CEP85[gene] - ClinVar

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Items: 60

	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 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2592811	NM_001319944.2(CEP85):c.15G>C (p.Glu5Asp)	CEP85 (E5D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332463	NM_001319944.2(CEP85):c.53C>T (p.Pro18Leu)	CEP85 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143063	NM_001319944.2(CEP85):c.142C>T (p.Arg48Cys)	CEP85 (R48C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780224	NM_001319944.2(CEP85):c.143G>A (p.Arg48His)	CEP85 (R48H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 736564	NM_001319944.2(CEP85):c.159C>A (p.Ala53=)	CEP85	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3143066	NM_001319944.2(CEP85):c.247A>G (p.Ile83Val)	CEP85 (I32V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232790	NM_001319944.2(CEP85):c.296T>C (p.Leu99Ser)	CEP85 (L48S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620494	NM_001319944.2(CEP85):c.308C>T (p.Pro103Leu)	CEP85 (P103L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392101	NM_001319944.2(CEP85):c.351A>C (p.Lys117Asn)	CEP85 (K66N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254919	NM_001319944.2(CEP85):c.463A>G (p.Thr155Ala)	CEP85 (T104A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365614	NM_001319944.2(CEP85):c.484C>G (p.Gln162Glu)	CEP85 (Q111E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210159	NM_001319944.2(CEP85):c.527C>T (p.Ala176Val)	CEP85 (A125V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 790484	NM_001319944.2(CEP85):c.528G>A (p.Ala176=)	CEP85	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3143067	NM_001319944.2(CEP85):c.530G>A (p.Arg177Lys)	CEP85 (R126K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377164	NM_001319944.2(CEP85):c.542T>C (p.Ile181Thr)	CEP85 (I130T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366835	NM_001319944.2(CEP85):c.566A>G (p.Asn189Ser)	CEP85 (N138S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143069	NM_001319944.2(CEP85):c.617G>A (p.Arg206His)	CEP85 (R155H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2297125	NM_001319944.2(CEP85):c.628C>T (p.Pro210Ser)	CEP85 (P210S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490765	NM_001319944.2(CEP85):c.646A>G (p.Lys216Glu)	CEP85 (K165E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143070	NM_001319944.2(CEP85):c.671A>G (p.Glu224Gly)	CEP85 (E173G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363100	NM_001319944.2(CEP85):c.700G>C (p.Val234Leu)	CEP85 (V234L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266280	NM_001319944.2(CEP85):c.709C>T (p.Arg237Trp)	CEP85 (R186W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330261	NM_001319944.2(CEP85):c.766C>T (p.Pro256Ser)	CEP85 (P256S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226687	NM_001319944.2(CEP85):c.830G>A (p.Arg277Gln)	CEP85 (R277Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546468	NM_001319944.2(CEP85):c.863A>G (p.Gln288Arg)	CEP85 (Q288R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559355	NM_001319944.2(CEP85):c.926A>G (p.His309Arg)	CEP85 (H309R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395939	NM_001319944.2(CEP85):c.1005C>A (p.His335Gln)	CEP85 (H335Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492418	NM_001319944.2(CEP85):c.1023G>C (p.Glu341Asp)	CEP85 (E290D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143060	NM_001319944.2(CEP85):c.1028T>A (p.Leu343His)	CEP85 (L343H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292008	NM_001319944.2(CEP85):c.1076G>A (p.Arg359Gln)	CEP85 (R308Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143061	NM_001319944.2(CEP85):c.1120G>C (p.Ala374Pro)	CEP85 (A323P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285857	NM_001319944.2(CEP85):c.1186G>A (p.Ala396Thr)	CEP85 (A396T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727178	NM_001319944.2(CEP85):c.1215G>T (p.Leu405Phe)	CEP85 (L354F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2227385	NM_001319944.2(CEP85):c.1307A>T (p.Lys436Met)	CEP85 (K436M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526808	NM_001319944.2(CEP85):c.1310A>C (p.His437Pro)	CEP85 (H386P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143062	NM_001319944.2(CEP85):c.1315G>C (p.Glu439Gln)	CEP85 (E388Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363794	NM_001319944.2(CEP85):c.1346A>G (p.Lys449Arg)	CEP85 (K398R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602994	NM_001319944.2(CEP85):c.1367A>G (p.Asn456Ser)	CEP85 (N405S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263518	NM_001319944.2(CEP85):c.1442G>A (p.Arg481His)	CEP85 (R430H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475143	NM_001319944.2(CEP85):c.1463C>T (p.Thr488Ile)	CEP85 (T437I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555659	NM_001319944.2(CEP85):c.1605A>T (p.Glu535Asp)	CEP85 (E535D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392070	NM_001319944.2(CEP85):c.1633T>G (p.Ser545Ala)	CEP85 (S545A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143064	NM_001319944.2(CEP85):c.1677G>C (p.Glu559Asp)	CEP85 (E559D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720519	NM_001319944.2(CEP85):c.1744-4T>G	CEP85	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2358718	NM_001319944.2(CEP85):c.1859G>A (p.Arg620Gln)	CEP85 (R620Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326920	NM_001319944.2(CEP85):c.1894G>A (p.Val632Met)	CEP85 (V632M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143065	NM_001319944.2(CEP85):c.1963C>G (p.Gln655Glu)	CEP85, LOC126805668 (Q604E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569047	NM_001319944.2(CEP85):c.2036G>T (p.Ser679Ile)	CEP85, LOC126805668 (S111I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266277	NM_001319944.2(CEP85):c.2189A>C (p.Glu730Ala)	CEP85 (E680A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610388	NM_001319944.2(CEP85):c.2206C>T (p.Arg736Cys)	CEP85 (R169C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266279	NM_001319944.2(CEP85):c.2236A>G (p.Met746Val)	CEP85 (M179V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 1341062	GRCh37/hg19 1p36.11(chr1:26246213-27044118)x3	ARID1A, CATSPER4 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1072550	NC_000001.10:g.(?_25870180)_(26795632_?)del	AUNIP, CATSPER4 +22 more	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
Select item 687260	GRCh37/hg19 1p36.11(chr1:26603699-26903828)x3	CD52, CEP85 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 60