"Mendelics"[submitter] AND "CYP27A1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801897	NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)	CYP27A1 (R188*)	Single nucleotide variant (nonsense)	Cholestanol storage disease +1 more	GPathogenic
Select item 1686613	NM_000784.4(CYP27A1):c.563G>C (p.Arg188Pro)	CYP27A1 (R188P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4266	NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	CYP27A1 (T339M)	Single nucleotide variant (missense variant)	CYP27A1-related condition +2 more	GPathogenic/Likely pathogenic
Select item 801898	NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg)	CYP27A1 (L351R)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GConflicting classifications of pathogenicity
Select item 65831	NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)	CYP27A1 (P384L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 801899	NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro)	CYP27A1 (L394P)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GConflicting classifications of pathogenicity
Select item 4258	NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)	CYP27A1 (R474Q)	Single nucleotide variant (missense variant)	CYP27A1-related condition +2 more	GPathogenic

ClinVar