"Ambry Genetics"[submitter] AND "NOX4"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2352441	NM_016931.5(NOX4):c.1472A>G (p.Tyr491Cys)	NOX4 (Y512C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570149	NM_016931.5(NOX4):c.1384G>A (p.Val462Ile)	NOX4 (V398I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201449	NM_016931.5(NOX4):c.1375T>C (p.Phe459Leu)	NOX4 (F385L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208685	NM_016931.5(NOX4):c.1375T>A (p.Phe459Ile)	NOX4 (F459I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300537	NM_016931.5(NOX4):c.1324C>G (p.Leu442Val)	NOX4 (L418V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201448	NM_016931.5(NOX4):c.1202C>A (p.Ser401Tyr)	NOX4 (S327Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300533	NM_016931.5(NOX4):c.1081A>G (p.Thr361Ala)	NOX4 (T361A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554619	NM_016931.5(NOX4):c.1036G>A (p.Val346Ile)	NOX4 (V321I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260623	NM_016931.5(NOX4):c.1001G>T (p.Arg334Ile)	NOX4 (R260I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607179	NM_016931.5(NOX4):c.943A>G (p.Met315Val)	NOX4 (M291V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522175	NM_016931.5(NOX4):c.910C>T (p.Arg304Trp)	NOX4 (R230W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303207	NM_016931.5(NOX4):c.889G>A (p.Glu297Lys)	NOX4 (E272K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287290	NM_016931.5(NOX4):c.862T>G (p.Ser288Ala)	NOX4 (S264A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201451	NM_016931.5(NOX4):c.858G>C (p.Trp286Cys)	NOX4 (W262C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607943	NM_016931.5(NOX4):c.858G>T (p.Trp286Cys)	NOX4 (W212C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455688	NM_016931.5(NOX4):c.642G>T (p.Lys214Asn)	NOX4 (K189N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483612	NM_016931.5(NOX4):c.618G>T (p.Leu206Phe)	NOX4 (L132F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300534	NM_016931.5(NOX4):c.578C>T (p.Thr193Ile)	NOX4 (T119I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481795	NM_016931.5(NOX4):c.512T>C (p.Leu171Pro)	NOX4 (L146P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364586	NM_016931.5(NOX4):c.503T>C (p.Val168Ala)	NOX4 (V143A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613757	NM_016931.5(NOX4):c.502G>T (p.Val168Leu)	NOX4 (V143L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300535	NM_016931.5(NOX4):c.466T>A (p.Phe156Ile)	NOX4 (F82I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346513	NM_016931.5(NOX4):c.352G>A (p.Val118Met)	NOX4 (V118M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201450	NM_016931.5(NOX4):c.311T>G (p.Phe104Cys)	NOX4 (F125C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353010	NM_016931.5(NOX4):c.260A>G (p.Gln87Arg)	NOX4 (Q63R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408582	NM_016931.5(NOX4):c.232A>G (p.Thr78Ala)	NOX4 (T4A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397334	NM_016931.5(NOX4):c.220C>T (p.Pro74Ser)	NOX4 (P95S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300536	NM_016931.5(NOX4):c.130C>T (p.His44Tyr)	NOX4 (H20Y +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2338545	NM_016931.5(NOX4):c.43A>G (p.Lys15Glu)	NOX4 (K15E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2509842	NM_016931.5(NOX4):c.28G>A (p.Ala10Thr)	NOX4 (A10T)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2559097	NM_016931.5(NOX4):c.17G>A (p.Arg6Lys)	NOX4 (R6K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance

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Items: 31