ClinVar for Gene (Select 85460) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3196429	NM_053042.3(ZNF518B):c.499T>C (p.Cys167Arg)	ZNF518B (C167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196428	NM_053042.3(ZNF518B):c.2791G>T (p.Asp931Tyr)	ZNF518B (D931Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196427	NM_053042.3(ZNF518B):c.2756T>G (p.Val919Gly)	ZNF518B (V919G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196426	NM_053042.3(ZNF518B):c.2725C>T (p.Arg909Cys)	ZNF518B (R909C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196425	NM_053042.3(ZNF518B):c.2684A>C (p.His895Pro)	ZNF518B (H895P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196424	NM_053042.3(ZNF518B):c.2641T>G (p.Ser881Ala)	ZNF518B (S881A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196423	NM_053042.3(ZNF518B):c.2530C>T (p.Arg844Trp)	ZNF518B (R844W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196422	NM_053042.3(ZNF518B):c.2472G>C (p.Gln824His)	ZNF518B (Q824H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196421	NM_053042.3(ZNF518B):c.2429C>G (p.Pro810Arg)	ZNF518B (P810R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196420	NM_053042.3(ZNF518B):c.2134G>A (p.Val712Met)	ZNF518B (V712M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196419	NM_053042.3(ZNF518B):c.1874A>T (p.Asn625Ile)	ZNF518B (N625I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196417	NM_053042.3(ZNF518B):c.1740C>G (p.His580Gln)	ZNF518B (H580Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196416	NM_053042.3(ZNF518B):c.1669A>C (p.Ser557Arg)	ZNF518B (S557R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196415	NM_053042.3(ZNF518B):c.1654G>A (p.Asp552Asn)	ZNF518B (D552N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	JAKMIP1, KIAA0232 +117 more	Copy number loss	not provided	GPathogenic
Select item 2921076	NM_053042.3(ZNF518B):c.1676T>C (p.Val559Ala)	ZNF518B (V559A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654670	NM_053042.3(ZNF518B):c.2517C>T (p.Ile839=)	ZNF518B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618376	NM_053042.3(ZNF518B):c.2291C>G (p.Ala764Gly)	ZNF518B (A764G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601340	NM_053042.3(ZNF518B):c.1094C>T (p.Pro365Leu)	ZNF518B (P365L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	ABLIM2, ACOX3 +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 2545864	NM_053042.3(ZNF518B):c.506A>T (p.Tyr169Phe)	ZNF518B (Y169F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542920	NM_053042.3(ZNF518B):c.2497A>G (p.Ile833Val)	ZNF518B (I833V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541695	NM_053042.3(ZNF518B):c.962A>G (p.Glu321Gly)	ZNF518B (E321G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541422	NM_053042.3(ZNF518B):c.1448G>A (p.Gly483Asp)	ZNF518B (G483D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533182	NM_053042.3(ZNF518B):c.3097C>G (p.Gln1033Glu)	ZNF518B (Q1033E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524914	NM_053042.3(ZNF518B):c.2689T>C (p.Ser897Pro)	ZNF518B (S897P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519874	NM_053042.3(ZNF518B):c.2068C>T (p.Arg690Cys)	ZNF518B (R690C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517733	NM_053042.3(ZNF518B):c.191A>G (p.Lys64Arg)	ZNF518B (K64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510305	NM_053042.3(ZNF518B):c.2504T>C (p.Met835Thr)	ZNF518B (M835T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493249	NM_053042.3(ZNF518B):c.3215A>G (p.Lys1072Arg)	ZNF518B (K1072R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477843	NM_053042.3(ZNF518B):c.76C>G (p.Gln26Glu)	ZNF518B (Q26E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475840	NM_053042.3(ZNF518B):c.916T>A (p.Phe306Ile)	ZNF518B (F306I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475221	NM_053042.3(ZNF518B):c.1601C>G (p.Pro534Arg)	ZNF518B (P534R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471647	NM_053042.3(ZNF518B):c.1273G>A (p.Val425Ile)	ZNF518B (V425I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405256	NM_053042.3(ZNF518B):c.2772A>C (p.Arg924Ser)	ZNF518B (R924S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399866	NM_053042.3(ZNF518B):c.1800A>G (p.Ile600Met)	ZNF518B (I600M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395518	NM_053042.3(ZNF518B):c.1150C>T (p.Arg384Cys)	ZNF518B (R384C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394030	NM_053042.3(ZNF518B):c.28A>G (p.Thr10Ala)	ZNF518B (T10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388914	NM_053042.3(ZNF518B):c.2605G>A (p.Gly869Arg)	ZNF518B (G869R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386663	NM_053042.3(ZNF518B):c.844A>C (p.Lys282Gln)	ZNF518B (K282Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380413	NM_053042.3(ZNF518B):c.164T>G (p.Met55Arg)	ZNF518B (M55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377327	NM_053042.3(ZNF518B):c.2884G>A (p.Val962Ile)	ZNF518B (V962I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372501	NM_053042.3(ZNF518B):c.1997G>A (p.Arg666His)	ZNF518B (R666H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369837	NM_053042.3(ZNF518B):c.1996C>T (p.Arg666Cys)	ZNF518B (R666C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362956	NM_053042.3(ZNF518B):c.2703C>G (p.Asn901Lys)	ZNF518B (N901K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358888	NM_053042.3(ZNF518B):c.3092C>T (p.Ser1031Phe)	ZNF518B (S1031F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356764	NM_053042.3(ZNF518B):c.1228G>A (p.Gly410Arg)	ZNF518B (G410R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354687	NM_053042.3(ZNF518B):c.2725C>A (p.Arg909Ser)	ZNF518B (R909S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346413	NM_053042.3(ZNF518B):c.2183C>T (p.Pro728Leu)	ZNF518B (P728L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337230	NM_053042.3(ZNF518B):c.1903T>A (p.Ser635Thr)	ZNF518B (S635T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324675	NM_053042.3(ZNF518B):c.2525C>G (p.Pro842Arg)	ZNF518B (P842R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321559	NM_053042.3(ZNF518B):c.2164G>A (p.Gly722Ser)	ZNF518B (G722S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295227	NM_053042.3(ZNF518B):c.2726G>A (p.Arg909His)	ZNF518B (R909H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2287041	NM_053042.3(ZNF518B):c.3045A>C (p.Lys1015Asn)	ZNF518B (K1015N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276332	NM_053042.3(ZNF518B):c.1058T>C (p.Val353Ala)	ZNF518B (V353A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260781	NM_053042.3(ZNF518B):c.1858A>C (p.Asn620His)	ZNF518B (N620H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255716	NM_053042.3(ZNF518B):c.1679A>G (p.Asn560Ser)	ZNF518B (N560S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2254114	NM_053042.3(ZNF518B):c.796C>A (p.His266Asn)	ZNF518B (H266N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244951	NM_053042.3(ZNF518B):c.1609T>C (p.Cys537Arg)	ZNF518B (C537R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239157	NM_053042.3(ZNF518B):c.2874T>A (p.Asn958Lys)	ZNF518B (N958K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237940	NM_053042.3(ZNF518B):c.1804A>G (p.Ile602Val)	ZNF518B (I602V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237696	NM_053042.3(ZNF518B):c.1768T>A (p.Ser590Thr)	ZNF518B (S590T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236141	NM_053042.3(ZNF518B):c.1000C>G (p.Pro334Ala)	ZNF518B (P334A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232409	NM_053042.3(ZNF518B):c.942A>C (p.Glu314Asp)	ZNF518B (E314D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229311	NM_053042.3(ZNF518B):c.1538T>G (p.Phe513Cys)	ZNF518B (F513C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228893	NM_053042.3(ZNF518B):c.2204G>T (p.Gly735Val)	ZNF518B (G735V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214774	NM_053042.3(ZNF518B):c.2594A>G (p.Tyr865Cys)	ZNF518B (Y865C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213818	NM_053042.3(ZNF518B):c.1873A>G (p.Asn625Asp)	ZNF518B (N625D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212958	NM_053042.3(ZNF518B):c.440C>T (p.Pro147Leu)	ZNF518B (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211602	NM_053042.3(ZNF518B):c.5A>T (p.Lys2Met)	ZNF518B (K2M)	Single nucleotide variant (missense variant)	not specified	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 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1340782	GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)x3	BOD1L1, BST1 +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340283	GRCh37/hg19 4p16.1(chr4:10017334-10723874)x3	CLNK, SLC2A9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1296905	NM_053042.3(ZNF518B):c.785G>C (p.Gly262Ala)	ZNF518B (G262A)	Single nucleotide variant (missense variant)	not provided	GBenign
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 980671	GRCh37/hg19 4p16.1(chr4:9748015-10942200)x3	DRD5, WDR1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 929828	GRCh37/hg19 4p16.1-15.33(chr4:9896293-13242797)x3	CLNK, HS3ST1 +3 more	Copy number gain	See cases	GUncertain significance
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 814535	GRCh37/hg19 4p16.1-15.33(chr4:10313041-14158188)x3	CLNK, NKX3-2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 814534	GRCh37/hg19 4p16.1(chr4:9544188-10738030)x3	SLC2A9, WDR1 +3 more	Copy number gain	not provided	GLikely benign
Select item 814533	GRCh37/hg19 4p16.1(chr4:9501650-10794722)x3	CLNK, DRD5 +3 more	Copy number gain	not provided	GLikely benign
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 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 688118	GRCh37/hg19 4p16.1(chr4:9663649-10767260)x3	CLNK, DRD5 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685795	GRCh37/hg19 4p16.1(chr4:9843086-10946046)x3	CLNK, SLC2A9 +2 more	Copy number gain	not provided	GUncertain significance

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