Related gene-specific medical variations for Gene (Select 2623) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3026898	NM_002049.4(GATA1):c.871-33A>G	GATA1, LOC119407405	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2948822	NM_002049.4(GATA1):c.871-11C>T	GATA1, LOC119407405	Single nucleotide variant (intron variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 2924203	NM_002049.4(GATA1):c.870+5C>T	GATA1, LOC119407405	Single nucleotide variant (intron variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 2689117	NM_002049.4(GATA1):c.1058T>C (p.Leu353Pro)	GATA1 (L353P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689115	NM_002049.4(GATA1):c.205_220+8del	GATA1	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2689114	NM_002049.4(GATA1):c.1019del (p.Gly340fs)	GATA1 (G340fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2432045	NM_002049.4(GATA1):c.685G>A (p.Gly229Ser)	GATA1 (G229S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432043	NM_002049.4(GATA1):c.595T>A (p.Cys199Ser)	GATA1 (C199S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2154699	NM_002049.4(GATA1):c.871-20C>T	GATA1, LOC119407405	Single nucleotide variant (intron variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GBenign
Select item 1336797	NM_002049.4(GATA1):c.871-7T>C	GATA1, LOC119407405	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 998076	NM_002049.4(GATA1):c.219A>G (p.Pro73=)	GATA1	Single nucleotide variant (synonymous variant)	Acute megakaryoblastic leukemia in down syndrome	GPathogenic
Select item 998073	NM_002049.4(GATA1):c.159_171dup (p.Ala58fs)	GATA1 (A58fs)	Duplication (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome	GPathogenic
Select item 998072	NM_002049.4(GATA1):c.142_149dup (p.Ser51fs)	GATA1 (S51fs)	Duplication (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome	GPathogenic
Select item 998069	NM_002049.4(GATA1):c.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG (p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer)	GATA1	Insertion (nonsense)	Acute megakaryoblastic leukemia in down syndrome	GPathogenic
Select item 998066	NM_002049.4(GATA1):c.175_193dup (p.Asp65fs)	GATA1 (D65fs)	Duplication (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome	GPathogenic
Select item 998065	NM_002049.4(GATA1):c.4dup (p.Glu2fs)	GATA1 (E2fs)	Duplication (frameshift variant +1 more)	Transient myeloproliferative syndrome	GPathogenic
Select item 998064	NM_002049.4(GATA1):c.151_186delinsT (p.Ser51fs)	GATA1 (S51fs)	Indel (frameshift variant)	Transient myeloproliferative syndrome	GPathogenic
Select item 998063	NM_002049.4(GATA1):c.219del (p.Val74fs)	GATA1 (V74fs)	Deletion (frameshift variant)	Transient myeloproliferative syndrome	GPathogenic
Select item 998062	NM_002049.4(GATA1):c.49_50del (p.Gln17fs)	GATA1 (Q17fs)	Deletion (frameshift variant)	Transient myeloproliferative syndrome	GPathogenic
Select item 705161	NM_002049.4(GATA1):c.870+8C>T	GATA1, LOC119407405	Single nucleotide variant (intron variant)	GATA1-related condition +2 more	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 156268	NM_002049.4(GATA1):c.622G>C (p.Gly208Arg)	GATA1	Single nucleotide variant (missense variant)	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	Gnot provided
Select item 134463	NM_002049.4(GATA1):c.949C>T (p.Arg317Trp)	GATA1 (R317W)	Single nucleotide variant (missense variant)	not specified	Gnot provided

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Links from Gene

Items: 23