"Ambry Genetics"[submitter] AND "USP43"[gene] - ClinVar

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

Search results

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2240011	NM_153210.5(USP43):c.38C>A (p.Pro13Gln)	USP43 (P13Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378549	NM_153210.5(USP43):c.88C>G (p.Arg30Gly)	USP43 (R30G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269682	NM_153210.5(USP43):c.88C>T (p.Arg30Cys)	USP43 (R30C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394376	NM_153210.5(USP43):c.101C>A (p.Ala34Glu)	USP43 (A34E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329401	NM_153210.5(USP43):c.112C>G (p.Arg38Gly)	USP43 (R38G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478011	NM_153210.5(USP43):c.124G>A (p.Gly42Arg)	USP43 (G42R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240797	NM_153210.5(USP43):c.178G>A (p.Gly60Ser)	USP43 (G60S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597629	NM_153210.5(USP43):c.236G>A (p.Arg79His)	USP43 (R79H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534722	NM_153210.5(USP43):c.410C>T (p.Ala137Val)	USP43 (A137V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310711	NM_153210.5(USP43):c.438G>T (p.Gln146His)	USP43 (Q146H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262995	NM_153210.5(USP43):c.541A>G (p.Asn181Asp)	USP43 (N181D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352742	NM_153210.5(USP43):c.734A>T (p.Gln245Leu)	USP43 (Q245L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234715	NM_153210.5(USP43):c.814A>G (p.Ile272Val)	USP43 (I272V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327886	NM_153210.5(USP43):c.932A>G (p.Lys311Arg)	LOC126862489, USP43 (K311R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2557600	NM_153210.5(USP43):c.995G>T (p.Ser332Ile)	USP43 (S332I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259275	NM_153210.5(USP43):c.1135C>T (p.Arg379Cys)	USP43 (R379C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508020	NM_153210.5(USP43):c.1231C>A (p.Gln411Lys)	USP43 (Q411K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270123	NM_153210.5(USP43):c.1306A>G (p.Ile436Val)	USP43 (I436V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353739	NM_153210.5(USP43):c.1430G>A (p.Arg477Gln)	USP43 (R477Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282430	NM_153210.5(USP43):c.1789G>A (p.Glu597Lys)	LOC126862490, USP43 (E597K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371350	NM_153210.5(USP43):c.1903T>C (p.Ser635Pro)	LOC126862490, USP43 (S635P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491580	NM_153210.5(USP43):c.1916C>G (p.Pro639Arg)	LOC126862490, USP43 (P639R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391039	NM_153210.5(USP43):c.2072C>T (p.Pro691Leu)	USP43 (P686L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349588	NM_153210.5(USP43):c.2078G>A (p.Arg693Gln)	USP43 (R693Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235045	NM_153210.5(USP43):c.2110A>G (p.Ile704Val)	USP43 (I704V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597020	NM_153210.5(USP43):c.2342T>G (p.Leu781Trp)	USP43 (L781W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521977	NM_153210.5(USP43):c.2359G>A (p.Val787Ile)	USP43 (V782I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365258	NM_153210.5(USP43):c.2363G>A (p.Arg788Gln)	USP43 (R783Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484860	NM_153210.5(USP43):c.2368G>T (p.Val790Leu)	USP43 (V785L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341324	NM_153210.5(USP43):c.2368G>A (p.Val790Met)	USP43 (V785M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366677	NM_153210.5(USP43):c.2446C>T (p.Arg816Trp)	USP43 (R811W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534103	NM_153210.5(USP43):c.2462C>A (p.Ser821Tyr)	USP43 (S821Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485149	NM_153210.5(USP43):c.2527C>T (p.Arg843Trp)	USP43 (R838W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315057	NM_153210.5(USP43):c.2642G>A (p.Arg881Gln)	USP43 (R876Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508372	NM_153210.5(USP43):c.2693A>C (p.Asn898Thr)	USP43 (N893T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546539	NM_153210.5(USP43):c.2701C>G (p.Leu901Val)	USP43 (L896V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411798	NM_153210.5(USP43):c.2722G>A (p.Gly908Ser)	USP43 (G908S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210200	NM_153210.5(USP43):c.2731A>G (p.Thr911Ala)	USP43 (T911A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2235735	NM_153210.5(USP43):c.2764G>A (p.Asp922Asn)	USP43 (D917N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606461	NM_153210.5(USP43):c.2837G>A (p.Arg946Gln)	USP43 (R941Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407832	NM_153210.5(USP43):c.2846G>A (p.Gly949Asp)	USP43 (G944D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460544	NM_153210.5(USP43):c.3004G>A (p.Val1002Met)	USP43 (V1002M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531557	NM_153210.5(USP43):c.3056A>G (p.Gln1019Arg)	USP43 (Q1014R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 43