13044[HGNC] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
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 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 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
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 3335251	NM_001109689.4(ZNF250):c.1597G>A (p.Gly533Arg)	ZNF250 (G533R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237555	NM_001109689.4(ZNF250):c.1471G>A (p.Val491Met)	ZNF250 (V470M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257175	NM_001109689.4(ZNF250):c.1429A>G (p.Thr477Ala)	ZNF250 (T461A +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194668	NM_001109689.4(ZNF250):c.1264G>A (p.Glu422Lys)	ZNF250 (E401K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224076	NM_001109689.4(ZNF250):c.1240G>A (p.Glu414Lys)	ZNF250 (E393K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617458	NM_001109689.4(ZNF250):c.1116C>G (p.Ser372Arg)	ZNF250 (S377R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335250	NM_001109689.4(ZNF250):c.1107G>C (p.Lys369Asn)	ZNF250 (K374N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194666	NM_001109689.4(ZNF250):c.1096G>A (p.Glu366Lys)	ZNF250 (E350K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566247	NM_001109689.4(ZNF250):c.1024A>G (p.Thr342Ala)	ZNF250 (T347A +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194670	NM_001109689.4(ZNF250):c.856G>A (p.Ala286Thr)	ZNF250 (A270T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373080	NM_001109689.4(ZNF250):c.835G>A (p.Glu279Lys)	ZNF250 (E284K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475446	NM_001109689.4(ZNF250):c.785G>T (p.Ser262Ile)	ZNF250 (S241I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361836	NM_001109689.4(ZNF250):c.565A>T (p.Ser189Cys)	ZNF250 (S173C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335252	NM_001109689.4(ZNF250):c.545C>T (p.Thr182Ile)	ZNF250 (T161I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389134	NM_001109689.4(ZNF250):c.509G>A (p.Arg170His)	ZNF250 (R170H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368198	NM_001109689.4(ZNF250):c.508C>G (p.Arg170Gly)	ZNF250 (R154G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618938	NM_001109689.4(ZNF250):c.459T>A (p.Asn153Lys)	ZNF250 (N132K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454884	NM_001109689.4(ZNF250):c.404C>T (p.Ser135Leu)	ZNF250 (S119L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194669	NM_001109689.4(ZNF250):c.389C>T (p.Pro130Leu)	ZNF250 (P114L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251175	NM_001109689.4(ZNF250):c.307A>G (p.Thr103Ala)	ZNF250 (T108A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405801	NM_001109689.4(ZNF250):c.278A>G (p.Tyr93Cys)	ZNF250 (Y98C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602880	NM_001109689.4(ZNF250):c.262G>A (p.Gly88Ser)	ZNF250 (G93S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312135	NM_001109689.4(ZNF250):c.43-6T>G	ZNF250 (F18V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301476	NM_001109689.4(ZNF250):c.11C>G (p.Ala4Gly)	ZNF250 (A4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242323	GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3	ADCK5, ARHGAP39 +44 more	Copy number gain	not provided	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	GSDMC, LY6D +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 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	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +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 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 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	AARD, ABRA +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	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +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	SCRT1, SCX +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

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Items: 85