JRK[gene] - ClinVar

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Items: 96

	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 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 146735	GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1	ADGRB1, ARC +140 more	Copy number loss	See cases	GPathogenic
Select item 2404278	NM_003724.4(JRK):c.1558G>T (p.Ala520Ser)	JRK (A520S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 715014	NM_003724.4(JRK):c.1527G>A (p.Ala509=)	JRK	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 779431	NM_003724.4(JRK):c.1508G>A (p.Arg503Gln)	JRK (R503Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769346	NM_003724.4(JRK):c.1426A>G (p.Arg476Gly)	JRK (R476G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2068995	NM_003724.4(JRK):c.1425C>T (p.Gly475=)	JRK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769347	NM_003724.4(JRK):c.1407G>A (p.Pro469=)	JRK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768270	NM_003724.4(JRK):c.1382_1383= (p.Val461=)	JRK	Variation (no sequence alteration)	not provided	GBenign
Select item 2658881	NM_003724.4(JRK):c.1367C>T (p.Thr456Met)	JRK (T456M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658882	NM_003724.4(JRK):c.1353G>T (p.Arg451=)	JRK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3287259	NM_003724.4(JRK):c.1351C>T (p.Arg451Trp)	JRK (R451W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658883	NM_003724.4(JRK):c.1350A>C (p.Gly450=)	JRK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3287261	NM_003724.4(JRK):c.1324G>T (p.Val442Leu)	JRK (V442L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384529	NM_003724.4(JRK):c.1298G>A (p.Arg433His)	JRK (R433H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366265	NM_003724.4(JRK):c.1292A>G (p.Gln431Arg)	JRK (Q431R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2250367	NM_003724.4(JRK):c.1286C>T (p.Pro429Leu)	JRK (P429L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658884	NM_003724.4(JRK):c.1251C>T (p.His417=)	JRK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3287262	NM_003724.4(JRK):c.1241C>G (p.Ser414Cys)	JRK (S414C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475684	NM_003724.4(JRK):c.1177G>A (p.Glu393Lys)	JRK (E393K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297278	NM_003724.4(JRK):c.1106C>T (p.Ala369Val)	JRK (A369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277595	NM_003724.4(JRK):c.1096G>A (p.Val366Met)	JRK (V366M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 769348	NM_003724.4(JRK):c.1062C>T (p.His354=)	JRK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1253520	NM_003724.4(JRK):c.777= (p.Asn259=)	JRK	Single nucleotide variant (no sequence alteration)	not provided	GBenign
Select item 769349	NM_003724.4(JRK):c.777C>T (p.Asn259=)	JRK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2658885	NM_003724.4(JRK):c.537C>T (p.Ser179=)	JRK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658886	NM_003724.4(JRK):c.486G>A (p.Ala162=)	JRK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769748	NM_003724.4(JRK):c.486G>C (p.Ala162=)	JRK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712379	NM_003724.4(JRK):c.471C>T (p.Ala157=)	JRK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1273606	NM_003724.4(JRK):c.381G>A (p.Glu127=)	JRK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2689270	NM_003724.4(JRK):c.379G>T (p.Glu127Ter)	JRK (E127*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2658887	NM_003724.4(JRK):c.306C>T (p.Ser102=)	JRK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769213	NM_003724.4(JRK):c.207C>G (p.Ser69=)	JRK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1249044	NM_003724.4(JRK):c.89C>T (p.Thr30Met)	JRK (T30M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3112536	NM_003724.4(JRK):c.43C>T (p.Arg15Trp)	JRK (R15W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112535	NM_003724.4(JRK):c.34G>A (p.Gly12Arg)	JRK (G12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287260	NM_003724.4(JRK):c.30C>A (p.Ser10Arg)	JRK (S10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 704509	NC_000008.11:g.142680513C>T	JRK, PSCA	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2684559	GRCh37/hg19 8q24.3(chr8:143699381-143911520)x3	JRK, LY6D +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684558	GRCh37/hg19 8q24.3(chr8:143689344-144448860)x3	ARC, CYP11B1 +18 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 1808357	GRCh37/hg19 8q24.3(chr8:142836592-144175046)x1	ADGRB1, ARC +14 more	Copy number loss	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 815176	GRCh37/hg19 8q24.3(chr8:143728492-144093928)x3	GML, CYP11B1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 815175	GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1	ADGRB1, ARC +37 more	Copy number loss	not provided	GPathogenic
Select item 815174	GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1	THEM6, CYP11B2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 815173	GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1	ADGRB1, ARC +62 more	Copy number loss	not provided	GPathogenic
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 815167	GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1	ADCY8, ADGRB1 +39 more	Copy number loss	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 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 685410	GRCh37/hg19 8q24.3(chr8:142988974-144218537)x3	ADGRB1, ARC +14 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 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 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: 96