Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_005257.5(GATA6):c.712G>T (p.Gly238Ter) | 2627 | GATA6 | Pathogenic | 587777710 | RCV000144067; RCV000191916; | N | Human Phenotype Ontology:HP:0000776,Human Phenotype Ontology:HP:0006604,MedGen:CN000730; Human Phenotype Ontology:HP:0001632,Human Phenotype Ontology:HP:0002564,Human Phenotype Ontology:HP:0002565,MedGen:CN002327; MedGen:C1838780,OMIM:600001 | 18 | 19751817 | 19751817 | NM_005257.5:c.712G>T | NP_005248.2:p.Gly238Ter | 18:g.19751817G>T | OMIM Allelic Variant:601656.0013 | CN000730 Congenital diaphragmatic hernia; CN002327 Malformation of the heart and great vessels; C1838780 600001 Pancreatic agenesis and congenital heart disease | | |
NM_005257.5(GATA6):c.1072delG (p.Val358Cysfs) | 2627 | GATA6 | Pathogenic | 587777711 | RCV000144068; RCV000191917; | N | Human Phenotype Ontology:HP:0000776,Human Phenotype Ontology:HP:0006604,MedGen:CN000730; Human Phenotype Ontology:HP:0001632,Human Phenotype Ontology:HP:0002564,Human Phenotype Ontology:HP:0002565,MedGen:CN002327; MedGen:C1838780,OMIM:600001 | 18 | 19752177 | 19752177 | NM_005257.5:c.1072delG | NP_005248.2:p.Val358Cysfs | | OMIM Allelic Variant:601656.0014 | CN000730 Congenital diaphragmatic hernia; CN002327 Malformation of the heart and great vessels; C1838780 600001 Pancreatic agenesis and congenital heart disease | | |
NM_005257.5(GATA6):c.1087C>T (p.Gln363Ter) | 2627 | GATA6 | Pathogenic | 797045593 | RCV000194865; | N | MedGen:C1838780,OMIM:600001 | 18 | 19752192 | 19752192 | NM_005257.5:c.1087C>T | NP_005248.2:p.Gln363Ter | NC_000018.9:g.19752192C>T | - | C1838780 600001 Pancreatic agenesis and congenital heart disease | | |
NM_005257.5(GATA6):c.1354A>G (p.Thr452Ala) | 2627 | GATA6 | Pathogenic | 387906817 | RCV000023133; | N | MedGen:C1838780,OMIM:600001 | 18 | 19761465 | 19761465 | NM_005257.5:c.1354A>G | NP_005248.2:p.Thr452Ala | NC_000018.9:g.19761465A>G | OMIM Allelic Variant:601656.0006 | C1838780 600001 Pancreatic agenesis and congenital heart disease | | |
NM_005257.5(GATA6):c.1366C>T (p.Arg456Cys) | 2627 | GATA6 | Pathogenic | 387906818 | RCV000023135; RCV000191918; | N | Human Phenotype Ontology:HP:0000776,Human Phenotype Ontology:HP:0006604,MedGen:CN000730; Human Phenotype Ontology:HP:0001632,Human Phenotype Ontology:HP:0002564,Human Phenotype Ontology:HP:0002565,MedGen:CN002327; MedGen:C1838780,OMIM:600001 | 18 | 19761477 | 19761477 | NM_005257.5:c.1366C>T | NP_005248.2:p.Arg456Cys | NC_000018.9:g.19761477C>T | OMIM Allelic Variant:601656.0008 | CN000730 Congenital diaphragmatic hernia; CN002327 Malformation of the heart and great vessels; C1838780 600001 Pancreatic agenesis and congenital heart disease | | |
NM_005257.5(GATA6):c.1367G>A (p.Arg456His) | 2627 | GATA6 | Pathogenic | 387906819 | RCV000023136; | N | MedGen:C1838780,OMIM:600001 | 18 | 19761478 | 19761478 | NM_005257.5:c.1367G>A | NP_005248.2:p.Arg456His | NC_000018.9:g.19761478G>A | OMIM Allelic Variant:601656.0009 | C1838780 600001 Pancreatic agenesis and congenital heart disease | | |
NM_005257.5(GATA6):c.1396A>G (p.Asn466Asp) | 2627 | GATA6 | Pathogenic | 387906813 | RCV000023137; | N | MedGen:C1838780,OMIM:600001 | 18 | 19761507 | 19761507 | NM_005257.5:c.1396A>G | NP_005248.2:p.Asn466Asp | NC_000018.9:g.19761507A>C,NC_000018.9:g.19761507A>G | OMIM Allelic Variant:601656.0010 | C1838780 600001 Pancreatic agenesis and congenital heart disease | | |
NM_005257.5(GATA6):c.1399G>A (p.Ala467Thr) | 2627 | GATA6 | Pathogenic | 387906820 | RCV000023138; | N | MedGen:C1838780,OMIM:600001 | 18 | 19761510 | 19761510 | NM_005257.5:c.1399G>A | NP_005248.2:p.Ala467Thr | NC_000018.9:g.19761510G>A | OMIM Allelic Variant:601656.0011 | C1838780 600001 Pancreatic agenesis and congenital heart disease | | |
NM_005257.5(GATA6):c.1448_1455delTGAAAAAA (p.Met483Argfs) | 2627 | GATA6 | Pathogenic | 587776872 | RCV000023134; | N | MedGen:C1838780,OMIM:600001 | 18 | 19762737 | 19762744 | NM_005257.5:c.1448_1455delTGAAAAAA | NP_005248.2:p.Met483Argfs | | OMIM Allelic Variant:601656.0007 | C1838780 600001 Pancreatic agenesis and congenital heart disease | | |
NM_005257.5(GATA6):c.1504_1505delAA (p.Lys502Aspfs) | 2627 | GATA6 | Pathogenic | 587776936 | RCV000033071; | N | MedGen:C1838780,OMIM:600001 | 18 | 19762793 | 19762794 | NM_005257.5:c.1504_1505delAA | NP_005248.2:p.Lys502Aspfs | | OMIM Allelic Variant:601656.0012 | C1838780 600001 Pancreatic agenesis and congenital heart disease | | |