ClinVar (all) for Orgtrack (Select 505195) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 132980	NM_152490.5(B3GALNT2):c.726_727del (p.Val243fs)	B3GALNT2 (V243fs +1 more)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 132979	NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs)	B3GALNT2 (S25fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 41939	NM_152490.5(B3GALNT2):c.1423C>T (p.Gln475Ter)	TBCE, B3GALNT2 (Q475*)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GConflicting classifications of pathogenicity
Select item 41938	NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)	B3GALNT2 (V268M +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 41937	NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly)	B3GALNT2 (V252G +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic/Likely pathogenic
Select item 41936	NM_152490.5(B3GALNT2):c.308_309del (p.Val103fs)	B3GALNT2 (V144fs +1 more)	Microsatellite (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 41935	NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro)	B3GALNT2 (R292P)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	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 +1 more	GConflicting classifications of pathogenicity