"Revvity Omics, Revvity"[submitter] AND "B3GALNT2"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 387830	NM_152490.5(B3GALNT2):c.1373G>A (p.Ser458Asn)	B3GALNT2, TBCE (S458N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1404510	NM_152490.5(B3GALNT2):c.1368+1G>A	B3GALNT2	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GConflicting classifications of pathogenicity
Select item 1007494	NM_152490.5(B3GALNT2):c.1368+1G>C	B3GALNT2	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 1331101	NM_152490.5(B3GALNT2):c.1324A>T (p.Ser442Cys)	B3GALNT2 (S442C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GUncertain significance
Select item 839795	NM_152490.5(B3GALNT2):c.1311+1G>C	B3GALNT2	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GLikely pathogenic
Select item 1038316	NM_152490.5(B3GALNT2):c.1208C>T (p.Pro403Leu)	B3GALNT2 (P403L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 473880	NM_152490.5(B3GALNT2):c.1178G>A (p.Arg393Gln)	B3GALNT2 (R393Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1324021	NM_152490.5(B3GALNT2):c.1177C>T (p.Arg393Ter)	B3GALNT2 (R393*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 2320311	NM_152490.5(B3GALNT2):c.1088T>G (p.Leu363Arg)	B3GALNT2 (L363R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GUncertain significance
Select item 846522	NM_152490.5(B3GALNT2):c.1069G>A (p.Asp357Asn)	B3GALNT2 (D357N)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1324035	NM_152490.5(B3GALNT2):c.1020_1021dup (p.Arg341fs)	B3GALNT2 (R341fs)	Microsatellite (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 579191	NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys)	B3GALNT2 (Y340C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GUncertain significance
Select item 540914	NM_152490.5(B3GALNT2):c.1013A>G (p.Asn338Ser)	B3GALNT2 (N338S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1414834	NM_152490.5(B3GALNT2):c.989G>A (p.Arg330His)	B3GALNT2 (R330H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 242531	NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn)	B3GALNT2 (D327N)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GConflicting classifications of pathogenicity
Select item 2439457	NM_152490.5(B3GALNT2):c.974T>C (p.Val325Ala)	B3GALNT2 (V325A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439453	NM_152490.5(B3GALNT2):c.922G>A (p.Ala308Thr)	B3GALNT2 (A308T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1324031	NM_152490.5(B3GALNT2):c.903dup (p.Asn302fs)	B3GALNT2 (N302fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 660530	NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe)	B3GALNT2 (L289F)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +2 more	GUncertain significance
Select item 132981	NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs)	B3GALNT2 (I317fs +1 more)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GPathogenic/Likely pathogenic
Select item 41934	NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)	B3GALNT2 (G247E +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GConflicting classifications of pathogenicity
Select item 2439459	NM_152490.5(B3GALNT2):c.701T>C (p.Val234Ala)	B3GALNT2 (V234A +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1369475	NM_152490.5(B3GALNT2):c.694G>A (p.Gly232Ser)	B3GALNT2 (G273S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1983763	NM_152490.5(B3GALNT2):c.670G>A (p.Val224Met)	B3GALNT2 (V265M +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1359369	NM_152490.5(B3GALNT2):c.664A>G (p.Thr222Ala)	B3GALNT2 (T222A +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GUncertain significance
Select item 1324016	NM_152490.5(B3GALNT2):c.652-1G>C	B3GALNT2	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 418056	NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His)	B3GALNT2 (R192H +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GConflicting classifications of pathogenicity
Select item 662032	NM_152490.5(B3GALNT2):c.500A>G (p.Asn167Ser)	B3GALNT2 (N208S +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 861145	NM_152490.5(B3GALNT2):c.493G>A (p.Asp165Asn)	B3GALNT2 (D165N +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 386896	NM_152490.5(B3GALNT2):c.466G>A (p.Val156Ile)	B3GALNT2 (V156I +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +2 more	GUncertain significance
Select item 1311125	NM_152490.5(B3GALNT2):c.463A>G (p.Ile155Val)	B3GALNT2 (I155V +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GUncertain significance
Select item 1059811	NM_152490.5(B3GALNT2):c.434T>C (p.Val145Ala)	B3GALNT2 (V145A +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 452907	NM_152490.5(B3GALNT2):c.410C>T (p.Ser137Leu)	B3GALNT2 (S137L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1036899	NM_152490.5(B3GALNT2):c.400G>C (p.Asp134His)	B3GALNT2 (D134H +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GUncertain significance
Select item 1984411	NM_152490.5(B3GALNT2):c.356A>T (p.Asn119Ile)	B3GALNT2 (N160I +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GUncertain significance
Select item 2439456	NM_152490.5(B3GALNT2):c.280A>G (p.Ile94Val)	B3GALNT2 (I135V +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439461	NM_152490.5(B3GALNT2):c.215G>A (p.Ser72Asn)	B3GALNT2 (S113N +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1408229	NM_152490.5(B3GALNT2):c.205G>A (p.Val69Met)	B3GALNT2 (V69M +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439455	NM_152490.5(B3GALNT2):c.185A>G (p.Asn62Ser)	B3GALNT2 (N103S +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 843956	NM_152490.5(B3GALNT2):c.73T>C (p.Ser25Pro)	B3GALNT2 (S25P)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 473886	NM_152490.5(B3GALNT2):c.43G>A (p.Ala15Thr)	B3GALNT2 (A15T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439460	NM_152490.5(B3GALNT2):c.37C>T (p.Leu13Phe)	B3GALNT2 (L13F)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 955142	NM_152490.5(B3GALNT2):c.31T>G (p.Cys11Gly)	B3GALNT2 (C11G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GUncertain significance
Select item 1515822	NM_152490.5(B3GALNT2):c.23T>G (p.Leu8Arg)	B3GALNT2 (L8R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance

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Items: 44