Related gene-specific medical variations for Gene (Select 1595) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236638	NM_000786.4(CYP51A1):c.1196A>G (p.Tyr399Cys)	CYP51A1 (Y294C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3236637	NM_000786.4(CYP51A1):c.1292G>T (p.Arg431Leu)	CYP51A1 (R326L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676394	NM_000786.4(CYP51A1):c.1291C>T (p.Arg431Cys)	CYP51A1 (R326C +1 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1250224	NM_001146152.2(CYP51A1):c.-246G>A	CYP51A1, CYP51A1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1194527	NM_001146152.2(CYP51A1):c.-198G>A	CYP51A1, CYP51A1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 136345	NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val)	AKAP9, CYP51A1 (M3614V +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GBenign/Likely benign

ClinVar