"B4GAT1-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 474248	NM_006876.3(B4GAT1):c.1161G>A (p.Glu387=)	B4GAT1	Single nucleotide variant (synonymous variant)	B4GAT1-related condition +2 more	GBenign/Likely benign
Select item 1064288	NM_006876.3(B4GAT1):c.952G>A (p.Val318Met)	B4GAT1 (V318M)	Single nucleotide variant (missense variant)	B4GAT1-related condition +1 more	GUncertain significance
Select item 2138632	NM_006876.3(B4GAT1):c.837C>T (p.Tyr279=)	B4GAT1	Single nucleotide variant (synonymous variant)	B4GAT1-related condition +1 more	GLikely benign
Select item 420641	NM_006876.3(B4GAT1):c.828G>T (p.Val276=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +3 more	GBenign/Likely benign
Select item 2628662	NM_006876.3(B4GAT1):c.589A>G (p.Ile197Val)	B4GAT1 (I197V)	Single nucleotide variant (missense variant)	B4GAT1-related condition	GUncertain significance
Select item 421636	NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr)	B4GAT1 (A66T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +2 more	GConflicting classifications of pathogenicity
Select item 1112822	NM_006876.3(B4GAT1):c.192C>G (p.Arg64=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GLikely benign
Select item 704726	NM_006876.3(B4GAT1):c.152C>T (p.Pro51Leu)	B4GAT1 (P51L)	Single nucleotide variant (missense variant)	B4GAT1-related condition +1 more	GLikely benign