ClinVar for Gene (Select 84669) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	TEX14, TRIM25 +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	BCAS3, USP32 +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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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	LOC112533659, LOC112533660 +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	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 92