CLOCK[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 2337285	NM_004898.4(CLOCK):c.2426A>G (p.Gln809Arg)	CLOCK, TMEM165 (Q809R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495415	NM_004898.4(CLOCK):c.2192T>C (p.Met731Thr)	CLOCK, TMEM165 (M731T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145942	NM_004898.4(CLOCK):c.2186T>C (p.Met729Thr)	CLOCK, TMEM165 (M729T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512461	NM_004898.4(CLOCK):c.2140G>A (p.Val714Met)	CLOCK, TMEM165 (V714M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145941	NM_004898.4(CLOCK):c.2096G>A (p.Arg699Lys)	CLOCK, TMEM165 (R699K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456067	NM_004898.4(CLOCK):c.2017G>A (p.Gly673Arg)	CLOCK, TMEM165 (G673R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267828	NM_004898.4(CLOCK):c.1831A>G (p.Met611Val)	CLOCK, TMEM165 (M611V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145940	NM_004898.4(CLOCK):c.1820T>G (p.Ile607Ser)	CLOCK, TMEM165 (I607S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218547	NM_004898.4(CLOCK):c.1819A>T (p.Ile607Phe)	CLOCK, TMEM165 (I607F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317772	NM_004898.4(CLOCK):c.1807C>T (p.Pro603Ser)	CLOCK, TMEM165 (P603S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405460	NM_004898.4(CLOCK):c.1708T>A (p.Ser570Thr)	CLOCK, TMEM165 (S570T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329406	NM_004898.4(CLOCK):c.1628G>A (p.Arg543Gln)	CLOCK, TMEM165 (R543Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267834	NM_004898.4(CLOCK):c.1621A>C (p.Ile541Leu)	CLOCK, TMEM165 (I541L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711412	NM_004898.4(CLOCK):c.1584C>T (p.Asp528=)	CLOCK, TMEM165	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3267836	NM_004898.4(CLOCK):c.1464G>C (p.Gln488His)	CLOCK, TMEM165 (Q488H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145939	NM_004898.4(CLOCK):c.1369A>G (p.Thr457Ala)	CLOCK, TMEM165 (T457A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722817	NM_004898.4(CLOCK):c.1367C>T (p.Pro456Leu)	CLOCK, TMEM165 (P456L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3267827	NM_004898.4(CLOCK):c.1294G>C (p.Ala432Pro)	CLOCK, TMEM165 (A432P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145938	NM_004898.4(CLOCK):c.1271T>C (p.Phe424Ser)	CLOCK, TMEM165 (F424S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267835	NM_004898.4(CLOCK):c.1246A>G (p.Ser416Gly)	CLOCK, TMEM165 (S416G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375953	NM_004898.4(CLOCK):c.1229A>C (p.Asn410Thr)	CLOCK, TMEM165 (N410T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784039	NM_004898.4(CLOCK):c.1206+10T>C	CLOCK, TMEM165	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3145937	NM_004898.4(CLOCK):c.1157G>A (p.Arg386Gln)	CLOCK, TMEM165 (R386Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267833	NM_004898.4(CLOCK):c.1061A>G (p.His354Arg)	CLOCK (H354R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145946	NM_004898.4(CLOCK):c.967A>G (p.Lys323Glu)	CLOCK (K323E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145945	NM_004898.4(CLOCK):c.880C>T (p.Pro294Ser)	CLOCK (P294S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396717	NM_004898.4(CLOCK):c.746T>C (p.Val249Ala)	CLOCK (V249A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145944	NM_004898.4(CLOCK):c.733T>C (p.Tyr245His)	CLOCK (Y245H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267826	NM_004898.4(CLOCK):c.709A>G (p.Ile237Val)	CLOCK (I237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726740	NM_004898.4(CLOCK):c.704G>A (p.Gly235Glu)	CLOCK (G235E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 775979	NM_004898.4(CLOCK):c.699T>C (p.Phe233=)	CLOCK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720262	NM_004898.4(CLOCK):c.674-10A>G	CLOCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2529378	NM_004898.4(CLOCK):c.644T>G (p.Phe215Cys)	CLOCK (F215C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238843	NM_004898.4(CLOCK):c.538T>G (p.Leu180Val)	CLOCK (L180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145943	NM_004898.4(CLOCK):c.505A>G (p.Ile169Val)	CLOCK (I169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379503	NM_004898.4(CLOCK):c.451G>C (p.Asp151His)	CLOCK (D151H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232731	NM_004898.4(CLOCK):c.424C>T (p.Leu142Phe)	CLOCK (L142F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261324	NM_004898.4(CLOCK):c.365T>A (p.Phe122Tyr)	CLOCK (F122Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261852	NM_004898.4(CLOCK):c.352C>G (p.Leu118Val)	CLOCK (L118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764132	NM_004898.4(CLOCK):c.303A>G (p.Lys101=)	CLOCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787172	NM_004898.4(CLOCK):c.256+5A>T	CLOCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2396655	NM_004898.4(CLOCK):c.245G>A (p.Arg82Gln)	CLOCK (R82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253746	NM_004898.4(CLOCK):c.205G>A (p.Asp69Asn)	CLOCK (D69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267831	NM_004898.4(CLOCK):c.135A>T (p.Lys45Asn)	CLOCK (K45N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720921	NM_004898.4(CLOCK):c.102G>A (p.Ala34=)	CLOCK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2319135	NM_004898.4(CLOCK):c.79G>A (p.Glu27Lys)	CLOCK (E27K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267832	NM_004898.4(CLOCK):c.55A>G (p.Ser19Gly)	CLOCK (S19G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3246588	NC_000004.11:g.(?_55124936)_(57786056_?)del	AASDH, ARL9 +18 more	Deletion	Gastrointestinal stromal tumor	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685969	GRCh37/hg19 4q12(chr4:56169506-56780835)x3	CLOCK, EXOC1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 2426476	NC_000004.11:g.(?_55124936)_(57368027_?)del	AASDH, CEP135 +13 more	Deletion	not provided	GPathogenic
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1703552	GRCh37/hg19 4q12(chr4:53688710-56491447)	CHIC2, CLOCK +12 more	Copy number loss	Piebaldism	GPathogenic
Select item 1433363	NC_000004.11:g.(?_55124936)_(57798318_?)dup	AASDH, ARL9 +18 more	Duplication	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1340920	GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 689136	GRCh37/hg19 4q12(chr4:56366390-56436379)x3	CLOCK, PDCL2	Copy number gain	not provided	GUncertain significance
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 254024	GRCh37/hg19 4q12(chr4:56225485-56300646)x1	TMEM165, CLOCK +1 more	Copy number loss	See cases	GUncertain significance

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Items: 71