C0152021[trait identifier] AND "Cytogenetics- Mohapatra Lab, Banaras H - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 219169	NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu)	NKX2-5 (A148E)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital heart disease	GPathogenic
Select item 219168	NM_004387.4(NKX2-5):c.391G>A (p.Glu131Lys)	NKX2-5 (E131K)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital heart disease	GPathogenic
Select item 219165	NM_004387.4(NKX2-5):c.335-1G>T	NKX2-5	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital heart disease	GPathogenic
Select item 219166	NM_004387.4(NKX2-5):c.335-12G>A	NKX2-5	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital heart disease	GUncertain significance
Select item 219167	NM_004387.4(NKX2-5):c.335-20G>A	NKX2-5	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital heart disease	GUncertain significance
Select item 219170	NM_004387.4(NKX2-5):c.182C>G (p.Ala61Gly)	NKX2-5 (A61G)	Single nucleotide variant (missense variant)	Congenital heart disease	GPathogenic
Select item 219226	NM_001308093.3(GATA4):c.23C>A (p.Ala8Asp)	GATA4 (A8D)	Single nucleotide variant (missense variant +1 more)	Congenital heart disease	GPathogenic
Select item 219227	NM_001308093.3(GATA4):c.25G>A (p.Ala9Thr)	GATA4 (A9T)	Single nucleotide variant (missense variant +1 more)	Tetralogy of Fallot	GUncertain significance
Select item 219231	NM_001308093.3(GATA4):c.27C>A (p.Ala9=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Congenital heart disease	GPathogenic
Select item 219228	NM_001308093.3(GATA4):c.383A>T (p.Glu128Val)	GATA4 (E128V)	Single nucleotide variant (missense variant +1 more)	Congenital heart disease	GPathogenic
Select item 219229	NM_001308093.3(GATA4):c.397A>T (p.Ser133Cys)	GATA4 (S133C)	Single nucleotide variant (missense variant +1 more)	Congenital heart disease	GPathogenic
Select item 219230	NM_001308093.3(GATA4):c.685T>A (p.Trp229Arg)	GATA4 (W228R +2 more)	Single nucleotide variant (missense variant)	Congenital heart disease	GPathogenic
Select item 219233	NM_001308093.3(GATA4):c.1000+2T>G	GATA4	Single nucleotide variant (splice donor variant)	Congenital heart disease	GPathogenic
Select item 219232	NM_001308093.3(GATA4):c.1266C>T (p.Ser422=)	GATA4	Single nucleotide variant (synonymous variant)	Congenital heart disease	GPathogenic