ClinVar for Gene (Select 340385) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3196384	NM_213605.3(ZNF517):c.964T>G (p.Cys322Gly)	ZNF517 (C322G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196383	NM_213605.3(ZNF517):c.790G>A (p.Gly264Ser)	ZNF517 (G264S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196382	NM_213605.3(ZNF517):c.760G>A (p.Val254Ile)	ZNF517 (V247I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196380	NM_213605.3(ZNF517):c.615C>G (p.Phe205Leu)	ZNF517 (F205L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196379	NM_213605.3(ZNF517):c.446C>T (p.Thr149Ile)	ZNF517 (T149I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196378	NM_213605.3(ZNF517):c.282G>C (p.Arg94Ser)	ZNF517 (R94S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196377	NM_213605.3(ZNF517):c.191C>A (p.Ser64Tyr)	ZNF517 (S64Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196376	NM_213605.3(ZNF517):c.178C>G (p.Pro60Ala)	ZNF517 (P60A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196375	NM_213605.3(ZNF517):c.1388G>A (p.Arg463Gln)	ZNF517 (R456Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196374	NM_213605.3(ZNF517):c.101A>G (p.Asp34Gly)	ZNF517 (D34G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196372	NM_213605.3(ZNF517):c.1010G>A (p.Arg337Gln)	ZNF517 (R330Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3063006	GRCh37/hg19 8q24.3(chr8:145738467-146076759)x3	ARHGAP39, C8orf82 +9 more	Copy number gain	not specified	GUncertain significance
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	OPLAH, PARP10 +173 more	Copy number gain	not provided	GPathogenic
Select item 2684562	GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3	ADCK5, ARHGAP39 +40 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2623416	NM_213605.3(ZNF517):c.473C>T (p.Ala158Val)	ZNF517 (A151V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2620410	NM_213605.3(ZNF517):c.385G>A (p.Gly129Arg)	ZNF517 (G122R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2618077	NM_213605.3(ZNF517):c.1295C>T (p.Ala432Val)	ZNF517 (A425V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554139	NM_213605.3(ZNF517):c.1397C>G (p.Thr466Ser)	ZNF517 (T459S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2550077	NM_213605.3(ZNF517):c.1409A>G (p.His470Arg)	ZNF517 (H470R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549737	NM_213605.3(ZNF517):c.253G>A (p.Ala85Thr)	ZNF517 (A85T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543615	NM_213605.3(ZNF517):c.508C>T (p.Pro170Ser)	ZNF517 (P163S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526960	NM_213605.3(ZNF517):c.758G>C (p.Arg253Pro)	ZNF517 (R246P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2520179	NM_213605.3(ZNF517):c.589A>G (p.Ile197Val)	ZNF517 (I190V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2476217	NM_213605.3(ZNF517):c.1384A>C (p.Ser462Arg)	ZNF517 (S455R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468162	NM_213605.3(ZNF517):c.530G>C (p.Arg177Pro)	ZNF517 (R170P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462372	NM_213605.3(ZNF517):c.541G>C (p.Val181Leu)	ZNF517 (V174L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370538	NM_213605.3(ZNF517):c.979A>C (p.Ile327Leu)	ZNF517 (I327L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365053	NM_213605.3(ZNF517):c.92T>G (p.Leu31Arg)	ZNF517 (L31R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358792	NM_213605.3(ZNF517):c.1447G>C (p.Glu483Gln)	ZNF517 (E476Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356458	NM_213605.3(ZNF517):c.469A>C (p.Ser157Arg)	ZNF517 (S157R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351771	NM_213605.3(ZNF517):c.1067G>A (p.Gly356Glu)	ZNF517 (G356E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337368	NM_213605.3(ZNF517):c.715G>A (p.Gly239Arg)	ZNF517 (G232R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2335038	NM_213605.3(ZNF517):c.472G>A (p.Ala158Thr)	ZNF517 (A158T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2327404	NM_213605.3(ZNF517):c.515G>A (p.Gly172Glu)	ZNF517 (G165E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2324906	NM_213605.3(ZNF517):c.983G>A (p.Arg328Gln)	ZNF517 (R321Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313024	NM_213605.3(ZNF517):c.922G>C (p.Gly308Arg)	ZNF517 (G308R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311641	NM_213605.3(ZNF517):c.896G>A (p.Cys299Tyr)	ZNF517 (C292Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2309630	NM_213605.3(ZNF517):c.751C>T (p.His251Tyr)	ZNF517 (H251Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297064	NM_213605.3(ZNF517):c.1124G>T (p.Arg375Met)	ZNF517 (R375M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2296331	NM_213605.3(ZNF517):c.922G>T (p.Gly308Cys)	ZNF517 (G301C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2289789	NM_213605.3(ZNF517):c.461G>A (p.Arg154Gln)	ZNF517 (R154Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2279749	NM_213605.3(ZNF517):c.94G>T (p.Ala32Ser)	ZNF517 (A32S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278915	NM_213605.3(ZNF517):c.669C>G (p.His223Gln)	ZNF517 (H223Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262124	NM_213605.3(ZNF517):c.539G>T (p.Cys180Phe)	ZNF517 (C180F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254887	NM_213605.3(ZNF517):c.85A>C (p.Ser29Arg)	ZNF517 (S29R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245656	NM_213605.3(ZNF517):c.292G>A (p.Gly98Arg)	ZNF517 (G98R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2233631	NM_213605.3(ZNF517):c.560G>C (p.Arg187Thr)	ZNF517 (R180T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2230402	NM_213605.3(ZNF517):c.1086G>C (p.Gln362His)	ZNF517 (Q362H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2229949	NM_213605.3(ZNF517):c.305C>G (p.Ser102Cys)	ZNF517 (S95C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808449	GRCh37/hg19 8q24.3(chr8:145899733-146107871)x3	COMMD5, RPL8 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1340886	GRCh37/hg19 8q24.3(chr8:145955469-146295771)x1	C8orf33, COMMD5 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1340222	GRCh37/hg19 8q24.3(chr8:145921005-146295771)x3	C8orf33, COMMD5 +7 more	Copy number gain	not provided	GUncertain significance
Select item 988937	GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3	HGH1, MIR1234 +44 more	Copy number gain	not provided	GUncertain significance
Select item 979858	GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3	ADCK5, ARHGAP39 +69 more	Copy number gain	not provided	GLikely pathogenic
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 687318	GRCh37/hg19 8q24.3(chr8:145939952-146050283)x3	RPL8, ZNF251 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687148	GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3	ADCK5, ARHGAP39 +70 more	Copy number gain	not provided	GUncertain significance
Select item 686463	GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	not provided	GPathogenic
Select item 686106	GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	ADCK5, ADGRB1 +99 more	Copy number gain	not provided	GPathogenic
Select item 685479	GRCh37/hg19 8q24.3(chr8:145897164-146109987)x3	COMMD5, RPL8 +5 more	Copy number gain	not provided	GUncertain significance
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 563531	GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3	ZFP41, ZFTRAF1 +80 more	Copy number gain	not provided	GPathogenic
Select item 563466	GRCh37/hg19 8q24.3(chr8:145778769-146025924)x3	ARHGAP39, RPL8 +3 more	Copy number gain	not provided	GLikely benign
Select item 523293	GRCh37/hg19 8q24.3(chr8:142840194-146280020)	CYP11B1, KIFC2 +86 more	Copy number gain	Intellectual disability	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	AARD, ADCK5 +172 more	Copy number gain	See cases	GPathogenic
Select item 442205	GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 441954	GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3	ADCK5, ARHGAP39 +50 more	Copy number gain	See cases	GUncertain significance
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394633	GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3	ADCK5, ADGRB1 +101 more	Copy number gain	See cases	GPathogenic
Select item 394371	GRCh37/hg19 8q24.3(chr8:146024873-146032490)x1	ZNF517	Copy number loss	See cases	GUncertain significance
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001415, LOC130001416 +1067 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic

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