ClinVar for Gene (Select 84669) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331458	NM_032582.4(USP32):c.348G>A (p.Met116Ile)	USP32 (M116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331457	NM_032582.4(USP32):c.4340G>A (p.Arg1447Gln)	USP32 (R1447Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331456	NM_032582.4(USP32):c.4320G>T (p.Glu1440Asp)	USP32 (E1440D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331455	NM_032582.4(USP32):c.64G>C (p.Asp22His)	USP32 (D22H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331454	NM_032582.4(USP32):c.1487A>G (p.Asn496Ser)	USP32 (N496S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331453	NM_032582.4(USP32):c.2962G>A (p.Val988Met)	USP32 (V988M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331452	NM_032582.4(USP32):c.2362G>C (p.Gly788Arg)	USP32 (G788R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331451	NM_032582.4(USP32):c.4198C>T (p.Arg1400Trp)	USP32 (R1400W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187427	NM_032582.4(USP32):c.838C>T (p.Arg280Cys)	USP32 (R280C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187426	NM_032582.4(USP32):c.635C>T (p.Thr212Ile)	USP32 (T212I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187425	NM_032582.4(USP32):c.604C>T (p.Arg202Cys)	USP32 (R202C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187424	NM_032582.4(USP32):c.4409A>G (p.Asn1470Ser)	USP32 (N1470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187423	NM_032582.4(USP32):c.4199G>A (p.Arg1400Gln)	USP32 (R1400Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187422	NM_032582.4(USP32):c.4066G>T (p.Val1356Leu)	USP32 (V1356L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187421	NM_032582.4(USP32):c.3908G>A (p.Arg1303Gln)	USP32 (R1303Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187420	NM_032582.4(USP32):c.3731G>A (p.Ser1244Asn)	USP32 (S1244N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187419	NM_032582.4(USP32):c.3362C>G (p.Ala1121Gly)	USP32 (A1121G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187418	NM_032582.4(USP32):c.2696T>G (p.Ile899Arg)	USP32 (I899R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187417	NM_032582.4(USP32):c.1871A>G (p.Asn624Ser)	USP32 (N624S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187416	NM_032582.4(USP32):c.1852A>T (p.Ile618Phe)	USP32 (I618F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187415	NM_032582.4(USP32):c.1483C>T (p.His495Tyr)	USP32 (H495Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187414	NM_032582.4(USP32):c.1464T>A (p.Asp488Glu)	USP32 (D488E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187412	NM_032582.4(USP32):c.1267T>C (p.Ser423Pro)	USP32 (S423P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187411	NM_032582.4(USP32):c.1240G>A (p.Asp414Asn)	USP32 (D414N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685604	GRCh37/hg19 17q23.1-23.2(chr17:58111095-60355640)x1	APPBP2, BCAS3 +12 more	Copy number loss	not provided	GPathogenic
Select item 2624086	NM_032582.4(USP32):c.2071A>C (p.Lys691Gln)	USP32 (K691Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621329	NM_032582.4(USP32):c.218A>G (p.Lys73Arg)	USP32 (K73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620811	NM_032582.4(USP32):c.3955C>G (p.Leu1319Val)	USP32 (L1319V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619792	NM_032582.4(USP32):c.2118T>A (p.Asp706Glu)	USP32 (D706E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618411	NM_032582.4(USP32):c.3620G>A (p.Arg1207His)	USP32 (R1207H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604534	NM_032582.4(USP32):c.3860T>G (p.Phe1287Cys)	USP32 (F1287C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600929	NM_032582.4(USP32):c.1412C>T (p.Ala471Val)	USP32 (A471V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594423	NM_032582.4(USP32):c.2756T>C (p.Met919Thr)	USP32 (M919T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590202	NM_032582.4(USP32):c.3811C>A (p.Leu1271Ile)	USP32 (L1271I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560407	NM_032582.4(USP32):c.934C>T (p.His312Tyr)	USP32 (H312Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558963	NM_032582.4(USP32):c.1889C>G (p.Ala630Gly)	USP32 (A630G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555549	NM_032582.4(USP32):c.691T>A (p.Ser231Thr)	USP32 (S231T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552428	NM_032582.4(USP32):c.4573G>A (p.Gly1525Ser)	USP32 (G1525S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535305	NM_032582.4(USP32):c.1263G>C (p.Glu421Asp)	USP32 (E421D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525588	NM_032582.4(USP32):c.3888G>T (p.Gln1296His)	USP32 (Q1296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521066	NM_032582.4(USP32):c.3778A>G (p.Lys1260Glu)	USP32 (K1260E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519011	NM_032582.4(USP32):c.631C>T (p.Arg211Trp)	USP32 (R211W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516820	NM_032582.4(USP32):c.4288A>G (p.Ser1430Gly)	USP32 (S1430G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507467	NM_032582.4(USP32):c.4652C>T (p.Pro1551Leu)	USP32 (P1551L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494690	NM_032582.4(USP32):c.4471C>T (p.His1491Tyr)	USP32 (H1491Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483356	NM_032582.4(USP32):c.1864A>G (p.Met622Val)	USP32 (M622V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468921	NM_032582.4(USP32):c.713A>G (p.Asn238Ser)	USP32 (N238S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468178	NM_032582.4(USP32):c.53G>A (p.Arg18Lys)	USP32 (R18K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466111	NM_032582.4(USP32):c.935A>G (p.His312Arg)	USP32 (H312R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424709	NC_000017.10:g.(?_58227396)_(59938900_?)del	APPBP2, BCAS3 +9 more	Deletion	not provided	GUncertain significance
Select item 2423351	NC_000017.10:g.(?_58227396)_(59938900_?)dup	APPBP2, BCAS3 +9 more	Duplication	not provided	GUncertain significance
Select item 2409426	NM_032582.4(USP32):c.868A>G (p.Arg290Gly)	USP32 (R290G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406194	NM_032582.4(USP32):c.3341G>A (p.Arg1114Gln)	USP32 (R1114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393396	NM_032582.4(USP32):c.1360G>A (p.Val454Met)	USP32 (V454M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390554	NM_032582.4(USP32):c.46G>T (p.Ala16Ser)	USP32 (A16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386919	NM_032582.4(USP32):c.245T>C (p.Val82Ala)	USP32 (V82A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368048	NM_032582.4(USP32):c.1979G>A (p.Arg660His)	USP32 (R660H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365140	NM_032582.4(USP32):c.757A>C (p.Ile253Leu)	USP32 (I253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350948	NM_032582.4(USP32):c.4043A>G (p.Gln1348Arg)	USP32 (Q1348R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346495	NM_032582.4(USP32):c.4451G>A (p.Ser1484Asn)	USP32 (S1484N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344633	NM_032582.4(USP32):c.670G>C (p.Val224Leu)	USP32 (V224L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342889	NM_032582.4(USP32):c.2408C>T (p.Ala803Val)	USP32 (A803V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336140	NM_032582.4(USP32):c.3010A>G (p.Ile1004Val)	USP32 (I1004V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332589	NM_032582.4(USP32):c.1192A>G (p.Ile398Val)	USP32 (I398V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326913	NM_032582.4(USP32):c.1297T>C (p.Phe433Leu)	USP32 (F433L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298809	NM_032582.4(USP32):c.1382T>C (p.Phe461Ser)	USP32 (F461S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293135	NM_032582.4(USP32):c.2774T>C (p.Val925Ala)	USP32 (V925A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287470	NM_032582.4(USP32):c.4656T>A (p.Asp1552Glu)	USP32 (D1552E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287254	NM_032582.4(USP32):c.4247G>A (p.Ser1416Asn)	USP32 (S1416N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268827	NM_032582.4(USP32):c.2600C>T (p.Ala867Val)	USP32 (A867V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267980	NM_032582.4(USP32):c.1030G>A (p.Val344Met)	USP32 (V344M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264583	NM_032582.4(USP32):c.3581A>G (p.Tyr1194Cys)	USP32 (Y1194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256096	NM_032582.4(USP32):c.1883C>T (p.Pro628Leu)	USP32 (P628L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245890	NM_032582.4(USP32):c.2052T>A (p.Asp684Glu)	USP32 (D684E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245889	NM_032582.4(USP32):c.2043T>G (p.Asp681Glu)	USP32 (D681E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229829	NM_032582.4(USP32):c.3067A>C (p.Met1023Leu)	USP32 (M1023L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224950	NM_032582.4(USP32):c.3718C>T (p.Arg1240Cys)	USP32 (R1240C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214508	NM_032582.4(USP32):c.1664A>G (p.His555Arg)	USP32 (H555R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703621	GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067)	APPBP2, BCAS3 +12 more	Copy number gain	Familial clubfoot due to 17q23.1q23.2 microduplication	GLikely pathogenic
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1340823	GRCh37/hg19 17q23.1-23.2(chr17:57605300-59389547)x1	APPBP2, BCAS3 +13 more	Copy number loss	not provided	GPathogenic
Select item 974763	NC_000017.10:g.58076721_60362868del	APPBP2, BCAS3 +12 more	Deletion	Megacolon	GLikely pathogenic
Select item 815944	GRCh37/hg19 17q23.1-23.2(chr17:58111094-58359510)x3	CA4, USP32 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688153	GRCh37/hg19 17q23.2(chr17:58345523-58736414)x3	APPBP2, CHCT1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625757	GRCh37/hg19 17q23.1-23.2(chr17:58121190-60140614)	APPBP2, BCAS3 +12 more	Copy number gain	not provided	GLikely pathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 624475	GRCh37/hg19 17q23.2(chr17:58390128-58589055)x3	CHCT1, APPBP2 +1 more	Copy number gain	not provided	GLikely benign
Select item 564457	GRCh37/hg19 17q23.2(chr17:58388728-60486746)x1	BCAS3, LINC02875 +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 443558	GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1	APPBP2, BCAS3 +29 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 146527	GRCh38/hg38 17q23.2(chr17:60255192-62237942)x1	APPBP2, APPBP2-DT +49 more	Copy number loss	See cases	GPathogenic
Select item 57542	GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1	APPBP2, APPBP2-DT +61 more	Copy number loss	See cases	GPathogenic
Select item 57455	GRCh38/hg38 17q23.1-23.2(chr17:60095339-62237942)x1	APPBP2, APPBP2-DT +56 more	Copy number loss	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 100