USP40[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +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	LOC122861320, LOC122889004 +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088830, LOC132088831 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	UGT1A6, UGT1A7 +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	LOC129935990, LOC129935991 +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	ACKR3, AGAP1 +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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2623635	NM_001365479.2(USP40):c.3256C>T (p.Pro1086Ser)	USP40 (P59S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2233090	NM_001365479.2(USP40):c.2990C>T (p.Thr997Met)	USP40 (T1017M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2599401	NM_001365479.2(USP40):c.960G>C (p.Gln320His)	USP40 (Q320H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2589462	NM_001365479.2(USP40):c.959A>C (p.Gln320Pro)	USP40 (Q320P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2384606	NM_001365479.2(USP40):c.907G>A (p.Gly303Arg)	USP40 (G303R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2398752	NM_001365479.2(USP40):c.887T>C (p.Ile296Thr)	USP40 (I296T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2344511	NM_001365479.2(USP40):c.824C>T (p.Pro275Leu)	USP40 (P275L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2606206	NM_001365479.2(USP40):c.586T>A (p.Ser196Thr)	USP40 (S196T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384151	NM_001365479.2(USP40):c.560A>G (p.Asp187Gly)	USP40 (D187G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374567	NM_001365479.2(USP40):c.538G>A (p.Glu180Lys)	USP40 (E180K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600115	NM_001365479.2(USP40):c.532G>A (p.Val178Ile)	USP40 (V178I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 786495	NM_001365479.2(USP40):c.429C>T (p.Ser143=)	USP40	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2591211	NM_001365479.2(USP40):c.416G>A (p.Arg139Gln)	USP40 (R139Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2652018	NM_001365479.2(USP40):c.258C>T (p.Pro86=)	USP40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2610327	NM_001365479.2(USP40):c.163C>T (p.Leu55Phe)	USP40 (L55F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611257	NM_001365479.2(USP40):c.124G>A (p.Gly42Arg)	USP40 (G42R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351594	NM_001365479.2(USP40):c.94C>T (p.Pro32Ser)	USP40 (P32S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459545	NM_001365479.2(USP40):c.52T>C (p.Tyr18His)	USP40 (Y18H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609331	NM_001365479.2(USP40):c.11A>T (p.Asp4Val)	USP40 (D4V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 1807604	GRCh37/hg19 2q37.1-37.3(chr2:233642145-237654870)x1	ACKR3, AGAP1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	ACKR3, AGAP1 +94 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526963	GRCh37/hg19 2q37.1-37.2(chr2:234390282-236327203)	ARL4C, DNAJB3 +15 more	Copy number loss	not specified	GUncertain significance
Select item 1526962	GRCh37/hg19 2q37.1(chr2:232215111-235593473)	ALPG, ALPI +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	ALPG, ALPI +54 more	Duplication	Joubert syndrome 22 +1 more	GUncertain significance
Select item 1340869	GRCh37/hg19 2q37.1(chr2:234376144-234598991)x1	DGKD, UGT1A10 +4 more	Copy number loss	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	KCNJ13, NGEF +97 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 980013	GRCh37/hg19 2q37.1(chr2:234154138-234421801)x3	USP40, ATG16L1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 816584	GRCh37/hg19 2q37.1(chr2:234154138-234477315)x3	SAG, ATG16L1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 816583	GRCh37/hg19 2q37.1-37.3(chr2:234090049-239494702)x1	RAB17, ASB1 +41 more	Copy number loss	not provided	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	ACKR3, ACSL3 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 441700	GRCh37/hg19 2q37.1(chr2:234401465-235250353)x1	DNAJB3, HJURP +13 more	Copy number loss	See cases	GUncertain significance
Select item 395404	GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1	ACKR3, AGAP1 +83 more	Copy number loss	See cases	GPathogenic

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Items: 96