C2936858[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12155	NM_000500.9(CYP21A2):c.293-13C>G	CYP21A2, LOC106780800	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 256842	NM_001395413.1(POR):c.378A>G (p.Pro126=)	POR	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 138789	NM_001395413.1(POR):c.1058-13C>G	POR	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 256838	NM_001395413.1(POR):c.1239+12C>T	POR	Single nucleotide variant (intron variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +4 more	GBenign
Select item 138790	NM_001395413.1(POR):c.1446T>C (p.Ala482=)	POR	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 256840	NM_001395413.1(POR):c.1499C>T (p.Ala500Val)	POR (A450V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 256841	NM_001395413.1(POR):c.1707G>A (p.Ser569=)	POR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 372354	NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)	CYP11A1 (E314K +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity

ClinVar