ClinVar for Gene (Select 7874) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373663	NM_003470.3(USP7):c.1981T>G (p.Phe661Val)	USP7 (F562V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373522	NM_003470.3(USP7):c.2517T>G (p.Phe839Leu)	USP7 (F740L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373447	NM_003470.3(USP7):c.2255C>T (p.Ser752Phe)	USP7 (S653F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371693	NM_003470.3(USP7):c.557A>T (p.Asp186Val)	USP7 (D128V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368997	NM_003470.3(USP7):c.1138G>A (p.Asp380Asn)	USP7 (D281N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365204	NM_003470.3(USP7):c.489T>G (p.Asn163Lys)	USP7 (N105K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364231	NM_003470.3(USP7):c.2837G>T (p.Ser946Ile)	USP7 (S847I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364159	NM_003470.3(USP7):c.1927G>T (p.Asp643Tyr)	USP7 (D544Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363615	NM_003470.3(USP7):c.1579G>A (p.Val527Ile)	USP7 (V428I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361512	NM_003470.3(USP7):c.1931G>A (p.Gly644Asp)	USP7 (G545D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360799	NM_003470.3(USP7):c.174C>G (p.Asp58Glu)	USP7 (D42E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3360221	NM_003470.3(USP7):c.755C>G (p.Ser252Trp)	USP7 (S153W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360144	NM_003470.3(USP7):c.1013A>T (p.Asp338Val)	USP7 (D239V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359324	NM_003470.3(USP7):c.421A>G (p.Ile141Val)	USP7 (I125V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3345703	NM_003470.3(USP7):c.1650C>G (p.Ile550Met)	USP7 (I451M +3 more)	Single nucleotide variant (missense variant +1 more)	USP7-related disorder	GUncertain significance
Select item 3345107	NM_003470.3(USP7):c.2546C>T (p.Pro849Leu)	USP7 (P750L +3 more)	Single nucleotide variant (missense variant +1 more)	USP7-related disorder	GUncertain significance
Select item 3344971	NM_003470.3(USP7):c.3179T>G (p.Leu1060Trp)	USP7 (L1002W +3 more)	Single nucleotide variant (missense variant +1 more)	USP7-related disorder	GUncertain significance
Select item 3344807	NM_003470.3(USP7):c.3202G>A (p.Gly1068Ser)	USP7 (G1010S +3 more)	Single nucleotide variant (missense variant +1 more)	USP7-related disorder	GUncertain significance
Select item 3342923	NM_003470.3(USP7):c.1750T>C (p.Tyr584His)	USP7 (Y485H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340771	NM_003470.3(USP7):c.1018C>T (p.Arg340Trp)	USP7 (R241W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3339397	NC_000016.9:g.(?_8985953)_(9024255_9057063)dup	USP7	Duplication	not specified	GUncertain significance
Select item 3336073	NM_003470.3(USP7):c.2807C>T (p.Ser936Leu)	USP7 (S837L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3255089	NM_003470.3(USP7):c.698T>A (p.Phe233Tyr)	USP7 (F134Y +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome due to USP7 mutation	GUncertain significance
Select item 3255088	NM_003470.3(USP7):c.1463del (p.Cys488fs)	USP7 (C389fs +3 more)	Deletion (frameshift variant +1 more)	Hao-Fountain syndrome due to USP7 mutation	GPathogenic
Select item 3253552	NM_003470.3(USP7):c.3220C>G (p.Arg1074Gly)	USP7 (R1016G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252593	NM_003470.3(USP7):c.2858A>G (p.His953Arg)	USP7 (H854R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3251327	NM_003470.3(USP7):c.2730A>G (p.Leu910=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3243409	NC_000016.9:g.(?_8829597)_(9923529_?)del	ABAT, CARHSP1 +5 more	Deletion	Landau-Kleffner syndrome	GPathogenic
Select item 3239572	NM_003470.3(USP7):c.3068G>A (p.Arg1023Gln)	USP7 (R1007Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3237490	NM_003470.3(USP7):c.2403_2407del (p.Lys801fs)	USP7 (K702fs +3 more)	Deletion (frameshift variant +1 more)	Hao-Fountain syndrome due to USP7 mutation	GLikely pathogenic
Select item 3236348	NM_003470.3(USP7):c.2510T>G (p.Leu837Arg)	USP7 (L738R +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome due to USP7 mutation	GUncertain significance
Select item 3236128	NM_003470.3(USP7):c.3111+1G>A	USP7	Single nucleotide variant (splice donor variant)	Hao-Fountain syndrome due to USP7 mutation	GPathogenic
Select item 3187846	NM_003470.3(USP7):c.452G>T (p.Ser151Ile)	USP7 (S151I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3187845	NM_003470.3(USP7):c.3186C>A (p.Asp1062Glu)	USP7 (D1004E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064825	NM_003470.3(USP7):c.999G>C (p.Gln333His)	USP7 (Q234H +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GUncertain significance
Select item 3038950	NM_003470.3(USP7):c.990C>T (p.Ser330=)	USP7	Single nucleotide variant (synonymous variant +1 more)	USP7-related disorder	GLikely benign
Select item 3033935	NM_003470.3(USP7):c.1839+9C>T	USP7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3031791	NM_003470.3(USP7):c.80-6195G>A	USP7 (G8R)	Single nucleotide variant (missense variant +2 more)	USP7-related disorder	GUncertain significance
Select item 3031180	NM_003470.3(USP7):c.1942-5A>C	USP7	Single nucleotide variant (intron variant)	USP7-related disorder	GLikely benign
Select item 3027370	NM_003470.3(USP7):c.1749del (p.Met583fs)	USP7 (M484fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3026646	NM_003470.3(USP7):c.1573+5G>T	USP7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3026121	NM_003470.3(USP7):c.2511G>C (p.Leu837=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024378	GRCh38/hg38 16p13.2(chr16:8937723-10049200)	LOC130058406, LOC130058407 +33 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3019160	NM_003470.3(USP7):c.10CAG[9] (p.Gln10_Lys11insGlnGln)	USP7, USP7-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2910604	NM_003470.3(USP7):c.1429-9T>C	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905314	NM_003470.3(USP7):c.682C>T (p.Leu228=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2896927	NM_003470.3(USP7):c.3112-4T>G	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885847	NM_003470.3(USP7):c.2826A>G (p.Leu942=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2880528	NM_003470.3(USP7):c.185-13_185-12del	USP7	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2879842	NM_003470.3(USP7):c.906+17A>G	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879325	NM_003470.3(USP7):c.80-8C>A	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878285	NM_003470.3(USP7):c.2920-3C>T	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878255	NM_003470.3(USP7):c.1872C>G (p.Pro624=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876219	NM_003470.3(USP7):c.906+15A>G	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874303	NM_003470.3(USP7):c.2346C>T (p.Thr782=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2873068	NM_003470.3(USP7):c.3203-9C>A	USP7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2871844	NM_003470.3(USP7):c.110C>G (p.Thr37Ser)	USP7 (T21S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2870813	NM_003470.3(USP7):c.2531+20A>T	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870808	NM_003470.3(USP7):c.3039+20C>T	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869494	NM_003470.3(USP7):c.383+10_383+11insGTTTAAATGATGCAACTGCAAACCCCCACATCGTT	USP7	Insertion (intron variant)	not provided	GUncertain significance
Select item 2868786	NM_003470.3(USP7):c.558T>C (p.Asp186=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2868748	NM_003470.3(USP7):c.1573+19T>C	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868407	NM_003470.3(USP7):c.1710C>T (p.Val570=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2868398	NM_003470.3(USP7):c.1167A>G (p.Ala389=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2867724	NM_003470.3(USP7):c.2820-3C>T	USP7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2867541	NM_003470.3(USP7):c.384-18G>T	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867461	NM_003470.3(USP7):c.80-17_80-16del	USP7	Deletion (intron variant)	not provided	GLikely benign
Select item 2867441	NM_003470.3(USP7):c.2820-12dup	USP7	Duplication (intron variant)	not provided	GLikely benign
Select item 2858440	NM_003470.3(USP7):c.3202+20C>A	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855193	NM_003470.3(USP7):c.2643T>G (p.Leu881=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2845420	NM_003470.3(USP7):c.3193C>T (p.Pro1065Ser)	USP7 (P1049S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2841274	NM_003470.3(USP7):c.383+10_383+11insGTTTAAATGATGCAACTACAAACCTCCACATCGTT	USP7	Insertion (intron variant)	not provided	GLikely benign
Select item 2817287	NM_003470.3(USP7):c.2446A>G (p.Arg816Gly)	USP7 (R758G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2801913	NM_003470.3(USP7):c.597T>A (p.Ala199=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2797855	NM_003470.3(USP7):c.1573+18T>C	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797071	NM_003470.3(USP7):c.2048-13A>C	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796208	NM_003470.3(USP7):c.79+9C>G	USP7, USP7-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782794	NM_003470.3(USP7):c.483A>G (p.Lys161=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2782031	NM_003470.3(USP7):c.2796G>A (p.Gly932=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2780633	NM_003470.3(USP7):c.663G>A (p.Ala221=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2779727	NM_003470.3(USP7):c.1452G>A (p.Val484=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2779271	NM_003470.3(USP7):c.1289A>G (p.Gln430Arg)	USP7 (Q372R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2777055	NM_003470.3(USP7):c.3202+14_3202+15insG	USP7	Insertion (intron variant)	not provided	GBenign
Select item 2770348	NM_003470.3(USP7):c.973C>T (p.Arg325Cys)	USP7 (R267C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2764404	NM_003470.3(USP7):c.230G>C (p.Arg77Pro)	USP7 (R77P +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2761885	NM_003470.3(USP7):c.2464-17T>A	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2760129	NM_003470.3(USP7):c.1629A>T (p.Arg543=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2746885	NM_003470.3(USP7):c.569C>T (p.Thr190Ile)	USP7 (T190I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2743298	NM_003470.3(USP7):c.66C>T (p.Asp22=)	USP7, USP7-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742730	NM_003470.3(USP7):c.2718+12T>A	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2722296	NM_003470.3(USP7):c.1689C>T (p.Leu563=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2718418	NM_003470.3(USP7):c.756G>A (p.Ser252=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2708059	NM_003470.3(USP7):c.37G>A (p.Gly13Ser)	USP7, USP7-AS1 (G13S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700902	NM_003470.3(USP7):c.1161+10G>T	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684783	GRCh37/hg19 16p13.2(chr16:9025341-9312106)x3	HAPSTR1, USP7	Copy number gain	not provided	GUncertain significance
Select item 2684782	GRCh37/hg19 16p13.2(chr16:8922659-9123395)x3	CARHSP1, PMM2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684781	GRCh37/hg19 16p13.2(chr16:8396405-9479483)x3	ABAT, CARHSP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2683752	NM_003470.3(USP7):c.1722del (p.Gln574fs)	USP7, USP7-AS1 (Q475fs +3 more)	Deletion (frameshift variant +1 more)	Hao-Fountain syndrome	GPathogenic
Select item 2683345	NM_003470.3(USP7):c.62A>G (p.Glu21Gly)	USP7, USP7-AS1 (E21G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672615	NC_000016.10:g.8975163G>A	USP7	Single nucleotide variant	not provided	GUncertain significance

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