"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "GATA3"[gen - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2640295	NM_001002295.2(GATA3):c.112G>C (p.Ala38Pro)	GATA3 (A38P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 301119	NM_001002295.2(GATA3):c.216G>T (p.Val72=)	GATA3, LOC130003278	Single nucleotide variant (synonymous variant)	GATA3-related condition +3 more	GBenign/Likely benign
Select item 424946	NM_001002295.2(GATA3):c.359C>T (p.Thr120Met)	GATA3 (T120M)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome +2 more	GUncertain significance
Select item 806434	NM_001002295.2(GATA3):c.569T>C (p.Leu190Pro)	GATA3 (L190P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578611	NM_001002295.2(GATA3):c.604C>T (p.Arg202Cys)	GATA3 (R202C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498458	NM_001002295.2(GATA3):c.647_681dup (p.Glu228fs)	GATA3 (E228fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 623732	NM_001002295.2(GATA3):c.701dup (p.Ser237fs)	GATA3 (S237fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 879110	NM_001002295.2(GATA3):c.706C>A (p.Pro236Thr)	GATA3 (P236T)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GUncertain significance
Select item 301124	NM_001002295.2(GATA3):c.706C>G (p.Pro236Ala)	GATA3 (P236A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2640296	NM_001002295.2(GATA3):c.838A>G (p.Thr280Ala)	GATA3 (T279A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175764	NM_001002295.2(GATA3):c.959A>G (p.Asn320Ser)	GATA3 (N319S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 301127	NM_001002295.2(GATA3):c.1179C>T (p.Asn393=)	GATA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 301142	NM_001002295.2(GATA3):c.*664C>T	GATA3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign