"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

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	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 3024211	NM_152490.5(B3GALNT2):c.178G>C (p.Ala60Pro)	B3GALNT2 (A101P +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance

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