55230[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 57177	GRCh38/hg38 2q37.1(chr2:233420162-233761780)x3	DGKD, DNAJB3 +16 more	Copy number gain	See cases	GUncertain significance
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 2269584	NM_001365479.2(USP40):c.3688A>T (p.Ile1230Phe)	USP40 (I1139F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610365	NM_001365479.2(USP40):c.3686C>G (p.Ser1229Cys)	USP40 (S1229C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475844	NM_001365479.2(USP40):c.3680C>G (p.Ser1227Cys)	USP40 (S200C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335843	NM_001365479.2(USP40):c.3671C>G (p.Pro1224Arg)	USP40 (P197R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187606	NM_001365479.2(USP40):c.3665G>A (p.Arg1222Gln)	USP40 (R1221Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223169	NM_001365479.2(USP40):c.3658C>T (p.Arg1220Trp)	USP40 (R1240W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211016	NM_001365479.2(USP40):c.3650C>T (p.Thr1217Met)	USP40 (T1217M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469542	NM_001365479.2(USP40):c.3625A>T (p.Ser1209Cys)	USP40 (S1118C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468258	NM_001365479.2(USP40):c.3577C>T (p.Arg1193Trp)	USP40 (R1192W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480565	NM_001365479.2(USP40):c.3557G>A (p.Gly1186Glu)	USP40 (G1206E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187605	NM_001365479.2(USP40):c.3520G>A (p.Asp1174Asn)	USP40 (D1173N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331549	NM_001365479.2(USP40):c.3407G>C (p.Trp1136Ser)	USP40 (W1135S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187604	NM_001365479.2(USP40):c.3400T>C (p.Ser1134Pro)	USP40 (S1134P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333827	NM_001365479.2(USP40):c.3367T>A (p.Tyr1123Asn)	USP40 (Y96N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457339	NM_001365479.2(USP40):c.3353T>C (p.Ile1118Thr)	USP40 (I1118T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381263	NM_001365479.2(USP40):c.3343G>A (p.Val1115Met)	USP40 (V1135M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331548	NM_001365479.2(USP40):c.3335G>A (p.Arg1112His)	USP40 (R1111H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285184	NM_001365479.2(USP40):c.3325G>T (p.Asp1109Tyr)	USP40 (D82Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187603	NM_001365479.2(USP40):c.3280G>A (p.Ala1094Thr)	USP40 (A1114T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2623635	NM_001365479.2(USP40):c.3256C>T (p.Pro1086Ser)	USP40 (P59S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331547	NM_001365479.2(USP40):c.3230G>A (p.Arg1077His)	USP40 (R1076H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187602	NM_001365479.2(USP40):c.3148C>T (p.Arg1050Trp)	USP40 (R1050W +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483332	NM_001365479.2(USP40):c.3122A>G (p.Gln1041Arg)	USP40 (Q989R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331555	NM_001365479.2(USP40):c.3103C>G (p.Leu1035Val)	USP40 (L1034V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520476	NM_001365479.2(USP40):c.3043G>A (p.Gly1015Ser)	USP40 (G1015S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331556	NM_001365479.2(USP40):c.3035T>G (p.Leu1012Arg)	USP40 (L1012R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187601	NM_001365479.2(USP40):c.2996C>T (p.Ala999Val)	USP40 (A908V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2233090	NM_001365479.2(USP40):c.2990C>T (p.Thr997Met)	USP40 (T1017M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478312	NM_001365479.2(USP40):c.2987C>T (p.Ala996Val)	USP40 (A905V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220905	NM_001365479.2(USP40):c.2943A>C (p.Gln981His)	USP40 (Q1001H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187600	NM_001365479.2(USP40):c.2942A>G (p.Gln981Arg)	USP40 (Q980R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331545	NM_001365479.2(USP40):c.2837C>T (p.Ser946Leu)	USP40 (S894L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187599	NM_001365479.2(USP40):c.2830G>T (p.Gly944Cys)	USP40 (G853C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373089	NM_001365479.2(USP40):c.2735T>A (p.Leu912His)	USP40 (L860H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387302	NM_001365479.2(USP40):c.2594A>C (p.Glu865Ala)	USP40 (E865A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602290	NM_001365479.2(USP40):c.2476A>T (p.Met826Leu)	USP40 (M826L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219281	NM_001365479.2(USP40):c.2441C>T (p.Pro814Leu)	USP40 (P813L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187597	NM_001365479.2(USP40):c.2432G>T (p.Cys811Phe)	USP40 (C810F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187595	NM_001365479.2(USP40):c.2342G>A (p.Arg781Gln)	USP40 (R690Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187594	NM_001365479.2(USP40):c.2170A>G (p.Ile724Val)	USP40 (I633V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3331542	NM_001365479.2(USP40):c.2105C>T (p.Thr702Met)	USP40 (T611M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3187593	NM_001365479.2(USP40):c.2036C>A (p.Thr679Lys)	USP40 (T678K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187592	NM_001365479.2(USP40):c.2024G>A (p.Gly675Asp)	USP40 (G584D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331552	NM_001365479.2(USP40):c.2002T>G (p.Phe668Val)	USP40 (F577V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187591	NM_001365479.2(USP40):c.1982T>C (p.Val661Ala)	USP40 (V660A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187590	NM_001365479.2(USP40):c.1924C>G (p.Leu642Val)	USP40 (L641V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187589	NM_001365479.2(USP40):c.1903A>G (p.Thr635Ala)	USP40 (T635A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331551	NM_001365479.2(USP40):c.1879G>A (p.Glu627Lys)	USP40 (E575K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215690	NM_001365479.2(USP40):c.1864G>T (p.Val622Leu)	USP40 (V570L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187588	NM_001365479.2(USP40):c.1829G>C (p.Cys610Ser)	USP40 (C519S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237178	NM_001365479.2(USP40):c.1745G>T (p.Gly582Val)	USP40 (G530V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187587	NM_001365479.2(USP40):c.1697T>C (p.Leu566Ser)	USP40 (L475S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187586	NM_001365479.2(USP40):c.1670A>G (p.Asp557Gly)	USP40 (D505G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529024	NM_001365479.2(USP40):c.1663G>A (p.Val555Met)	USP40 (V554M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2361759	NM_001365479.2(USP40):c.1600C>G (p.Leu534Val)	USP40 (L533V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187585	NM_001365479.2(USP40):c.1551A>C (p.Lys517Asn)	USP40 (K426N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529579	NM_001365479.2(USP40):c.1523A>T (p.Asp508Val)	USP40 (D417V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331550	NM_001365479.2(USP40):c.1501T>C (p.Cys501Arg)	USP40 (C449R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331546	NM_001365479.2(USP40):c.1378A>G (p.Ile460Val)	USP40 (I459V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187584	NM_001365479.2(USP40):c.1274A>G (p.Asn425Ser)	USP40 (N334S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319507	NM_001365479.2(USP40):c.1249C>G (p.Gln417Glu)	USP40 (Q417E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365790	NM_001365479.2(USP40):c.1226G>A (p.Arg409His)	USP40 (R318H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559214	NM_001365479.2(USP40):c.1223T>G (p.Val408Gly)	USP40 (V317G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269878	NM_001365479.2(USP40):c.1204A>G (p.Ser402Gly)	USP40 (S402G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540663	NM_001365479.2(USP40):c.1120G>C (p.Gly374Arg)	USP40 (G374R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612403	NM_001365479.2(USP40):c.1061A>G (p.Glu354Gly)	USP40 (E354G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331557	NM_001365479.2(USP40):c.1022T>C (p.Ile341Thr)	USP40 (I250T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225488	NM_001365479.2(USP40):c.1012G>A (p.Glu338Lys)	USP40 (E247K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599401	NM_001365479.2(USP40):c.960G>C (p.Gln320His)	USP40 (Q320H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589462	NM_001365479.2(USP40):c.959A>C (p.Gln320Pro)	USP40 (Q320P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384606	NM_001365479.2(USP40):c.907G>A (p.Gly303Arg)	USP40 (G303R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2398752	NM_001365479.2(USP40):c.887T>C (p.Ile296Thr)	USP40 (I296T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2344511	NM_001365479.2(USP40):c.824C>T (p.Pro275Leu)	USP40 (P275L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3331558	NM_001365479.2(USP40):c.782A>T (p.Glu261Val)	USP40 (E261V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187611	NM_001365479.2(USP40):c.760G>T (p.Val254Leu)	USP40 (V254L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 770515	NM_001365479.2(USP40):c.711G>A (p.Lys237=)	USP40	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2536649	NM_001365479.2(USP40):c.589G>A (p.Gly197Ser)	USP40 (G197S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606206	NM_001365479.2(USP40):c.586T>A (p.Ser196Thr)	USP40 (S196T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384151	NM_001365479.2(USP40):c.560A>G (p.Asp187Gly)	USP40 (D187G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374567	NM_001365479.2(USP40):c.538G>A (p.Glu180Lys)	USP40 (E180K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600115	NM_001365479.2(USP40):c.532G>A (p.Val178Ile)	USP40 (V178I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3187610	NM_001365479.2(USP40):c.479G>A (p.Arg160His)	USP40 (R160H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187609	NM_001365479.2(USP40):c.476A>G (p.Tyr159Cys)	USP40 (Y159C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786495	NM_001365479.2(USP40):c.429C>T (p.Ser143=)	USP40	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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