ClinVar for Gene (Select 1196) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3145877	NM_001294338.2(CLK2):c.74G>A (p.Arg25Gln)	CLK2 (R25Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145876	NM_001294338.2(CLK2):c.68G>A (p.Arg23Gln)	CLK2 (R23Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145875	NM_001294338.2(CLK2):c.376C>T (p.Arg126Trp)	CLK2 (R126W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145874	NM_001294338.2(CLK2):c.370C>T (p.Arg124Cys)	CLK2 (R123C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145873	NM_001294338.2(CLK2):c.359G>A (p.Arg120Gln)	CLK2 (R119Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145872	NM_001294338.2(CLK2):c.308G>A (p.Arg103Gln)	CLK2 (R102Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145871	NM_001294338.2(CLK2):c.1447C>T (p.Arg483Trp)	CLK2 (R255W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2624052	NM_001294338.2(CLK2):c.118G>C (p.Asp40His)	CLK2 (D40H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596522	NM_001294338.2(CLK2):c.235C>T (p.Arg79Cys)	CLK2 (R79C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595732	NM_001294338.2(CLK2):c.1286G>A (p.Arg429His)	CLK2 (R428H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591497	NM_001294338.2(CLK2):c.805C>A (p.His269Asn)	CLK2 (H267N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2562074	NM_001294338.2(CLK2):c.334C>T (p.Arg112Cys)	CLK2 (R111C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542936	NM_001294338.2(CLK2):c.110G>A (p.Ser37Asn)	CLK2 (S37N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538879	NM_001294338.2(CLK2):c.241G>A (p.Asp81Asn)	CLK2 (D81N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531439	NM_001294338.2(CLK2):c.1185G>C (p.Arg395Ser)	CLK2 (R167S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529185	NM_001294338.2(CLK2):c.1193G>C (p.Gly398Ala)	CLK2 (G170A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511646	NM_001294338.2(CLK2):c.89G>A (p.Arg30Gln)	CLK2 (R30Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510587	NM_001294338.2(CLK2):c.566G>A (p.Arg189Gln)	CLK2 (R187Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488185	NM_001294338.2(CLK2):c.650A>G (p.Glu217Gly)	CLK2 (E215G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484047	NM_001294338.2(CLK2):c.629A>G (p.Asn210Ser)	CLK2 (N208S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456505	NM_001294338.2(CLK2):c.160C>T (p.Arg54Cys)	CLK2 (R54C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369580	NM_001294338.2(CLK2):c.802C>T (p.Arg268Cys)	CLK2 (R267C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341289	NM_001294338.2(CLK2):c.121C>T (p.Arg41Trp)	CLK2 (R41W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341206	NM_001294338.2(CLK2):c.10C>T (p.Pro4Ser)	CLK2 (P4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336155	NM_001294338.2(CLK2):c.322T>C (p.Tyr108His)	CLK2 (Y108H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330263	NM_001294338.2(CLK2):c.1253G>T (p.Arg418Leu)	CLK2 (R190L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324037	NM_001294338.2(CLK2):c.109A>G (p.Ser37Gly)	CLK2 (S37G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314319	NM_001294338.2(CLK2):c.911A>G (p.Glu304Gly)	CLK2 (E303G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291163	NM_001294338.2(CLK2):c.1294C>T (p.Arg432Cys)	CLK2 (R204C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286280	NM_001294338.2(CLK2):c.1208G>A (p.Arg403Gln)	CLK2 (R175Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248311	NM_001294338.2(CLK2):c.669G>C (p.Lys223Asn)	CLK2 (K222N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246528	NM_001294338.2(CLK2):c.206A>G (p.Tyr69Cys)	CLK2 (Y68C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213511	NM_001294338.2(CLK2):c.212G>A (p.Arg71Gln)	CLK2 (R71Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205874	NM_001294338.2(CLK2):c.130C>T (p.Arg44Trp)	CLK2 (R44W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	LCE1C, LCE1D +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814131	GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3	EFNA4, ENTREP3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 791812	NM_001294338.2(CLK2):c.1295G>A (p.Arg432His)	CLK2 (R432H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 731301	NM_001294338.2(CLK2):c.159C>T (p.Val53=)	CLK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 57458	GRCh38/hg38 1q22(chr1:155182457-155787428)x3	ASH1L, ASH1L-AS1 +45 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 53