CEP295[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	AAMDC, ACER3 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 2487041	NM_033395.2(CEP295):c.101T>C (p.Leu34Ser)	CEP295 (L34S)	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 778542	NM_033395.2(CEP295):c.238C>A (p.Gln80Lys)	CEP295 (Q80K)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2405934	NM_033395.2(CEP295):c.497G>A (p.Ser166Asn)	CEP295 (S166N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313830	NM_033395.2(CEP295):c.509C>G (p.Pro170Arg)	CEP295 (P170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307771	NM_033395.2(CEP295):c.512C>T (p.Pro171Leu)	CEP295 (P171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272947	NM_033395.2(CEP295):c.514C>G (p.Pro172Ala)	CEP295 (P172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777857	NM_033395.2(CEP295):c.535G>A (p.Glu179Lys)	CEP295 (E179K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2229019	NM_033395.2(CEP295):c.548T>A (p.Ile183Asn)	CEP295 (I183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776647	NM_033395.2(CEP295):c.634C>T (p.Arg212Cys)	CEP295 (R212C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2330572	NM_033395.2(CEP295):c.635G>A (p.Arg212His)	CEP295 (R212H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2518561	NM_033395.2(CEP295):c.738A>T (p.Gln246His)	CEP295 (Q246H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496309	NM_033395.2(CEP295):c.747G>T (p.Lys249Asn)	CEP295 (K249N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406916	NM_033395.2(CEP295):c.790C>A (p.Leu264Ile)	CEP295 (L264I)	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 3142858	NM_033395.2(CEP295):c.856C>G (p.Leu286Val)	CEP295 (L286V)	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 2354505	NM_033395.2(CEP295):c.878G>A (p.Arg293His)	CEP295 (R293H)	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 2300093	NM_033395.2(CEP295):c.991T>A (p.Leu331Met)	CEP295 (L331M)	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 3142802	NM_033395.2(CEP295):c.1033C>T (p.Leu345Phe)	CEP295 (L345F)	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 3142804	NM_033395.2(CEP295):c.1161T>A (p.Phe387Leu)	CEP295 (F387L)	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 710061	NM_033395.2(CEP295):c.1319C>T (p.Ser440Phe)	CEP295 (S440F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2392460	NM_033395.2(CEP295):c.1352C>G (p.Thr451Arg)	CEP295 (T451R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510544	NM_033395.2(CEP295):c.1360A>G (p.Ile454Val)	CEP295 (I454V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2244343	NM_033395.2(CEP295):c.1463C>T (p.Ala488Val)	CEP295 (A488V)	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 2539925	NM_033395.2(CEP295):c.1487C>T (p.Pro496Leu)	CEP295 (P496L)	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 3062331	NM_033395.2(CEP295):c.1630C>T (p.Gln544Ter)	CEP295 (Q544*)	Single nucleotide variant (nonsense)	Seckel syndrome 11	GPathogenic
Select item 2345357	NM_033395.2(CEP295):c.1652A>G (p.Lys551Arg)	CEP295 (K551R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405722	NM_033395.2(CEP295):c.1662A>C (p.Gln554His)	CEP295 (Q554H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3062333	NM_033395.2(CEP295):c.1685C>T (p.Pro562Leu)	CEP295 (P562L)	Single nucleotide variant (missense variant)	Seckel syndrome 11	GPathogenic
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 2236531	NM_033395.2(CEP295):c.1736G>A (p.Arg579His)	CEP295 (R579H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260849	NM_033395.2(CEP295):c.1801A>G (p.Lys601Glu)	CEP295 (K601E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256951	NM_033395.2(CEP295):c.1847C>T (p.Ser616Leu)	CEP295 (S616L)	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 2216696	NM_033395.2(CEP295):c.1913C>T (p.Pro638Leu)	CEP295 (P638L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476447	NM_033395.2(CEP295):c.1931A>T (p.His644Leu)	CEP295 (H644L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267901	NM_033395.2(CEP295):c.1949G>A (p.Arg650Lys)	CEP295 (R650K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212539	NM_033395.2(CEP295):c.2080C>A (p.Arg694Ser)	CEP295 (R694S)	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 3142811	NM_033395.2(CEP295):c.2185G>T (p.Asp729Tyr)	CEP295 (D729Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2392641	NM_033395.2(CEP295):c.2299C>A (p.Gln767Lys)	CEP295 (Q767K)	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 2320465	NM_033395.2(CEP295):c.2377C>T (p.His793Tyr)	CEP295 (H793Y)	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 2315747	NM_033395.2(CEP295):c.2429C>G (p.Pro810Arg)	CEP295 (P810R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468399	NM_033395.2(CEP295):c.2444G>C (p.Ser815Thr)	CEP295 (S815T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465486	NM_033395.2(CEP295):c.2473A>G (p.Ile825Val)	CEP295 (I825V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493725	NM_033395.2(CEP295):c.2510C>T (p.Ser837Leu)	CEP295 (S837L)	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 3142817	NM_033395.2(CEP295):c.2552A>G (p.Gln851Arg)	CEP295 (Q851R)	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 3142820	NM_033395.2(CEP295):c.2591C>T (p.Thr864Ile)	CEP295 (T864I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710062	NM_033395.2(CEP295):c.2591C>G (p.Thr864Ser)	CEP295 (T864S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710063	NM_033395.2(CEP295):c.2592T>A (p.Thr864=)	CEP295	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2261392	NM_033395.2(CEP295):c.2597A>G (p.Glu866Gly)	CEP295 (E866G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 917932	NM_033395.2(CEP295):c.2603del (p.Gln868fs)	CEP295 (Q868fs)	Deletion (frameshift variant)	Meckel-Gruber syndrome	GUncertain significance
Select item 710064	NM_033395.2(CEP295):c.2663T>C (p.Phe888Ser)	CEP295 (F888S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2307639	NM_033395.2(CEP295):c.2669C>T (p.Pro890Leu)	CEP295 (P890L)	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 3142822	NM_033395.2(CEP295):c.2806C>T (p.Arg936Cys)	CEP295 (R936C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257830	NM_033395.2(CEP295):c.2857C>T (p.Leu953Phe)	CEP295 (L953F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510397	NM_033395.2(CEP295):c.2883G>C (p.Lys961Asn)	CEP295 (K961N)	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 2614202	NM_033395.2(CEP295):c.2924A>G (p.Tyr975Cys)	CEP295 (Y975C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355265	NM_033395.2(CEP295):c.2930A>G (p.His977Arg)	CEP295 (H977R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307706	NM_033395.2(CEP295):c.2948A>G (p.Asp983Gly)	CEP295 (D983G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710065	NM_033395.2(CEP295):c.2964C>T (p.Ser988=)	CEP295	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2370601	NM_033395.2(CEP295):c.3035C>G (p.Thr1012Arg)	CEP295 (T1012R)	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 710066	NM_033395.2(CEP295):c.3076G>A (p.Glu1026Lys)	CEP295 (E1026K)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2390246	NM_033395.2(CEP295):c.3109C>A (p.Pro1037Thr)	CEP295 (P1037T)	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 2371866	NM_033395.2(CEP295):c.3224A>T (p.His1075Leu)	CEP295 (H1075L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246279	NM_033395.2(CEP295):c.3265T>A (p.Leu1089Met)	CEP295 (L1089M)	Single nucleotide variant (missense variant)	not specified	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 2523552	NM_033395.2(CEP295):c.3551A>C (p.Gln1184Pro)	CEP295 (Q1184P)	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 2588261	NM_033395.2(CEP295):c.3572G>A (p.Ser1191Asn)	CEP295 (S1191N)	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 2232299	NM_033395.2(CEP295):c.3653A>G (p.Gln1218Arg)	CEP295 (Q1218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320466	NM_033395.2(CEP295):c.3744A>T (p.Gln1248His)	CEP295 (Q1248H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385047	NM_033395.2(CEP295):c.3795C>A (p.Asp1265Glu)	CEP295 (D1265E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247410	NM_033395.2(CEP295):c.3859G>A (p.Gly1287Ser)	CEP295 (G1287S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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