ClinVar for Gene (Select 7564) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3194136	NM_006958.3(ZNF16):c.698G>C (p.Gly233Ala)	ZNF16 (G233A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194135	NM_006958.3(ZNF16):c.698G>A (p.Gly233Glu)	ZNF16 (G93E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194134	NM_006958.3(ZNF16):c.679C>T (p.Arg227Cys)	ZNF16 (R227C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194133	NM_006958.3(ZNF16):c.673A>T (p.Ile225Phe)	ZNF16 (I85F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194132	NM_006958.3(ZNF16):c.553A>G (p.Met185Val)	ZNF16 (M45V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194131	NM_006958.3(ZNF16):c.527C>T (p.Thr176Ile)	ZNF16 (T176I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194130	NM_006958.3(ZNF16):c.389T>C (p.Leu130Pro)	ZNF16 (L130P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194129	NM_006958.3(ZNF16):c.232C>T (p.His78Tyr)	ZNF16 (H78Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194128	NM_006958.3(ZNF16):c.2004G>T (p.Gln668His)	ZNF16 (Q528H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194127	NM_006958.3(ZNF16):c.1955C>G (p.Thr652Ser)	ZNF16 (T512S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194126	NM_006958.3(ZNF16):c.1879C>T (p.Arg627Cys)	ZNF16 (R487C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194125	NM_006958.3(ZNF16):c.170C>G (p.Ala57Gly)	ZNF16 (A57G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194124	NM_006958.3(ZNF16):c.1561G>C (p.Glu521Gln)	ZNF16 (E381Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194123	NM_006958.3(ZNF16):c.1430G>A (p.Arg477Gln)	ZNF16 (R477Q +1 more)	Single nucleotide variant (missense variant)	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 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	LY6E, LY6H +173 more	Copy number gain	not provided	GPathogenic
Select item 2684563	GRCh37/hg19 8q24.3(chr8:146069087-146295771)x3	C8orf33, COMMD5 +2 more	Copy number gain	not provided	GUncertain significance
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 2659003	NM_006958.3(ZNF16):c.351C>T (p.Asp117=)	ZNF16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659002	NM_006958.3(ZNF16):c.376C>T (p.Leu126=)	ZNF16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2617327	NM_006958.3(ZNF16):c.993G>T (p.Arg331Ser)	ZNF16 (R331S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616643	NM_006958.3(ZNF16):c.433A>G (p.Arg145Gly)	ZNF16 (R145G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613121	NM_006958.3(ZNF16):c.950G>T (p.Ser317Ile)	ZNF16 (S317I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610950	NM_006958.3(ZNF16):c.776A>G (p.His259Arg)	ZNF16 (H119R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609536	NM_006958.3(ZNF16):c.1643C>T (p.Thr548Ile)	ZNF16 (T548I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547710	NM_006958.3(ZNF16):c.920G>A (p.Ser307Asn)	ZNF16 (S307N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522451	NM_006958.3(ZNF16):c.763C>T (p.Arg255Cys)	ZNF16 (R115C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519112	NM_006958.3(ZNF16):c.37A>T (p.Met13Leu)	ZNF16 (M13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517887	NM_006958.3(ZNF16):c.1253C>T (p.Ser418Phe)	ZNF16 (S278F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494692	NM_006958.3(ZNF16):c.1817G>A (p.Cys606Tyr)	ZNF16 (C466Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492919	NM_006958.3(ZNF16):c.2015T>C (p.Leu672Ser)	ZNF16 (L532S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482547	NM_006958.3(ZNF16):c.277T>C (p.Ser93Pro)	ZNF16 (S93P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2478947	NM_006958.3(ZNF16):c.1933A>G (p.Ile645Val)	ZNF16 (I505V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463938	NM_006958.3(ZNF16):c.1382A>G (p.His461Arg)	ZNF16 (H461R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463352	NM_006958.3(ZNF16):c.880A>G (p.Met294Val)	ZNF16 (M294V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454679	NM_006958.3(ZNF16):c.89G>A (p.Arg30His)	ZNF16 (R30H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2393676	NM_006958.3(ZNF16):c.2029T>A (p.Leu677Met)	ZNF16 (L537M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332963	NM_006958.3(ZNF16):c.415G>A (p.Ala139Thr)	ZNF16 (A139T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330811	NM_006958.3(ZNF16):c.980G>A (p.Gly327Glu)	ZNF16 (G187E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328689	NM_006958.3(ZNF16):c.1642A>T (p.Thr548Ser)	ZNF16 (T408S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324313	NM_006958.3(ZNF16):c.1589C>A (p.Ser530Tyr)	ZNF16 (S390Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316211	NM_006958.3(ZNF16):c.1154C>A (p.Ala385Asp)	ZNF16 (A245D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302711	NM_006958.3(ZNF16):c.1064G>T (p.Gly355Val)	ZNF16 (G215V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302598	NM_006958.3(ZNF16):c.1451C>T (p.Thr484Met)	ZNF16 (T344M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294264	NM_006958.3(ZNF16):c.1564T>A (p.Cys522Ser)	ZNF16 (C382S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291024	NM_006958.3(ZNF16):c.1688A>G (p.His563Arg)	ZNF16 (H563R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276826	NM_006958.3(ZNF16):c.1460A>G (p.Lys487Arg)	ZNF16 (K487R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256529	NM_006958.3(ZNF16):c.1973A>G (p.Asp658Gly)	ZNF16 (D518G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248037	NM_006958.3(ZNF16):c.482G>A (p.Arg161His)	ZNF16 (R161H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246837	NM_006958.3(ZNF16):c.1663A>C (p.Ser555Arg)	ZNF16 (S415R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239155	NM_006958.3(ZNF16):c.269C>G (p.Ala90Gly)	ZNF16 (A90G)	Single nucleotide variant (missense variant)	not specified	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 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 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 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	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	GML, GPAA1 +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	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	COLEC10, COMMD5 +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +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 394260	GRCh37/hg19 8q24.3(chr8:146157876-146231912)x3	ZNF16	Copy number gain	See cases	GLikely benign
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130001282, LOC130001283 +1552 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001328, LOC130001329 +1067 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001243, LOC130001244 +1204 more	Copy number gain	See cases	GPathogenic
Select item 152269	GRCh38/hg38 8q24.3(chr8:144925972-145010039)x3	LOC130001428, LOC130001429 +2 more	Copy number gain	See cases	GLikely benign
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1329 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1531 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	LOC126860527, LOC126860528 +499 more	Copy number gain	See cases	GPathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	MIR10400, MIR1234 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	LOC130001259, LOC130001260 +373 more	Copy number gain	See cases	GLikely pathogenic

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