"Revvity Omics, Revvity"[submitter] AND "B4GAT1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439464	NM_006876.3(B4GAT1):c.612T>G (p.Asn204Lys)	B4GAT1 (N204K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	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

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