List of variants in gene B3GALNT2 reported as likely pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP
NM_152490.5(B3GALNT2):c.1311+1G>C	rs0
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met)	rs142756842
NM_152490.5(B3GALNT2):c.652-2A>G	rs1553347936
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)	rs367543072
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly)	rs367543073
NM_152490.5(B3GALNT2):c.762+1G>A	rs757347274
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)	rs367543074
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs)	rs367543075
NM_152490.5(B3GALNT2):c.842-1G>C	rs764784497
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro)	rs367543076

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