"Revvity Omics, Revvity"[submitter] AND "POR"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435217	NM_001395413.1(POR):c.64C>T (p.Leu22Phe)	POR (L22F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429691	NM_001395413.1(POR):c.157G>A (p.Glu53Lys)	POR (E53K)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GUncertain significance
Select item 436385	NM_001395413.1(POR):c.674C>T (p.Pro225Leu)	POR (P225L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 16902	NM_001395413.1(POR):c.850G>C (p.Ala284Pro)	LOC126860075, POR (A302P)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1488584	NM_001395413.1(POR):c.1513G>A (p.Gly505Ser)	POR (G455S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 910469	NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)	POR (S519L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 440188	NM_001395413.1(POR):c.1721T>C (p.Leu574Pro)	POR (L524P +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +2 more	GUncertain significance
Select item 1324955	NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)	POR (Q556* +2 more)	Single nucleotide variant (nonsense)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +2 more	GPathogenic/Likely pathogenic