ClinVar for Gene (Select 85459) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351087	NM_033395.2(CEP295):c.7593C>T (p.Gly2531=)	CEP295	Single nucleotide variant (synonymous variant)	CEP295-related condition	GLikely benign
Select item 3266177	NM_033395.2(CEP295):c.7668G>T (p.Arg2556Ser)	CEP295 (R2556S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266176	NM_033395.2(CEP295):c.4115C>T (p.Ala1372Val)	CEP295 (A1372V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266175	NM_033395.2(CEP295):c.3269G>T (p.Gly1090Val)	CEP295 (G1090V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266174	NM_033395.2(CEP295):c.825G>C (p.Arg275Ser)	CEP295 (R275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266173	NM_033395.2(CEP295):c.3523G>A (p.Val1175Ile)	CEP295 (V1175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266172	NM_033395.2(CEP295):c.6080A>G (p.His2027Arg)	CEP295 (H2027R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266171	NM_033395.2(CEP295):c.5165A>G (p.His1722Arg)	CEP295 (H1722R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266170	NM_033395.2(CEP295):c.3940C>G (p.Pro1314Ala)	CEP295 (P1314A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266169	NM_033395.2(CEP295):c.2657C>T (p.Ser886Leu)	CEP295 (S886L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266168	NM_033395.2(CEP295):c.1184G>A (p.Arg395Gln)	CEP295 (R395Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266167	NM_033395.2(CEP295):c.2046T>G (p.Phe682Leu)	CEP295 (F682L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266166	NM_033395.2(CEP295):c.2614C>T (p.Leu872Phe)	CEP295 (L872F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266165	NM_033395.2(CEP295):c.3695G>A (p.Ser1232Asn)	CEP295 (S1232N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266164	NM_033395.2(CEP295):c.5546G>C (p.Ser1849Thr)	CEP295 (S1849T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266163	NM_033395.2(CEP295):c.1883T>C (p.Ile628Thr)	CEP295 (I628T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266162	NM_033395.2(CEP295):c.3004C>G (p.His1002Asp)	CEP295 (H1002D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266161	NM_033395.2(CEP295):c.3944T>G (p.Leu1315Arg)	CEP295 (L1315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266159	NM_033395.2(CEP295):c.5538T>G (p.His1846Gln)	CEP295 (H1846Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266158	NM_033395.2(CEP295):c.6371C>T (p.Thr2124Ile)	CEP295 (T2124I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266157	NM_033395.2(CEP295):c.2195C>G (p.Thr732Arg)	CEP295 (T732R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142859	NM_033395.2(CEP295):c.880A>G (p.Ser294Gly)	CEP295 (S294G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142858	NM_033395.2(CEP295):c.856C>G (p.Leu286Val)	CEP295 (L286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142857	NM_033395.2(CEP295):c.821G>A (p.Arg274His)	CEP295 (R274H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142856	NM_033395.2(CEP295):c.7633A>G (p.Thr2545Ala)	CEP295 (T2545A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142854	NM_033395.2(CEP295):c.7408C>T (p.Arg2470Cys)	CEP295 (R2470C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142853	NM_033395.2(CEP295):c.7324G>C (p.Val2442Leu)	CEP295 (V2442L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142852	NM_033395.2(CEP295):c.7225A>G (p.Thr2409Ala)	CEP295 (T2409A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142851	NM_033395.2(CEP295):c.7136C>T (p.Ser2379Leu)	CEP295 (S2379L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142850	NM_033395.2(CEP295):c.706C>T (p.Arg236Trp)	CEP295 (R236W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142849	NM_033395.2(CEP295):c.7069C>G (p.Pro2357Ala)	CEP295 (P2357A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142848	NM_033395.2(CEP295):c.6674T>A (p.Ile2225Asn)	CEP295 (I2225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142847	NM_033395.2(CEP295):c.6528G>C (p.Gln2176His)	CEP295 (Q2176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142846	NM_033395.2(CEP295):c.6514T>C (p.Phe2172Leu)	CEP295 (F2172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142845	NM_033395.2(CEP295):c.6503C>G (p.Ser2168Cys)	CEP295 (S2168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142844	NM_033395.2(CEP295):c.6329C>A (p.Ser2110Tyr)	CEP295 (S2110Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142843	NM_033395.2(CEP295):c.6154A>G (p.Ile2052Val)	CEP295 (I2052V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142842	NM_033395.2(CEP295):c.6151T>C (p.Tyr2051His)	CEP295 (Y2051H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142841	NM_033395.2(CEP295):c.5906T>C (p.Leu1969Pro)	CEP295 (L1969P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142840	NM_033395.2(CEP295):c.5810A>G (p.Glu1937Gly)	CEP295 (E1937G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142839	NM_033395.2(CEP295):c.5609T>C (p.Ile1870Thr)	CEP295 (I1870T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142838	NM_033395.2(CEP295):c.5312A>G (p.Gln1771Arg)	CEP295 (Q1771R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142837	NM_033395.2(CEP295):c.5237A>T (p.His1746Leu)	CEP295 (H1746L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142836	NM_033395.2(CEP295):c.5073A>C (p.Gln1691His)	CEP295 (Q1691H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142835	NM_033395.2(CEP295):c.5042C>A (p.Pro1681His)	CEP295 (P1681H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142834	NM_033395.2(CEP295):c.4628C>T (p.Ser1543Phe)	CEP295 (S1543F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142833	NM_033395.2(CEP295):c.4573G>T (p.Val1525Phe)	CEP295 (V1525F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142832	NM_033395.2(CEP295):c.3965A>C (p.Lys1322Thr)	CEP295 (K1322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142831	NM_033395.2(CEP295):c.3939A>C (p.Glu1313Asp)	CEP295 (E1313D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142830	NM_033395.2(CEP295):c.3637G>A (p.Glu1213Lys)	CEP295 (E1213K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142829	NM_033395.2(CEP295):c.3557T>C (p.Phe1186Ser)	CEP295 (F1186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142828	NM_033395.2(CEP295):c.3209C>T (p.Thr1070Ile)	CEP295 (T1070I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142827	NM_033395.2(CEP295):c.3086T>A (p.Leu1029His)	CEP295 (L1029H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142826	NM_033395.2(CEP295):c.3075C>G (p.Ser1025Arg)	CEP295 (S1025R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142825	NM_033395.2(CEP295):c.3004C>T (p.His1002Tyr)	CEP295 (H1002Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142823	NM_033395.2(CEP295):c.2884G>C (p.Asp962His)	CEP295 (D962H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142822	NM_033395.2(CEP295):c.2806C>T (p.Arg936Cys)	CEP295 (R936C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142821	NM_033395.2(CEP295):c.2764G>A (p.Val922Ile)	CEP295 (V922I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142820	NM_033395.2(CEP295):c.2591C>T (p.Thr864Ile)	CEP295 (T864I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142818	NM_033395.2(CEP295):c.2560T>A (p.Leu854Ile)	CEP295 (L854I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142817	NM_033395.2(CEP295):c.2552A>G (p.Gln851Arg)	CEP295 (Q851R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142816	NM_033395.2(CEP295):c.2522C>T (p.Thr841Ile)	CEP295 (T841I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142815	NM_033395.2(CEP295):c.245T>C (p.Leu82Ser)	CEP295 (L82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142814	NM_033395.2(CEP295):c.2378A>T (p.His793Leu)	CEP295 (H793L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142813	NM_033395.2(CEP295):c.2359G>C (p.Val787Leu)	CEP295 (V787L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142812	NM_033395.2(CEP295):c.2233T>C (p.Ser745Pro)	CEP295 (S745P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142811	NM_033395.2(CEP295):c.2185G>T (p.Asp729Tyr)	CEP295 (D729Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142810	NM_033395.2(CEP295):c.1913C>A (p.Pro638Gln)	CEP295 (P638Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142808	NM_033395.2(CEP295):c.1699G>A (p.Val567Ile)	CEP295 (V567I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142807	NM_033395.2(CEP295):c.1684C>G (p.Pro562Ala)	CEP295 (P562A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142805	NM_033395.2(CEP295):c.1307A>G (p.Glu436Gly)	CEP295 (E436G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142804	NM_033395.2(CEP295):c.1161T>A (p.Phe387Leu)	CEP295 (F387L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142803	NM_033395.2(CEP295):c.1092A>T (p.Glu364Asp)	CEP295 (E364D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142802	NM_033395.2(CEP295):c.1033C>T (p.Leu345Phe)	CEP295 (L345F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142801	NM_033395.2(CEP295):c.1032C>G (p.Asp344Glu)	CEP295 (D344E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062334	NM_033395.2(CEP295):c.163_164del (p.Arg55fs)	CEP295 (R55fs)	Microsatellite (frameshift variant)	Seckel syndrome 11	GPathogenic
Select item 3062333	NM_033395.2(CEP295):c.1685C>T (p.Pro562Leu)	CEP295 (P562L)	Single nucleotide variant (missense variant)	Seckel syndrome 11	GPathogenic
Select item 3062332	NM_033395.2(CEP295):c.4558C>T (p.Arg1520Ter)	CEP295 (R1520*)	Single nucleotide variant (nonsense)	Seckel syndrome 11	GPathogenic
Select item 3062331	NM_033395.2(CEP295):c.1630C>T (p.Gln544Ter)	CEP295 (Q544*)	Single nucleotide variant (nonsense)	Seckel syndrome 11	GPathogenic
Select item 2798136	NM_033395.2(CEP295):c.7767+19_7767+20del	CEP295	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2685417	GRCh37/hg19 11q21(chr11:93454394-93535046)x1	C11orf54, CEP295 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2622717	NM_033395.2(CEP295):c.3539A>C (p.Lys1180Thr)	CEP295 (K1180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619029	NM_033395.2(CEP295):c.3956G>C (p.Ser1319Thr)	CEP295 (S1319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614202	NM_033395.2(CEP295):c.2924A>G (p.Tyr975Cys)	CEP295 (Y975C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2605947	NM_033395.2(CEP295):c.5887A>G (p.Thr1963Ala)	CEP295 (T1963A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599507	NM_033395.2(CEP295):c.1525C>G (p.Gln509Glu)	CEP295 (Q509E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590894	NM_033395.2(CEP295):c.4022C>T (p.Ser1341Leu)	CEP295 (S1341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588261	NM_033395.2(CEP295):c.3572G>A (p.Ser1191Asn)	CEP295 (S1191N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561166	NM_033395.2(CEP295):c.4306C>T (p.Pro1436Ser)	CEP295 (P1436S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2557006	NM_033395.2(CEP295):c.6299A>C (p.Asp2100Ala)	CEP295 (D2100A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555567	NM_033395.2(CEP295):c.6121C>G (p.His2041Asp)	CEP295 (H2041D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546258	NM_033395.2(CEP295):c.4834G>A (p.Glu1612Lys)	CEP295 (E1612K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541518	NM_033395.2(CEP295):c.3909A>C (p.Leu1303Phe)	CEP295 (L1303F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539925	NM_033395.2(CEP295):c.1487C>T (p.Pro496Leu)	CEP295 (P496L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539091	NM_033395.2(CEP295):c.2135A>C (p.Gln712Pro)	CEP295 (Q712P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536798	NM_033395.2(CEP295):c.7373T>C (p.Ile2458Thr)	CEP295 (I2458T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533963	NM_033395.2(CEP295):c.877C>T (p.Arg293Cys)	CEP295 (R293C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531082	NM_033395.2(CEP295):c.1468A>G (p.Ser490Gly)	CEP295 (S490G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523552	NM_033395.2(CEP295):c.3551A>C (p.Gln1184Pro)	CEP295 (Q1184P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519745	NM_033395.2(CEP295):c.4264A>G (p.Ile1422Val)	CEP295 (I1422V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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