CEP104[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 151451	GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	ACAP3, ACTRT2 +336 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 152849	GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	LOC129929191, LOC129929192 +325 more	Copy number loss	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	VWA1, WRAP73 +341 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC129929084, LOC129929085 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 148916	GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 58245	GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144707	GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58289	GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	ACAP3, ACTRT2 +329 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 57049	GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	LINC01786, LINC02593 +339 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +341 more	Copy number gain	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 58311	GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58314	GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	ACAP3, ACTRT2 +320 more	Copy number loss	See cases	GPathogenic
Select item 147545	GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	ACAP3, ACTRT2 +328 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 148305	GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	ACAP3, ACTRT2 +301 more	Copy number loss	See cases	GPathogenic
Select item 144807	GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 2499639	GRCh38/hg38 1p36.32(chr1:2518272-4413203)	ACTRT2, ARHGEF16 +88 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 58321	GRCh38/hg38 1p36.32(chr1:2683403-4729121)x1	ACTRT2, AJAP1 +79 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 148513	GRCh38/hg38 1p36.32-36.31(chr1:2906020-5336116)x1	ACTRT2, AJAP1 +83 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 148732	GRCh38/hg38 1p36.32(chr1:3695587-4084682)x3	C1orf174, CCDC27 +28 more	Copy number gain	See cases	GUncertain significance
Select item 144175	GRCh38/hg38 1p36.32(chr1:3712088-4027367)x4	C1orf174, CCDC27 +27 more	Copy number gain	See cases	GPathogenic
Select item 1181337	NM_014704.4(CEP104):c.311_312insA	CEP104	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1231645	NM_014704.4(CEP104):c.*309G>A	CEP104	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2638108	NM_014704.4(CEP104):c.*140G>A	CEP104	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 665628	NC_000001.11:g.(?_3815382)_(3852427_?)del	CEP104, LOC126805586 +1 more	Deletion	Joubert syndrome 25	GPathogenic
Select item 1263430	NM_014704.4(CEP104):c.*7G>A	CEP104	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1241222	NM_014704.4(CEP104):c.*1C>T	CEP104	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2705777	NM_014704.4(CEP104):c.2775C>T (p.Arg925=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 1584350	NM_014704.4(CEP104):c.2766C>T (p.Tyr922=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 1343652	NM_014704.4(CEP104):c.2765A>T (p.Tyr922Phe)	CEP104 (Y922F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271325	NM_014704.4(CEP104):c.2762C>T (p.Thr921Met)	CEP104 (T921M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1144327	NM_014704.4(CEP104):c.2755A>G (p.Ser919Gly)	CEP104 (S919G)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GLikely benign
Select item 1122407	NM_014704.4(CEP104):c.2751C>T (p.Ser917=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 3142465	NM_014704.4(CEP104):c.2749A>G (p.Ser917Gly)	CEP104 (S917G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 569168	NM_014704.4(CEP104):c.2737G>A (p.Gly913Arg)	CEP104 (G913R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 707534	NM_014704.4(CEP104):c.2736C>T (p.Gly912=)	CEP104	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2053647	NM_014704.4(CEP104):c.2730G>A (p.Pro910=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 2258902	NM_014704.4(CEP104):c.2729C>T (p.Pro910Leu)	CEP104 (P910L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265961	NM_014704.4(CEP104):c.2710G>A (p.Gly904Arg)	CEP104 (G904R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2902302	NM_014704.4(CEP104):c.2709C>T (p.Ala903=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 759566	NM_014704.4(CEP104):c.2703A>G (p.Ser901=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 1428291	NM_014704.4(CEP104):c.2684C>A (p.Ala895Glu)	CEP104 (A895E)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 1353494	NM_014704.4(CEP104):c.2684C>T (p.Ala895Val)	CEP104 (A895V)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2439899	NM_014704.4(CEP104):c.2683G>A (p.Ala895Thr)	CEP104 (A895T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499781	NM_014704.4(CEP104):c.2674G>A (p.Ala892Thr)	CEP104 (A892T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1209723	NM_014704.4(CEP104):c.2663-22A>G	CEP104	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1183590	NM_014704.4(CEP104):c.2663-91G>A	CEP104	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1187463	NM_014704.4(CEP104):c.2663-114G>A	CEP104	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278115	NM_014704.4(CEP104):c.2663-173del	CEP104	Deletion (intron variant)	not provided	GBenign
Select item 1291102	NM_014704.4(CEP104):c.2662+248C>A	CEP104	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272016	NM_014704.4(CEP104):c.2662+205A>T	CEP104	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296175	NM_014704.4(CEP104):c.2662+137A>G	CEP104	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219924	NM_014704.4(CEP104):c.2662+132T>C	CEP104	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198449	NM_014704.4(CEP104):c.2662+115T>C	CEP104	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209724	NM_014704.4(CEP104):c.2662+62A>G	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25 +1 more	GBenign
Select item 2980863	NM_014704.4(CEP104):c.2662+13G>A	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2960631	NM_014704.4(CEP104):c.2662+12C>T	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 1623071	NM_014704.4(CEP104):c.2662+10A>T	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GConflicting classifications of pathogenicity
Select item 1623072	NM_014704.4(CEP104):c.2658G>A (p.Gln886=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 3356604	NM_014704.4(CEP104):c.2656C>T (p.Gln886Ter)	CEP104 (Q886*)	Single nucleotide variant (nonsense)	CEP104-related disorder	GLikely pathogenic
Select item 1675337	NM_014704.4(CEP104):c.2649G>A (p.Pro883=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25 +1 more	GLikely benign
Select item 475462	NM_014704.4(CEP104):c.2644G>T (p.Ala882Ser)	CEP104 (A882S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1301277	NM_014704.4(CEP104):c.2621G>A (p.Arg874His)	CEP104 (R874H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3051521	NM_014704.4(CEP104):c.2610G>A (p.Thr870=)	CEP104	Single nucleotide variant (synonymous variant)	CEP104-related disorder	GLikely benign
Select item 2520831	NM_014704.4(CEP104):c.2609C>T (p.Thr870Met)	CEP104 (T870M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308466	NM_014704.4(CEP104):c.2602G>A (p.Gly868Ser)	CEP104 (G868S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2145291	NM_014704.4(CEP104):c.2601C>T (p.Ala867=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 221277	NM_014704.4(CEP104):c.2572-2A>G	CEP104	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 25	GPathogenic
Select item 1179698	NM_014704.4(CEP104):c.2572-36G>A	CEP104	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211654	NM_014704.4(CEP104):c.2572-46G>A	CEP104	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262263	NM_014704.4(CEP104):c.2572-227G>C	CEP104	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179222	NM_014704.4(CEP104):c.2572-283G>T	CEP104	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268661	NM_014704.4(CEP104):c.2571+226C>T	CEP104	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174190	NM_014704.4(CEP104):c.2571+127G>T	CEP104	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300722	NM_014704.4(CEP104):c.2571+74G>A	CEP104	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 952395	NM_014704.4(CEP104):c.2571+6G>A	CEP104	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2262834	NM_014704.4(CEP104):c.2571+3G>A	CEP104	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 475461	NM_014704.4(CEP104):c.2569G>A (p.Glu857Lys)	CEP104 (E857K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign

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