"GATA3-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1962791	NM_001002295.2(GATA3):c.69C>T (p.His23=)	GATA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2420246	NM_001002295.2(GATA3):c.82C>A (p.His28Asn)	GATA3 (H28N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 877499	NM_001002295.2(GATA3):c.241+8C>T	GATA3, LOC130003278	Single nucleotide variant (intron variant)	GATA3-related condition +1 more	GBenign/Likely benign
Select item 1194706	NM_001002295.2(GATA3):c.373_375dup (p.Gly125dup)	GATA3	Duplication (inframe_insertion)	GATA3-related condition +2 more	GLikely benign
Select item 870395	NM_001002295.2(GATA3):c.431dup (p.His145fs)	GATA3 (H145fs)	Duplication (frameshift variant)	GATA3-related condition +2 more	GPathogenic
Select item 3061035	NM_001002295.2(GATA3):c.430_431delinsT (p.Gly144fs)	GATA3 (G144fs)	Indel (frameshift variant)	GATA3-related condition	GLikely pathogenic
Select item 1200290	NM_001002295.2(GATA3):c.483C>G (p.Val161=)	GATA3	Single nucleotide variant (synonymous variant)	GATA3-related condition +1 more	GLikely benign
Select item 878526	NM_001002295.2(GATA3):c.492C>T (p.Asp164=)	GATA3	Single nucleotide variant (synonymous variant)	GATA3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2629775	NM_001002295.2(GATA3):c.629G>A (p.Gly210Glu)	GATA3 (G210E)	Single nucleotide variant (missense variant)	GATA3-related condition	GUncertain significance
Select item 2469897	NM_001002295.2(GATA3):c.649C>G (p.His217Asp)	GATA3 (H217D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3033006	NM_001002295.2(GATA3):c.723C>G (p.Gly241=)	GATA3	Single nucleotide variant (synonymous variant)	GATA3-related condition	GLikely benign
Select item 1181898	NM_001002295.2(GATA3):c.724G>A (p.Gly242Ser)	GATA3 (G242S)	Single nucleotide variant (missense variant)	GATA3-related condition +2 more	GLikely benign
Select item 2050529	NM_001002295.2(GATA3):c.849C>T (p.Tyr283=)	GATA3	Single nucleotide variant (synonymous variant)	GATA3-related condition +1 more	GLikely benign
Select item 3029876	NM_001002295.2(GATA3):c.1019A>G (p.Asn340Ser)	GATA3 (N339S +1 more)	Single nucleotide variant (missense variant)	GATA3-related condition	GUncertain significance
Select item 2635669	NM_001002295.2(GATA3):c.1083C>T (p.Gly361=)	GATA3	Single nucleotide variant (synonymous variant)	GATA3-related condition	GUncertain significance
Select item 3061457	NM_001002295.2(GATA3):c.1134A>G (p.Lys378=)	GATA3	Single nucleotide variant (synonymous variant)	GATA3-related condition	GLikely benign