C2745997[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 213

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 950480	NM_001384732.1(CPLANE1):c.9700A>T (p.Met3234Leu)	CPLANE1 (M3180L +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 1407919	NM_001384732.1(CPLANE1):c.9694G>A (p.Glu3232Lys)	CPLANE1 (E3178K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 470168	NM_001384732.1(CPLANE1):c.9579+7A>G	CPLANE1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 353414	NM_001384732.1(CPLANE1):c.9574C>G (p.Leu3192Val)	CPLANE1 (L3138V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 158061	NM_001384732.1(CPLANE1):c.9524C>T (p.Thr3175Met)	CPLANE1 (T3121M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1370243	NM_001384732.1(CPLANE1):c.9371C>T (p.Ala3124Val)	CPLANE1 (A3124V +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1413053	NM_001384732.1(CPLANE1):c.9307C>T (p.His3103Tyr)	CPLANE1 (H3049Y +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1485587	NM_001384732.1(CPLANE1):c.9227G>A (p.Gly3076Glu)	CPLANE1 (G3022E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 217569	NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter)	CPLANE1 (R3020* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome and related disorders +5 more	GPathogenic/Likely pathogenic
Select item 1443333	NM_001384732.1(CPLANE1):c.9146C>T (p.Thr3049Ile)	CPLANE1 (T2995I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 158059	NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=)	CPLANE1	Single nucleotide variant (synonymous variant)	Joubert syndrome 17 +3 more	GBenign
Select item 689747	NM_001384732.1(CPLANE1):c.9044G>A (p.Arg3015His)	CPLANE1 (R2961H +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 1371913	NM_001384732.1(CPLANE1):c.9038A>G (p.Tyr3013Cys)	CPLANE1 (Y2959C +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 906758	NM_001384732.1(CPLANE1):c.9031G>A (p.Glu3011Lys)	CPLANE1 (E2957K +1 more)	Single nucleotide variant (missense variant)	CPLANE1-related condition +3 more	GUncertain significance
Select item 217564	NM_001384732.1(CPLANE1):c.9017+1G>A	CPLANE1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 353418	NM_001384732.1(CPLANE1):c.9016A>G (p.Arg3006Gly)	CPLANE1 (R2952G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 537711	NM_001384732.1(CPLANE1):c.8947A>T (p.Arg2983Ter)	CPLANE1 (R2929* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 17 +1 more	GPathogenic
Select item 1443342	NM_001384732.1(CPLANE1):c.8930A>G (p.His2977Arg)	CPLANE1 (H2923R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 649563	NM_001384732.1(CPLANE1):c.8894A>G (p.Tyr2965Cys)	CPLANE1 (Y2911C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 217571	NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)	CPLANE1 (R2904* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 17 +2 more	GPathogenic
Select item 353419	NM_001384732.1(CPLANE1):c.8830G>C (p.Asp2944His)	CPLANE1 (D2890H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1063002	NM_001384732.1(CPLANE1):c.8828C>T (p.Thr2943Ile)	CPLANE1 (T2889I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 158058	NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=)	CPLANE1	Single nucleotide variant (synonymous variant)	Joubert syndrome 17 +3 more	GBenign
Select item 1509809	NM_001384732.1(CPLANE1):c.8747C>G (p.Ser2916Cys)	CPLANE1 (S2862C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 261678	NM_001384732.1(CPLANE1):c.8739C>T (p.Asp2913=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1114774	NM_001384732.1(CPLANE1):c.8679G>A (p.Pro2893=)	CPLANE1	Single nucleotide variant (synonymous variant)	CPLANE1-related condition +3 more	GLikely benign
Select item 353421	NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu)	CPLANE1 (P2839L +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +4 more	GConflicting classifications of pathogenicity
Select item 1415649	NM_001384732.1(CPLANE1):c.8664-19A>G	CPLANE1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 957534	NM_001384732.1(CPLANE1):c.8594G>A (p.Ser2865Asn)	CPLANE1 (S2811N +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 707491	NM_001384732.1(CPLANE1):c.8568G>C (p.Val2856=)	CPLANE1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome type 6 +2 more	GBenign/Likely benign
Select item 904434	NM_001384732.1(CPLANE1):c.8474C>T (p.Thr2825Ile)	CPLANE1 (T2771I +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 197492	NM_001384732.1(CPLANE1):c.8462-1G>C	CPLANE1	Single nucleotide variant (splice acceptor variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1436916	NM_001384732.1(CPLANE1):c.8462-6G>C	CPLANE1	Single nucleotide variant (intron variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 1625903	NM_001384732.1(CPLANE1):c.8461+19G>A	CPLANE1	Single nucleotide variant (intron variant)	Joubert syndrome 17 +2 more	GLikely benign
Select item 1383261	NM_001384732.1(CPLANE1):c.8432C>T (p.Ala2811Val)	CPLANE1 (A2757V +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 217565	NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs)	CPLANE1 (T2755fs +1 more)	Insertion (frameshift variant)	Orofaciodigital syndrome type 6 +3 more	GPathogenic
Select item 1584414	NM_001384732.1(CPLANE1):c.8374-13G>T	CPLANE1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 261677	NM_001384732.1(CPLANE1):c.8374-15G>A	CPLANE1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 158055	NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr)	CPLANE1 (P2728T +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +3 more	GBenign/Likely benign
Select item 591878	NM_001384732.1(CPLANE1):c.8326_8328delinsTTT (p.Glu2776Phe)	CPLANE1 (E2722F +1 more)	Indel (missense variant)	Joubert syndrome 17 +3 more	GUncertain significance
Select item 353426	NM_001384732.1(CPLANE1):c.8197C>T (p.Arg2733Trp)	CPLANE1 (R2679W +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 217566	NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter)	CPLANE1 (R2660* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 515072	NM_001384732.1(CPLANE1):c.8120-6A>G	CPLANE1	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 1665058	NM_001384732.1(CPLANE1):c.8011+12del	CPLANE1	Deletion (intron variant)	Joubert syndrome 17 +2 more	GLikely benign
Select item 353427	NM_001384732.1(CPLANE1):c.7984G>C (p.Val2662Leu)	CPLANE1 (V2644L +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 1390872	NM_001384732.1(CPLANE1):c.7972G>A (p.Val2658Ile)	CPLANE1 (V2640I +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 1523867	NM_001384732.1(CPLANE1):c.7958A>G (p.Tyr2653Cys)	CPLANE1 (Y2653C +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 1505207	NM_001384732.1(CPLANE1):c.7940C>T (p.Ser2647Leu)	CPLANE1 (S2629L +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 217575	NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)	CPLANE1 (L2606* +1 more)	Single nucleotide variant (nonsense)	Orofaciodigital syndrome type 6 +4 more	GPathogenic
Select item 1366170	NM_001384732.1(CPLANE1):c.7789A>G (p.Ile2597Val)	CPLANE1 (I2597V)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1504502	NM_001384732.1(CPLANE1):c.7736A>G (p.Tyr2579Cys)	CPLANE1 (Y2579C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1541449	NM_001384732.1(CPLANE1):c.7641A>G (p.Val2547=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 376868	NM_001384732.1(CPLANE1):c.7616C>T (p.Ala2539Val)	CPLANE1 (A2539V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1550461	NM_001384732.1(CPLANE1):c.7589-12A>C	CPLANE1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 582245	NM_001384732.1(CPLANE1):c.7588+7A>G	CPLANE1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome type 6 +2 more	GConflicting classifications of pathogenicity
Select item 1157482	NM_001384732.1(CPLANE1):c.7578C>T (p.Asp2526=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1424453	NM_001384732.1(CPLANE1):c.7576G>A (p.Asp2526Asn)	CPLANE1 (D2526N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1492633	NM_001384732.1(CPLANE1):c.7562C>G (p.Pro2521Arg)	CPLANE1 (P2521R)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1433022	NM_001384732.1(CPLANE1):c.7534-4_7534-3del	CPLANE1	Deletion (intron variant)	not provided +2 more	GUncertain significance
Select item 31223	NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)	CPLANE1 (R2493*)	Single nucleotide variant (nonsense)	Orofaciodigital syndrome type 6 +2 more	GPathogenic
Select item 1606524	NM_001384732.1(CPLANE1):c.7401-14A>G	CPLANE1	Single nucleotide variant (intron variant)	Joubert syndrome 17 +2 more	GLikely benign
Select item 736213	NM_001384732.1(CPLANE1):c.7296A>G (p.Lys2432=)	CPLANE1	Single nucleotide variant (synonymous variant)	Joubert syndrome 17 +2 more	GLikely benign
Select item 261675	NM_001384732.1(CPLANE1):c.7275G>A (p.Ala2425=)	CPLANE1	Single nucleotide variant (synonymous variant)	CPLANE1-related condition +3 more	GLikely benign
Select item 1392536	NM_001384732.1(CPLANE1):c.7154C>T (p.Thr2385Ile)	CPLANE1 (T2385I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 385840	NM_001384732.1(CPLANE1):c.7080G>A (p.Pro2360=)	CPLANE1	Single nucleotide variant (synonymous variant)	Joubert syndrome 17 +3 more	GLikely benign
Select item 1418441	NM_001384732.1(CPLANE1):c.7079C>T (p.Pro2360Leu)	CPLANE1 (P2360L)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1456393	NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs)	CPLANE1 (K2345fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 940125	NM_001384732.1(CPLANE1):c.6815C>T (p.Pro2272Leu)	CPLANE1 (P2272L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1400380	NM_001384732.1(CPLANE1):c.6734G>T (p.Ser2245Ile)	CPLANE1 (S2245I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1393493	NM_001384732.1(CPLANE1):c.6724C>A (p.His2242Asn)	CPLANE1 (H2242N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1417103	NM_001384732.1(CPLANE1):c.6668A>T (p.Asp2223Val)	CPLANE1 (D2223V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1364578	NM_001384732.1(CPLANE1):c.6647C>G (p.Ala2216Gly)	CPLANE1 (A2216G)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1522454	NM_001384732.1(CPLANE1):c.6644A>G (p.His2215Arg)	CPLANE1 (H2215R)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1414919	NM_001384732.1(CPLANE1):c.6595C>T (p.Leu2199Phe)	CPLANE1 (L2199F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1514939	NM_001384732.1(CPLANE1):c.6538C>G (p.Gln2180Glu)	CPLANE1 (Q2180E)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1427851	NM_001384732.1(CPLANE1):c.6511C>T (p.Arg2171Trp)	CPLANE1 (R2171W)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 1369735	NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs)	CPLANE1 (S2160fs)	Deletion (frameshift variant)	Orofaciodigital syndrome type 6 +2 more	GPathogenic/Likely pathogenic
Select item 1533962	NM_001384732.1(CPLANE1):c.6463-17T>C	CPLANE1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome type 6 +2 more	GLikely benign
Select item 1391182	NM_001384732.1(CPLANE1):c.6456C>A (p.Asn2152Lys)	CPLANE1 (N2152K)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 353443	NM_001384732.1(CPLANE1):c.6443A>G (p.Asn2148Ser)	CPLANE1 (N2148S)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GBenign/Likely benign
Select item 1041930	NM_001384732.1(CPLANE1):c.6398A>C (p.Lys2133Thr)	CPLANE1 (K2133T)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1022632	NM_001384732.1(CPLANE1):c.6309T>G (p.Cys2103Trp)	CPLANE1 (C2103W)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1002773	NM_001384732.1(CPLANE1):c.6302G>T (p.Arg2101Ile)	CPLANE1 (R2101I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1359876	NM_001384732.1(CPLANE1):c.6186C>A (p.Asn2062Lys)	CPLANE1 (N2062K)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 392966	NM_001384732.1(CPLANE1):c.6158T>A (p.Phe2053Tyr)	CPLANE1 (F2053Y)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 1524854	NM_001384732.1(CPLANE1):c.6130G>A (p.Val2044Ile)	CPLANE1 (V2044I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1420528	NM_001384732.1(CPLANE1):c.6057A>G (p.Gln2019=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance
Select item 1648960	NM_001384732.1(CPLANE1):c.6027G>T (p.Leu2009=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1422289	NM_001384732.1(CPLANE1):c.5978+4A>G	CPLANE1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1052365	NM_001384732.1(CPLANE1):c.5960C>T (p.Thr1987Met)	CPLANE1 (T1987M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 689748	NM_001384732.1(CPLANE1):c.5876A>G (p.Glu1959Gly)	CPLANE1 (E1959G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1401313	NM_001384732.1(CPLANE1):c.5863G>C (p.Glu1955Gln)	CPLANE1 (E1955Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 753089	NM_001384732.1(CPLANE1):c.5820+8A>G	CPLANE1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome type 6 +2 more	GLikely benign
Select item 772276	NM_001384732.1(CPLANE1):c.5820+7C>T	CPLANE1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1553914	NM_001384732.1(CPLANE1):c.5738-5G>A	CPLANE1	Single nucleotide variant (intron variant)	Joubert syndrome 17 +2 more	GLikely benign
Select item 1446153	NM_001384732.1(CPLANE1):c.5737+15A>G	CPLANE1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1381743	NM_001384732.1(CPLANE1):c.5729A>C (p.Asp1910Ala)	CPLANE1 (D1910A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 387706	NM_001384732.1(CPLANE1):c.5651A>C (p.Lys1884Thr)	CPLANE1 (K1884T)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 838000	NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter)	CPLANE1 (Q1853*)	Single nucleotide variant (nonsense)	Orofaciodigital syndrome type 6 +2 more	GPathogenic
Select item 158042	NM_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala)	CPLANE1 (T1838A)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +3 more	GBenign/Likely benign

<< First< Prev

Page of 3