ClinVar for MedGen (Select 1718449) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069145	NM_022361.5(POPDC3):c.486-6T>A	BVES-AS1, POPDC3	Single nucleotide variant (intron variant)	Muscular dystrophy, limb-girdle, autosomal recessive 26	GPathogenic
Select item 3069144	NM_022361.5(POPDC3):c.486-1G>A	BVES-AS1, POPDC3	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy, limb-girdle, autosomal recessive 26	GPathogenic
Select item 3069143	NM_022361.5(POPDC3):c.460A>G (p.Lys154Glu)	BVES-AS1, POPDC3 (K154E)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 26	GPathogenic
Select item 869188	NM_022361.5(POPDC3):c.651A>T (p.Leu217Phe)	BVES-AS1, POPDC3 (L217F)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy, limb-girdle, autosomal recessive 26	GPathogenic
Select item 869187	NM_022361.5(POPDC3):c.464T>A (p.Leu155His)	BVES-AS1, POPDC3 (L155H)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 26	GPathogenic
Select item 869186	NM_022361.5(POPDC3):c.782G>A (p.Arg261Gln)	BVES-AS1, POPDC3 (R261Q)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy, limb-girdle, autosomal recessive 26	GPathogenic

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