"CYP51A1-related condition"[Disease/phenotype] AND "PreventionGenetics - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039897	NM_000786.4(CYP51A1):c.1491T>C (p.Pro497=)	CYP51A1	Single nucleotide variant (synonymous variant)	CYP51A1-related condition	GLikely benign
Select item 677167	NM_000786.4(CYP51A1):c.1359T>C (p.His453=)	CYP51A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1580829	NM_000786.4(CYP51A1):c.1309C>T (p.Pro437Ser)	CYP51A1 (P332S +1 more)	Single nucleotide variant (missense variant)	CYP51A1-related condition +1 more	GBenign/Likely benign
Select item 3040270	NM_000786.4(CYP51A1):c.888C>T (p.Tyr296=)	CYP51A1	Single nucleotide variant (synonymous variant)	CYP51A1-related condition	GLikely benign
Select item 3043760	NM_000786.4(CYP51A1):c.682A>C (p.Lys228Gln)	CYP51A1 (K123Q +1 more)	Single nucleotide variant (missense variant)	CYP51A1-related condition	GLikely benign
Select item 3057305	NM_000786.4(CYP51A1):c.292-6T>C	CYP51A1	Single nucleotide variant (intron variant)	CYP51A1-related condition	GLikely benign
Select item 3054962	NM_000786.4(CYP51A1):c.44C>T (p.Ala15Val)	CYP51A1 (A15V)	Single nucleotide variant (missense variant +1 more)	CYP51A1-related condition	GLikely benign

ClinVar