20061[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 2594332	NM_020798.4(USP35):c.20C>T (p.Ala7Val)	USP35 (A7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621767	NM_020798.4(USP35):c.49G>T (p.Val17Leu)	USP35 (V17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187497	NM_020798.4(USP35):c.89G>A (p.Arg30Gln)	USP35 (R30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187498	NM_020798.4(USP35):c.95C>T (p.Pro32Leu)	USP35 (P32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331506	NM_020798.4(USP35):c.140G>A (p.Arg47His)	USP35 (R47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534720	NM_020798.4(USP35):c.162G>C (p.Glu54Asp)	USP35 (E54D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534721	NM_020798.4(USP35):c.222C>A (p.Asp74Glu)	USP35 (D74E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187489	NM_020798.4(USP35):c.271G>C (p.Gly91Arg)	USP35 (G91R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187491	NM_020798.4(USP35):c.475C>T (p.Pro159Ser)	USP35 (P159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555381	NM_020798.4(USP35):c.482G>T (p.Arg161Leu)	USP35 (R161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187492	NM_020798.4(USP35):c.608G>C (p.Trp203Ser)	USP35 (W203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364520	NM_020798.4(USP35):c.611G>T (p.Arg204Leu)	USP35 (R204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187493	NM_020798.4(USP35):c.625G>T (p.Ala209Ser)	USP35 (A209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187494	NM_020798.4(USP35):c.649C>G (p.Leu217Val)	USP35 (L217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187495	NM_020798.4(USP35):c.763G>A (p.Asp255Asn)	USP35 (D255N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300190	NM_020798.4(USP35):c.770G>C (p.Ser257Thr)	USP35 (S257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187496	NM_020798.4(USP35):c.815A>G (p.Asp272Gly)	USP35 (D272G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331505	NM_020798.4(USP35):c.898A>G (p.Ser300Gly)	USP35 (S300G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307023	NM_020798.4(USP35):c.967C>T (p.Arg323Trp)	USP35 (R323W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358273	NM_020798.4(USP35):c.998T>C (p.Met333Thr)	USP35 (M333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526797	NM_020798.4(USP35):c.1021C>T (p.His341Tyr)	USP35 (H341Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187478	NM_020798.4(USP35):c.1035C>G (p.His345Gln)	USP35 (H345Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241474	NM_020798.4(USP35):c.1067C>T (p.Ala356Val)	USP35 (A356V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569973	NM_020798.4(USP35):c.1085A>T (p.Asp362Val)	USP35 (D362V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187479	NM_020798.4(USP35):c.1094C>T (p.Ser365Leu)	USP35 (S365L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616093	NM_020798.4(USP35):c.1161C>A (p.Phe387Leu)	USP35 (F387L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187480	NM_020798.4(USP35):c.1270G>A (p.Glu424Lys)	USP35 (E424K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342266	NM_020798.4(USP35):c.1272G>T (p.Glu424Asp)	USP35 (E424D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207928	NM_020798.4(USP35):c.1358A>G (p.Asn453Ser)	USP35 (N453S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516681	NM_020798.4(USP35):c.1399C>T (p.His467Tyr)	USP35 (H467Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260576	NM_020798.4(USP35):c.1425C>A (p.Asn475Lys)	USP35 (N475K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475595	NM_020798.4(USP35):c.1454A>T (p.Gln485Leu)	USP35 (Q485L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187481	NM_020798.4(USP35):c.1486C>T (p.Arg496Trp)	USP35 (R496W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406582	NM_020798.4(USP35):c.1529C>T (p.Thr510Met)	USP35 (T510M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603700	NM_020798.4(USP35):c.1559A>T (p.Asp520Val)	USP35 (D520V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549295	NM_020798.4(USP35):c.1673C>T (p.Pro558Leu)	USP35 (P558L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460917	NM_020798.4(USP35):c.1696G>A (p.Val566Met)	USP35 (V566M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218272	NM_020798.4(USP35):c.1763C>G (p.Ser588Cys)	USP35 (S588C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616720	NM_020798.4(USP35):c.1765C>T (p.Arg589Trp)	USP35 (R589W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599429	NM_020798.4(USP35):c.1795G>A (p.Ala599Thr)	USP35 (A599T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311870	NM_020798.4(USP35):c.1822C>A (p.Arg608Ser)	USP35 (R608S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314694	NM_020798.4(USP35):c.1849C>T (p.Pro617Ser)	USP35 (P617S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187482	NM_020798.4(USP35):c.1870C>T (p.Arg624Trp)	USP35 (R624W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187483	NM_020798.4(USP35):c.1904C>A (p.Pro635Gln)	USP35 (P635Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491002	NM_020798.4(USP35):c.1955C>A (p.Thr652Asn)	USP35 (T652N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187484	NM_020798.4(USP35):c.1957C>A (p.Pro653Thr)	USP35 (P653T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614893	NM_020798.4(USP35):c.1975A>C (p.Ile659Leu)	USP35 (I659L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594872	NM_020798.4(USP35):c.1976T>C (p.Ile659Thr)	USP35 (I659T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281640	NM_020798.4(USP35):c.1978G>A (p.Glu660Lys)	USP35 (E660K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331500	NM_020798.4(USP35):c.2047G>A (p.Gly683Arg)	USP35 (G683R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351248	NM_020798.4(USP35):c.2060G>A (p.Arg687Lys)	USP35 (R687K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331503	NM_020798.4(USP35):c.2099C>T (p.Thr700Ile)	USP35 (T700I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187485	NM_020798.4(USP35):c.2221C>T (p.His741Tyr)	USP35 (H741Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331504	NM_020798.4(USP35):c.2225C>A (p.Pro742Gln)	USP35 (P742Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526862	NM_020798.4(USP35):c.2281G>A (p.Val761Ile)	USP35 (V761I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359588	NM_020798.4(USP35):c.2311C>G (p.Pro771Ala)	USP35 (P771A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708109	NM_020798.4(USP35):c.2346C>T (p.Cys782=)	USP35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3187486	NM_020798.4(USP35):c.2467A>G (p.Ile823Val)	USP35 (I823V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384457	NM_020798.4(USP35):c.2474A>G (p.Asp825Gly)	USP35 (D825G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211979	NM_020798.4(USP35):c.2479G>A (p.Val827Ile)	USP35 (V827I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187487	NM_020798.4(USP35):c.2500C>T (p.Arg834Cys)	USP35 (R834C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392317	NM_020798.4(USP35):c.2522G>A (p.Arg841His)	USP35 (R841H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463749	NM_020798.4(USP35):c.2559C>G (p.His853Gln)	USP35 (H853Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258595	NM_020798.4(USP35):c.2602C>T (p.Arg868Cys)	USP35 (R868C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552290	NM_020798.4(USP35):c.2603G>C (p.Arg868Pro)	USP35 (R868P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642199	NM_020798.4(USP35):c.2625C>T (p.Ala875=)	USP35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2465659	NM_020798.4(USP35):c.2638A>G (p.Thr880Ala)	USP35 (T880A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187488	NM_020798.4(USP35):c.2651C>T (p.Pro884Leu)	USP35 (P884L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264701	NM_020798.4(USP35):c.2659G>A (p.Glu887Lys)	USP35 (E887K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2338621	NM_020798.4(USP35):c.2681A>G (p.Asn894Ser)	USP35 (N894S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287215	NM_020798.4(USP35):c.2692G>A (p.Val898Met)	USP35 (V898M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336453	NM_020798.4(USP35):c.2710G>C (p.Glu904Gln)	USP35 (E904Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620402	NM_020798.4(USP35):c.2725G>A (p.Val909Ile)	USP35 (V909I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187490	NM_020798.4(USP35):c.2776C>T (p.Arg926Trp)	USP35 (R926W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358197	NM_020798.4(USP35):c.2822G>A (p.Arg941Gln)	USP35 (R941Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331507	NM_020798.4(USP35):c.2824A>T (p.Thr942Ser)	USP35 (T942S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331501	NM_020798.4(USP35):c.2857G>A (p.Ala953Thr)	USP35 (A953T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523534	NM_020798.4(USP35):c.2894A>G (p.Gln965Arg)	USP35 (Q965R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346285	NM_020798.4(USP35):c.2908C>T (p.Arg970Trp)	USP35 (R970W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241025	NM_020798.4(USP35):c.2939C>T (p.Pro980Leu)	USP35 (P980L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508494	NM_020798.4(USP35):c.2948C>T (p.Pro983Leu)	USP35 (P983L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303456	NM_020798.4(USP35):c.2957G>T (p.Gly986Val)	USP35 (G986V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248034	NM_020798.4(USP35):c.2996C>T (p.Ser999Phe)	USP35 (S999F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378725	NM_020798.4(USP35):c.3011A>G (p.Asn1004Ser)	USP35 (N1004S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359004	NM_020798.4(USP35):c.3019G>T (p.Gly1007Cys)	USP35 (G1007C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301360	NM_020798.4(USP35):c.3029G>A (p.Gly1010Asp)	USP35 (G1010D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280361	NM_080491.3(GAB2):c.2024A>G (p.Lys675Arg)	GAB2, USP35 (K675R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713425	NM_080491.3(GAB2):c.2022C>T (p.Ala674=)	GAB2, USP35	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 787094	NM_080491.3(GAB2):c.1947G>A (p.Glu649=)	GAB2, USP35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3097759	NM_080491.3(GAB2):c.1903G>A (p.Val635Ile)	GAB2, USP35 (V597I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383545	NM_080491.3(GAB2):c.1883G>A (p.Arg628His)	GAB2, USP35 (R590H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261243	NM_080491.3(GAB2):c.1883G>C (p.Arg628Pro)	GAB2, USP35 (R628P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280359	NM_080491.3(GAB2):c.1870C>G (p.Pro624Ala)	GAB2, USP35 (P624A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097758	NM_080491.3(GAB2):c.1801A>G (p.Asn601Asp)	GAB2, USP35 (N601D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097757	NM_080491.3(GAB2):c.1759A>G (p.Met587Val)	GAB2, USP35 (M587V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323734	NM_080491.3(GAB2):c.1706C>A (p.Thr569Asn)	GAB2, USP35 (T531N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097755	NM_080491.3(GAB2):c.1666T>A (p.Phe556Ile)	GAB2, USP35 (F556I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722439	NM_080491.3(GAB2):c.1658+8C>T	GAB2, USP35	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign

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