CLK1[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 147739	GRCh38/hg38 2q33.1(chr2:200346708-201156417)x1	AOX1, BZW1 +45 more	Copy number loss	See cases	GPathogenic
Select item 3145863	NM_004071.4(CLK1):c.1345C>T (p.Arg449Cys)	CLK1 (R449C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3145862	NM_004071.4(CLK1):c.1247G>T (p.Arg416Leu)	CLK1 (R416L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145861	NM_004071.4(CLK1):c.1226G>A (p.Arg409His)	CLK1 (R409H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461587	NM_004071.4(CLK1):c.1102A>G (p.Ile368Val)	CLK1 (I410V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145860	NM_004071.4(CLK1):c.1036A>G (p.Arg346Gly)	CLK1 (R346G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145859	NM_004071.4(CLK1):c.1007A>C (p.His336Pro)	CLK1 (H378P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145858	NM_004071.4(CLK1):c.1000G>A (p.Glu334Lys)	CLK1 (E334K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145868	NM_004071.4(CLK1):c.715A>C (p.Ile239Leu)	CLK1 (I239L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620421	NM_004071.4(CLK1):c.646A>G (p.Thr216Ala)	CLK1 (T258A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368919	NM_004071.4(CLK1):c.622C>A (p.Gln208Lys)	CLK1 (Q208K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557756	NM_004071.4(CLK1):c.535A>C (p.Ile179Leu)	CLK1 (I179L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1330586	NM_004071.4(CLK1):c.379C>T (p.Arg127Cys)	CLK1 (R127C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2366855	NM_004071.4(CLK1):c.376C>T (p.Arg126Cys)	CLK1 (R126C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145867	NM_004071.4(CLK1):c.364A>T (p.Ser122Cys)	CLK1 (S122C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533085	NM_004071.4(CLK1):c.360C>G (p.His120Gln)	CLK1 (H120Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145866	NM_004071.4(CLK1):c.357T>G (p.Ile119Met)	CLK1 (I161M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145865	NM_004071.4(CLK1):c.250T>C (p.Cys84Arg)	CLK1 (C84R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604056	NM_004071.4(CLK1):c.235G>A (p.Asp79Asn)	CLK1 (D79N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490927	NM_004071.4(CLK1):c.217A>G (p.Ile73Val)	CLK1 (I73V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465061	NM_004071.4(CLK1):c.215A>G (p.Tyr72Cys)	CLK1 (Y114C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407892	NM_004071.4(CLK1):c.205A>C (p.Ser69Arg)	CLK1 (S111R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145864	NM_004071.4(CLK1):c.184A>G (p.Ile62Val)	CLK1 (I104V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222629	NM_004071.4(CLK1):c.20C>G (p.Thr7Ser)	CLK1 (T49S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613146	NM_004071.4(CLK1):c.17G>A (p.Arg6Lys)	CLK1 (R6K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592042	NM_004071.4(CLK1):c.-1+449G>A	CLK1, LOC129935393 (E38K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455086	NM_004071.4(CLK1):c.-1+387G>A	CLK1, LOC129935393 (G17D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562299	NM_004071.4(CLK1):c.-1+371T>C	CLK1, LOC129935393 (W12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145869	NM_004071.4(CLK1):c.-1+345C>T	CLK1, LOC129935393 (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
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 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 562673	GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1	HSPD1, DNAH7 +34 more	Copy number loss	not provided	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 394652	GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1	ANKRD44, AOX1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 221794	GRCh37/hg19 2q33.1(chr2:200250898-201845999)x3	NIF3L1, KCTD18 +13 more	Copy number gain	Premature ovarian failure	GUncertain significance

ClinVar

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Items: 61