ClinVar for Gene (Select 728393) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	USP17L10, USP17L11 +117 more	Copy number loss	not provided	GPathogenic
Select item 2622675	NM_201402.3(USP17L2):c.434C>T (p.Pro145Leu)	USP17L27 (P145L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596037	NM_201402.3(USP17L2):c.202C>T (p.Leu68Phe)	USP17L27 (L68F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588083	NM_201402.3(USP17L2):c.904G>A (p.Asp302Asn)	USP17L27 (D302N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	POLN, ZNF518B +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	ABLIM2, ACOX3 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2568049	NM_201402.3(USP17L2):c.535G>C (p.Gly179Arg)	USP17L27 (G179R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560817	NM_201402.3(USP17L2):c.31G>C (p.Glu11Gln)	USP17L27 (E11Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552289	NM_201402.3(USP17L2):c.318C>A (p.Asn106Lys)	USP17L27 (N106K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552020	NM_201402.3(USP17L2):c.1015G>A (p.Val339Ile)	USP17L27 (V339I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544446	NM_201402.3(USP17L2):c.863G>A (p.Gly288Asp)	USP17L27 (G288D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543539	NM_201402.3(USP17L2):c.937G>A (p.Gly313Arg)	USP17L27 (G313R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527647	NM_201402.3(USP17L2):c.497T>C (p.Met166Thr)	USP17L27 (M166T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495790	NM_201402.3(USP17L2):c.1451G>T (p.Ser484Ile)	USP17L27 (S484I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494139	NM_201402.3(USP17L2):c.1373C>A (p.Thr458Asn)	USP17L27 (T458N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488685	NM_201402.3(USP17L2):c.907A>T (p.Met303Leu)	USP17L27 (M303L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480748	NM_201402.3(USP17L2):c.1508G>A (p.Gly503Asp)	USP17L27 (G503D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477731	NM_201402.3(USP17L2):c.1262A>G (p.Asp421Gly)	USP17L27 (D421G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472520	NM_201402.3(USP17L2):c.1516G>A (p.Ala506Thr)	USP17L27 (A506T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469796	NM_201402.3(USP17L2):c.1268G>A (p.Arg423His)	USP17L27 (R423H)	Variation (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2466829	NM_201402.3(USP17L2):c.252T>G (p.Asn84Lys)	USP17L27 (N84K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464460	NM_201402.3(USP17L2):c.755A>T (p.Tyr252Phe)	USP17L27 (Y252F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457751	NM_201402.3(USP17L2):c.1241G>T (p.Cys414Phe)	USP17L27 (C414F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456068	NM_201402.3(USP17L2):c.255G>A (p.Met85Ile)	USP17L27 (M85I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455769	NM_201402.3(USP17L2):c.826C>G (p.Leu276Val)	USP17L27 (L276V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426319	NC_000004.11:g.(?_8869419)_(10118290_?)del	DEFB131A, DRD5 +22 more	Deletion	not provided	GUncertain significance
Select item 2390550	NM_201402.3(USP17L2):c.1533G>C (p.Arg511Ser)	USP17L27 (R511S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386652	NM_201402.3(USP17L2):c.779G>A (p.Arg260Lys)	USP17L27 (R260K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2383016	NM_201402.3(USP17L2):c.230C>T (p.Ala77Val)	USP17L27 (A77V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381281	NM_201402.3(USP17L2):c.769T>G (p.Cys257Gly)	USP17L27 (C257G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373909	NM_201402.3(USP17L2):c.1211C>T (p.Thr404Met)	USP17L27 (T404M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363778	NM_201402.3(USP17L2):c.522G>T (p.Lys174Asn)	USP17L27 (K174N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363334	NM_201402.3(USP17L2):c.1357A>G (p.Arg453Gly)	USP17L27 (R453G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363146	NM_201402.3(USP17L2):c.677A>G (p.Asp226Gly)	USP17L27 (D226G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360026	NM_201402.3(USP17L2):c.536G>C (p.Gly179Ala)	USP17L27 (G179A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358695	NM_201402.3(USP17L2):c.203T>C (p.Leu68Pro)	USP17L27 (L68P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352558	NM_201402.3(USP17L2):c.695G>C (p.Ser232Thr)	USP17L27 (S232T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350865	NM_201402.3(USP17L2):c.181C>A (p.Gln61Lys)	USP17L27 (Q61K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346626	NM_201402.3(USP17L2):c.185T>A (p.Leu62His)	USP17L27 (L62H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345865	NM_201402.3(USP17L2):c.355C>T (p.Arg119Cys)	USP17L27 (R119C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344632	NM_201402.3(USP17L2):c.482C>T (p.Ala161Val)	USP17L27 (A161V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343072	NM_201402.3(USP17L2):c.479A>G (p.Asp160Gly)	USP17L27 (D160G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342236	NM_201402.3(USP17L2):c.236G>A (p.Gly79Glu)	USP17L27 (G79E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340896	NM_201402.3(USP17L2):c.575T>A (p.Leu192His)	USP17L27 (L192H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332930	NM_201402.3(USP17L2):c.1267C>T (p.Arg423Cys)	USP17L27 (R423C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322008	NM_201402.3(USP17L2):c.1228A>G (p.Arg410Gly)	USP17L27 (R410G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308328	NM_201402.3(USP17L2):c.1246C>A (p.Gln416Lys)	USP17L27 (Q416K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300902	NM_201402.3(USP17L2):c.1417T>G (p.Cys473Gly)	USP17L27 (C473G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295415	NM_201402.3(USP17L2):c.935C>T (p.Thr312Ile)	USP17L27 (T312I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279282	NM_201402.3(USP17L2):c.696T>A (p.Ser232Arg)	USP17L27 (S232R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259851	NM_201402.3(USP17L2):c.80C>A (p.Ala27Glu)	USP17L27 (A27E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243966	NM_201402.3(USP17L2):c.302C>A (p.Thr101Lys)	USP17L27 (T101K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237743	NM_201402.3(USP17L2):c.430C>G (p.Gln144Glu)	USP17L27 (Q144E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232560	NM_201402.3(USP17L2):c.211A>G (p.Ser71Gly)	USP17L27 (S71G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225256	NM_201402.3(USP17L2):c.212G>C (p.Ser71Thr)	USP17L27 (S71T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223083	NM_201402.3(USP17L2):c.239C>A (p.Ala80Asp)	USP17L27 (A80D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219680	NM_201402.3(USP17L2):c.1475C>T (p.Thr492Met)	USP17L27 (S492L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216986	NM_201402.3(USP17L2):c.478G>T (p.Asp160Tyr)	USP17L27 (D160Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216490	NM_201402.3(USP17L2):c.829A>T (p.Ile277Phe)	USP17L27 (I277F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215468	NM_201402.3(USP17L2):c.1273G>T (p.Val425Leu)	USP17L27 (V425L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1527074	GRCh37/hg19 4p16.1(chr4:8683743-10358964)	DEFB131A, DRD5 +22 more	Copy number gain	not specified	GUncertain significance
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	CRMP1, RNF212 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814532	GRCh37/hg19 4p16.1(chr4:8724579-9953187)x3	USP17L18, USP17L17 +21 more	Copy number gain	not provided	GUncertain significance
Select item 814529	GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1	ABLIM2, ACOX3 +65 more	Copy number loss	not provided	GLikely pathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 685188	GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1	ABLIM2, ACOX3 +69 more	Copy number loss	not provided	GPathogenic
Select item 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	GPathogenic
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 443045	GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1	ABLIM2, ACOX3 +130 more	Copy number loss	See cases	GPathogenic
Select item 442536	GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1	ABLIM2, ACOX3 +120 more	Copy number loss	See cases	GPathogenic
Select item 442268	GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1	ABLIM2, ACOX3 +114 more	Copy number loss	See cases	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	AASDH, ABLIM2 +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 394281	GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1	ABLIM2, ACOX3 +121 more	Copy number loss	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
Select item 253400	GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3	LAP3, CC2D2A +71 more	Copy number gain	See cases	GPathogenic
Select item 219020	GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1	C4orf50, EVC +140 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	ABLIM2, ACOX3 +691 more	Copy number loss	See cases	GPathogenic

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