CMPK2[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC129933017, LOC129933018 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 144513	GRCh38/hg38 2p25.2-25.1(chr2:4416714-7632837)x1	CMPK2, GRASLND +50 more	Copy number loss	See cases	GLikely pathogenic
Select item 1679722	Single allele	CMPK2, GRASLND +32 more	Duplication	not provided	GUncertain significance
Select item 58837	GRCh38/hg38 2p25.2-25.1(chr2:6503572-7934538)x3	CMPK2, GRASLND +31 more	Copy number gain	See cases	GUncertain significance
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 3267988	NM_207315.4(CMPK2):c.1310C>T (p.Thr437Met)	CMPK2 (T437M)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3146241	NM_207315.4(CMPK2):c.1246C>T (p.Arg416Trp)	CMPK2 (R416W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315509	NM_207315.4(CMPK2):c.1234A>G (p.Met412Val)	CMPK2 (M412V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2466860	NM_207315.4(CMPK2):c.1220G>A (p.Arg407His)	CMPK2 (R407H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3146239	NM_207315.4(CMPK2):c.1145G>A (p.Arg382Lys)	CMPK2 (R382K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463126	NM_207315.4(CMPK2):c.1136C>T (p.Pro379Leu)	CMPK2 (P379L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260348	NM_207315.4(CMPK2):c.1129G>C (p.Val377Leu)	CMPK2 (V377L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2629994	NM_207315.4(CMPK2):c.1071C>A (p.His357Gln)	CMPK2 (H357Q)	Single nucleotide variant (missense variant +2 more)	CMPK2-related disorder	GUncertain significance
Select item 3267982	NM_207315.4(CMPK2):c.977C>T (p.Pro326Leu)	CMPK2 (P326L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615850	NM_207315.4(CMPK2):c.950A>C (p.Glu317Ala)	CMPK2 (E317A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267987	NM_207315.4(CMPK2):c.850C>T (p.Pro284Ser)	CMPK2 (P284S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326921	NM_207315.4(CMPK2):c.806C>T (p.Thr269Ile)	CMPK2 (T269I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592209	NM_207315.4(CMPK2):c.800C>T (p.Thr267Met)	CMPK2 (T267M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466037	NM_207315.4(CMPK2):c.788C>T (p.Thr263Met)	CMPK2 (T263M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146250	NM_207315.4(CMPK2):c.772G>A (p.Glu258Lys)	CMPK2 (E258K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320067	NM_207315.4(CMPK2):c.770T>C (p.Ile257Thr)	CMPK2 (I257T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267983	NM_207315.4(CMPK2):c.751A>G (p.Lys251Glu)	CMPK2 (K251E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146248	NM_207315.4(CMPK2):c.701G>A (p.Arg234Gln)	CMPK2 (R234Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3267986	NM_207315.4(CMPK2):c.644A>G (p.Asp215Gly)	CMPK2 (D215G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236878	NM_207315.4(CMPK2):c.641C>T (p.Pro214Leu)	CMPK2 (P214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146247	NM_207315.4(CMPK2):c.607G>A (p.Val203Met)	CMPK2 (V203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267985	NM_207315.4(CMPK2):c.521A>T (p.Gln174Leu)	CMPK2 (Q174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146245	NM_207315.4(CMPK2):c.493G>C (p.Glu165Gln)	CMPK2 (E165Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510739	NM_207315.4(CMPK2):c.487G>C (p.Glu163Gln)	CMPK2 (E163Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046192	NM_207315.4(CMPK2):c.476C>T (p.Pro159Leu)	CMPK2, LOC129933018 (P159L)	Single nucleotide variant (missense variant)	CMPK2-related disorder	GLikely benign
Select item 3146244	NM_207315.4(CMPK2):c.452G>C (p.Gly151Ala)	CMPK2, LOC129933018 (G151A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591765	NM_207315.4(CMPK2):c.452G>A (p.Gly151Asp)	CMPK2, LOC129933018 (G151D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620444	NM_207315.4(CMPK2):c.442G>C (p.Glu148Gln)	CMPK2, LOC129933018 (E148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146243	NM_207315.4(CMPK2):c.413A>C (p.Asp138Ala)	CMPK2, LOC129933018 (D138A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335915	NM_207315.4(CMPK2):c.392T>C (p.Phe131Ser)	CMPK2, LOC129933018 (F131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267984	NM_207315.4(CMPK2):c.364G>C (p.Gly122Arg)	CMPK2, LOC129933018 (G122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293910	NM_207315.4(CMPK2):c.295C>A (p.Leu99Met)	CMPK2, LOC129933018 (L99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251973	NM_207315.4(CMPK2):c.239C>T (p.Thr80Ile)	CMPK2, LOC129933018 (T80I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348442	NM_207315.4(CMPK2):c.227G>A (p.Cys76Tyr)	CMPK2, LOC129933018 (C76Y)	Single nucleotide variant (missense variant)	CMPK2-related disorder	GUncertain significance
Select item 2466278	NM_207315.4(CMPK2):c.188C>T (p.Ala63Val)	CMPK2, LOC129933018 (A63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603766	NM_207315.4(CMPK2):c.151G>A (p.Ala51Thr)	CMPK2, LOC129933018 (A51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261397	NM_207315.4(CMPK2):c.145G>T (p.Ala49Ser)	CMPK2, LOC129933018 (A49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520459	NM_207315.4(CMPK2):c.103C>G (p.Leu35Val)	CMPK2, LOC129933018 (L35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146249	NM_207315.4(CMPK2):c.71C>G (p.Ala24Gly)	CMPK2, LOC129933018 (A24G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146246	NM_207315.4(CMPK2):c.59G>C (p.Arg20Pro)	CMPK2, LOC129933018 (R20P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528602	NM_207315.4(CMPK2):c.28G>C (p.Gly10Arg)	CMPK2 (G10R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2629319	NM_207315.4(CMPK2):c.25C>A (p.Arg9Ser)	CMPK2 (R9S)	Single nucleotide variant (missense variant)	CMPK2-related disorder	GUncertain significance
Select item 2407401	NM_207315.4(CMPK2):c.13C>T (p.Arg5Cys)	CMPK2, LOC129933019 (R5C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596392	NM_207315.4(CMPK2):c.11C>T (p.Ala4Val)	CMPK2, LOC129933019 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 2664507	GRCh37/hg19 2p25.2-25.1(chr2:5689487-7379378)x3	CMPK2, RNF144A +2 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1807910	GRCh37/hg19 2p25.2-25.1(chr2:6765428-7101997)x3	CMPK2, RNF144A +1 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340114	GRCh37/hg19 2p25.2-25.1(chr2:6297801-7555446)x3	CMPK2, RNF144A +1 more	Copy number gain	not provided	GUncertain significance
Select item 814215	GRCh37/hg19 2p25.2(chr2:6750679-7030957)x1	RSAD2, CMPK2	Copy number loss	not provided	GUncertain significance
Select item 686549	GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3	ACP1, ADI1 +19 more	Copy number gain	not provided	GPathogenic
Select item 686548	GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3	ACP1, ADI1 +19 more	Copy number gain	not provided	GPathogenic
Select item 562636	GRCh37/hg19 2p25.2-25.1(chr2:6295523-7555446)x3	RNF144A, RSAD2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441112	GRCh37/hg19 2p25.2-25.1(chr2:4500550-7378329)x1	CMPK2, RNF144A +2 more	Copy number loss	not provided	Gnot provided
Select item 3381201	CMPK2, TYR414CYS	CMPK2	Variation	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE	GPathogenic
Select item 3381200	CMPK2, MET1?, 1A-C	CMPK2	Single nucleotide variant	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE	GPathogenic
Select item 3381199	CMPK2, MET1?, 2T-C	CMPK2	Single nucleotide variant	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE	GPathogenic

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Items: 76