"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "B3GAT3"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1435237	NM_012200.4(B3GAT3):c.971G>A (p.Arg324Gln)	B3GAT3 (R317Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 2196670	NM_012200.4(B3GAT3):c.871C>A (p.Pro291Thr)	B3GAT3 (P284T +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type +1 more	GUncertain significance
Select item 548015	NM_012200.4(B3GAT3):c.554G>A (p.Gly185Glu)	B3GAT3 (G185E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1326841	NM_012200.4(B3GAT3):c.202C>T (p.Pro68Ser)	B3GAT3 (P61S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1450220	NM_012200.4(B3GAT3):c.176G>A (p.Arg59Gln)	B3GAT3 (R52Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2683666	NM_012200.4(B3GAT3):c.85C>T (p.Gln29Ter)	B3GAT3 (Q22* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3380022	NM_012200.4(B3GAT3):c.35A>G (p.Tyr12Cys)	B3GAT3 (Y12C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1212504	NM_012200.4(B3GAT3):c.2T>C (p.Met1Thr)	B3GAT3 (M1T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity