"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CEP63"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128711	NM_001353108.3(CEP63):c.5A>T (p.Glu2Val)	CEP63 (E2V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1506610	NM_001353108.3(CEP63):c.23T>C (p.Ile8Thr)	CEP63 (I8T)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 501990	NM_001353108.3(CEP63):c.31C>T (p.Arg11Ter)	CEP63 (R11* +1 more)	Single nucleotide variant (nonsense +3 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2904165	NM_001353108.3(CEP63):c.33A>G (p.Arg11=)	CEP63 (R22G)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1446950	NM_001353108.3(CEP63):c.38A>G (p.His13Arg)	CEP63 (H13R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2968193	NM_001353108.3(CEP63):c.40G>A (p.Gly14Ser)	CEP63 (W24* +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2071849	NM_001353108.3(CEP63):c.44G>A (p.Gly15Glu)	CEP63 (G15E)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2194538	NM_001353108.3(CEP63):c.56C>T (p.Thr19Ile)	CEP63 (T19I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1529258	NM_001353108.3(CEP63):c.61T>G (p.Cys21Gly)	CEP63 (C21G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 128712	NM_001353108.3(CEP63):c.63T>C (p.Cys21=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 712055	NM_001353108.3(CEP63):c.90A>G (p.Lys30=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1351640	NM_001353108.3(CEP63):c.122C>G (p.Ser41Cys)	CEP63 (S41C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2074315	NM_001353108.3(CEP63):c.136C>T (p.Arg46Cys)	CEP63 (R18C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1905196	NM_001353108.3(CEP63):c.137G>A (p.Arg46His)	CEP63 (R46H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2747812	NM_001353108.3(CEP63):c.155C>G (p.Thr52Ser)	CEP63 (T24S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 755969	NM_001353108.3(CEP63):c.160T>C (p.Leu54=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1973666	NM_001353108.3(CEP63):c.169C>T (p.Arg57Cys)	CEP63 (R29C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1924625	NM_001353108.3(CEP63):c.170G>A (p.Arg57His)	CEP63 (R29H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1943748	NM_001353108.3(CEP63):c.178G>A (p.Glu60Lys)	CEP63 (E69K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2202380	NM_001353108.3(CEP63):c.193A>G (p.Arg65Gly)	CEP63 (R37G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 748025	NM_001353108.3(CEP63):c.195G>A (p.Arg65=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1510005	NM_001353108.3(CEP63):c.222G>A (p.Glu74=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1987434	NM_001353108.3(CEP63):c.222+20C>G	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019176	NM_001353108.3(CEP63):c.240del (p.Gln80fs)	CEP63 (Q89fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2037036	NM_001353108.3(CEP63):c.267G>A (p.Lys89=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1949328	NM_001353108.3(CEP63):c.274A>G (p.Met92Val)	CEP63 (M92V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2092184	NM_001353108.3(CEP63):c.285A>C (p.Glu95Asp)	CEP63 (E104D +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2001463	NM_001353108.3(CEP63):c.327A>T (p.Ile109=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2112530	NM_001353108.3(CEP63):c.338G>T (p.Ser113Ile)	CEP63 (S122I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 765058	NM_001353108.3(CEP63):c.378A>G (p.Arg126=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2712437	NM_001353108.3(CEP63):c.387C>A (p.Thr129=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1992064	NM_001353108.3(CEP63):c.397A>G (p.Arg133Gly)	CEP63 (R142G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1620363	NM_001353108.3(CEP63):c.432A>G (p.Ala144=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2148245	NM_001353108.3(CEP63):c.437T>C (p.Ile146Thr)	CEP63 (I155T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001629	NM_001353108.3(CEP63):c.441+1G>A	CEP63	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2816043	NM_001353108.3(CEP63):c.442-4_442-3del	CEP63	Deletion (intron variant)	not provided	GUncertain significance
Select item 2719545	NM_001353108.3(CEP63):c.449G>A (p.Arg150His)	CEP63 (R122H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2894131	NM_001353108.3(CEP63):c.474G>A (p.Lys158=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998120	NM_001353108.3(CEP63):c.478C>T (p.Arg160Cys)	CEP63 (R160C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1404369	NM_001353108.3(CEP63):c.491A>G (p.Gln164Arg)	CEP63 (Q43R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2190895	NM_001353108.3(CEP63):c.499G>A (p.Val167Ile)	CEP63 (V139I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2143588	NM_001353108.3(CEP63):c.538C>T (p.Gln180Ter)	CEP63 (Q152* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 128709	NM_001353108.3(CEP63):c.555G>C (p.Gln185His)	CEP63 (Q185H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1654447	NM_001353108.3(CEP63):c.555+4G>A	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128710	NM_001353108.3(CEP63):c.567C>A (p.Val189=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1448706	NM_001353108.3(CEP63):c.569A>G (p.Asn190Ser)	CEP63 (N190S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 434745	NM_001353108.3(CEP63):c.572G>A (p.Arg191Gln)	CEP63 (R191Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1441092	NM_001353108.3(CEP63):c.577C>T (p.Gln193Ter)	CEP63 (Q165* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2419251	NM_001353108.3(CEP63):c.601T>C (p.Ser201Pro)	CEP63 (S173P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1973555	NM_001353108.3(CEP63):c.631A>G (p.Ser211Gly)	CEP63 (S211G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2880807	NM_001353108.3(CEP63):c.642G>A (p.Glu214=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1444371	NM_001353108.3(CEP63):c.643C>T (p.Arg215Trp)	CEP63 (R224W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 434746	NM_001353108.3(CEP63):c.653A>G (p.Asp218Gly)	CEP63 (D218G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 751481	NM_001353108.3(CEP63):c.659T>G (p.Ile220Ser)	CEP63 (I220S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 377098	NM_001353108.3(CEP63):c.668A>G (p.Asn223Ser)	CEP63 (N223S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 493374	NM_001353108.3(CEP63):c.685C>T (p.Arg229Cys)	CEP63 (R229C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1355607	NM_001353108.3(CEP63):c.686G>A (p.Arg229His)	CEP63 (R108H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2879456	NM_001353108.3(CEP63):c.718del (p.Thr240fs)	CEP63 (T212fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1996889	NM_001353108.3(CEP63):c.756A>G (p.Glu252=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2073767	NM_001353108.3(CEP63):c.764T>A (p.Leu255Ter)	CEP63 (L255* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1374708	NM_001353108.3(CEP63):c.789+3A>G	CEP63	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2081327	NM_001353108.3(CEP63):c.789+6T>C	CEP63	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1920646	NM_001353108.3(CEP63):c.790-12A>G	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 977835	NM_001353108.3(CEP63):c.790-2A>G	CEP63	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1406907	NM_001353108.3(CEP63):c.790G>T (p.Ala264Ser)	CEP63 (A143S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2120261	NM_001353108.3(CEP63):c.791C>T (p.Ala264Val)	CEP63 (A143V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2819246	NM_001353108.3(CEP63):c.792T>C (p.Ala264=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2872570	NM_001353108.3(CEP63):c.846C>T (p.Leu282=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1905565	NM_001353108.3(CEP63):c.880C>T (p.Gln294Ter)	CEP63 (Q173* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1900350	NM_001353108.3(CEP63):c.902A>T (p.Asn301Ile)	CEP63 (N273I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 287199	NM_001353108.3(CEP63):c.905C>G (p.Thr302Ser)	CEP63 (T302S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2005681	NM_001353108.3(CEP63):c.929+12C>G	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936463	NM_001353108.3(CEP63):c.930-4A>G	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2192470	NM_001353108.3(CEP63):c.930-1G>A	CEP63	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 434753	NM_001353108.3(CEP63):c.935G>A (p.Arg312Gln)	CEP63 (R312Q)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 1969515	NM_001353108.3(CEP63):c.946C>G (p.Leu316Val)	CEP63 (L316V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1432808	NM_001353108.3(CEP63):c.955A>G (p.Lys319Glu)	CEP63 (K319E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 782810	NM_001353108.3(CEP63):c.962A>T (p.Tyr321Phe)	CEP63 (Y321F)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GLikely benign
Select item 501986	NM_001353108.3(CEP63):c.973G>A (p.Gly325Arg)	CEP63 (G325R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2707896	NM_001353108.3(CEP63):c.987dup (p.Asp330fs)	CEP63 (D330fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 210705	NM_001353108.3(CEP63):c.989_992del (p.Asp330fs)	CEP63 (D330fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1206034	NM_001353108.3(CEP63):c.990del (p.Asp330fs)	CEP63 (D330fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1479892	NM_001353108.3(CEP63):c.993T>G (p.Ser331Arg)	CEP63 (S331R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2874417	NM_001353108.3(CEP63):c.999C>T (p.Leu333=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2177488	NM_001353108.3(CEP63):c.1047G>A (p.Glu349=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1911799	NM_001353108.3(CEP63):c.1064G>A (p.Gly355Asp)	CEP63 (G355D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2171890	NM_001353108.3(CEP63):c.1067+2T>C	CEP63	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1397895	NM_001353108.3(CEP63):c.1067+3A>C	CEP63	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 128706	NM_001353108.3(CEP63):c.1067+7A>G	CEP63	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1653461	NM_001353108.3(CEP63):c.1067+13A>G	CEP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1991086	NM_001353108.3(CEP63):c.1067+18C>T	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963189	NM_001353108.3(CEP63):c.1068-20A>T	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1513199	NM_001353108.3(CEP63):c.1068-2A>G	CEP63	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2968776	NM_001353108.3(CEP63):c.1099C>T (p.Leu367=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 729559	NM_001353108.3(CEP63):c.1107A>G (p.Gln369=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 739335	NM_001353108.3(CEP63):c.1137G>A (p.Lys379=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 128707	NM_001353108.3(CEP63):c.1155C>A (p.Asn385Lys)	CEP63 (N339K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 2815946	NM_001353108.3(CEP63):c.1159G>T (p.Glu387Ter)	CEP63 (E341* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2093122	NM_001353108.3(CEP63):c.1167A>T (p.Lys389Asn)	CEP63 (K315N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2189863	NM_001353108.3(CEP63):c.1183-10T>G	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign

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