C5830518[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506432	NM_000859.3(HMGCR):c.365+4A>G	HMGCR	Single nucleotide variant (intron variant)	Muscular dystrophy, limb-girdle, autosomal recessive 28	GPathogenic
Select item 2506434	NM_000859.3(HMGCR):c.1327C>T (p.Arg443Trp)	HMGCR (R443W)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 28	GPathogenic
Select item 2506430	NM_000859.3(HMGCR):c.1328G>A (p.Arg443Gln)	HMGCR (R443Q)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 28	GPathogenic
Select item 2506435	NM_000859.3(HMGCR):c.1519TCT[1] (p.Ser508del)	HMGCR (S508del)	Microsatellite (inframe_deletion)	Muscular dystrophy, limb-girdle, autosomal recessive 28	GPathogenic
Select item 2506431	NM_000859.3(HMGCR):c.1867G>A (p.Asp623Asn)	HMGCR (D623N +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 28	GPathogenic
Select item 2506433	NM_000859.3(HMGCR):c.2375A>G (p.Tyr792Cys)	HMGCR (Y792C +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 28	GPathogenic
Select item 1803007	NM_000859.3(HMGCR):c.2465G>A (p.Gly822Asp)	HMGCR (G769D +1 more)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy	GPathogenic

ClinVar