CEP170B[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3142662	NM_001112726.3(CEP170B):c.11C>T (p.Thr4Met)	CEP170B (T4M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266100	NM_001112726.3(CEP170B):c.40G>C (p.Ala14Pro)	CEP170B (A14P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491423	NM_001112726.3(CEP170B):c.175G>A (p.Asp59Asn)	CEP170B (D59N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644623	NM_001112726.3(CEP170B):c.198G>A (p.Thr66=)	CEP170B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2460050	NM_001112726.3(CEP170B):c.211A>G (p.Met71Val)	CEP170B (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3038267	NM_001112726.3(CEP170B):c.234C>T (p.Tyr78=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3142679	NM_001112726.3(CEP170B):c.250A>G (p.Asn84Asp)	CEP170B (N14D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058985	NM_001112726.3(CEP170B):c.267C>T (p.Phe89=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 2644624	NM_001112726.3(CEP170B):c.273C>T (p.Tyr91=)	CEP170B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3266085	NM_001112726.3(CEP170B):c.299G>A (p.Arg100His)	CEP170B (R100H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055708	NM_001112726.3(CEP170B):c.318G>A (p.Pro106=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3056165	NM_001112726.3(CEP170B):c.342G>A (p.Lys114=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 2255067	NM_001112726.3(CEP170B):c.367G>A (p.Val123Met)	CEP170B (V53M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058725	NM_001112726.3(CEP170B):c.381G>A (p.Ala127=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 787955	NM_001112726.3(CEP170B):c.439A>C (p.Arg147=)	CEP170B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2399464	NM_001112726.3(CEP170B):c.443C>T (p.Pro148Leu)	CEP170B (P78L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2249825	NM_001112726.3(CEP170B):c.526G>A (p.Asp176Asn)	CEP170B (D106N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142703	NM_001112726.3(CEP170B):c.581G>A (p.Arg194His)	CEP170B (R124H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058875	NM_001112726.3(CEP170B):c.594A>C (p.Pro198=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3266079	NM_001112726.3(CEP170B):c.626G>A (p.Arg209His)	CEP170B (R209H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217636	NM_001112726.3(CEP170B):c.628G>A (p.Ala210Thr)	CEP170B (A140T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142704	NM_001112726.3(CEP170B):c.629C>T (p.Ala210Val)	CEP170B (A140V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367777	NM_001112726.3(CEP170B):c.631C>A (p.Pro211Thr)	CEP170B (P211T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619637	NM_001112726.3(CEP170B):c.640C>A (p.Pro214Thr)	CEP170B (P144T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557473	NM_001112726.3(CEP170B):c.644A>G (p.Gln215Arg)	CEP170B (Q145R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056334	NM_001112726.3(CEP170B):c.678C>T (p.Phe226=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3142705	NM_001112726.3(CEP170B):c.689C>T (p.Thr230Met)	CEP170B (T160M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519995	NM_001112726.3(CEP170B):c.701C>T (p.Pro234Leu)	CEP170B (P234L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044921	NM_001112726.3(CEP170B):c.707C>T (p.Pro236Leu)	CEP170B (P166L +1 more)	Single nucleotide variant (missense variant)	CEP170B-related disorder	GBenign
Select item 2519622	NM_001112726.3(CEP170B):c.718C>G (p.Pro240Ala)	CEP170B (P170A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554778	NM_001112726.3(CEP170B):c.728C>T (p.Pro243Leu)	CEP170B (P173L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268317	NM_001112726.3(CEP170B):c.752A>T (p.Asp251Val)	CEP170B (D251V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037330	NM_001112726.3(CEP170B):c.753T>C (p.Asp251=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 781153	NM_001112726.3(CEP170B):c.776C>T (p.Ala259Val)	CEP170B (A189V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3142706	NM_001112726.3(CEP170B):c.794G>A (p.Ser265Asn)	CEP170B (S195N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038796	NM_001112726.3(CEP170B):c.813C>T (p.Ile271=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 2462659	NM_001112726.3(CEP170B):c.883C>T (p.Arg295Trp)	CEP170B (R225W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041289	NM_001112726.3(CEP170B):c.893C>T (p.Pro298Leu)	CEP170B (P228L +1 more)	Single nucleotide variant (missense variant)	CEP170B-related disorder	GBenign
Select item 3045284	NM_001112726.3(CEP170B):c.905C>T (p.Ala302Val)	CEP170B (A232V +1 more)	Single nucleotide variant (missense variant)	CEP170B-related disorder	GLikely benign
Select item 3049786	NM_001112726.3(CEP170B):c.936C>G (p.Thr312=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 2616467	NM_001112726.3(CEP170B):c.981C>G (p.His327Gln)	CEP170B (H257Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286524	NM_001112726.3(CEP170B):c.983G>A (p.Arg328Gln)	CEP170B (R258Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570185	NM_001112726.3(CEP170B):c.1003C>T (p.Arg335Cys)	CEP170B (R265C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336770	NM_001112726.3(CEP170B):c.1008C>G (p.His336Gln)	CEP170B (H266Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516346	NM_001112726.3(CEP170B):c.1039C>T (p.Arg347Cys)	CEP170B (R347C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142661	NM_001112726.3(CEP170B):c.1046T>C (p.Leu349Pro)	CEP170B (L349P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266077	NM_001112726.3(CEP170B):c.1058A>G (p.Lys353Arg)	CEP170B (K283R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060905	NM_001112726.3(CEP170B):c.1062C>T (p.His354=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 2382598	NM_001112726.3(CEP170B):c.1093C>T (p.Pro365Ser)	CEP170B (P295S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 978628	NM_001112726.3(CEP170B):c.1102A>G (p.Lys368Glu)	CEP170B (K298E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3060799	NM_001112726.3(CEP170B):c.1106C>T (p.Ala369Val)	CEP170B (A299V +1 more)	Single nucleotide variant (missense variant)	CEP170B-related disorder	GLikely benign
Select item 3060008	NM_001112726.3(CEP170B):c.1119T>C (p.Ala373=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 2252576	NM_001112726.3(CEP170B):c.1132G>A (p.Glu378Lys)	CEP170B (E378K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266082	NM_001112726.3(CEP170B):c.1153C>T (p.Arg385Trp)	CEP170B (R315W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052646	NM_001112726.3(CEP170B):c.1227C>T (p.Phe409=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3058990	NM_001112726.3(CEP170B):c.1239A>G (p.Thr413=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 2299526	NM_001112726.3(CEP170B):c.1277C>T (p.Pro426Leu)	CEP170B (P356L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052783	NM_001112726.3(CEP170B):c.1296C>T (p.Ala432=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3142663	NM_001112726.3(CEP170B):c.1306C>T (p.Arg436Cys)	CEP170B (R366C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214640	NM_001112726.3(CEP170B):c.1316C>T (p.Thr439Met)	CEP170B (T439M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041413	NM_001112726.3(CEP170B):c.1317G>A (p.Thr439=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3055568	NM_001112726.3(CEP170B):c.1323C>T (p.Ala441=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3266076	NM_001112726.3(CEP170B):c.1360G>T (p.Ala454Ser)	CEP170B (A454S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465722	NM_001112726.3(CEP170B):c.1364G>A (p.Gly455Glu)	CEP170B (G385E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142664	NM_001112726.3(CEP170B):c.1393G>A (p.Gly465Ser)	CEP170B (G395S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142665	NM_001112726.3(CEP170B):c.1424G>A (p.Arg475Gln)	CEP170B (R475Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058761	NM_001112726.3(CEP170B):c.1425G>T (p.Arg475=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 2547003	NM_001112726.3(CEP170B):c.1433G>C (p.Ser478Thr)	CEP170B (S408T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040801	NM_001112726.3(CEP170B):c.1439C>T (p.Ser480Leu)	CEP170B (S410L +1 more)	Single nucleotide variant (missense variant)	CEP170B-related disorder	GLikely benign
Select item 2361712	NM_001112726.3(CEP170B):c.1451G>A (p.Arg484Gln)	CEP170B (R414Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050366	NM_001112726.3(CEP170B):c.1470C>T (p.Phe490=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 2316227	NM_001112726.3(CEP170B):c.1483C>T (p.Arg495Cys)	CEP170B (R495C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142666	NM_001112726.3(CEP170B):c.1484G>A (p.Arg495His)	CEP170B (R425H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325680	NM_001112726.3(CEP170B):c.1486C>T (p.Arg496Cys)	CEP170B (R496C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385016	NM_001112726.3(CEP170B):c.1487G>A (p.Arg496His)	CEP170B (R496H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142667	NM_001112726.3(CEP170B):c.1493G>A (p.Arg498His)	CEP170B (R428H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681717	NM_001112726.3(CEP170B):c.1513G>A (p.Ala505Thr)	CEP170B (A435T +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3354775	NM_001112726.3(CEP170B):c.1525C>A (p.Arg509=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3266087	NM_001112726.3(CEP170B):c.1538C>T (p.Pro513Leu)	CEP170B (P513L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041118	NM_001112726.3(CEP170B):c.1543G>A (p.Ala515Thr)	CEP170B (A445T +1 more)	Single nucleotide variant (missense variant)	CEP170B-related disorder	GLikely benign
Select item 2254812	NM_001112726.3(CEP170B):c.1547G>A (p.Arg516Gln)	CEP170B (R446Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221858	NM_001112726.3(CEP170B):c.1558G>A (p.Glu520Lys)	CEP170B (E450K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040376	NM_001112726.3(CEP170B):c.1572G>A (p.Pro524=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3142668	NM_001112726.3(CEP170B):c.1577T>C (p.Leu526Pro)	CEP170B (L456P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056306	NM_001112726.3(CEP170B):c.1623G>C (p.Pro541=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3266081	NM_001112726.3(CEP170B):c.1624A>C (p.Thr542Pro)	CEP170B (T472P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055683	NM_001112726.3(CEP170B):c.1629A>C (p.Pro543=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3057111	NM_001112726.3(CEP170B):c.1632G>C (p.Pro544=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3053452	NM_001112726.3(CEP170B):c.1632G>A (p.Pro544=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 2411912	NM_001112726.3(CEP170B):c.1636G>A (p.Ala546Thr)	CEP170B (A546T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235500	NM_001112726.3(CEP170B):c.1667G>A (p.Arg556Gln)	CEP170B (R556Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059697	NM_001112726.3(CEP170B):c.1683C>T (p.Asp561=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3142669	NM_001112726.3(CEP170B):c.1699G>A (p.Ala567Thr)	CEP170B (A567T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271239	NM_001112726.3(CEP170B):c.1727C>T (p.Ala576Val)	CEP170B (A576V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369722	NM_001112726.3(CEP170B):c.1736C>T (p.Thr579Met)	CEP170B (T579M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060305	NM_001112726.3(CEP170B):c.1752C>T (p.Ala584=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3142670	NM_001112726.3(CEP170B):c.1765G>A (p.Asp589Asn)	CEP170B (D519N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363223	NM_001112726.3(CEP170B):c.1811C>T (p.Ser604Phe)	CEP170B (S534F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232730	NM_001112726.3(CEP170B):c.1843G>A (p.Asp615Asn)	CEP170B (D615N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238203	NM_001112726.3(CEP170B):c.1849G>A (p.Asp617Asn)	CEP170B (D547N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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