Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001002295.1(GATA3):c.823T>A (p.Trp275Arg) | 2625 | GATA3 | Pathogenic | 104894163 | RCV000018103; | N | MedGen:C1840333,OMIM:146255,ORPHA:2237 | 10 | 8106000 | 8106000 | NM_001002295.1:c.823T>A | NP_001002295.1:p.Trp275Arg | NC_000010.10:g.8106000T>A | OMIM Allelic Variant:131320.0006 | C1840333 146255 Barakat syndrome | | |
NM_001002295.1(GATA3):c.829C>T (p.Arg277Ter) | 2625 | GATA3 | Pathogenic | 104894162 | RCV000018102; | N | MedGen:C1840333,OMIM:146255,ORPHA:2237 | 10 | 8106006 | 8106006 | NM_001002295.1:c.829C>T | NP_001002295.1:p.Arg277Ter | NC_000010.10:g.8106006C>T | OMIM Allelic Variant:131320.0005 | C1840333 146255 Barakat syndrome | | |
NM_001002295.1(GATA3):c.924+2delTinsGCTTACTTCCC | 2625 | GATA3 | Pathogenic | 387906551 | RCV000018108; | N | MedGen:C1840333,OMIM:146255,ORPHA:2237 | 10 | 8106103 | 8106103 | NM_001002295.1:c.924+2delTinsGCTTACTTCCC | | NC_000010.10:g.8106103delTinsGCTTACTTCCC | OMIM Allelic Variant:131320.0011 | C1840333 146255 Barakat syndrome | | |
NM_001002295.1(GATA3):c.1025G>A (p.Cys342Tyr) | 2625 | GATA3 | Pathogenic | 387906621 | RCV000022539; | N | MedGen:C1840333,OMIM:146255,ORPHA:2237 | 10 | 8111536 | 8111536 | NM_001002295.1:c.1025G>A | NP_001002295.1:p.Cys342Tyr | NC_000010.10:g.8111536G>A | OMIM Allelic Variant:131320.0014 | C1840333 146255 Barakat syndrome | | |
NM_001002295.1(GATA3):c.1059A>T (p.Arg353Ser) | 2625 | GATA3 | Pathogenic | 104894165 | RCV000018109; | N | MedGen:C1840333,OMIM:146255,ORPHA:2237 | 10 | 8115710 | 8115710 | NM_001002295.1:c.1059A>T | NP_001002295.1:p.Arg353Ser | NC_000010.10:g.8115710A>T | OMIM Allelic Variant:131320.0012 | C1840333 146255 Barakat syndrome | | |
NM_001002295.1(GATA3):c.1099C>T (p.Arg367Ter) | 2625 | GATA3 | Pathogenic | 104894164 | RCV000018105; | N | MedGen:C1840333,OMIM:146255,ORPHA:2237 | 10 | 8115750 | 8115750 | NM_001002295.1:c.1099C>T | NP_001002295.1:p.Arg367Ter | NC_000010.10:g.8115750C>T | OMIM Allelic Variant:131320.0008 | C1840333 146255 Barakat syndrome | | |