"HMGCR-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3040438	NM_000859.3(HMGCR):c.132T>C (p.Cys44=)	HMGCR	Single nucleotide variant (synonymous variant)	HMGCR-related disorder	GLikely benign
Select item 3058447	NM_000859.3(HMGCR):c.618C>T (p.Phe206=)	HMGCR	Single nucleotide variant (synonymous variant)	HMGCR-related disorder	GLikely benign
Select item 3034997	NM_000859.3(HMGCR):c.783T>A (p.Ser261=)	HMGCR	Single nucleotide variant (synonymous variant)	HMGCR-related disorder	GLikely benign
Select item 3053372	NM_000859.3(HMGCR):c.932A>C (p.Tyr311Ser)	HMGCR (Y311S)	Single nucleotide variant (missense variant)	HMGCR-related disorder	GBenign
Select item 3047715	NM_000859.3(HMGCR):c.2235C>T (p.Ser745=)	HMGCR	Single nucleotide variant (synonymous variant)	HMGCR-related disorder	GLikely benign
Select item 3060727	NM_000859.3(HMGCR):c.*8G>A	HMGCR	Single nucleotide variant (3 prime UTR variant)	HMGCR-related disorder	GBenign

ClinVar