"Ambry Genetics"[submitter] AND "USP5"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2273952	NM_001098536.2(USP5):c.11T>C (p.Leu4Pro)	USP5 (L4P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2322410	NM_001098536.2(USP5):c.192G>T (p.Lys64Asn)	USP5 (K18N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2407082	NM_001098536.2(USP5):c.236C>T (p.Pro79Leu)	USP5 (P33L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2306132	NM_001098536.2(USP5):c.277C>G (p.Arg93Gly)	USP5 (R93G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519864	NM_001098536.2(USP5):c.278G>A (p.Arg93Gln)	USP5 (R47Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529248	NM_001098536.2(USP5):c.958C>A (p.Leu320Met)	USP5 (L278M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325576	NM_001098536.2(USP5):c.1180C>A (p.Pro394Thr)	USP5 (P348T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393568	NM_001098536.2(USP5):c.1181C>T (p.Pro394Leu)	USP5 (P348L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391709	NM_001098536.2(USP5):c.1525A>C (p.Lys509Gln)	USP5 (K463Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367898	NM_001098536.2(USP5):c.1529G>A (p.Arg510Gln)	USP5 (R510Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339188	NM_001098536.2(USP5):c.1607A>G (p.Tyr536Cys)	USP5 (Y490C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322409	NM_001098536.2(USP5):c.1740A>C (p.Leu580Phe)	USP5 (L556F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524013	NM_001098536.2(USP5):c.1748T>C (p.Val583Ala)	USP5 (V537A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509767	NM_001098536.2(USP5):c.1825C>T (p.Pro609Ser)	USP5 (P567S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311208	NM_001098536.2(USP5):c.1843C>G (p.Pro615Ala)	USP5 (P569A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621999	NM_001098536.2(USP5):c.2020C>T (p.Arg674Cys)	USP5 (R650C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293542	NM_001098536.2(USP5):c.2021G>A (p.Arg674His)	USP5 (R605H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613188	NM_001098536.2(USP5):c.2161G>A (p.Asp721Asn)	USP5 (D679N +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282648	NM_001098536.2(USP5):c.2332C>T (p.Arg778Cys)	USP5 (R755C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253454	NM_001098536.2(USP5):c.2540T>C (p.Leu847Pro)	USP5 (L782P +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 20