CEP135[gene] - ClinVar - NCBI

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	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 146177	GRCh38/hg38 4q12(chr4:55831692-56248102)x3	CEP135, CRACD +8 more	Copy number gain	See cases	GUncertain significance
Select item 1397391	NM_025009.5(CEP135):c.10G>T (p.Ala4Ser)	CEP135 (A4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3266020	NM_025009.5(CEP135):c.50A>C (p.Asp17Ala)	CEP135 (D17A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726147	NM_025009.5(CEP135):c.64C>T (p.Arg22Cys)	CEP135 (R22C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2411642	NM_025009.5(CEP135):c.65G>A (p.Arg22His)	CEP135 (R22H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2131766	NM_025009.5(CEP135):c.92C>G (p.Pro31Arg)	CEP135 (P31R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123132	NM_025009.5(CEP135):c.99A>T (p.Val33=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128841	NM_025009.5(CEP135):c.113+5A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2129264	NM_025009.5(CEP135):c.113+9A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254843	NM_025009.5(CEP135):c.113+29T>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198071	NM_025009.5(CEP135):c.113+283C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1347951	NM_025009.5(CEP135):c.114C>T (p.Ser38=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2022002	NM_025009.5(CEP135):c.120A>G (p.Leu40=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3142576	NM_025009.5(CEP135):c.127A>T (p.Thr43Ser)	CEP135 (T43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 434720	NM_025009.5(CEP135):c.142C>T (p.Arg48Trp)	CEP135 (R48W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1337057	NM_025009.5(CEP135):c.143G>A (p.Arg48Gln)	CEP135 (R48Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2981021	NM_025009.5(CEP135):c.145C>A (p.Gln49Lys)	CEP135 (Q49K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374897	NM_025009.5(CEP135):c.170C>T (p.Ala57Val)	CEP135 (A57V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 210677	NM_025009.5(CEP135):c.203T>C (p.Leu68Ser)	CEP135 (L68S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1544268	NM_025009.5(CEP135):c.219T>C (p.Leu73=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2411671	NM_025009.5(CEP135):c.226G>A (p.Ala76Thr)	CEP135 (A76T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1032208	NM_025009.5(CEP135):c.231A>C (p.Arg77Ser)	CEP135 (R77S)	Single nucleotide variant (missense variant)	Microcephaly 8, primary, autosomal recessive	GUncertain significance
Select item 1371292	NM_025009.5(CEP135):c.233T>G (p.Leu78Trp)	CEP135 (L78W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708044	NM_025009.5(CEP135):c.255A>G (p.Leu85=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2328354	NM_025009.5(CEP135):c.268A>G (p.Met90Val)	CEP135 (M90V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1964660	NM_025009.5(CEP135):c.292C>A (p.Gln98Lys)	CEP135 (Q98K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128700	NM_025009.5(CEP135):c.297C>T (p.His99=)	CEP135	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3018604	NM_025009.5(CEP135):c.303_304+4del	CEP135	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1310903	NM_025009.5(CEP135):c.304G>A (p.Glu102Lys)	CEP135 (E102K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194479	NM_025009.5(CEP135):c.304+295T>C	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260704	NM_025009.5(CEP135):c.305-171T>G	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227108	NM_025009.5(CEP135):c.305-152T>C	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2262200	NM_025009.5(CEP135):c.313A>G (p.Thr105Ala)	CEP135 (T105A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1423859	NM_025009.5(CEP135):c.334C>T (p.Arg112Cys)	CEP135 (R112C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128703	NM_025009.5(CEP135):c.335G>A (p.Arg112His)	CEP135 (R112H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3030306	NM_025009.5(CEP135):c.341C>T (p.Thr114Ile)	CEP135 (T114I)	Single nucleotide variant (missense variant)	CEP135-related disorder	GUncertain significance
Select item 2085972	NM_025009.5(CEP135):c.342A>C (p.Thr114=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080036	NM_025009.5(CEP135):c.369A>T (p.Gln123His)	CEP135 (Q123H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336116	NM_025009.5(CEP135):c.369A>G (p.Gln123=)	CEP135	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2480662	NM_025009.5(CEP135):c.376C>A (p.His126Asn)	CEP135 (H126N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197222	NM_025009.5(CEP135):c.378T>G (p.His126Gln)	CEP135 (H126Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3266016	NM_025009.5(CEP135):c.385A>G (p.Lys129Glu)	CEP135 (K129E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1381258	NM_025009.5(CEP135):c.387A>T (p.Lys129Asn)	CEP135 (K129N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2458146	NM_025009.5(CEP135):c.397A>G (p.Lys133Glu)	CEP135 (K133E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1923473	NM_025009.5(CEP135):c.408A>G (p.Lys136=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796954	NM_025009.5(CEP135):c.441A>G (p.Glu147=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1385841	NM_025009.5(CEP135):c.445A>G (p.Asn149Asp)	CEP135 (N149D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942910	NM_025009.5(CEP135):c.471A>G (p.Pro157=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1534932	NM_025009.5(CEP135):c.472+8G>A	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198441	NM_025009.5(CEP135):c.472+18C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1674898	NM_025009.5(CEP135):c.472+19G>A	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664255	NM_025009.5(CEP135):c.472+19G>C	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251671	NM_025009.5(CEP135):c.472+221A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2978645	NM_025009.5(CEP135):c.473-16C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196199	NM_025009.5(CEP135):c.473-12C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3052427	NM_025009.5(CEP135):c.473-7T>C	CEP135	Single nucleotide variant (intron variant)	CEP135-related disorder	GLikely benign
Select item 3336667	NM_025009.5(CEP135):c.473-1G>C	CEP135	Single nucleotide variant (splice acceptor variant)	Microcephaly 8, primary, autosomal recessive	GLikely pathogenic
Select item 1920636	NM_025009.5(CEP135):c.481A>G (p.Lys161Glu)	CEP135 (K161E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2256055	NM_025009.5(CEP135):c.491T>C (p.Ile164Thr)	CEP135 (I164T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1336013	NM_025009.5(CEP135):c.502C>T (p.Arg168Cys)	CEP135 (R168C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1430068	NM_025009.5(CEP135):c.503G>A (p.Arg168His)	CEP135 (R168H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034737	NM_025009.5(CEP135):c.508C>G (p.Arg170Gly)	CEP135 (R170G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2333547	NM_025009.5(CEP135):c.517A>G (p.Ile173Val)	CEP135 (I173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750333	NM_025009.5(CEP135):c.527C>T (p.Pro176Leu)	CEP135 (P176L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1379781	NM_025009.5(CEP135):c.528G>A (p.Pro176=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3052747	NM_025009.5(CEP135):c.537C>G (p.Pro179=)	CEP135	Single nucleotide variant (synonymous variant)	CEP135-related disorder	GLikely benign
Select item 2232524	NM_025009.5(CEP135):c.545T>C (p.Val182Ala)	CEP135 (V182A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1659991	NM_025009.5(CEP135):c.552A>G (p.Ser184=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1032209	NM_025009.5(CEP135):c.575A>T (p.Asp192Val)	CEP135 (D192V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1918561	NM_025009.5(CEP135):c.591C>A (p.Asp197Glu)	CEP135 (D197E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938241	NM_025009.5(CEP135):c.595C>T (p.Leu199Phe)	CEP135 (L199F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3142583	NM_025009.5(CEP135):c.607G>T (p.Asp203Tyr)	CEP135 (D203Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1896016	NM_025009.5(CEP135):c.614+13A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187033	NM_025009.5(CEP135):c.614+199A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251555	NM_025009.5(CEP135):c.615-189_615-188insGT	CEP135	Insertion (intron variant)	not provided	GBenign
Select item 1961012	NM_025009.5(CEP135):c.615-15T>G	CEP135	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3025713	NM_025009.5(CEP135):c.620A>G (p.Gln207Arg)	CEP135 (Q207R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432592	NM_025009.5(CEP135):c.620A>C (p.Gln207Pro)	CEP135 (Q207P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2024739	NM_025009.5(CEP135):c.630A>T (p.Gln210His)	CEP135 (Q210H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 210683	NM_025009.5(CEP135):c.636A>C (p.Glu212Asp)	CEP135 (E212D)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 198263	NM_025009.5(CEP135):c.638T>C (p.Val213Ala)	CEP135 (V213A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2336152	NM_025009.5(CEP135):c.666G>A (p.Met222Ile)	CEP135 (M222I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1903212	NM_025009.5(CEP135):c.670G>A (p.Glu224Lys)	CEP135 (E224K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3142584	NM_025009.5(CEP135):c.692G>A (p.Ser231Asn)	CEP135 (S231N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1254322	NM_025009.5(CEP135):c.699+83G>A	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204251	NM_025009.5(CEP135):c.700-131C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023902	NM_025009.5(CEP135):c.700-17C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936521	NM_025009.5(CEP135):c.700-13A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 740419	NM_025009.5(CEP135):c.700-10A>C	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 210684	NM_025009.5(CEP135):c.700-10A>G	CEP135	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1391965	NM_025009.5(CEP135):c.704A>G (p.Glu235Gly)	CEP135 (E235G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966773	NM_025009.5(CEP135):c.705G>A (p.Glu235=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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