"PreventionGenetics, part of Exact Sciences"[submitter] AND "GATA1"[ge - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032772	NM_002049.4(GATA1):c.-19-12C>T	GATA1	Single nucleotide variant (intron variant)	GATA1-related disorder	GLikely benign
Select item 258540	NM_002049.4(GATA1):c.-19-5C>T	GATA1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 952388	NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)	GATA1 (S12*)	Single nucleotide variant (nonsense)	GATA1-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 435275	NM_002049.4(GATA1):c.113C>T (p.Pro38Leu)	GATA1 (P38L)	Single nucleotide variant (missense variant)	GATA1-related disorder +4 more	GBenign/Likely benign
Select item 134462	NM_002049.4(GATA1):c.163G>A (p.Ala55Thr)	GATA1 (A55T)	Single nucleotide variant (missense variant)	GATA1-related disorder +2 more	GBenign/Likely benign
Select item 2635148	NM_002049.4(GATA1):c.169_170insGCTGCAGGGTG (p.Ala57fs)	GATA1 (A57fs)	Insertion (frameshift variant)	GATA1-related disorder	GLikely pathogenic
Select item 258542	NM_002049.4(GATA1):c.174G>A (p.Ala58=)	GATA1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 2634432	NM_002049.4(GATA1):c.189C>A (p.Tyr63Ter)	GATA1 (Y63*)	Single nucleotide variant (nonsense)	GATA1-related disorder	GLikely pathogenic
Select item 2634504	NM_002049.4(GATA1):c.196G>A (p.Ala66Thr)	GATA1 (A66T)	Single nucleotide variant (missense variant)	GATA1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 695994	NM_002049.4(GATA1):c.201G>A (p.Glu67=)	GATA1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 699558	NM_002049.4(GATA1):c.361G>A (p.Val121Met)	GATA1 (V121M)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +2 more	GBenign/Likely benign
Select item 3057125	NM_002049.4(GATA1):c.573T>C (p.Arg191=)	GATA1	Single nucleotide variant (synonymous variant)	GATA1-related disorder	GLikely benign
Select item 31943	NM_002049.4(GATA1):c.646C>T (p.Arg216Trp)	GATA1	Single nucleotide variant (missense variant)	GATA1-related disorder +2 more	GLikely pathogenic
Select item 705411	NM_002049.4(GATA1):c.744+5G>A	GATA1	Single nucleotide variant (intron variant)	GATA1-related disorder +2 more	GBenign/Likely benign
Select item 705161	NM_002049.4(GATA1):c.870+8C>T	GATA1, LOC119407405	Single nucleotide variant (intron variant)	GATA1-related disorder +2 more	GLikely benign
Select item 700247	NM_002049.4(GATA1):c.942A>G (p.Lys314=)	GATA1	Single nucleotide variant (synonymous variant)	GATA1-related disorder +2 more	GBenign/Likely benign
Select item 2630838	NM_002049.4(GATA1):c.1132C>T (p.His378Tyr)	GATA1 (H378Y)	Single nucleotide variant (missense variant)	GATA1-related disorder	GUncertain significance
Select item 1165471	NM_002049.4(GATA1):c.1157T>C (p.Leu386Pro)	GATA1 (L386P)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +2 more	GConflicting classifications of pathogenicity
Select item 258541	NM_002049.4(GATA1):c.1173G>A (p.Thr391=)	GATA1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign