ClinVar for Gene (Select 57663) - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331432	NM_020903.3(USP29):c.1405A>G (p.Ile469Val)	USP29 (I469V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331431	NM_020903.3(USP29):c.1591A>G (p.Ile531Val)	USP29 (I531V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331430	NM_020903.3(USP29):c.1730T>C (p.Leu577Ser)	USP29 (L577S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331429	NM_020903.3(USP29):c.547A>C (p.Ile183Leu)	USP29 (I183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331427	NM_020903.3(USP29):c.47A>G (p.Lys16Arg)	USP29 (K16R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3331426	NM_020903.3(USP29):c.508C>A (p.Gln170Lys)	USP29 (Q170K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3331425	NM_020903.3(USP29):c.1132G>A (p.Gly378Ser)	USP29 (G378S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331424	NM_020903.3(USP29):c.643G>A (p.Asp215Asn)	USP29 (D215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187363	NM_020903.3(USP29):c.944C>T (p.Thr315Ile)	USP29 (T315I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187362	NM_020903.3(USP29):c.810C>G (p.Asn270Lys)	USP29 (N270K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187361	NM_020903.3(USP29):c.536C>G (p.Thr179Arg)	USP29 (T179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187360	NM_020903.3(USP29):c.338C>A (p.Ser113Tyr)	USP29 (S113Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187358	NM_020903.3(USP29):c.2353G>T (p.Gly785Trp)	USP29 (G785W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187357	NM_020903.3(USP29):c.2162A>G (p.Asn721Ser)	USP29 (N721S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187356	NM_020903.3(USP29):c.2138A>G (p.Asn713Ser)	USP29 (N713S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187355	NM_020903.3(USP29):c.2126C>T (p.Thr709Ile)	USP29 (T709I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187354	NM_020903.3(USP29):c.1985T>C (p.Met662Thr)	USP29 (M662T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187353	NM_020903.3(USP29):c.1775T>C (p.Val592Ala)	USP29 (V592A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187352	NM_020903.3(USP29):c.1742T>C (p.Met581Thr)	USP29 (M581T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187351	NM_020903.3(USP29):c.1679G>A (p.Cys560Tyr)	USP29 (C560Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187350	NM_020903.3(USP29):c.1631G>T (p.Ser544Ile)	USP29 (S544I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187349	NM_020903.3(USP29):c.1400T>G (p.Leu467Trp)	USP29 (L467W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187348	NM_020903.3(USP29):c.1089A>T (p.Glu363Asp)	USP29 (E363D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062375	GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1	CCDC106, DUXA +36 more	Copy number loss	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2650568	NM_020903.3(USP29):c.2370C>A (p.Asp790Glu)	USP29 (D790E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650567	NM_020903.3(USP29):c.1578C>T (p.Asn526=)	USP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618223	NM_020903.3(USP29):c.1340A>G (p.Lys447Arg)	USP29 (K447R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617248	NM_020903.3(USP29):c.167A>T (p.Asn56Ile)	USP29 (N56I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612142	NM_020903.3(USP29):c.1461G>T (p.Gln487His)	USP29 (Q487H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606275	NM_020903.3(USP29):c.1481G>T (p.Cys494Phe)	USP29 (C494F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592649	NM_020903.3(USP29):c.2669A>C (p.Glu890Ala)	USP29 (E890A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588330	NM_020903.3(USP29):c.1208A>T (p.Asp403Val)	USP29 (D403V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569120	NM_020903.3(USP29):c.1783G>A (p.Val595Ile)	USP29 (V595I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556772	NM_020903.3(USP29):c.593A>T (p.Asp198Val)	USP29 (D198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555996	NM_020903.3(USP29):c.1589A>G (p.Tyr530Cys)	USP29 (Y530C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543370	NM_020903.3(USP29):c.2692T>G (p.Ser898Ala)	USP29 (S898A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539178	NM_020903.3(USP29):c.2647A>G (p.Met883Val)	USP29 (M883V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533508	NM_020903.3(USP29):c.545A>G (p.Asp182Gly)	USP29 (D182G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526706	NM_020903.3(USP29):c.1544G>A (p.Ser515Asn)	USP29 (S515N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519593	NM_020903.3(USP29):c.550C>G (p.Leu184Val)	USP29 (L184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513587	NM_020903.3(USP29):c.118G>A (p.Val40Ile)	USP29 (V40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508332	NM_020903.3(USP29):c.1303T>G (p.Ser435Ala)	USP29 (S435A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482663	NM_020903.3(USP29):c.2101G>T (p.Val701Leu)	USP29 (V701L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478848	NM_020903.3(USP29):c.1794C>A (p.Asp598Glu)	USP29 (D598E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468321	NM_020903.3(USP29):c.2677A>G (p.Arg893Gly)	USP29 (R893G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467139	NM_020903.3(USP29):c.5T>C (p.Ile2Thr)	USP29 (I2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464734	NM_020903.3(USP29):c.2153G>A (p.Cys718Tyr)	USP29 (C718Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407146	NM_020903.3(USP29):c.605A>G (p.Tyr202Cys)	USP29 (Y202C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398797	NM_020903.3(USP29):c.2440G>A (p.Val814Met)	USP29 (V814M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378608	NM_020903.3(USP29):c.133G>A (p.Gly45Arg)	USP29 (G45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364618	NM_020903.3(USP29):c.1120C>T (p.His374Tyr)	USP29 (H374Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352199	NM_020903.3(USP29):c.2232T>A (p.Asp744Glu)	USP29 (D744E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2346589	NM_020903.3(USP29):c.1031C>A (p.Thr344Lys)	USP29 (T344K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345186	NM_020903.3(USP29):c.2717G>C (p.Gly906Ala)	USP29 (G906A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341570	NM_020903.3(USP29):c.142A>G (p.Ile48Val)	USP29 (I48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337436	NM_020903.3(USP29):c.1951C>A (p.Leu651Met)	USP29 (L651M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335946	NM_020903.3(USP29):c.1990G>A (p.Glu664Lys)	USP29 (E664K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335945	NM_020903.3(USP29):c.1176T>G (p.Asn392Lys)	USP29 (N392K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333934	NM_020903.3(USP29):c.1891G>C (p.Glu631Gln)	USP29 (E631Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333933	NM_020903.3(USP29):c.1287G>C (p.Glu429Asp)	USP29 (E429D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311012	NM_020903.3(USP29):c.961G>A (p.Glu321Lys)	USP29 (E321K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292311	NM_020903.3(USP29):c.2222G>T (p.Ser741Ile)	USP29 (S741I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249285	NM_020903.3(USP29):c.1066A>G (p.Lys356Glu)	USP29 (K356E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784552	NM_020903.3(USP29):c.621G>A (p.Arg207=)	USP29	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726289	NM_020903.3(USP29):c.2696G>A (p.Arg899Gln)	USP29 (R899Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 688240	GRCh37/hg19 19q13.43(chr19:57395831-57679329)x3	DUXA, USP29 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685831	GRCh37/hg19 19q13.43(chr19:57590808-57745390)x3	AURKC, DUXA +3 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 560105	Single allele	ZNF805, ZNF17 +11 more	Duplication	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 221405	GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1	NLRP5, NLRP8 +26 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221354	chr19:56133299..57648277 complex variant	NLRP4, CCDC106 +31 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 152852	GRCh38/hg38 19q13.43(chr19:56879333-57167550)x3	DUXA, LOC112553119 +3 more	Copy number gain	See cases	GUncertain significance
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 88