ClinVar for Gene (Select 9960) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331434	NM_006537.4(USP3):c.296A>T (p.Asp99Val)	USP3 (D99V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331433	NM_006537.4(USP3):c.932C>T (p.Thr311Met)	USP3 (T267M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187372	NM_006537.4(USP3):c.995G>C (p.Arg332Thr)	USP3 (R288T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187371	NM_006537.4(USP3):c.845G>C (p.Gly282Ala)	USP3 (G238A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187370	NM_006537.4(USP3):c.835G>A (p.Gly279Ser)	USP3 (G279S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187369	NM_006537.4(USP3):c.278C>T (p.Thr93Ile)	USP3 (T93I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187368	NM_006537.4(USP3):c.206C>G (p.Thr69Ser)	USP3 (T69S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187367	NM_006537.4(USP3):c.1558C>T (p.Leu520Phe)	LOC126862155, USP3 +1 more (L520F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187366	NM_006537.4(USP3):c.1418C>T (p.Thr473Ile)	LOC126862155, USP3 +1 more (T473I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187365	NM_006537.4(USP3):c.1282G>A (p.Val428Ile)	USP3, USP3-AS1 (V428I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3187364	NM_006537.4(USP3):c.1277C>T (p.Thr426Ile)	USP3, USP3-AS1 (T382I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2593496	NM_006537.4(USP3):c.455G>C (p.Ser152Thr)	USP3 (S108T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558935	NM_006537.4(USP3):c.105C>A (p.Asn35Lys)	USP3 (N35K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543805	NM_006537.4(USP3):c.794T>C (p.Met265Thr)	USP3 (M265T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540421	NM_006537.4(USP3):c.218A>G (p.Lys73Arg)	USP3 (K73R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512992	NM_006537.4(USP3):c.1054C>T (p.Arg352Cys)	USP3 (R352C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493601	NM_006537.4(USP3):c.1396G>A (p.Gly466Arg)	USP3, USP3-AS1 (G422R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2475836	NM_006537.4(USP3):c.1549T>C (p.Ser517Pro)	LOC126862155, USP3 +1 more (S517P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424797	NC_000015.9:g.(?_62146656)_(64747263_?)del	APH1B, RPS27L +19 more	Deletion	not provided	GPathogenic
Select item 2404617	NM_006537.4(USP3):c.937A>G (p.Ile313Val)	USP3 (I313V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363804	NM_006537.4(USP3):c.289C>T (p.Arg97Cys)	USP3 (R53C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361607	NM_006537.4(USP3):c.1349A>G (p.Glu450Gly)	USP3, USP3-AS1 (E406G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2298929	NM_006537.4(USP3):c.658G>A (p.Glu220Lys)	USP3 (E176K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290050	NM_006537.4(USP3):c.41C>A (p.Pro14Gln)	USP3 (P14Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261310	NM_006537.4(USP3):c.1315T>C (p.Cys439Arg)	USP3, USP3-AS1 (C395R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2205965	NM_006537.4(USP3):c.917C>A (p.Ala306Glu)	USP3 (A306E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1679870	NM_006537.4(USP3):c.941T>G (p.Phe314Cys)	USP3 (F270C +1 more)	Single nucleotide variant (missense variant +1 more)	Neutropenia +1 more	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 833184	NC_000015.10:g.(?_63042820)_(63869153_?)dup	APH1B, CA12 +8 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 815728	GRCh37/hg19 15q22.2-22.31(chr15:63555363-63800908)x3	USP3, RAB8B +2 more	Copy number gain	not provided	GUncertain significance
Select item 779841	NM_006537.4(USP3):c.1482C>T (p.Asp494=)	LOC126862155, USP3 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 712841	NM_006537.4(USP3):c.1207C>T (p.Leu403=)	USP3, USP3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 710052	NM_006537.4(USP3):c.1078C>A (p.Pro360Thr)	USP3 (P316T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41