113T>C Multiple submitters GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes
c.617-61G>C Multiple submitters congenital heart disease
c.787-16G>A Multiple submitters atrioventricular septal defect 4
c.912+25G>A Multiple submitters GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes
c.*852G>A Multiple submitters GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes
p.Ala30= Multiple submitters atrioventricular septal defect 4
p.Ala33= Multiple submitters atrioventricular septal defect 4
p.Ala347Val Multiple submitters Cardiovascular phenotype
p.Ala412Val Multiple submitters Cardiovascular phenotype
p.Ala78= Multiple submitters atrioventricular septal defect 4
p.Asp210= Multiple submitters Cardiovascular phenotype
p.Cys242= Multiple submitters Cardiovascular phenotype
p.Cys296= Multiple submitters Cardiovascular phenotype
p.Phe154= Multiple submitters Cardiovascular phenotype
p.Pro306= Multiple submitters atrioventricular septal defect 4
p.Pro395Thr Multiple submitters atrioventricular septal defect 4
p.Pro408= Multiple submitters Cardiovascular phenotype
p.Ser380= Multiple submitters Cardiovascular phenotype
p.Tyr245= Multiple submitters Cardiovascular phenotype
p.Tyr375= Multiple submitters Cardiovascular phenotype
p.Val381Met Multiple submitters atrioventricular septal defect 4

Likely benign 344

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

c.1149+20C>T Multiple submitters atrioventricular septal defect 4
c.1149+7G>A Multiple submitters atrioventricular septal defect 4
c.1150-7T>C Multiple submitters atrioventricular septal defect 4
c.616+15G>A Multiple submitters atrioventricular septal defect 4
c.616+49C>G Multiple submitters
c.787-4G>A Multiple submitters atrioventricular septal defect 4
c.-294G>T Multiple submitters
c.*9C>T Multiple submitters
p.Ala122= Multiple submitters Cardiovascular phenotype
p.Ala123= Multiple submitters atrioventricular septal defect 4
p.Ala125= Multiple submitters Cardiovascular phenotype
p.Ala141= Multiple submitters atrioventricular septal defect 4
p.Ala167= Multiple submitters Cardiovascular phenotype
p.Ala181= Multiple submitters Cardiovascular phenotype
p.Ala196= Multiple submitters Cardiovascular phenotype
p.Ala199= Multiple submitters atrioventricular septal defect 4
p.Ala310= Multiple submitters atrioventricular septal defect 4
p.Ala389= Multiple submitters Cardiovascular phenotype
p.Ala412= Multiple submitters Cardiovascular phenotype
p.Ala443Gly Multiple submitters atrioventricular septal defect 4
p.Ala59= Multiple submitters Cardiovascular phenotype
p.Arg285= Multiple submitters Cardiovascular phenotype
p.Arg312= Multiple submitters atrioventricular septal defect 4
p.Arg363= Multiple submitters Cardiovascular phenotype
p.Asn240= Multiple submitters atrioventricular septal defect 4
p.Asn249= Multiple submitters Cardiovascular phenotype
p.Gln148= Multiple submitters atrioventricular septal defect 4
p.Glu339= Multiple submitters Cardiovascular phenotype
p.Gly112= Multiple submitters atrioventricular septal defect 4
p.Gly194= Multiple submitters Cardiovascular phenotype
p.Gly215= Multiple submitters Cardiovascular phenotype
p.Gly233= Multiple submitters atrioventricular septal defect 4
p.Gly24= Multiple submitters atrioventricular septal defect 4
p.Gly376= Multiple submitters Cardiovascular phenotype
p.Gly376Arg Multiple submitters atrioventricular septal defect 4
p.Gly68= Multiple submitters Cardiovascular phenotype
p.His190= Multiple submitters Cardiovascular phenotype
p.His246= Multiple submitters atrioventricular septal defect 4
p.His28= Multiple submitters atrioventricular septal defect 4
p.His303= Multiple submitters atrioventricular septal defect 4
p.His437= Multiple submitters Cardiovascular phenotype
p.Ile256= Multiple submitters atrioventricular septal defect 4
p.Ile397= Multiple submitters Cardiovascular phenotype
p.Leu189= Multiple submitters atrioventricular septal defect 4
p.Leu244= Multiple submitters Cardiovascular phenotype
p.Leu406= Multiple submitters Cardiovascular phenotype
p.Leu5= Multiple submitters Cardiovascular phenotype
p.Lys301= Multiple submitters atrioventricular septal defect 4
p.Lys322= Multiple submitters Cardiovascular phenotype
p.Phe110= Multiple submitters Cardiovascular phenotype
p.Phe385= Multiple submitters atrioventricular septal defect 4
p.Pro101= Multiple submitters Cardiovascular phenotype
p.Pro103= Multiple submitters Cardiovascular phenotype
p.Pro14= Multiple submitters Cardiovascular phenotype
p.Pro187= Multiple submitters Cardiovascular phenotype
p.Pro203= Multiple submitters Cardiovascular phenotype
p.Pro23= Multiple submitters atrioventricular septal defect 4
p.Pro323= Multiple submitters Cardiovascular phenotype
p.Pro343= Multiple submitters Cardiovascular phenotype
p.Pro45= Multiple submitters Cardiovascular phenotype
p.Ser116= Multiple submitters Cardiovascular phenotype
p.Ser160= Multiple submitters atrioventricular septal defect 4
p.Ser172= Multiple submitters Cardiovascular phenotype
p.Ser263= Multiple submitters Cardiovascular phenotype
p.Ser336= Multiple submitters Cardiovascular phenotype
p.Ser345= Multiple submitters atrioventricular septal defect 4
p.Ser359= Multiple submitters Cardiovascular phenotype
p.Ser372= Multiple submitters atrioventricular septal defect 4
p.Ser396= Multiple submitters atrioventricular septal defect 4
p.Ser4= Multiple submitters Cardiovascular phenotype
p.Ser418= Multiple submitters atrioventricular septal defect 4
p.Ser430= Multiple submitters Cardiovascular phenotype
p.Ser47= Multiple submitters Cardiovascular phenotype
p.Ser86= Multiple submitters Cardiovascular phenotype
p.Ser90= Multiple submitters Cardiovascular phenotype
p.Thr114= Multiple submitters atrioventricular septal defect 4
p.Thr280= Multiple submitters Cardiovascular phenotype
p.Thr367= Multiple submitters Cardiovascular phenotype
p.Thr384= Multiple submitters Cardiovascular phenotype
p.Thr41= Multiple submitters atrioventricular septal defect 4
p.Thr82= Multiple submitters Cardiovascular phenotype
p.Tyr53= Multiple submitters Cardiovascular phenotype
p.Val268= Multiple submitters atrioventricular septal defect 4
p.Val37= Multiple submitters atrioventricular septal defect 4
p.Val400= Multiple submitters atrioventricular septal defect 4
c.1000+101A>G Single submitter
c.1000+103G>C Single submitter
c.1000+105G>C Single submitter
c.1000+118T>A Single submitter
c.1000+12A>G Single submitter atrioventricular septal defect 4
c.1000+13T>C Single submitter atrioventricular septal defect 4
c.1000+14del Single submitter atrioventricular septal defect 4
c.1000+17_1000+18del Single submitter atrioventricular septal defect 4
c.1000+19A>G Single submitter atrioventricular septal defect 4
c.1000+36A>C Single submitter
c.1000+8A>G Single submitter atrioventricular septal defect 4
c.1000+8A>T Single submitter
c.1000+92C>T Single submitter
c.1001-13T>C Single submitter atrioventricular septal defect 4
c.1001-16C>T Single submitter atrioventricular septal defect 4
c.1001-20C>G Single submitter atrioventricular septal defect 4
c.1001-23G>A Single submitter
c.1001-36C>T Single submitter
c.1001-43T>C Single submitter
c.1001-7A>T Single submitter atrioventricular septal defect 4
c.1001-7dup Single submitter atrioventricular septal defect 4
c.1149+14del Single submitter atrioventricular septal defect 4
c.1149+155G>T Single submitter
c.1149+15T>G Single submitter atrioventricular septal defect 4
c.1149+163C>T Single submitter
c.1149+16G>T Single submitter atrioventricular septal defect 4
c.1149+319G>A Single submitter
c.1149+4C>T Single submitter
c.1149+7G>T Single submitter atrioventricular septal defect 4
c.1149+8C>T Single submitter atrioventricular septal defect 4
c.1149+9C>T Single submitter atrioventricular septal defect 4
c.1150-14T>C Single submitter atrioventricular septal defect 4
c.1150-18G>A Single submitter atrioventricular septal defect 4
c.1150-18G>C Single submitter atrioventricular septal defect 4
c.1150-20del Single submitter atrioventricular septal defect 4
c.1150-281T>C Single submitter
c.1150-8C>T Single submitter atrioventricular septal defect 4
c.616+10A>C Single submitter atrioventricular septal defect 4
c.616+11G>T Single submitter atrioventricular septal defect 4
c.616+12C>G Single submitter
c.616+13G>T Single submitter atrioventricular septal defect 4
c.616+15G>C Single submitter atrioventricular septal defect 4
c.616+17G>C Single submitter atrioventricular septal defect 4
c.616+18G>T Single submitter atrioventricular septal defect 4
c.617-12C>A Single submitter atrioventricular septal defect 4
c.617-13C>T Single submitter atrioventricular septal defect 4
c.617-15T>C Single submitter atrioventricular septal defect 4
c.617-16G>C Single submitter atrioventricular septal defect 4
c.617-16G>T Single submitter atrioventricular septal defect 4
c.617-284T>A Single submitter
c.617-290T>G Single submitter
c.617-5C>T Single submitter atrioventricular septal defect 4
c.617-9C>A Single submitter atrioventricular septal defect 4
c.786+10T>G Single submitter atrioventricular septal defect 4
c.786+11G>A Single submitter atrioventricular septal defect 4
c.786+15C>T Single submitter atrioventricular septal defect 4
c.786+16G>A Single submitter atrioventricular septal defect 4
c.786+17C>T Single submitter atrioventricular septal defect 4
c.786+18A>C Single submitter atrioventricular septal defect 4
c.786+8C>T Single submitter atrioventricular septal defect 4
c.786+9G>A Single submitter atrioventricular septal defect 4
c.786+9G>T Single submitter atrioventricular septal defect 4
c.787-11C>T Single submitter atrioventricular septal defect 4
c.787-20A>G Single submitter atrioventricular septal defect 4
c.787-5T>C Single submitter atrioventricular septal defect 4
c.787-9G>C Single submitter atrioventricular septal defect 4
c.912+11C>A Single submitter atrioventricular septal defect 4
c.912+11C>T Single submitter atrioventricular septal defect 4
c.912+16G>A Single submitter atrioventricular septal defect 4
c.912+17C>T Single submitter atrioventricular septal defect 4
c.912+19C>G Single submitter atrioventricular septal defect 4
c.912+19C>T Single submitter atrioventricular septal defect 4
c.912+7G>C Single submitter atrioventricular septal defect 4
c.912+7G>T Single submitter atrioventricular septal defect 4
c.912+9G>A Single submitter atrioventricular septal defect 4
c.913-14T>C Single submitter atrioventricular septal defect 4
c.913-16A>C Single submitter atrioventricular septal defect 4
c.913-16A>G Single submitter atrioventricular septal defect 4
c.913-18T>G Single submitter atrioventricular septal defect 4
c.913-19T>A Single submitter atrioventricular septal defect 4
c.913-292A>G Single submitter
c.913-43C>T Single submitter
c.913-4C>T Single submitter atrioventricular septal defect 4
c.913-58T>A Single submitter
c.913-59A>C Single submitter
c.913-8C>A Single submitter atrioventricular septal defect 4
c.-306C>T Single submitter
c.-6+2996C>T Single submitter
c.-6+3009T>C Single submitter
c.-6+3009T>G Single submitter
c.-6+3078C>T Single submitter
c.-6+3114G>A Single submitter
c.-6+3119dup Single submitter
c.-6+3120C>T Single submitter
c.-6+3189G>A Single submitter
c.*1161G>C Single submitter
c.*5C>T Single submitter
p.Ala118= Single submitter Cardiovascular phenotype
p.Ala119= Single submitter atrioventricular septal defect 4
p.Ala120= Single submitter atrioventricular septal defect 4
p.Ala121= Single submitter atrioventricular septal defect 4
p.Ala124= Single submitter Cardiovascular phenotype
p.Ala126= Single submitter Cardiovascular phenotype
p.Ala129= Single submitter atrioventricular septal defect 4
p.Ala130= Single submitter atrioventricular septal defect 4
p.Ala131= Single submitter atrioventricular septal defect 4
p.Ala138= Single submitter Cardiovascular phenotype
p.Ala139= Single submitter Cardiovascular phenotype
p.Ala144= Single submitter atrioventricular septal defect 4
p.Ala152= Single submitter atrioventricular septal defect 4
p.Ala155= Single submitter atrioventricular septal defect 4
p.Ala164= Single submitter Cardiovascular phenotype
p.Ala17= Single submitter Cardiovascular phenotype
p.Ala171= Single submitter Cardiovascular phenotype
p.Ala174= Single submitter atrioventricular septal defect 4
p.Ala175= Single submitter Cardiovascular phenotype
p.Ala176= Single submitter atrioventricular septal defect 4
p.Ala177= Single submitter atrioventricular septal defect 4
p.Ala179= Single submitter atrioventricular septal defect 4
p.Ala200= Single submitter Cardiovascular phenotype
p.Ala287= Single submitter atrioventricular septal defect 4
p.Ala295= Single submitter Cardiovascular phenotype
p.Ala333= Single submitter atrioventricular septal defect 4
p.Ala403= Single submitter atrioventricular septal defect 4
p.Ala434= Single submitter atrioventricular septal defect 4
p.Ala59Gly Single submitter Cardiovascular phenotype
p.Ala62= Single submitter Cardiovascular phenotype
p.Ala74= Single submitter atrioventricular septal defect 4
p.Ala8= Single submitter atrioventricular septal defect 4
p.Ala92= Single submitter atrioventricular septal defect 4
p.Ala97= Single submitter
p.Ala98= Single submitter Cardiovascular phenotype
p.Arg107= Single submitter atrioventricular septal defect 4
p.Arg127= Single submitter Cardiovascular phenotype
p.Arg146= Single submitter atrioventricular septal defect 4
p.Arg151= Single submitter Cardiovascular phenotype
p.Arg195= Single submitter Cardiovascular phenotype
p.Arg201= Single submitter Cardiovascular phenotype
p.Arg231= Single submitter atrioventricular septal defect 4
p.Arg260= Single submitter Cardiovascular phenotype
p.Arg267= Single submitter Cardiovascular phenotype
p.Arg284= Single submitter atrioventricular septal defect 4
p.Arg307= Single submitter atrioventricular septal defect 4
p.Arg319= Single submitter atrioventricular septal defect 4
p.Arg321= Single submitter atrioventricular septal defect 4
p.Arg43= Single submitter atrioventricular septal defect 4
p.Asn10= Single submitter Cardiovascular phenotype
p.Asn252= Single submitter Cardiovascular phenotype
p.Asn286= Single submitter atrioventricular septal defect 4
p.Asn350= Single submitter atrioventricular septal defect 4
p.Asn429= Single submitter
p.Asp168= Single submitter Cardiovascular phenotype
p.Asp435= Single submitter atrioventricular septal defect 4
p.Cys293= Single submitter atrioventricular septal defect 4
p.Gln425= Single submitter atrioventricular septal defect 4
p.Gln91= Single submitter atrioventricular septal defect 4
p.Glu147= Single submitter atrioventricular septal defect 4
p.Glu368= Single submitter atrioventricular septal defect 4
p.Gly12= Single submitter atrioventricular septal defect 4
p.Gly137= Single submitter Cardiovascular phenotype
p.Gly140= Single submitter Cardiovascular phenotype
p.Gly145= Single submitter Cardiovascular phenotype
p.Gly150= Single submitter atrioventricular septal defect 4
p.Gly153= Single submitter atrioventricular septal defect 4
p.Gly16= Single submitter Cardiovascular phenotype
p.Gly170= Single submitter atrioventricular septal defect 4
p.Gly182= Single submitter atrioventricular septal defect 4
p.Gly21= Single submitter atrioventricular septal defect 4
p.Gly269= Single submitter Cardiovascular phenotype
p.Gly31= Single submitter atrioventricular septal defect 4
p.Gly370= Single submitter Cardiovascular phenotype
p.Gly394= Single submitter atrioventricular septal defect 4
p.Gly438= Single submitter atrioventricular septal defect 4
p.Gly50= Single submitter Cardiovascular phenotype
p.Gly56= Single submitter Cardiovascular phenotype
p.Gly58= Single submitter atrioventricular septal defect 4
p.Gly64= Single submitter Cardiovascular phenotype
p.Gly65= Single submitter atrioventricular septal defect 4
p.Gly65Ala Single submitter Cardiovascular phenotype
p.Gly73= Single submitter atrioventricular septal defect 4
p.Gly77= Single submitter Cardiovascular phenotype
p.Gly81= Single submitter atrioventricular septal defect 4
p.Gly85= Single submitter atrioventricular septal defect 4
p.Gly88= Single submitter Cardiovascular phenotype
p.Ile316= Single submitter atrioventricular septal defect 4
p.Ile365= Single submitter atrioventricular septal defect 4
p.Ile441= Single submitter Cardiovascular phenotype
p.Leu143= Single submitter atrioventricular septal defect 4
p.Leu192= Single submitter atrioventricular septal defect 4
p.Leu228= Single submitter atrioventricular septal defect 4
p.Leu255= Single submitter atrioventricular septal defect 4
p.Leu282= Single submitter atrioventricular septal defect 4
p.Leu302= Single submitter atrioventricular septal defect 4
p.Leu326= Single submitter atrioventricular septal defect 4
p.Leu371= Single submitter atrioventricular septal defect 4
p.Leu401= Single submitter atrioventricular septal defect 4
p.Leu404= Single submitter Cardiovascular phenotype
p.Leu433= Single submitter Cardiovascular phenotype
p.Leu49= Single submitter Cardiovascular phenotype
p.Leu51= Single submitter atrioventricular septal defect 4
p.Phe184= Single submitter atrioventricular septal defect 4
p.Pro102= Single submitter atrioventricular septal defect 4
p.Pro106= Single submitter Cardiovascular phenotype
p.Pro13= Single submitter Cardiovascular phenotype
p.Pro15= Single submitter Cardiovascular phenotype
p.Pro161= Single submitter atrioventricular septal defect 4
p.Pro163= Single submitter Cardiovascular phenotype
p.Pro183= Single submitter atrioventricular septal defect 4
p.Pro193= Single submitter atrioventricular septal defect 4
p.Pro198= Single submitter atrioventricular septal defect 4
p.Pro227= Single submitter atrioventricular septal defect 4
p.Pro254= Single submitter atrioventricular septal defect 4
p.Pro258= Single submitter atrioventricular septal defect 4
p.Pro308= Single submitter atrioventricular septal defect 4
p.Pro36= Single submitter Cardiovascular phenotype

Uncertain significance 536

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

c.1001-3C>T Multiple submitters Cardiovascular phenotype
c.912+5G>A Multiple submitters testicular anomalies with or without congenital heart disease
c.913-5T>G Multiple submitters atrioventricular septal defect 4
p.348SSN[1] Multiple submitters atrioventricular septal defect 4
p.Ala125_Ala126dup Multiple submitters atrioventricular septal defect 4
p.Ala131Gly Multiple submitters ventricular septal defect 1 ⚠
p.Ala138Glu Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala138Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala139Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala155Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala164Val Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala167Thr Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala171Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala196Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala200Val Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala264Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala264Thr Multiple submitters testicular anomalies with or without congenital heart disease ⚠
p.Ala30Val Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala32Pro Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala32Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala33Val Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala344Ser Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala344Thr Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala344Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala389Val Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala403Asp Multiple submitters GATA4-related disorder ⚠
p.Ala403Val Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala434Gly Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala443Val Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala59Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala62Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ala6Val Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala74Asp Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala94Thr Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala97Val Multiple submitters atrioventricular septal defect 4 ⚠
p.Ala98Thr Multiple submitters Cardiovascular phenotype ⚠
p.Arg127Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg151Ser Multiple submitters atrioventricular septal defect 4 ⚠
p.Arg253Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg260Cys Multiple submitters atrioventricular septal defect 4 ⚠
p.Arg260His Multiple submitters atrioventricular septal defect 4 ⚠
p.Arg261Gln Multiple submitters atrioventricular septal defect 4 ⚠
p.Arg267Gln Multiple submitters atrioventricular septal defect 4 ⚠
p.Arg312Trp Multiple submitters atrioventricular septal defect 4 ⚠
p.Arg363Cys Multiple submitters atrioventricular septal defect 4 ⚠
p.Asn10Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn197Ile Multiple submitters atrioventricular septal defect 4 ⚠
p.Asn204Ile Multiple submitters Cardiovascular phenotype ⚠
p.Asn220Ser Multiple submitters atrioventricular septal defect 4 ⚠
p.Asn249Lys Multiple submitters atrioventricular septal defect 4 ⚠
p.Asn325Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asp211Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp211Tyr Multiple submitters atrioventricular septal defect 4 ⚠
p.Asp426Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp435Asn Multiple submitters atrioventricular septal defect 4 ⚠
p.Asp439Asn Multiple submitters atrial septal defect 2 ⚠
p.Asp439Tyr Multiple submitters atrioventricular septal defect 4 ⚠
p.Gln317Glu Multiple submitters atrioventricular septal defect 4 ⚠
p.Gln383= Multiple submitters atrioventricular septal defect 4
p.Gln3Glu Multiple submitters atrioventricular septal defect 4 ⚠
p.Gln3Pro Multiple submitters atrioventricular septal defect 4 ⚠
p.Gln84Arg Multiple submitters Cardiovascular phenotype ⚠
p.Glu214Gln Multiple submitters atrioventricular septal defect 4 ⚠
p.Glu361Gly Multiple submitters atrioventricular septal defect 4 ⚠
p.Gly112Ala Multiple submitters atrioventricular septal defect 4 ⚠
p.Gly115Trp Multiple submitters atrioventricular septal defect 4 ⚠
p.Gly12Arg Multiple submitters dilated cardiomyopathy ⚠
p.Gly12Trp Multiple submitters Cardiovascular phenotype ⚠
p.Gly137Arg Multiple submitters Cardiovascular phenotype
p.Gly140Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly142Asp Multiple submitters testicular anomalies with or without congenital heart disease ⚠
p.Gly142Val Multiple submitters atrioventricular septal defect 4 ⚠
p.Gly153Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly156Val Multiple submitters GATA4-related disorder ⚠
p.Gly170Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly243Ser Multiple submitters atrioventricular septal defect 4 ⚠
p.Gly304Arg Multiple submitters atrioventricular septal defect 4 ⚠
p.Gly315Arg Multiple submitters atrioventricular septal defect 4 ⚠
p.Gly346Ser Multiple submitters atrioventricular septal defect 4 ⚠
p.Gly346Val Multiple submitters atrioventricular septal defect 4 ⚠
p.Gly370Ala Multiple submitters atrioventricular septal defect 4 ⚠
p.Gly394Glu Multiple submitters atrioventricular septal defect 4 ⚠
p.Gly394Val Multiple submitters Cardiovascular phenotype ⚠
p.Gly410Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly50Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly58Ser Multiple submitters atrioventricular septal defect 4 ⚠
p.Gly64Arg Multiple submitters atrioventricular septal defect 4
p.Gly69Val Multiple submitters atrioventricular septal defect 4 ⚠
p.Gly72Cys Multiple submitters atrioventricular septal defect 4 ⚠
p.Gly72Ser Multiple submitters atrioventricular septal defect 4 ⚠
p.Gly73Val Multiple submitters atrioventricular septal defect 4 ⚠
p.Gly79Val Multiple submitters Cardiovascular phenotype ⚠
p.Gly81Arg Multiple submitters atrioventricular septal defect 4
p.Gly85Cys Multiple submitters Cardiovascular phenotype ⚠
p.Gly88Val Multiple submitters atrioventricular septal defect 4 ⚠
p.His11Pro Multiple submitters atrioventricular septal defect 4 ⚠
p.His393Arg Multiple submitters atrioventricular septal defect 4 ⚠
p.Ile256Leu Multiple submitters atrioventricular septal defect 4 ⚠
p.Ile440Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ile440Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu244Val Multiple submitters atrioventricular septal defect 4 ⚠
p.Leu262Val Multiple submitters atrioventricular septal defect 4 ⚠
p.Leu404Met Multiple submitters GATA4-related disorder ⚠
p.Leu5Phe Multiple submitters atrioventricular septal defect 4 ⚠
p.Met166Val Multiple submitters Cardiovascular phenotype ⚠
p.Met208Lys Multiple submitters renal cysts and diabetes syndrome ⚠
p.Met208Thr Multiple submitters atrioventricular septal defect 4 ⚠
p.Met248Thr Multiple submitters atrioventricular septal defect 4 ⚠
p.Met311Leu Multiple submitters atrioventricular septal defect 4 ⚠
p.Phe110Leu Multiple submitters atrioventricular septal defect 4 ⚠
p.Phe209Ser Multiple submitters atrioventricular septal defect 4 ⚠
p.Phe385Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro101Ala Multiple submitters Cardiovascular phenotype ⚠
p.Pro14Arg Multiple submitters Cardiovascular phenotype
p.Pro15His Multiple submitters atrioventricular septal defect 4 ⚠
p.Pro163Arg Multiple submitters atrioventricular septal defect 4 ⚠
p.Pro193Ser Multiple submitters atrioventricular septal defect 4 ⚠
p.Pro198Ser Multiple submitters atrioventricular septal defect 4 ⚠
p.Pro203Arg Multiple submitters atrioventricular septal defect 4
p.Pro203Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro227Leu Multiple submitters atrioventricular septal defect 4 ⚠
p.Pro254Leu Multiple submitters atrioventricular septal defect 4 ⚠
p.Pro258Leu Multiple submitters atrioventricular septal defect 4 ⚠
p.Pro258Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro332Ala Multiple submitters Cardiovascular phenotype ⚠
p.Pro332Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro369Leu Multiple submitters ⚠
p.Pro36Ser Multiple submitters atrioventricular septal defect 4 ⚠
p.Pro40Ser Multiple submitters GATA4-related disorder ⚠
p.Pro414Ala Multiple submitters atrial septal defect 2 ⚠
p.Pro42Leu Multiple submitters Cardiovascular phenotype
p.Pro42Thr Multiple submitters atrioventricular septal defect 4 ⚠
p.Pro45Leu Multiple submitters atrioventricular septal defect 4 ⚠
p.Pro87Gln Multiple submitters atrioventricular septal defect 4 ⚠
p.Ser159Cys Multiple submitters Cardiovascular phenotype ⚠
p.Ser159Tyr Multiple submitters atrioventricular septal defect 4 ⚠
p.Ser338Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ser357Ile Multiple submitters Cardiovascular phenotype ⚠
p.Ser379Ile Multiple submitters atrioventricular septal defect 4 ⚠
p.Ser382Cys Multiple submitters Cardiovascular phenotype ⚠
p.Ser396Cys Multiple submitters Cardiovascular phenotype ⚠
p.Ser402Leu Multiple submitters atrioventricular septal defect 4 ⚠
p.Ser436Arg Multiple submitters atrioventricular septal defect 4 ⚠
p.Ser4Asn Multiple submitters atrioventricular septal defect 4 ⚠
p.Ser90Thr Multiple submitters atrioventricular septal defect 4 ⚠
p.Thr100Ala Multiple submitters Cardiovascular phenotype ⚠
p.Thr277Ser Multiple submitters Cardiovascular phenotype ⚠
p.Thr279Ile Multiple submitters atrioventricular septal defect 4 ⚠
p.Thr281Ser Multiple submitters atrioventricular septal defect 4 ⚠
p.Thr384Met Multiple submitters atrioventricular septal defect 4 ⚠
p.Thr421Asn Multiple submitters atrioventricular septal defect 4 ⚠
p.Thr421Ser Multiple submitters atrioventricular septal defect 4 ⚠
p.Tyr411Cys Multiple submitters atrioventricular septal defect 4 ⚠
p.Tyr411His Multiple submitters Cardiovascular phenotype ⚠
p.Val104Met Multiple submitters Cardiovascular phenotype ⚠
p.Val415Leu Multiple submitters atrioventricular septal defect 4 ⚠
p.Val432Leu Multiple submitters atrioventricular septal defect 4 ⚠
p.Val48Ala Multiple submitters Cardiovascular phenotype ⚠
p.Val48Gly Multiple submitters Cardiovascular phenotype ⚠
c.1000+5G>A Single submitter atrioventricular septal defect 4
c.1001-26G>A Single submitter congenital heart disease
c.1149+4C>G Single submitter atrioventricular septal defect 4
c.1149+6C>T Single submitter atrioventricular septal defect 4
c.1150-1G>A Single submitter Cardiovascular phenotype
c.1150-3C>G Single submitter atrioventricular septal defect 4
c.616+3G>A Single submitter atrioventricular septal defect 4
c.787-3C>T Single submitter atrioventricular septal defect 4
c.912+4C>A Single submitter atrioventricular septal defect 4
c.912+4C>T Single submitter atrioventricular septal defect 4
c.912+5G>T Single submitter atrioventricular septal defect 4
c.913-3C>T Single submitter atrioventricular septal defect 4
c.913-7C>A Single submitter atrioventricular septal defect 4
c.-1del Single submitter
c.-912C>T Single submitter GATA4-related disorder
p.Ala118Glu Single submitter atrioventricular septal defect 4 ⚠
p.Ala118Val Single submitter Cardiovascular phenotype ⚠
p.Ala120_Ala131dup Single submitter atrioventricular septal defect 4
p.Ala120Val Single submitter atrioventricular septal defect 4 ⚠
p.Ala121Thr Single submitter Cardiovascular phenotype ⚠
p.Ala123Gly Single submitter atrioventricular septal defect 4 ⚠
p.Ala123Pro Single submitter atrioventricular septal defect 4 ⚠
p.Ala124Asp Single submitter Cardiovascular phenotype
p.Ala125_Ala126del Single submitter atrioventricular septal defect 4
p.Ala125Val Single submitter atrioventricular septal defect 4 ⚠
p.Ala126_Arg127insAlaAlaAlaAlaAla Single submitter atrioventricular septal defect 4
p.Ala129Thr Single submitter atrioventricular septal defect 4 ⚠
p.Ala129Val Single submitter ⚠
p.Ala138Val Single submitter atrioventricular septal defect 4 ⚠
p.Ala139Val Single submitter atrioventricular septal defect 4 ⚠
p.Ala141Glu Single submitter atrioventricular septal defect 4 ⚠
p.Ala141Val Single submitter ⚠
p.Ala144Thr Single submitter atrioventricular septal defect 4 ⚠
p.Ala144Val Single submitter atrioventricular septal defect 4 ⚠
p.Ala152Phe Single submitter atrioventricular septal defect 4
p.Ala152Ser Single submitter Cardiovascular phenotype ⚠
p.Ala152Val Single submitter Cardiovascular phenotype ⚠
p.Ala164Gly Single submitter atrioventricular septal defect 4 ⚠
p.Ala164Thr Single submitter atrioventricular septal defect 4 ⚠
p.Ala167Val Single submitter atrioventricular septal defect 4 ⚠
p.Ala176Val Single submitter Cardiovascular phenotype ⚠
p.Ala177_Ala179del Single submitter atrioventricular septal defect 4
p.Ala177_Ala179dup Single submitter atrioventricular septal defect 4
p.Ala177Thr Single submitter atrioventricular septal defect 4 ⚠
p.Ala178_Ala179dup Single submitter atrioventricular septal defect 4
p.Ala178Ser Single submitter atrioventricular septal defect 4 ⚠
p.Ala178Thr Single submitter atrioventricular septal defect 4 ⚠
p.Ala178Val Single submitter atrioventricular septal defect 4 ⚠
p.Ala179_Ser180insAla Single submitter atrioventricular septal defect 4
p.Ala179_Ser180insAlaAla Single submitter atrioventricular septal defect 4
p.Ala17Pro Single submitter Cardiovascular phenotype ⚠
p.Ala17Thr Single submitter atrioventricular septal defect 4 ⚠
p.Ala181_Gly182insAlaSerAla Single submitter
p.Ala181Ser Single submitter atrioventricular septal defect 4 ⚠
p.Ala181Thr Single submitter Cardiovascular phenotype ⚠
p.Ala181Val Single submitter atrioventricular septal defect 4 ⚠
p.Ala196Pro Single submitter atrioventricular septal defect 4 ⚠
p.Ala196Ser Single submitter ⚠
p.Ala200Thr Single submitter Cardiovascular phenotype ⚠
p.Ala223Thr Single submitter atrioventricular septal defect 4 ⚠
p.Ala241Thr Single submitter ⚠
p.Ala25Gly Single submitter atrioventricular septal defect 4 ⚠
p.Ala287Thr Single submitter atrioventricular septal defect 4 ⚠
p.Ala310Pro Single submitter Cardiovascular phenotype ⚠
p.Ala334Val Single submitter Cardiovascular phenotype ⚠
p.Ala347Ser Single submitter Cardiovascular phenotype ⚠
p.Ala354Asp Single submitter Cardiovascular phenotype ⚠
p.Ala354Gly Single submitter Cardiovascular phenotype ⚠
p.Ala354Thr Single submitter atrioventricular septal defect 4 ⚠
p.Ala389Glu Single submitter atrioventricular septal defect 4 ⚠
p.Ala389Thr Single submitter ⚠
p.Ala443Glu Single submitter atrioventricular septal defect 4 ⚠
p.Ala59Ser Single submitter Cardiovascular phenotype ⚠
p.Ala66Thr Single submitter atrioventricular septal defect 4 ⚠
p.Ala74Thr Single submitter ⚠
p.Ala78Ser Single submitter atrioventricular septal defect 4 ⚠
p.Ala8Ser Single submitter atrioventricular septal defect 4 ⚠
p.Ala92Glu Single submitter atrioventricular septal defect 4 ⚠
p.Ala92Thr Single submitter atrioventricular septal defect 4 ⚠
p.Ala94Ser Single submitter Cardiovascular phenotype ⚠
p.Ala94Val Single submitter atrioventricular septal defect 4 ⚠
p.Ala97Gly Single submitter Cardiovascular phenotype ⚠
p.Ala9Ser Single submitter Cardiovascular phenotype ⚠
p.Ala9Thr Single submitter tetralogy of fallot ⚠
p.Arg107Ser Single submitter Cardiovascular phenotype ⚠
p.Arg127Gln Single submitter atrioventricular septal defect 4 ⚠
p.Arg127Gly Single submitter atrioventricular septal defect 4 ⚠
p.Arg146His Single submitter atrioventricular septal defect 4 ⚠
p.Arg151Leu Single submitter Cardiovascular phenotype ⚠
p.Arg195Gln Single submitter atrioventricular septal defect 4 ⚠
p.Arg195Pro Single submitter atrioventricular septal defect 4 ⚠
p.Arg201Gln Single submitter Cardiovascular phenotype ⚠
p.Arg201Gly Single submitter ⚠
p.Arg231Gln Single submitter atrioventricular septal defect 4 ⚠
p.Arg253Pro Single submitter ventricular septal defect 1 ⚠
p.Arg260Gly Single submitter atrioventricular septal defect 4 ⚠
p.Arg261Trp Single submitter atrioventricular septal defect 4 ⚠
p.Arg266His Single submitter atrioventricular septal defect 4 ⚠
p.Arg285Cys Single submitter atrioventricular septal defect 4 ⚠
p.Arg307Lys Single submitter atrioventricular septal defect 4 ⚠
p.Arg312Gln Single submitter atrioventricular septal defect 4 ⚠
p.Arg319Lys Single submitter atrioventricular septal defect 4 ⚠
p.Arg43Trp Single submitter Cardiovascular phenotype ⚠
p.Asn204Asp Single submitter atrioventricular septal defect 4 ⚠
p.Asn204Lys Single submitter Cardiovascular phenotype ⚠
p.Asn220Tyr Single submitter ⚠
p.Asn350Lys Single submitter atrioventricular septal defect 4 ⚠
p.Asn350Ser Single submitter Cardiovascular phenotype ⚠
p.Asn429His Single submitter atrioventricular septal defect 4 ⚠
p.Asn429Ser Single submitter atrioventricular septal defect 4 ⚠
p.Asp185His Single submitter Cardiovascular phenotype ⚠
p.Asp207Gly Single submitter tetralogy of fallot ⚠
p.Asp210Ala Single submitter ⚠
p.Asp210Val Single submitter atrioventricular septal defect 4 ⚠
p.Asp232Val Single submitter atrioventricular septal defect 4 ⚠
p.Asp439His Single submitter atrioventricular septal defect 4 ⚠
p.Asp95Asn Single submitter atrioventricular septal defect 4 ⚠
p.Cys218Arg Single submitter ⚠
p.Cys218Tyr Single submitter ⚠
p.Cys221Tyr Single submitter ⚠
p.Cys239Phe Single submitter atrioventricular septal defect 4 ⚠
p.Gln148His Single submitter Cardiovascular phenotype ⚠
p.Gln148Leu Single submitter atrioventricular septal defect 4 ⚠
p.Gln148Pro Single submitter atrioventricular septal defect 4 ⚠
p.Gln259Arg Single submitter atrioventricular septal defect 4 ⚠
p.Gln383Glu Single submitter atrioventricular septal defect 4 ⚠
p.Gln383His Single submitter atrioventricular septal defect 4 ⚠
p.Gln383Pro Single submitter Cardiovascular phenotype ⚠
p.Gln409Ter Single submitter atrioventricular septal defect 4
p.Gln425Glu Single submitter atrioventricular septal defect 4 ⚠
p.Gln55His Single submitter atrioventricular septal defect 4 ⚠
p.Gln83Pro Single submitter atrioventricular septal defect 4 ⚠
p.Gln84Pro Single submitter
p.Gln91Lys Single submitter atrioventricular septal defect 4
p.Gln91Pro Single submitter Cardiovascular phenotype ⚠
p.Glu147Asp Single submitter atrioventricular septal defect 4 ⚠
p.Glu147Lys Single submitter atrioventricular septal defect 4 ⚠
p.Glu19Lys Single submitter atrioventricular septal defect 4 ⚠
p.Glu217Asp Single submitter GATA4-related disorder ⚠
p.Glu290Asp Single submitter ⚠
p.Glu290Lys Single submitter atrioventricular septal defect 4 ⚠