GATA6 (Transcription factor GATA-6) variants and mutations
GATA6 (also known as Transcription factor GATA-6) is a human protein-coding gene encoding a transcription factor GATA-6 protein. It regulates developmental programs in the pancreas, heart, gut, and other endoderm-derived tissues. Haploinsufficiency is a major cause of pancreatic agenesis and neonatal diabetes and can also produce congenital heart disease and other developmental abnormalities. This analysis covers 1,385 GATA6 variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia - diabetes - congenital heart disease, and atrioventricular septal defect 5. Example GATA6 variants include M1?, M1K, and A2V.
Variant analysis overview
- Gene: GATA6
- Protein: Transcription factor GATA-6
- UniProt accession: Q92908
- Organism: Homo sapiens
- Variants analyzed: 1385
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 902 unspecified-consequence records; 19 frameshift variants; 291 missense variants; 147 synonymous variants; 8 in-frame deletions; 11 stop-gained variants; 4 in-frame insertions; 3 substitution
- Prediction scores: 1,179 variants have prediction scores (85% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia - diabetes - congenital heart disease, atrioventricular septal defect 5, Tetralogy of Fallot, atrial septal defect 9, conotruncal heart malformations, atrial septal defect, congenital diaphragmatic hernia, Abnormal cardiovascular system morphology, neurodegenerative disease, hereditary disease, persistent truncus arteriosus.
Protein structure and variant hotspots
- Protein features: 1 post-translational modification sites.
- PTM context: 1 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable GATA6 variants
Examples include M1?, M1K, A2V, A2T, A2S, A2A, p.Leu3 Thr4delinsSer, L3M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV52525
- M1K (p.Met1Lys), rs2510624920, ClinGen CA401798262, ClinVar RCV003529484, Uncertain significance, Atrioventricular septal defect 5
- A2V (p.Ala2Val), gnomAD 18-22171148-GCC-G, CADD 32.00
- A2T (p.Ala2Thr), gnomAD 18-22171148-G-A, REVEL 0.49, CADD 27.00
- A2S (p.Ala2Ser), gnomAD 18-22171148-G-T, REVEL 0.48, CADD 25.50
- A2A (p.Ala2Ala), rs1228927661, gnomAD 18-22171150-C-T, CADD 15.50
- p.Leu3 Thr4delinsSer, gnomAD 18-22171151-TTGA-, CADD 22.30
- L3M (p.Leu3Met), gnomAD 18-22171151-T-A, REVEL 0.36, CADD 25.30
- L3F (p.Leu3Phe), gnomAD 18-22171153-G-T, REVEL 0.39, CADD 24.30
- T4T (p.Thr4Thr), rs746156401, gnomAD 18-22171156-T-C, CADD 15.40
- D5E (p.Asp5Glu), rs1353951147, ClinGen CA401798293, ClinVar RCV003929570, ClinVar RCV004790644, REVEL 0.28, CADD 23.00, Uncertain significance, not provided; Atrioventricular septal defect 5
- D5G (p.Asp5Gly), gnomAD rs2033033156, REVEL 0.52, CADD 25.60
- D5Y (p.Asp5Tyr), gnomAD 18-22171157-G-T, REVEL 0.72, CADD 31.00
- D5D (p.Asp5Asp), gnomAD 18-22171159-C-T, CADD 14.20
- G6A (p.Gly6Ala), ExAC rs774239468, gnomAD rs774239468, REVEL 0.32, CADD 23.20
- G6C (p.Gly6Cys), ESP rs139750927, ExAC rs139750927, TOPMed rs139750927, gnomAD rs139750927, REVEL 0.41, CADD 25.10, Uncertain significance
- G6R (p.Gly6Arg), rs139750927, ClinGen CA297146943, ClinVar RCV002049490, ESP rs139750927, REVEL 0.30, CADD 23.10, Uncertain significance, Atrioventricular septal defect 5
- G6S (p.Gly6Ser), rs139750927, ClinGen CA8908788, ClinVar RCV001236113, ClinVar RCV002563847, REVEL 0.24, CADD 21.30, Uncertain significance, Inborn genetic diseases; Atrioventricular septal defect 5; not provided
- G6V (p.Gly6Val), ExAC rs774239468, gnomAD rs774239468, REVEL 0.41, CADD 23.50
- G6D (p.Gly6Asp), gnomAD 18-22171161-G-A, REVEL 0.36, CADD 23.50
- G6G (p.Gly6Gly), gnomAD 18-22171162-C-T, CADD 15.30
- G7D (p.Gly7Asp), TOPMed rs2033033445
- G7R (p.Gly7Arg), 1000Genomes rs1453414298, gnomAD rs1453414298, REVEL 0.32, CADD 23.50, Uncertain significance
- G7S (p.Gly7Ser), rs1453414298, ClinGen CA401798297, ClinVar RCV003642833, 1000Genomes rs1453414298, REVEL 0.27, CADD 22.20, Uncertain significance, Atrioventricular septal defect 5
- G7V (p.Gly7Val), NCI-TCGA TCGA novel, REVEL 0.50, CADD 24.70, Variant assessed as somatic; moderate impact.
- G7C (p.Gly7Cys), gnomAD 18-22171163-G-T, REVEL 0.53, CADD 25.70
- G7G (p.Gly7Gly), gnomAD 18-22171165-C-A, CADD 14.60
- W8* (p.Trp8Ter), rs2033033528, ClinGen CA401798306, ClinVar RCV001255705, Ensembl rs2033033528, CADD 38.00, Pathogenic
- W8R (p.Trp8Arg), ExAC rs747871809, gnomAD rs747871809, REVEL 0.60, CADD 24.80
- W8L (p.Trp8Leu), gnomAD 18-22171167-G-T, REVEL 0.74, CADD 31.00
- W8C (p.Trp8Cys), gnomAD 18-22171168-G-T, REVEL 0.73, CADD 32.00
- C9R (p.Cys9Arg), TOPMed rs1251160301, gnomAD rs1251160301, Uncertain significance
- C9S (p.Cys9Ser), rs1251160301, ClinGen CA401798311, ClinVar RCV001822721, TOPMed rs1251160301, REVEL 0.37, CADD 21.60, Uncertain significance, not specified
- C9F (p.Cys9Phe), gnomAD 18-22171170-G-T, REVEL 0.51, CADD 24.30
- C9Y (p.Cys9Tyr), gnomAD 18-22171170-G-A, REVEL 0.51, CADD 24.20
- C9C (p.Cys9Cys), rs1473236605, gnomAD 18-22171171-C-T, CADD 14.40
- L10F (p.Leu10Phe), NCI-TCGA TCGA novel, REVEL 0.40, CADD 22.60, Variant assessed as somatic; high impact.
- L10* (p.Leu10Ter), gnomAD 18-22171173-T-A, CADD 37.00
- L10L (p.Leu10Leu), gnomAD 18-22171174-G-A, CADD 11.70
- P11L (p.Pro11Leu), rs1598733637, ClinGen CA401798335, ClinVar RCV001961115, TOPMed rs1598733637, AlphaMissense 0.14, MetaLR 0.76, Uncertain significance, Atrioventricular septal defect 5
- P11R (p.Pro11Arg), TOPMed rs1598733637, REVEL 0.35, AlphaMissense 0.14, Uncertain significance
- P11T (p.Pro11Thr), ExAC rs771802924, gnomAD rs771802924, REVEL 0.21, CADD 15.80, Uncertain significance, not provided
- P11S (p.Pro11Ser), gnomAD 18-22171175-C-T, REVEL 0.23, CADD 16.60
- P11Q (p.Pro11Gln), gnomAD 18-22171176-C-A, REVEL 0.33, CADD 23.50
- P11P (p.Pro11Pro), rs773163815, gnomAD 18-22171177-G-A, CADD 7.64
- K12R (p.Lys12Arg), cosmic curated COSV10500, REVEL 0.44, CADD 23.60
- K12E (p.Lys12Glu), gnomAD 18-22171178-A-G, REVEL 0.47, CADD 27.00
- R13C (p.Arg13Cys), gnomAD rs1457687192, REVEL 0.72, CADD 28.40, Uncertain significance, Tetralogy of Fallot; Conotruncal heart malformations; Atrial septal defect 9
- R13S (p.Arg13Ser), gnomAD 18-22171181-C-A, REVEL 0.58, CADD 24.10
- R13G (p.Arg13Gly), gnomAD 18-22171181-C-G, REVEL 0.54, CADD 24.20
- R13L (p.Arg13Leu), gnomAD 18-22171182-G-T, REVEL 0.55, CADD 24.40
- R13H (p.Arg13His), gnomAD 18-22171182-G-A, REVEL 0.56, CADD 27.30
- F14L (p.Phe14Leu), gnomAD 18-22171184-T-C, REVEL 0.28, CADD 21.50
- F14F (p.Phe14Phe), rs2033033804, gnomAD 18-22171186-C-T, CADD 7.53
- G15E (p.Gly15Glu), ExAC rs776000244, REVEL 0.54, CADD 24.70
- G15R (p.Gly15Arg), rs116262672, ClinGen CA152940, cosmic curated COSV52525, ClinVar RCV000117121, REVEL 0.53, CADD 27.00, Likely benign, Monogenic diabetes; not specified; not provided
- G15W (p.Gly15Trp), gnomAD 18-22171187-G-T, REVEL 0.54, CADD 28.60
- G15V (p.Gly15Val), gnomAD 18-22171188-G-T, REVEL 0.67, CADD 23.30
- G15G (p.Gly15Gly), gnomAD 18-22171189-G-T, CADD 9.90
- A16D (p.Ala16Asp), NCI-TCGA Cosmic COSV5252, cosmic curated COSV52527, Variant assessed as somatic; moderate impact.
- A16T (p.Ala16Thr), Ensembl rs1035980210, REVEL 0.37, CADD 23.20, Uncertain significance, Atrioventricular septal defect 5
- A16S (p.Ala16Ser), gnomAD 18-22171190-G-T, REVEL 0.38, CADD 20.60
- A16V (p.Ala16Val), gnomAD 18-22171191-C-T, REVEL 0.41, CADD 23.10
- A16A (p.Ala16Ala), rs764776127, gnomAD 18-22171192-C-A, CADD 11.70
- A17G (p.Ala17Gly), rs1030316600, ClinGen CA297147005, ClinVar RCV001874192, TOPMed rs1030316600, REVEL 0.27, CADD 19.20, Uncertain significance, Atrioventricular septal defect 5
- A17S (p.Ala17Ser), TOPMed rs993471660, gnomAD rs993471660, REVEL 0.33, CADD 21.40
- A17T (p.Ala17Thr), TOPMed rs993471660, gnomAD rs993471660, REVEL 0.36, CADD 22.40
- A17V (p.Ala17Val), gnomAD 18-22171194-C-T, REVEL 0.29, CADD 22.50
- A17A (p.Ala17Ala), gnomAD 18-22171195-G-C, CADD 7.75
- G18D (p.Gly18Asp), ExAC rs752348718, gnomAD rs752348718, REVEL 0.35, CADD 16.80
- G18R (p.Gly18Arg), rs2033034160, ClinGen CA401798441, ClinVar RCV001063106, Ensembl rs2033034160, AlphaMissense 0.20, MetaLR 0.73, Uncertain significance, Atrioventricular septal defect 5
- G18C (p.Gly18Cys), gnomAD 18-22171196-G-T, REVEL 0.34, CADD 14.40
- G18S (p.Gly18Ser), gnomAD 18-22171196-G-A, REVEL 0.31, CADD 7.86
- G18V (p.Gly18Val), gnomAD 18-22171197-G-T, REVEL 0.33, CADD 16.60
- G18G (p.Gly18Gly), gnomAD 18-22171198-T-C, CADD 8.62
- A19E (p.Ala19Glu), rs758867858, ClinGen CA8908798, ClinVar RCV002938728, ClinVar RCV003154076, REVEL 0.30, CADD 18.90, Uncertain significance, not provided; Atrioventricular septal defect 5
- A19S (p.Ala19Ser), gnomAD 18-22171199-G-T, REVEL 0.29, CADD 16.90
- A19T (p.Ala19Thr), gnomAD 18-22171199-G-A, REVEL 0.35, CADD 21.80
- A19V (p.Ala19Val), gnomAD 18-22171200-C-T, REVEL 0.30, CADD 15.40
- A19A (p.Ala19Ala), rs764489452, gnomAD 18-22171201-G-A, CADD 11.40
- D20G (p.Asp20Gly), TOPMed rs1202663626, gnomAD rs1202663626, REVEL 0.41, CADD 22.20
- D20V (p.Asp20Val), TOPMed rs1202663626, gnomAD rs1202663626
- D20H (p.Asp20His), gnomAD 18-22171202-G-C, REVEL 0.40, CADD 23.80
- D20Y (p.Asp20Tyr), gnomAD 18-22171202-G-T, REVEL 0.48, CADD 24.00
- D20E (p.Asp20Glu), gnomAD 18-22171204-C-A, REVEL 0.34, CADD 20.70
- D20D (p.Asp20Asp), gnomAD 18-22171204-C-T, CADD 12.30
- A21D (p.Ala21Asp), 1000Genomes rs139666654, ESP rs139666654, ExAC rs139666654, TOPMed rs139666654, REVEL 0.40, CADD 24.00, Likely benign
- A21G (p.Ala21Gly), rs139666654, ClinGen CA8908801, ClinVar RCV000862834, ClinVar RCV001551884, REVEL 0.35, CADD 22.80, Likely benign, not provided; Atrioventricular septal defect 5
- A21S (p.Ala21Ser), rs752129361, ClinGen CA8908800, ClinVar RCV002025858, 1000Genomes rs752129361, REVEL 0.33, CADD 23.20, Uncertain significance, Atrioventricular septal defect 5
- A21T (p.Ala21Thr), NCI-TCGA TCGA novel, REVEL 0.35, CADD 23.60, Variant assessed as somatic; moderate impact.
- A21A (p.Ala21Ala), rs2033034565, gnomAD 18-22171207-C-T, CADD 13.50
- S22R (p.Ser22Arg), rs1266267498, ClinGen CA401798497, ClinVar RCV003441171, gnomAD rs1266267498, REVEL 0.36, CADD 20.50, Uncertain significance, not provided
- S22G (p.Ser22Gly), gnomAD 18-22171208-A-G, REVEL 0.37, CADD 11.10
- S22I (p.Ser22Ile), gnomAD 18-22171209-G-T, REVEL 0.45, CADD 24.10
- S22S (p.Ser22Ser), gnomAD 18-22171210-C-T, CADD 12.90
- D23F (p.Asp23Phe), rs2510625048, ClinGen CA2580095468, ClinVar RCV003085369, Uncertain significance, Atrioventricular septal defect 5
- D23G (p.Asp23Gly), Ensembl rs541367007, REVEL 0.44, CADD 23.80
- D23N (p.Asp23Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D23H (p.Asp23His), gnomAD 18-22171211-G-C, REVEL 0.40, CADD 23.90
- D23Y (p.Asp23Tyr), gnomAD 18-22171211-G-T, REVEL 0.44, CADD 24.10
- D23V (p.Asp23Val), gnomAD 18-22171212-A-T, REVEL 0.51, CADD 23.80
- S24P (p.Ser24Pro), gnomAD 18-22171214-T-C, REVEL 0.29, CADD 22.00
- S24F (p.Ser24Phe), gnomAD 18-22171215-C-T, REVEL 0.46, CADD 26.20
- S24S (p.Ser24Ser), gnomAD 18-22171216-C-A, CADD 9.44
- R25T (p.Arg25Thr), cosmic curated COSV10805, ExAC rs750435307, gnomAD rs750435307
- R25G (p.Arg25Gly), gnomAD 18-22171217-A-G, REVEL 0.21, CADD 15.90
- R25I (p.Arg25Ile), gnomAD 18-22171218-G-T, REVEL 0.34, CADD 22.10
- R25R (p.Arg25Arg), gnomAD 18-22171219-A-G, CADD 9.67
- A26D (p.Ala26Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A26S (p.Ala26Ser), cosmic curated COSV99333, REVEL 0.30, CADD 13.00
- A26V (p.Ala26Val), gnomAD 18-22171221-C-T, REVEL 0.31, CADD 21.50
- A26A (p.Ala26Ala), gnomAD 18-22171222-C-A, CADD 13.50
- P28L (p.Pro28Leu), rs1483404102, ClinGen CA401798579, ClinVar RCV003408448, gnomAD rs1483404102, REVEL 0.56, CADD 24.60, Uncertain significance, GATA6-related disorder
- P28Q (p.Pro28Gln), gnomAD rs1483404102, Uncertain significance
- P28S (p.Pro28Ser), cosmic curated COSV10728, REVEL 0.35, CADD 22.10
- P28P (p.Pro28Pro), gnomAD 18-22171228-A-G, CADD 13.90
- A29E (p.Ala29Glu), rs1185015412, ClinGen CA401798589, ClinVar RCV001950049, TOPMed rs1185015412, REVEL 0.33, CADD 20.10, Uncertain significance, Atrioventricular septal defect 5
- A29S (p.Ala29Ser), gnomAD 18-22171229-G-T, REVEL 0.27, CADD 22.60
- A29V (p.Ala29Val), gnomAD 18-22171230-C-T, REVEL 0.27, CADD 20.10
- A29A (p.Ala29Ala), rs1254633924, gnomAD 18-22171231-G-T, CADD 10.10
- R30L (p.Arg30Leu), NCI-TCGA TCGA novel, ExAC rs756406083, TOPMed rs756406083, gnomAD rs756406083, REVEL 0.35, CADD 25.00, Uncertain significance
- R30Q (p.Arg30Gln), rs756406083, ClinGen CA8908804, cosmic curated COSV10587, ClinVar RCV001208478, REVEL 0.38, CADD 25.20, Uncertain significance, not provided; Atrioventricular septal defect 5
- R30W (p.Arg30Trp), TOPMed rs1423614383, gnomAD rs1423614383, REVEL 0.42, CADD 25.00
- R30R (p.Arg30Arg), rs1423614383, gnomAD 18-22171232-C-A, CADD 14.80
- E31D (p.Glu31Asp), TOPMed rs1376900662, gnomAD rs1376900662, REVEL 0.35, CADD 5.58
- E31G (p.Glu31Gly), NCI-TCGA TCGA novel, REVEL 0.38, CADD 24.80, Variant assessed as somatic; moderate impact.
- E31K (p.Glu31Lys), rs780160108, ClinGen CA8908805, ClinVar RCV001944585, ExAC rs780160108, REVEL 0.35, AlphaMissense 0.29, Uncertain significance, Atrioventricular septal defect 5
- E31Q (p.Glu31Gln), rs780160108, ClinGen CA401798605, ClinVar RCV002013171, ExAC rs780160108, AlphaMissense 0.29, MetaLR 0.84, Uncertain significance, Atrioventricular septal defect 5
- E31V (p.Glu31Val), ExAC rs749485622, gnomAD rs749485622, REVEL 0.38, CADD 24.60
- E31* (p.Glu31Ter), gnomAD 18-22171235-G-T, CADD 37.00
- E31E (p.Glu31Glu), rs1376900662, gnomAD 18-22171237-G-A, CADD 6.02
- P32L (p.Pro32Leu), rs1473003349, ClinGen CA401798626, ClinVar RCV003011407, TOPMed rs1473003349, REVEL 0.31, CADD 17.10, Uncertain significance, Atrioventricular septal defect 5
- P32T (p.Pro32Thr), rs1166309522, ClinGen CA401798617, ClinVar RCV001316447, TOPMed rs1166309522, REVEL 0.32, CADD 20.50, Uncertain significance, Atrioventricular septal defect 5
- P32S (p.Pro32Ser), gnomAD 18-22171238-C-T, REVEL 0.32, CADD 17.40
- P32H (p.Pro32His), gnomAD 18-22171239-C-A, REVEL 0.34, CADD 21.30
- P32P (p.Pro32Pro), gnomAD 18-22171240-C-A, CADD 10.90
- S33Y (p.Ser33Tyr), rs2510625108, ClinGen CA401798640, ClinVar RCV002736757, REVEL 0.50, CADD 25.50, Uncertain significance, Atrioventricular septal defect 5
- S33P (p.Ser33Pro), gnomAD 18-22171241-T-C, REVEL 0.41, CADD 24.80
- S33T (p.Ser33Thr), gnomAD 18-22171241-T-A, REVEL 0.37, CADD 23.00
- S33C (p.Ser33Cys), gnomAD 18-22171242-C-G, REVEL 0.48, CADD 26.00
- S33S (p.Ser33Ser), gnomAD 18-22171243-C-T, CADD 14.30
- T34R (p.Thr34Arg), ExAC rs771857951, gnomAD rs771857951, REVEL 0.42, CADD 23.20
- T34Q (p.Thr34Gln), rs1274072137, gnomAD 18-22171225-T-TCC, CADD 25.00
- T34A (p.Thr34Ala), gnomAD 18-22171244-A-G, REVEL 0.34, CADD 23.10
- T34P (p.Thr34Pro), gnomAD 18-22171244-A-C, REVEL 0.41, CADD 22.30
- T34K (p.Thr34Lys), gnomAD 18-22171245-C-A, REVEL 0.37, CADD 23.30
- T34M (p.Thr34Met), gnomAD 18-22171245-C-T, REVEL 0.41, CADD 23.50
- T34T (p.Thr34Thr), rs777486467, gnomAD 18-22171246-G-T, CADD 13.20
- P35Q (p.Pro35Gln), Ensembl rs2033035796
- P35T (p.Pro35Thr), gnomAD 18-22171247-C-A, REVEL 0.56, CADD 25.70
- P35L (p.Pro35Leu), gnomAD 18-22171248-C-T, REVEL 0.57, CADD 26.60
- P35R (p.Pro35Arg), gnomAD 18-22171248-C-G, REVEL 0.49, CADD 23.80
- P35P (p.Pro35Pro), gnomAD 18-22171249-G-T, CADD 10.30
- P36L (p.Pro36Leu), rs770825513, NCI-TCGA Cosmic COSV5252, cosmic curated COSV52525, ExAC rs770825513, REVEL 0.29, CADD 22.80, Variant assessed as somatic; moderate impact.
- P36S (p.Pro36Ser), TOPMed rs2033035931
- S37F (p.Ser37Phe), rs776255080, ClinGen CA8908811, ClinVar RCV001905112, ExAC rs776255080, REVEL 0.51, CADD 25.80, Uncertain significance, Atrioventricular septal defect 5
- S37P (p.Ser37Pro), gnomAD 18-22171253-T-C, REVEL 0.38, CADD 24.10
- S37Y (p.Ser37Tyr), gnomAD 18-22171254-C-A, REVEL 0.52, CADD 25.10
- S37S (p.Ser37Ser), rs758992870, gnomAD 18-22171255-C-A, CADD 8.82
- P38H (p.Pro38His), cosmic curated COSV99332, REVEL 0.54, CADD 23.20
- P38L (p.Pro38Leu), gnomAD rs1342995094, REVEL 0.55, CADD 23.30
- P38S (p.Pro38Ser), cosmic curated COSV10587, REVEL 0.56, CADD 24.70
- P38T (p.Pro38Thr), rs769310811, ClinGen CA8908813, cosmic curated COSV99333, ClinVar RCV001059930, REVEL 0.57, CADD 24.60, Uncertain significance, GATA6-related disorder; Atrioventricular septal defect 5
- P38del (p.Pro38del), gnomAD 18-22171253-TCCC-, CADD 18.70
- P38R (p.Pro38Arg), gnomAD 18-22171257-C-G, REVEL 0.61, CADD 25.00
- P38P (p.Pro38Pro), gnomAD 18-22171258-C-G, CADD 11.40
- I39T (p.Ile39Thr), rs572030089, ClinGen CA8908814, ClinVar RCV003643194, 1000Genomes rs572030089, REVEL 0.35, CADD 20.80, Uncertain significance, Atrioventricular septal defect 5
- I39P (p.Ile39Pro), gnomAD 18-22171253-T-TCC, CADD 27.30
- I39S (p.Ile39Ser), rs1313230835, gnomAD 18-22171253-TC-T, CADD 26.70
- I39V (p.Ile39Val), gnomAD 18-22171259-A-G, REVEL 0.32, CADD 22.80
- I39I (p.Ile39Ile), rs2033036524, gnomAD 18-22171261-C-T, CADD 12.50
- S40F (p.Ser40Phe), rs2033036579, ClinGen CA401798723, ClinVar RCV001246759, Ensembl rs2033036579, AlphaMissense 0.20, MetaLR 0.93, Uncertain significance, Atrioventricular septal defect 5
- S40P (p.Ser40Pro), gnomAD 18-22171262-T-C, REVEL 0.40, CADD 22.80
- S40Y (p.Ser40Tyr), gnomAD 18-22171263-C-A, REVEL 0.53, CADD 25.40
- S40S (p.Ser40Ser), gnomAD 18-22171264-T-C, CADD 10.60
- S41P (p.Ser41Pro), gnomAD 18-22171265-T-C, REVEL 0.28, CADD 24.10
- S41F (p.Ser41Phe), gnomAD 18-22171266-C-T, REVEL 0.35, CADD 25.80
- S41Y (p.Ser41Tyr), gnomAD 18-22171266-C-A, REVEL 0.39, CADD 23.60
- S41S (p.Ser41Ser), rs762641247, gnomAD 18-22171267-C-T, CADD 5.49
- S42* (p.Ser42Ter), ExAC rs764615856, TOPMed rs764615856, gnomAD rs764615856, CADD 35.00
Public GATA6 analysis runs
- GATA6 analysis run — GATA6 (1,385 variants) — completed 2026-08-20