USP2[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC126861364, LOC126861365 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	FRA11B, FXYD2 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	ABCG4, ACRV1 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2547705	NM_004205.5(USP2):c.1811G>C (p.Arg604Pro)	USP2 (R361P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340057	NM_004205.5(USP2):c.1732G>A (p.Val578Ile)	USP2 (V369I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611193	NM_004205.5(USP2):c.1729A>G (p.Ser577Gly)	USP2 (S577G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289737	NM_004205.5(USP2):c.1720A>C (p.Asn574His)	USP2 (N574H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314517	NM_004205.5(USP2):c.1711C>T (p.His571Tyr)	USP2 (H362Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187238	NM_004205.5(USP2):c.1662G>C (p.Met554Ile)	USP2 (M345I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282137	NM_004205.5(USP2):c.1631A>T (p.Tyr544Phe)	USP2 (Y301F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187237	NM_004205.5(USP2):c.1603A>G (p.Asn535Asp)	USP2 (N292D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187236	NM_004205.5(USP2):c.1366A>G (p.Met456Val)	LOC126861361, USP2 (M456V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187234	NM_004205.5(USP2):c.1334T>G (p.Ile445Ser)	LOC126861361, USP2 (I445S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187233	NM_004205.5(USP2):c.1216C>T (p.Arg406Trp)	LOC126861361, USP2 (R163W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213074	NM_004205.5(USP2):c.1190G>A (p.Arg397Gln)	LOC126861361, USP2 (R188Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403528	NM_004205.5(USP2):c.1124G>A (p.Arg375Gln)	USP2 (R132Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401866	NM_004205.5(USP2):c.1114G>A (p.Glu372Lys)	USP2 (E163K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490628	NM_004205.5(USP2):c.1043C>T (p.Pro348Leu)	USP2 (P348L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460878	NM_004205.5(USP2):c.1042C>T (p.Pro348Ser)	USP2 (P139S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187247	NM_004205.5(USP2):c.958A>G (p.Lys320Glu)	USP2 (K320E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326584	NM_004205.5(USP2):c.943G>A (p.Val315Met)	USP2 (V106M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2333256	NM_004205.5(USP2):c.794G>C (p.Gly265Ala)	USP2 (G22A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209602	NM_004205.5(USP2):c.769G>A (p.Gly257Ser)	USP2 (G257S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3187246	NM_004205.5(USP2):c.746G>A (p.Arg249His)	USP2 (R249H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187245	NM_004205.5(USP2):c.704C>T (p.Thr235Met)	USP2 (T235M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 734837	NM_004205.5(USP2):c.689C>T (p.Pro230Leu)	USP2 (P230L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3187244	NM_004205.5(USP2):c.611G>A (p.Arg204His)	USP2 (R204H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365204	NM_004205.5(USP2):c.596T>A (p.Leu199Gln)	USP2 (L199Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187243	NM_004205.5(USP2):c.553C>T (p.Leu185Phe)	USP2 (L185F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1251997	NM_004205.5(USP2):c.550G>A (p.Gly184Arg)	USP2 (G184R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529497	NM_004205.5(USP2):c.512T>G (p.Met171Arg)	USP2 (M171R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187242	NM_004205.5(USP2):c.479G>A (p.Arg160Gln)	USP2 (R160Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557464	NM_004205.5(USP2):c.349G>A (p.Val117Met)	USP2 (V117M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187241	NM_004205.5(USP2):c.335G>A (p.Gly112Glu)	USP2 (G112E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187240	NM_004205.5(USP2):c.329G>A (p.Gly110Asp)	USP2 (G110D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402258	NM_004205.5(USP2):c.316G>T (p.Gly106Cys)	USP2 (G106C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613493	NM_004205.5(USP2):c.286A>C (p.Thr96Pro)	USP2 (T96P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785387	NM_004205.5(USP2):c.279G>A (p.Glu93=)	USP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3187239	NM_004205.5(USP2):c.250G>A (p.Asp84Asn)	USP2 (D84N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776666	NM_004205.5(USP2):c.234C>T (p.Arg78=)	USP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2454272	NM_004205.5(USP2):c.226C>T (p.Arg76Trp)	USP2 (R76W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463862	NM_004205.5(USP2):c.185G>A (p.Arg62His)	USP2 (R62H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642466	NM_004205.5(USP2):c.158C>T (p.Pro53Leu)	USP2 (P53L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2536098	NM_004205.5(USP2):c.43G>A (p.Ala15Thr)	USP2 (A15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2425350	NC_000011.9:g.(?_119103138)_(121060609_?)dup	NECTIN1, TLCD5 +14 more	Duplication	not provided	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Inflammatory bowel disease 28 +5 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	CENATAC, CEP164 +73 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1015400	NC_000011.9:g.(?_119077108)_(120133495_?)dup	RNF26, USP2 +9 more	Duplication	RASopathy	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815474	GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3	VPS11, ABCG4 +33 more	Copy number gain	not provided	GUncertain significance
Select item 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	ABCG4, ACAD8 +160 more	Copy number gain	not provided	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	ABCG4, ACAD8 +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	APOC3, TBCEL +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	MSANTD2, NCAPD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	FXYD2, POU2F3 +72 more	Copy number gain	See cases	GPathogenic

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Items: 73