ClinVar for MedGen (Select 766178) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024478	NM_001384732.1(CPLANE1):c.6519_6520del (p.Gly2174fs)	CPLANE1 (G2174fs)	Deletion (frameshift variant)	Joubert syndrome 17	GPathogenic
Select item 2691870	NM_001384732.1(CPLANE1):c.8980del (p.Glu2993_Ile2994insTer)	CPLANE1	Deletion (nonsense)	Joubert syndrome 17	GPathogenic
Select item 2498122	NM_001384732.1(CPLANE1):c.[2854_2855insCT;3599C>T]	CPLANE1 (A1200V +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 17	GLikely pathogenic
Select item 2498121	NM_001384732.1(CPLANE1):c.2854_2855insCT (p.Asn952fs)	CPLANE1 (N952fs)	Insertion (frameshift variant)	Joubert syndrome 17	GLikely pathogenic
Select item 2446729	NM_001384732.1(CPLANE1):c.6114del (p.Asp2039fs)	CPLANE1 (D2039fs)	Deletion (frameshift variant)	Joubert syndrome 17	GLikely pathogenic
Select item 2431894	NM_001384732.1(CPLANE1):c.2949A>G (p.Gln983=)	CPLANE1	Single nucleotide variant (synonymous variant)	Joubert syndrome 17	GUncertain significance
Select item 2429734	NM_001384732.1(CPLANE1):c.4080G>A (p.Lys1360=)	CPLANE1	Single nucleotide variant (synonymous variant)	Joubert syndrome 17	GUncertain significance
Select item 2429465	NM_001384732.1(CPLANE1):c.4189+1G>A	CPLANE1	Single nucleotide variant (splice donor variant)	Joubert syndrome 17	GUncertain significance
Select item 2429464	NM_001384732.1(CPLANE1):c.3101T>C (p.Ile1034Thr)	CPLANE1 (I1034T)	Single nucleotide variant (missense variant)	Joubert syndrome 17	GUncertain significance
Select item 2429463	NM_001384732.1(CPLANE1):c.7243dup (p.Thr2415fs)	CPLANE1 (T2415fs)	Duplication (frameshift variant)	CPLANE1-related condition	GPathogenic
Select item 2429462	NM_001384732.1(CPLANE1):c.3733T>C (p.Cys1245Arg)	CPLANE1 (C1245R)	Single nucleotide variant (missense variant)	Joubert syndrome 17	GUncertain significance
Select item 1805055	NM_001384732.1(CPLANE1):c.7378C>T (p.Gln2460Ter)	CPLANE1 (Q2460*)	Single nucleotide variant (nonsense)	Joubert syndrome 17	GPathogenic
Select item 1801337	NM_001384732.1(CPLANE1):c.6462G>A (p.Gln2154=)	CPLANE1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome type 6 +1 more	GUncertain significance
Select item 1723410	NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)	CPLANE1 (W1020fs)	Microsatellite (frameshift variant)	Joubert syndrome and related disorders +1 more	GPathogenic/Likely pathogenic
Select item 1665058	NM_001384732.1(CPLANE1):c.8011+12del	CPLANE1	Deletion (intron variant)	Joubert syndrome 17 +2 more	GLikely benign
Select item 1656824	NM_001384732.1(CPLANE1):c.3150-12A>G	CPLANE1	Single nucleotide variant (intron variant)	Joubert syndrome 17 +2 more	GLikely benign
Select item 1653987	NM_001384732.1(CPLANE1):c.5195A>G (p.Asp1732Gly)	CPLANE1 (D1732G)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GBenign/Likely benign
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 1648294	NM_001384732.1(CPLANE1):c.1121+7C>T	CPLANE1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome type 6 +2 more	GLikely benign
Select item 1628385	NM_001384732.1(CPLANE1):c.93C>T (p.Ala31=)	CPLANE1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome type 6 +2 more	GLikely benign
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 1619935	NM_001384732.1(CPLANE1):c.938+20T>C	CPLANE1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome type 6 +2 more	GLikely benign
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 1601863	NM_001384732.1(CPLANE1):c.834+15G>A	CPLANE1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome type 6 +2 more	GLikely benign
Select item 1597603	NM_001384732.1(CPLANE1):c.3474A>G (p.Pro1158=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1595871	NM_001384732.1(CPLANE1):c.3508-19A>G	CPLANE1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome type 6 +2 more	GLikely benign
Select item 1593994	NM_001384732.1(CPLANE1):c.1522-16dup	CPLANE1	Duplication (intron variant)	Orofaciodigital syndrome type 6 +2 more	GBenign/Likely benign
Select item 1584768	NM_001384732.1(CPLANE1):c.570+12C>T	CPLANE1	Single nucleotide variant (intron variant)	Joubert syndrome 17 +2 more	GLikely benign
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 1577489	NM_001384732.1(CPLANE1):c.1623A>G (p.Glu541=)	CPLANE1	Single nucleotide variant (synonymous variant)	Joubert syndrome 17 +2 more	GLikely 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 1550461	NM_001384732.1(CPLANE1):c.7589-12A>C	CPLANE1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1544601	NM_001384732.1(CPLANE1):c.3673-8_3673-4del	CPLANE1	Deletion (intron variant)	Joubert syndrome 17 +2 more	GLikely benign
Select item 1543149	NM_001384732.1(CPLANE1):c.3897A>G (p.Ala1299=)	CPLANE1	Single nucleotide variant (synonymous variant)	Joubert syndrome 17 +2 more	GLikely benign
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 1539943	NM_001384732.1(CPLANE1):c.2208T>C (p.Ser736=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1536456	NM_001384732.1(CPLANE1):c.2746+16dup	CPLANE1	Duplication (intron variant)	Joubert syndrome 17 +2 more	GBenign/Likely benign
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 1531870	NM_001384732.1(CPLANE1):c.2746+15_2746+16del	CPLANE1	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1527892	NM_001384732.1(CPLANE1):c.4241T>C (p.Val1414Ala)	CPLANE1 (V1414A)	Single nucleotide variant (missense variant)	Joubert syndrome 17	GUncertain significance
Select item 1527891	NM_001384732.1(CPLANE1):c.1817T>G (p.Phe606Cys)	CPLANE1 (F606C)	Single nucleotide variant (missense variant)	Joubert syndrome 17	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 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 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 1522314	NM_001384732.1(CPLANE1):c.5203T>G (p.Leu1735Val)	CPLANE1 (L1735V)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +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 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 1509176	NM_001384732.1(CPLANE1):c.4219G>T (p.Val1407Phe)	CPLANE1 (V1407F)	Single nucleotide variant (missense variant)	not provided +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 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 1492685	NM_001384732.1(CPLANE1):c.202A>G (p.Thr68Ala)	CPLANE1 (T68A)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +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 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 1472306	NM_001384732.1(CPLANE1):c.5051C>T (p.Ser1684Leu)	CPLANE1 (S1684L)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 1460716	NM_001384732.1(CPLANE1):c.338C>A (p.Ala113Glu)	CPLANE1 (A113E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1456531	NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs)	CPLANE1 (L1386fs)	Duplication (frameshift variant)	Joubert syndrome 17 +1 more	GPathogenic/Likely pathogenic
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 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 1445203	NM_001384732.1(CPLANE1):c.3839G>A (p.Cys1280Tyr)	CPLANE1 (C1280Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1444860	NM_001384732.1(CPLANE1):c.5255G>A (p.Arg1752Lys)	CPLANE1 (R1752K)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1444464	NM_001384732.1(CPLANE1):c.1823T>G (p.Ile608Ser)	CPLANE1 (I608S)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
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 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 1441617	NM_001384732.1(CPLANE1):c.3415G>C (p.Asp1139His)	CPLANE1 (D1139H)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1439519	NM_001384732.1(CPLANE1):c.4055T>C (p.Ile1352Thr)	CPLANE1 (I1352T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1438968	NM_001384732.1(CPLANE1):c.1487A>G (p.Glu496Gly)	CPLANE1 (E496G)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
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 1436091	NM_001384732.1(CPLANE1):c.3245T>C (p.Leu1082Ser)	CPLANE1 (L1082S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1435735	NM_001384732.1(CPLANE1):c.3364G>A (p.Asp1122Asn)	CPLANE1 (D1122N)	Single nucleotide variant (missense variant)	not provided +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 1429610	NM_001384732.1(CPLANE1):c.5141C>T (p.Thr1714Ile)	CPLANE1 (T1714I)	Single nucleotide variant (missense variant)	not provided +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 1427620	NM_001384732.1(CPLANE1):c.1303A>G (p.Met435Val)	CPLANE1 (M435V)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1427579	NM_001384732.1(CPLANE1):c.4156C>T (p.Leu1386Phe)	CPLANE1 (L1386F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1427370	NM_001384732.1(CPLANE1):c.364G>A (p.Val122Ile)	CPLANE1 (V122I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1426294	NM_001384732.1(CPLANE1):c.4678T>C (p.Tyr1560His)	CPLANE1 (Y1560H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1425166	NM_001384732.1(CPLANE1):c.2082G>A (p.Met694Ile)	CPLANE1 (M694I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 1423771	NM_001384732.1(CPLANE1):c.3379T>G (p.Ser1127Ala)	CPLANE1 (S1127A)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
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 1422125	NM_001384732.1(CPLANE1):c.1645A>G (p.Met549Val)	CPLANE1 (M549V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1420567	NM_001384732.1(CPLANE1):c.1472A>T (p.Lys491Ile)	CPLANE1 (K491I)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +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 1420506	NM_001384732.1(CPLANE1):c.2663A>G (p.Asp888Gly)	CPLANE1 (D888G)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 1419897	NM_001384732.1(CPLANE1):c.1958A>G (p.Tyr653Cys)	CPLANE1 (Y653C)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1418738	NM_001384732.1(CPLANE1):c.2354G>A (p.Arg785Gln)	CPLANE1 (R785Q)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
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 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 1416162	NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu)	CPLANE1 (A1200E)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GPathogenic/Likely pathogenic
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 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 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 1410818	NM_001384732.1(CPLANE1):c.5066A>G (p.Gln1689Arg)	CPLANE1 (Q1689R)	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 1406337	NM_001384732.1(CPLANE1):c.212G>A (p.Ser71Asn)	CPLANE1 (S71N)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1404048	NM_001384732.1(CPLANE1):c.3557A>G (p.Lys1186Arg)	CPLANE1 (K1186R)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 1402847	NM_001384732.1(CPLANE1):c.5114T>C (p.Ile1705Thr)	CPLANE1 (I1705T)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +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 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 1398940	NM_001384732.1(CPLANE1):c.1969G>A (p.Val657Met)	CPLANE1 (V657M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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