"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CEP41"[ - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 261

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2194096	NM_018718.3(CEP41):c.1122_*1del (p.Lys373_Ter374insTer)	CEP41	Deletion (frameshift variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 958821	NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter)	CEP41 (W284* +2 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1411761	NM_018718.3(CEP41):c.1111C>T (p.Pro371Ser)	CEP41 (P299S +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 956900	NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup)	CEP41	Microsatellite (inframe_insertion +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1015643	NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)	CEP41 (S275G +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1996264	NM_018718.3(CEP41):c.1082C>A (p.Ser361Tyr)	CEP41 (S273Y +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 128704	NM_018718.3(CEP41):c.1081T>C (p.Ser361Pro)	CEP41 (S361P +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15 +1 more	GUncertain significance
Select item 1111708	NM_018718.3(CEP41):c.1080C>T (p.Arg360=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 1444285	NM_018718.3(CEP41):c.1079G>C (p.Arg360Pro)	CEP41 (R360P +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 30843	NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys)	CEP41 (R360C +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 848331	NM_018718.3(CEP41):c.973+404_1077del	CEP41	Deletion (splice acceptor variant)	Joubert syndrome 15	GUncertain significance
Select item 1950743	NM_018718.3(CEP41):c.1075C>T (p.Pro359Ser)	CEP41 (P287S +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 472884	NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg)	CEP41 (S355R +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15 +1 more	GLikely benign
Select item 1614160	NM_018718.3(CEP41):c.1062C>T (p.Ala354=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 1507290	NM_018718.3(CEP41):c.1061C>T (p.Ala354Val)	CEP41 (A282V +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1017542	NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr)	CEP41 (A266T +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 745972	NM_018718.3(CEP41):c.1059C>T (p.Pro353=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 957287	NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser)	CEP41 (G352S +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1656881	NM_018718.3(CEP41):c.1053C>T (p.Gly351=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 1485108	NM_018718.3(CEP41):c.1052G>A (p.Gly351Asp)	CEP41 (G263D +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1136485	NM_018718.3(CEP41):c.1050T>G (p.Gly350=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 2194602	NM_018718.3(CEP41):c.1044G>T (p.Leu348=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 2788811	NM_018718.3(CEP41):c.1042C>T (p.Leu348=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 936966	NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser)	CEP41 (N259S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 847788	NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg)	CEP41 (Q258R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 950540	NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser)	CEP41 (A257S +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 938718	NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr)	CEP41 (A345T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1458543	NM_018718.3(CEP41):c.1032C>T (p.Ser344=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 1441591	NM_018718.3(CEP41):c.1028G>A (p.Arg343Gln)	CEP41 (R255Q +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15 +1 more	GUncertain significance
Select item 961925	NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp)	CEP41 (G341D +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1955139	NM_018718.3(CEP41):c.1018C>G (p.Pro340Ala)	CEP41 (P340A +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 358939	NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)	CEP41 (S337P +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 358940	NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys)	CEP41 (R335K +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1014451	NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg)	CEP41 (G246R +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15 +1 more	GUncertain significance
Select item 2130448	NM_018718.3(CEP41):c.999C>T (p.Ser333=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 941249	NM_018718.3(CEP41):c.997T>C (p.Ser333Pro)	CEP41 (S245P +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 358941	NM_018718.3(CEP41):c.988G>C (p.Ala330Pro)	CEP41 (A330P +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 969732	NM_018718.3(CEP41):c.977G>A (p.Arg326Gln)	CEP41 (R238Q +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 846237	NM_018718.3(CEP41):c.977G>T (p.Arg326Leu)	CEP41 (R238L +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15 +1 more	GUncertain significance
Select item 631996	NM_018718.3(CEP41):c.976C>T (p.Arg326Ter)	CEP41 (R326* +2 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 15	GConflicting classifications of pathogenicity
Select item 788788	NM_018718.3(CEP41):c.974-8C>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15 +1 more	GLikely benign
Select item 2887128	NM_018718.3(CEP41):c.974-19TCTT[3]	CEP41	Microsatellite (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2710394	NM_018718.3(CEP41):c.974-11G>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2135667	NM_018718.3(CEP41):c.974-14C>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1616878	NM_018718.3(CEP41):c.973+16C>A	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1157517	NM_018718.3(CEP41):c.973+15C>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1572925	NM_018718.3(CEP41):c.973+11T>C	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1088233	NM_018718.3(CEP41):c.973+8del	CEP41	Deletion (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1485026	NM_018718.3(CEP41):c.971C>T (p.Pro324Leu)	CEP41 (P324L)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 1920652	NM_018718.3(CEP41):c.965A>G (p.Asp322Gly)	CEP41 (D322G)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 1094029	NM_018718.3(CEP41):c.957G>A (p.Gly319=)	CEP41	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 15	GLikely benign
Select item 1715812	NM_018718.3(CEP41):c.955G>T (p.Gly319Trp)	CEP41 (G319W)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 1572262	NM_018718.3(CEP41):c.954A>G (p.Gln318=)	CEP41	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 15	GLikely benign
Select item 1346007	NM_018718.3(CEP41):c.953A>C (p.Gln318Pro)	CEP41 (Q318P)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 591799	NM_018718.3(CEP41):c.947_948dup (p.Glu317fs)	CEP41 (E317fs)	Microsatellite (frameshift variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 1519127	NM_018718.3(CEP41):c.929T>A (p.Ile310Lys)	CEP41 (I310K)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 1041588	NM_018718.3(CEP41):c.928A>G (p.Ile310Val)	CEP41 (I310V)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 962478	NM_018718.3(CEP41):c.911C>G (p.Pro304Arg)	CEP41 (P304R)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 1387904	NM_018718.3(CEP41):c.893A>G (p.Asn298Ser)	CEP41 (N298S)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 712715	NM_018718.3(CEP41):c.882A>G (p.Leu294=)	CEP41	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2740806	NM_018718.3(CEP41):c.880del (p.Leu294fs)	CEP41 (L294fs)	Deletion (frameshift variant +2 more)	Joubert syndrome 15	GPathogenic
Select item 799183	NM_018718.3(CEP41):c.867C>T (p.Pro289=)	CEP41	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 15	GLikely benign
Select item 1878640	NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)	CEP41 (R286*)	Single nucleotide variant (nonsense +2 more)	Joubert syndrome 15 +1 more	GPathogenic/Likely pathogenic
Select item 392987	NM_018718.3(CEP41):c.851G>A (p.Arg284Gln)	CEP41 (R284Q)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15 +1 more	GUncertain significance
Select item 1511028	NM_018718.3(CEP41):c.850C>T (p.Arg284Trp)	CEP41 (R284W)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 2194034	NM_018718.3(CEP41):c.831C>G (p.Ala277=)	CEP41	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 15	GLikely benign
Select item 1111689	NM_018718.3(CEP41):c.831C>T (p.Ala277=)	CEP41	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 15	GLikely benign
Select item 1405278	NM_018718.3(CEP41):c.826C>G (p.Gln276Glu)	CEP41 (Q276E)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 1465575	NM_018718.3(CEP41):c.812C>T (p.Pro271Leu)	CEP41 (P271L)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 1449089	NM_018718.3(CEP41):c.800C>T (p.Thr267Ile)	CEP41 (T267I)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 1501523	NM_018718.3(CEP41):c.798T>G (p.Ile266Met)	CEP41 (I266M)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 261056	NM_018718.3(CEP41):c.786G>A (p.Pro262=)	CEP41	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 15 +2 more	GConflicting classifications of pathogenicity
Select item 847423	NM_018718.3(CEP41):c.785C>T (p.Pro262Leu)	CEP41 (P262L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1417531	NM_018718.3(CEP41):c.781T>C (p.Phe261Leu)	CEP41 (F261L)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15 +1 more	GUncertain significance
Select item 961340	NM_018718.3(CEP41):c.773C>T (p.Ala258Val)	CEP41 (A258V)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15 +1 more	GUncertain significance
Select item 1469817	NM_018718.3(CEP41):c.769T>G (p.Leu257Val)	CEP41 (L257V)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 1170899	NM_018718.3(CEP41):c.758-14dup	CEP41	Duplication (intron variant)	Joubert syndrome 15	GBenign
Select item 2797736	NM_018718.3(CEP41):c.757+16C>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1528317	NM_018718.3(CEP41):c.757+12G>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 911316	NM_018718.3(CEP41):c.757+11T>C	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GConflicting classifications of pathogenicity
Select item 1373660	NM_018718.3(CEP41):c.757+5G>A	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GUncertain significance
Select item 1958588	NM_018718.3(CEP41):c.757+2T>A	CEP41	Single nucleotide variant (splice donor variant)	Joubert syndrome 15	GLikely pathogenic
Select item 391647	NM_018718.3(CEP41):c.754G>A (p.Gly252Arg)	CEP41 (G252R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1578011	NM_018718.3(CEP41):c.753C>T (p.Ser251=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15 +1 more	GLikely benign
Select item 3010031	NM_018718.3(CEP41):c.741C>A (p.Leu247=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 1106662	NM_018718.3(CEP41):c.741C>T (p.Leu247=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 2198516	NM_018718.3(CEP41):c.738C>T (p.Asn246=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 982144	NM_018718.3(CEP41):c.725G>A (p.Arg242His)	CEP41 (R226H +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1021035	NM_018718.3(CEP41):c.724C>T (p.Arg242Cys)	CEP41 (R226C +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1125014	NM_018718.3(CEP41):c.723G>A (p.Glu241=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 2077915	NM_018718.3(CEP41):c.720C>T (p.Cys240=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 128705	NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)	CEP41 (C240G +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15 +2 more	GBenign/Likely benign
Select item 1471485	NM_018718.3(CEP41):c.717G>T (p.Met239Ile)	CEP41 (M239I +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1041424	NM_018718.3(CEP41):c.716T>C (p.Met239Thr)	CEP41 (M223T +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1124894	NM_018718.3(CEP41):c.705G>A (p.Ala235=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 1106116	NM_018718.3(CEP41):c.705G>T (p.Ala235=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 1493610	NM_018718.3(CEP41):c.703G>A (p.Ala235Thr)	CEP41 (A219T +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1044773	NM_018718.3(CEP41):c.697A>G (p.Ser233Gly)	CEP41 (S217G +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1161198	NM_018718.3(CEP41):c.696C>T (p.Ala232=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 712781	NM_018718.3(CEP41):c.693G>A (p.Leu231=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

<< First< Prev

Page of 3