150468[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1225888	NM_001393655.1(NT5DC4):c.1345-359A>T	CKAP2L, NT5DC4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2200479	NM_152515.5(CKAP2L):c.2198C>T (p.Ala733Val)	CKAP2L, NT5DC4 (A733V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 785850	NM_152515.5(CKAP2L):c.2186G>A (p.Arg729His)	CKAP2L, NT5DC4 (R564H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 775177	NM_152515.5(CKAP2L):c.2185C>T (p.Arg729Cys)	CKAP2L, NT5DC4 (R564C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1310429	NM_152515.5(CKAP2L):c.2173T>A (p.Cys725Ser)	CKAP2L, NT5DC4 (C560S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2268739	NM_152515.5(CKAP2L):c.2119C>A (p.His707Asn)	CKAP2L, NT5DC4 (H542N +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1599891	NM_152515.5(CKAP2L):c.2118A>T (p.Glu706Asp)	CKAP2L, NT5DC4 (E541D +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 3145207	NM_152515.5(CKAP2L):c.2116G>C (p.Glu706Gln)	CKAP2L, NT5DC4 (E541Q +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1480793	NM_152515.5(CKAP2L):c.2111T>C (p.Leu704Pro)	CKAP2L, NT5DC4 (L539P +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3067464	NM_152515.5(CKAP2L):c.2091G>A (p.Val697=)	CKAP2L, NT5DC4	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 790255	NM_152515.5(CKAP2L):c.2084G>A (p.Arg695Gln)	CKAP2L, NT5DC4 (R530Q +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 2204976	NM_152515.5(CKAP2L):c.2072C>T (p.Ser691Leu)	CKAP2L, NT5DC4 (S526L +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2167573	NM_152515.5(CKAP2L):c.2070G>A (p.Ser690=)	CKAP2L, NT5DC4	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1040806	NM_152515.5(CKAP2L):c.2066G>A (p.Arg689His)	CKAP2L, NT5DC4 (R524H +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1404097	NM_152515.5(CKAP2L):c.2063G>A (p.Arg688Gln)	CKAP2L, NT5DC4 (R523Q +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 719773	NM_152515.5(CKAP2L):c.2058T>C (p.Pro686=)	CKAP2L, NT5DC4	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 2527334	NM_152515.5(CKAP2L):c.2053A>G (p.Thr685Ala)	CKAP2L, NT5DC4 (T520A +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2780960	NM_152515.5(CKAP2L):c.2027C>T (p.Pro676Leu)	CKAP2L, NT5DC4 (P676L +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2883006	NM_001393655.1(NT5DC4):c.*119G>T	CKAP2L, NT5DC4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1183724	NM_152515.5(CKAP2L):c.2013-329A>T	CKAP2L, NT5DC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277995	NM_152515.5(CKAP2L):c.2012+58G>A	CKAP2L, NT5DC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2956457	NM_152515.5(CKAP2L):c.2012+12C>T	CKAP2L, NT5DC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1381276	NM_152515.5(CKAP2L):c.2008C>T (p.Pro670Ser)	CKAP2L, NT5DC4 (P505S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2240493	NM_152515.5(CKAP2L):c.1976A>T (p.Tyr659Phe)	CKAP2L, NT5DC4 (Y659F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3145205	NM_152515.5(CKAP2L):c.1943C>T (p.Thr648Ile)	CKAP2L, NT5DC4 (T648I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 736002	NM_152515.5(CKAP2L):c.1941G>A (p.Ala647=)	CKAP2L, NT5DC4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1345378	NM_152515.5(CKAP2L):c.1913C>T (p.Ser638Phe)	CKAP2L, NT5DC4 (S473F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3145204	NM_152515.5(CKAP2L):c.1895C>T (p.Ser632Phe)	CKAP2L, NT5DC4 (S467F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2276777	NM_152515.5(CKAP2L):c.1873G>A (p.Glu625Lys)	CKAP2L, NT5DC4 (E625K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2487798	NM_152515.5(CKAP2L):c.1864T>C (p.Ser622Pro)	CKAP2L, NT5DC4 (S622P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1539908	NM_152515.5(CKAP2L):c.1854T>C (p.Thr618=)	CKAP2L, NT5DC4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1209747	NM_152515.5(CKAP2L):c.1841T>C (p.Leu614Ser)	CKAP2L, NT5DC4 (L449S +1 more)	Single nucleotide variant (missense variant +2 more)	Filippi syndrome +1 more	GBenign
Select item 2334513	NM_152515.5(CKAP2L):c.1840T>G (p.Leu614Val)	CKAP2L, NT5DC4 (L449V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2651285	NM_152515.5(CKAP2L):c.1839T>C (p.Ser613=)	CKAP2L, NT5DC4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3016327	NM_152515.5(CKAP2L):c.1823-8A>C	CKAP2L, NT5DC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239826	NM_152515.5(CKAP2L):c.1823-46A>G	CKAP2L, NT5DC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241295	NM_152515.5(CKAP2L):c.1823-170C>T	CKAP2L, NT5DC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 984719	NM_152515.5(CKAP2L):c.1822+1G>A	CKAP2L, NT5DC4	Single nucleotide variant (3 prime UTR variant +1 more)	Filippi syndrome	GPathogenic
Select item 2220438	NM_152515.5(CKAP2L):c.1797G>T (p.Leu599Phe)	CKAP2L, NT5DC4 (L434F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1617180	NM_152515.5(CKAP2L):c.1785T>C (p.Val595=)	CKAP2L, NT5DC4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3057872	NM_152515.5(CKAP2L):c.1759-14TTCC[4]	CKAP2L, NT5DC4	Microsatellite (3 prime UTR variant +1 more)	CKAP2L-related condition	GLikely benign
Select item 1287835	NM_152515.5(CKAP2L):c.1759-224C>A	CKAP2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225141	NM_152515.5(CKAP2L):c.1759-259T>C	CKAP2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260342	NM_152515.5(CKAP2L):c.1758+319T>C	CKAP2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288028	NM_152515.5(CKAP2L):c.1758+167G>A	CKAP2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1563687	NM_152515.5(CKAP2L):c.1758+18G>T	CKAP2L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2617975	NM_152515.5(CKAP2L):c.1741A>G (p.Ile581Val)	CKAP2L (I416V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1483361	NM_152515.5(CKAP2L):c.1712T>C (p.Phe571Ser)	CKAP2L (F406S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2324774	NM_152515.5(CKAP2L):c.1699A>C (p.Ser567Arg)	CKAP2L (S402R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 764179	NM_152515.5(CKAP2L):c.1665T>C (p.Ala555=)	CKAP2L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 817428	NM_152515.5(CKAP2L):c.1634dup (p.Leu545fs)	CKAP2L (L545fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 451237	NM_152515.5(CKAP2L):c.1621A>G (p.Ile541Val)	CKAP2L (I541V +1 more)	Single nucleotide variant (missense variant +1 more)	Filippi syndrome +1 more	GUncertain significance
Select item 3065887	NM_152515.5(CKAP2L):c.1604G>A (p.Gly535Asp)	CKAP2L (G370D +1 more)	Single nucleotide variant (missense variant +1 more)	Filippi syndrome	GLikely pathogenic
Select item 2099602	NM_152515.5(CKAP2L):c.1603-18T>C	CKAP2L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1607251	NM_152515.5(CKAP2L):c.1603-20G>A	CKAP2L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651240	NM_152515.5(CKAP2L):c.1602+16A>G	CKAP2L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2609431	NM_152515.5(CKAP2L):c.1597G>A (p.Glu533Lys)	CKAP2L (E533K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 741692	NM_152515.5(CKAP2L):c.1585C>T (p.Leu529=)	CKAP2L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1383483	NM_152515.5(CKAP2L):c.1567A>G (p.Asn523Asp)	CKAP2L (N358D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 785006	NM_152515.5(CKAP2L):c.1555A>G (p.Ser519Gly)	CKAP2L (S354G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2288072	NM_152515.5(CKAP2L):c.1550T>C (p.Leu517Pro)	CKAP2L (L352P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 666813	NM_152515.5(CKAP2L):c.1534_1537del (p.Lys512fs)	CKAP2L (K347fs +1 more)	Microsatellite (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2189339	NM_152515.5(CKAP2L):c.1533_1535del (p.Lys512del)	CKAP2L (K347del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1914090	NM_152515.5(CKAP2L):c.1478T>C (p.Ile493Thr)	CKAP2L (I493T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1183968	NM_152515.5(CKAP2L):c.1463_1467del (p.Thr488fs)	CKAP2L (T323fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability +1 more	GLikely pathogenic
Select item 3023963	NM_152515.5(CKAP2L):c.1450A>G (p.Met484Val)	CKAP2L (M319V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1269150	NM_152515.5(CKAP2L):c.1446T>C (p.Pro482=)	CKAP2L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2086373	NM_152515.5(CKAP2L):c.1442G>A (p.Arg481Gln)	CKAP2L (R316Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1349751	NM_152515.5(CKAP2L):c.1438A>G (p.Lys480Glu)	CKAP2L (K315E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 709164	NM_152515.5(CKAP2L):c.1401A>G (p.Gln467=)	CKAP2L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2207070	NM_152515.5(CKAP2L):c.1399C>G (p.Gln467Glu)	CKAP2L (Q302E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1271063	NM_152515.5(CKAP2L):c.1395-182G>A	CKAP2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263457	NM_152515.5(CKAP2L):c.1394+50T>C	CKAP2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 503757	NM_152515.5(CKAP2L):c.1394+3A>G	CKAP2L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1030263	NM_152515.5(CKAP2L):c.1385A>T (p.Glu462Val)	CKAP2L (E297V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2464341	NM_152515.5(CKAP2L):c.1364T>C (p.Ile455Thr)	CKAP2L (I455T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2965061	NM_152515.5(CKAP2L):c.1335C>T (p.Thr445=)	CKAP2L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1310399	NM_152515.5(CKAP2L):c.1333A>G (p.Thr445Ala)	CKAP2L (T280A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2307864	NM_152515.5(CKAP2L):c.1300A>C (p.Lys434Gln)	CKAP2L (K434Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1513182	NM_152515.5(CKAP2L):c.1291T>G (p.Phe431Val)	CKAP2L (F266V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1374346	NM_152515.5(CKAP2L):c.1288C>A (p.His430Asn)	CKAP2L (H430N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440093	NM_152515.5(CKAP2L):c.1283A>G (p.Gln428Arg)	CKAP2L (Q263R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3145203	NM_152515.5(CKAP2L):c.1276G>A (p.Val426Ile)	CKAP2L (V426I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2181882	NM_152515.5(CKAP2L):c.1262A>G (p.Lys421Arg)	CKAP2L (K256R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2302293	NM_152515.5(CKAP2L):c.1255G>T (p.Asp419Tyr)	CKAP2L (D254Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605706	NM_152515.5(CKAP2L):c.1247A>C (p.Gln416Pro)	CKAP2L (Q251P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3050867	NM_152515.5(CKAP2L):c.1210A>G (p.Asn404Asp)	CKAP2L (N239D +1 more)	Single nucleotide variant (missense variant)	CKAP2L-related condition	GBenign
Select item 2544917	NM_152515.5(CKAP2L):c.1195A>G (p.Asn399Asp)	CKAP2L (N234D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184979	NM_152515.5(CKAP2L):c.1186A>G (p.Ile396Val)	CKAP2L (I396V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2400938	NM_152515.5(CKAP2L):c.1181C>G (p.Pro394Arg)	CKAP2L (P229R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1292042	NM_152515.5(CKAP2L):c.1169_1173del (p.Ile390fs)	CKAP2L (I225fs +1 more)	Deletion (frameshift variant)	Filippi syndrome	GPathogenic
Select item 2046532	NM_152515.5(CKAP2L):c.1163C>T (p.Ser388Leu)	CKAP2L (S223L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2966199	NM_152515.5(CKAP2L):c.1157T>A (p.Phe386Tyr)	CKAP2L (F386Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2592985	NM_152515.5(CKAP2L):c.1151G>C (p.Gly384Ala)	CKAP2L (G384A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1634672	NM_152515.5(CKAP2L):c.1134G>A (p.Arg378=)	CKAP2L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1209748	NM_152515.5(CKAP2L):c.1123A>G (p.Ile375Val)	CKAP2L (I210V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2249047	NM_152515.5(CKAP2L):c.1109A>G (p.Gln370Arg)	CKAP2L (Q205R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397539	NM_152515.5(CKAP2L):c.1102G>A (p.Val368Ile)	CKAP2L (V203I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 451430	NM_152515.5(CKAP2L):c.1092_1093del (p.Gln364fs)	CKAP2L (Q364fs +1 more)	Deletion (frameshift variant)	Filippi syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2691463	NM_152515.5(CKAP2L):c.1046_1053dup (p.Lys352fs)	CKAP2L (K187fs +1 more)	Duplication (frameshift variant)	Filippi syndrome	GPathogenic

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