"Ambry Genetics"[submitter] AND "POR"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 909405	NM_001395413.1(POR):c.103G>A (p.Val35Met)	POR (V35M)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GUncertain significance
Select item 3216807	NM_001395413.1(POR):c.139A>G (p.Lys47Glu)	POR (K47E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1507311	NM_001395413.1(POR):c.385G>A (p.Asp129Asn)	POR (D129N +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GUncertain significance
Select item 3036544	NM_001395413.1(POR):c.458A>G (p.Tyr153Cys)	POR (Y153C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1374509	NM_001395413.1(POR):c.571C>T (p.Arg191Trp)	POR (R191W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 373418	NM_001395413.1(POR):c.572G>A (p.Arg191Gln)	POR (R191Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3216810	NM_001395413.1(POR):c.689A>C (p.His230Pro)	POR (H233P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1424406	NM_001395413.1(POR):c.764C>T (p.Ala255Val)	POR (A255V +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GUncertain significance
Select item 1489227	NM_001395413.1(POR):c.772G>A (p.Val258Met)	POR (V258M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3216811	NM_001395413.1(POR):c.785A>C (p.Glu262Ala)	POR (E262A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1417931	NM_001395413.1(POR):c.793C>T (p.Arg265Trp)	POR (R265W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1450872	NM_001395413.1(POR):c.985G>A (p.Ala329Thr)	POR, LOC126860075 (A329T +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GUncertain significance
Select item 3216806	NM_001395413.1(POR):c.1318C>G (p.Pro440Ala)	POR (P458A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2077964	NM_001395413.1(POR):c.1541G>C (p.Arg514Pro)	POR (R464P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1437920	NM_001395413.1(POR):c.1600G>A (p.Gly534Ser)	POR (G484S +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GUncertain significance
Select item 1397161	NM_001395413.1(POR):c.1603A>C (p.Thr535Pro)	POR (T485P +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 910469	NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)	POR (S519L +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1312717	NM_001395413.1(POR):c.1771C>G (p.Leu591Val)	POR (L541V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3216808	NM_001395413.1(POR):c.1777G>A (p.Val593Met)	POR (V593M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216809	NM_001395413.1(POR):c.1945G>C (p.Glu649Gln)	POR (E652Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1398037	NM_001395413.1(POR):c.1962G>C (p.Glu654Asp)	POR (E604D +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GUncertain significance
Select item 2253040	NM_001395413.1(POR):c.1969C>G (p.Gln657Glu)	POR (Q675E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 22