ClinVar for Gene (Select 57602) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331512	NM_001385174.1(USP36):c.358G>C (p.Val120Leu)	USP36 (V120L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3331511	NM_001385174.1(USP36):c.965A>G (p.Asn322Ser)	USP36 (N103S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331510	NM_001385174.1(USP36):c.827G>A (p.Arg276Gln)	USP36 (R111Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331509	NM_001385174.1(USP36):c.1888C>T (p.Pro630Ser)	USP36 (P411S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331508	NM_001385174.1(USP36):c.3294C>G (p.Phe1098Leu)	USP36 (F1099L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 3234266	NM_001385174.1(USP36):c.2148C>T (p.Ser716=)	USP36	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3187528	NM_001385174.1(USP36):c.947C>A (p.Thr316Asn)	USP36 (T106N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187527	NM_001385174.1(USP36):c.943T>C (p.Phe315Leu)	USP36 (F315L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187526	NM_001385174.1(USP36):c.836C>T (p.Ala279Val)	USP36 (A279V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187525	NM_001385174.1(USP36):c.767C>G (p.Ser256Cys)	USP36 (S91C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187524	NM_001385174.1(USP36):c.356G>A (p.Arg119His)	USP36 (R119H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187523	NM_001385174.1(USP36):c.3364C>T (p.Arg1122Cys)	USP36 (R912C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187522	NM_001385174.1(USP36):c.3246G>T (p.Lys1082Asn)	USP36 (K1082N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187521	NM_001385174.1(USP36):c.3080A>T (p.Gln1027Leu)	USP36 (Q1027L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187520	NM_001385174.1(USP36):c.3017G>A (p.Arg1006His)	USP36 (R1007H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3187519	NM_001385174.1(USP36):c.2764G>T (p.Gly922Cys)	USP36 (G703C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187518	NM_001385174.1(USP36):c.2551C>T (p.Arg851Cys)	USP36 (R686C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187517	NM_001385174.1(USP36):c.2540A>G (p.Lys847Arg)	USP36 (K628R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3187516	NM_001385174.1(USP36):c.2249G>A (p.Arg750His)	USP36 (R585H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3187515	NM_001385174.1(USP36):c.2207A>G (p.His736Arg)	USP36 (H736R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3187514	NM_001385174.1(USP36):c.2180C>A (p.Pro727His)	USP36 (P517H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187513	NM_001385174.1(USP36):c.2005G>C (p.Val669Leu)	USP36 (V669L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187512	NM_001385174.1(USP36):c.1963C>T (p.Pro655Ser)	USP36 (P436S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187511	NM_001385174.1(USP36):c.1928C>T (p.Thr643Met)	USP36 (T424M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187510	NM_001385174.1(USP36):c.1879C>T (p.Pro627Ser)	USP36 (P462S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187509	NM_001385174.1(USP36):c.1859G>T (p.Ser620Ile)	USP36 (S455I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187508	NM_001385174.1(USP36):c.1733T>C (p.Val578Ala)	USP36 (V368A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187507	NM_001385174.1(USP36):c.1732G>T (p.Val578Phe)	USP36 (V359F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187505	NM_001385174.1(USP36):c.1618G>T (p.Ala540Ser)	USP36 (A321S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187504	NM_001385174.1(USP36):c.1516C>T (p.Pro506Ser)	USP36 (P296S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187503	NM_001385174.1(USP36):c.1376A>G (p.Asn459Ser)	USP36 (N249S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187502	NM_001385174.1(USP36):c.1337C>T (p.Pro446Leu)	USP36 (P236L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187501	NM_001385174.1(USP36):c.1247A>G (p.Tyr416Cys)	USP36 (Y206C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187500	NM_001385174.1(USP36):c.1225G>T (p.Val409Leu)	USP36 (V244L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187499	NM_001385174.1(USP36):c.1225G>A (p.Val409Met)	USP36 (V199M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025057	NM_001385174.1(USP36):c.813C>T (p.Val271=)	USP36	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648381	NM_001385174.1(USP36):c.762G>A (p.Lys254=)	USP36	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648380	NM_001385174.1(USP36):c.2511T>C (p.Thr837=)	USP36	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2614838	NM_001385174.1(USP36):c.2970G>C (p.Glu990Asp)	USP36 (E990D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611553	NM_001385174.1(USP36):c.1741A>T (p.Thr581Ser)	USP36 (T581S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604808	NM_001385174.1(USP36):c.218A>G (p.His73Arg)	USP36 (H73R)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2599438	NM_001385174.1(USP36):c.2905G>T (p.Val969Leu)	USP36 (V969L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589674	NM_001385174.1(USP36):c.1333C>T (p.Arg445Cys)	USP36 (R445C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561873	NM_001385174.1(USP36):c.2414C>T (p.Pro805Leu)	USP36 (P586L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555213	NM_001385174.1(USP36):c.680G>T (p.Gly227Val)	USP36 (G227V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554987	NM_001385174.1(USP36):c.418T>G (p.Leu140Val)	USP36 (L140V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554496	NM_001385174.1(USP36):c.1069C>G (p.Gln357Glu)	USP36 (Q138E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549764	NM_001385174.1(USP36):c.841A>G (p.Ile281Val)	USP36 (I281V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543951	NM_001385174.1(USP36):c.1216A>G (p.Asn406Asp)	USP36 (N187D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520359	NM_001385174.1(USP36):c.1226T>C (p.Val409Ala)	USP36 (V409A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517526	NM_001385174.1(USP36):c.1037C>T (p.Pro346Leu)	USP36 (P136L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493753	NM_001385174.1(USP36):c.1658T>G (p.Leu553Arg)	USP36 (L343R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479044	NM_001385174.1(USP36):c.147C>G (p.Phe49Leu)	USP36 (F49L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2476311	NM_001385174.1(USP36):c.1777G>T (p.Gly593Trp)	USP36 (G383W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473248	NM_001385174.1(USP36):c.1877C>T (p.Ala626Val)	USP36 (A407V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463261	NM_001385174.1(USP36):c.2983G>A (p.Ala995Thr)	USP36 (A776T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2461405	NM_001385174.1(USP36):c.2111G>T (p.Gly704Val)	USP36 (G494V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458341	NM_001385174.1(USP36):c.605G>A (p.Arg202His)	USP36 (R202H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2401085	NM_001385174.1(USP36):c.1790A>G (p.Lys597Arg)	USP36 (K387R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391466	NM_001385174.1(USP36):c.1424C>T (p.Thr475Met)	USP36 (T475M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384944	NM_001385174.1(USP36):c.1235A>C (p.Asn412Thr)	USP36 (N412T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358256	NM_001385174.1(USP36):c.470G>A (p.Arg157His)	USP36 (R157H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355210	NM_001385174.1(USP36):c.1313G>C (p.Gly438Ala)	USP36 (G219A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2352904	NM_001385174.1(USP36):c.2323C>T (p.Arg775Trp)	USP36 (R610W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344942	NM_001385174.1(USP36):c.2366A>G (p.Glu789Gly)	USP36 (E624G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2344510	NM_001385174.1(USP36):c.2927A>G (p.Lys976Arg)	USP36 (K811R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335021	NM_001385174.1(USP36):c.2701G>C (p.Val901Leu)	USP36 (V691L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327753	NM_001385174.1(USP36):c.3190C>T (p.Arg1064Trp)	USP36 (R1064W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327397	NM_001385174.1(USP36):c.1635T>G (p.Phe545Leu)	USP36 (F335L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2323785	NM_001385174.1(USP36):c.2794G>A (p.Asp932Asn)	USP36 (D722N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317235	NM_001385174.1(USP36):c.2923C>T (p.Leu975Phe)	USP36 (L765F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317166	NM_001385174.1(USP36):c.349G>A (p.Val117Ile)	USP36 (V117I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2310112	NM_001385174.1(USP36):c.1943C>T (p.Ala648Val)	USP36 (A483V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302281	NM_001385174.1(USP36):c.889G>A (p.Glu297Lys)	USP36 (E78K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298415	NM_001385174.1(USP36):c.917A>G (p.Lys306Arg)	USP36 (K96R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283797	NM_001385174.1(USP36):c.374A>C (p.His125Pro)	USP36 (H125P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278583	NM_001385174.1(USP36):c.2779G>A (p.Gly927Ser)	USP36 (G717S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273389	NM_001385174.1(USP36):c.2261C>G (p.Pro754Arg)	USP36 (P544R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269189	NM_001385174.1(USP36):c.3337C>G (p.Pro1113Ala)	USP36 (P1113A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247872	NM_001385174.1(USP36):c.1781A>T (p.His594Leu)	USP36 (H429L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246410	NM_001385174.1(USP36):c.272A>G (p.Glu91Gly)	USP36 (E91G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2243064	NM_001385174.1(USP36):c.1568C>G (p.Thr523Arg)	USP36 (T523R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241494	NM_001385174.1(USP36):c.2548A>C (p.Lys850Gln)	USP36 (K640Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236143	NM_001385174.1(USP36):c.1942G>A (p.Ala648Thr)	USP36 (A438T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228664	NM_001385174.1(USP36):c.2573G>A (p.Ser858Asn)	USP36 (S693N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225475	NM_001385174.1(USP36):c.239C>T (p.Pro80Leu)	USP36 (P80L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2219995	NM_001385174.1(USP36):c.1334G>A (p.Arg445His)	USP36 (R226H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219831	NM_001385174.1(USP36):c.3062G>A (p.Arg1021Gln)	USP36 (R1021Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218770	NM_001385174.1(USP36):c.1643G>C (p.Arg548Thr)	USP36 (R338T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218364	NM_001385174.1(USP36):c.2345C>T (p.Thr782Met)	USP36 (T617M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214668	NM_001385174.1(USP36):c.2447T>C (p.Phe816Ser)	USP36 (F651S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206695	NM_001385174.1(USP36):c.1987G>A (p.Val663Met)	USP36 (V444M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526587	GRCh37/hg19 17q25.3(chr17:76770309-77174429)	C1QTNF1, CANT1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 789846	NM_001385174.1(USP36):c.423C>T (p.Thr141=)	USP36	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 788332	NM_001385174.1(USP36):c.1330G>A (p.Gly444Ser)	USP36 (G444S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 780469	NM_001385174.1(USP36):c.810C>T (p.Asp270=)	USP36	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 780454	NM_001385174.1(USP36):c.1038G>A (p.Pro346=)	USP36	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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