ClinVar for Gene (Select 6132) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3156116	NM_001317782.2(RPL8):c.752C>A (p.Thr251Asn)	RPL8 (T251N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156114	NM_001317782.2(RPL8):c.29A>G (p.Lys10Arg)	LOC130001419, RPL8 (K10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156113	NM_001317782.2(RPL8):c.10G>A (p.Val4Met)	LOC130001419, RPL8 (V4M)	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 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 2611655	NM_001317782.2(RPL8):c.251C>G (p.Thr84Arg)	RPL8 (T84R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529710	NM_001317782.2(RPL8):c.215G>C (p.Arg72Pro)	RPL8 (R72P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470479	NM_001317782.2(RPL8):c.193G>A (p.Asp65Asn)	RPL8 (D65N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409206	NM_001317782.2(RPL8):c.197C>T (p.Pro66Leu)	RPL8 (P66L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385597	NM_001317782.2(RPL8):c.593G>A (p.Arg198Gln)	RPL8 (R198Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317453	NM_001317782.2(RPL8):c.290A>T (p.Asn97Ile)	RPL8 (N97I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252655	NM_001317782.2(RPL8):c.179A>G (p.Lys60Arg)	RPL8 (K60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252551	NM_001317782.2(RPL8):c.133G>A (p.Val45Ile)	RPL8 (V45I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235612	NM_001317782.2(RPL8):c.490G>T (p.Ala164Ser)	RPL8 (A164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218328	NM_001317782.2(RPL8):c.136A>C (p.Lys46Gln)	RPL8 (K46Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212197	NM_001317782.2(RPL8):c.91G>C (p.Ala31Pro)	RPL8 (A31P)	Single nucleotide variant (missense variant)	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 1327921	NM_001317782.2(RPL8):c.113A>G (p.His38Arg)	RPL8 (H38R)	Single nucleotide variant (missense variant)	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 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
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +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	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 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 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC124188223, LOC124188224 +961 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

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Links from Gene

Items: 78