CCNJL[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +111 more	Duplication	not specified	GUncertain significance
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	GABRA1, GABRA6 +108 more	Copy number loss	See cases	GPathogenic
Select item 152417	GRCh38/hg38 5q33.3(chr5:160207321-160351176)x3	C1QTNF2, CCNJL +6 more	Copy number gain	See cases	GLikely benign
Select item 3264573	NM_001308173.3(CCNJL):c.1160G>A (p.Arg387Lys)	CCNJL (R387K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359637	NM_001308173.3(CCNJL):c.1148G>T (p.Gly383Val)	CCNJL (G383V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235489	NM_001308173.3(CCNJL):c.1148G>C (p.Gly383Ala)	CCNJL (G383A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139956	NM_001308173.3(CCNJL):c.1138T>C (p.Phe380Leu)	CCNJL (F380L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558053	NM_001308173.3(CCNJL):c.1100C>A (p.Thr367Asn)	CCNJL (T367N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256482	NM_001308173.3(CCNJL):c.1051C>T (p.Leu351Phe)	CCNJL (L351F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491914	NM_001308173.3(CCNJL):c.967T>C (p.Ser323Pro)	CCNJL (S371P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400386	NM_001308173.3(CCNJL):c.928C>T (p.Arg310Trp)	CCNJL (R310W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139955	NM_001308173.3(CCNJL):c.904G>A (p.Val302Met)	CCNJL (V302M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515030	NM_001308173.3(CCNJL):c.890A>G (p.Gln297Arg)	CCNJL (Q297R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264572	NM_001308173.3(CCNJL):c.875C>G (p.Ala292Gly)	CCNJL (A292G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323801	NM_001308173.3(CCNJL):c.875C>T (p.Ala292Val)	CCNJL (A292V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266437	NM_001308173.3(CCNJL):c.872C>T (p.Pro291Leu)	CCNJL (P291L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139954	NM_001308173.3(CCNJL):c.871C>G (p.Pro291Ala)	CCNJL (P339A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139953	NM_001308173.3(CCNJL):c.865G>A (p.Gly289Ser)	CCNJL (G289S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2620039	NM_001308173.3(CCNJL):c.857C>A (p.Pro286Gln)	CCNJL (P334Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358900	NM_001308173.3(CCNJL):c.820A>C (p.Thr274Pro)	CCNJL (T274P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139964	NM_001308173.3(CCNJL):c.799A>G (p.Met267Val)	CCNJL (M315V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339938	NM_001308173.3(CCNJL):c.793T>G (p.Leu265Val)	CCNJL (L313V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400889	NM_001308173.3(CCNJL):c.715C>G (p.Leu239Val)	CCNJL (L239V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139963	NM_001308173.3(CCNJL):c.697A>C (p.Ser233Arg)	CCNJL (S233R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264571	NM_001308173.3(CCNJL):c.689G>A (p.Arg230Lys)	CCNJL (R230K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386157	NM_001308173.3(CCNJL):c.611C>G (p.Ser204Cys)	CCNJL (S252C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212806	NM_001308173.3(CCNJL):c.523C>T (p.Arg175Cys)	CCNJL (R175C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139962	NM_001308173.3(CCNJL):c.486G>C (p.Lys162Asn)	CCNJL (K162N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139961	NM_001308173.3(CCNJL):c.442G>A (p.Ala148Thr)	CCNJL (A148T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139960	NM_001308173.3(CCNJL):c.437C>T (p.Thr146Met)	CCNJL (T146M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139959	NM_001308173.3(CCNJL):c.377A>T (p.Glu126Val)	CCNJL (E126V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656010	NM_001308173.3(CCNJL):c.307G>A (p.Val103Ile)	CCNJL (V103I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3264570	NM_001308173.3(CCNJL):c.301G>C (p.Asp101His)	CCNJL (D101H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139958	NM_001308173.3(CCNJL):c.296G>A (p.Arg99Gln)	CCNJL (R147Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139957	NM_001308173.3(CCNJL):c.253G>A (p.Val85Met)	CCNJL (V85M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258605	NM_001308173.3(CCNJL):c.226G>A (p.Val76Ile)	CCNJL (V76I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3024860	NM_001308173.3(CCNJL):c.189C>G (p.Ala63=)	CCNJL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2391079	NM_001308173.3(CCNJL):c.178C>T (p.Arg60Trp)	CCNJL (R60W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212908	NM_001308173.3(CCNJL):c.133A>T (p.Ile45Phe)	CCNJL (I45F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540643	NM_001308173.3(CCNJL):c.11A>C (p.Glu4Ala)	CCNJL (E4A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	PTTG1, UBLCP1 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808993	GRCh37/hg19 5q33.3-34(chr5:159535230-161656766)x3	ATP10B, C1QTNF2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 814759	GRCh37/hg19 5q33.3-34(chr5:159714197-161313217)x1	C1QTNF2, GABRB2 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 814758	GRCh37/hg19 5q33.3-34(chr5:159623973-160000962)x3	CCNJL, SLU7 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814757	GRCh37/hg19 5q33.3-34(chr5:157801321-162780186)x1	GABRA1, PTTG1 +17 more	Copy number loss	not provided	GPathogenic
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 563116	GRCh37/hg19 5q33.3-34(chr5:159694389-160048347)x1	SLU7, CCNJL +5 more	Copy number loss	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394632	GRCh37/hg19 5q33.3(chr5:159624256-159781746)x3	C1QTNF2, CCNJL +1 more	Copy number gain	See cases	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

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Items: 62