CEP250-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	LOC130065743, LOC130065744 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	LOC130065861, LOC130065862 +568 more	Copy number loss	See cases	GPathogenic
Select item 152798	GRCh38/hg38 20q11.22(chr20:35285724-35744837)x1	C20orf173, CEP250 +35 more	Copy number loss	See cases	GPathogenic
Select item 1229793	NM_007186.6(CEP250):c.949-200=	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1668500	NM_007186.6(CEP250):c.949-6G>C	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 957952	NM_007186.6(CEP250):c.949-3C>T	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2117910	NM_007186.6(CEP250):c.956A>G (p.Asn319Ser)	CEP250, CEP250-AS1 (N319S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1516010	NM_007186.6(CEP250):c.970A>G (p.Met324Val)	CEP250, CEP250-AS1 (M324V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1949429	NM_007186.6(CEP250):c.977A>C (p.His326Pro)	CEP250, CEP250-AS1 (H326P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1025893	NM_007186.6(CEP250):c.982G>A (p.Ala328Thr)	CEP250, CEP250-AS1 (A328T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1370659	NM_007186.6(CEP250):c.986C>T (p.Ser329Phe)	CEP250, CEP250-AS1 (S329F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1007109	NM_007186.6(CEP250):c.990TAG[1] (p.Ser331del)	CEP250, CEP250-AS1 (S331del)	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1130123	NM_007186.6(CEP250):c.1001C>T (p.Ala334Val)	CEP250, CEP250-AS1 (A334V)	Single nucleotide variant (5 prime UTR variant +1 more)	CEP250-related condition +1 more	GLikely benign
Select item 1624188	NM_007186.6(CEP250):c.1002G>A (p.Ala334=)	CEP250-AS1, CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2038981	NM_007186.6(CEP250):c.1019C>T (p.Ser340Phe)	CEP250, CEP250-AS1 (S340F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1970385	NM_007186.6(CEP250):c.1050+7G>A	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658049	NM_007186.6(CEP250):c.1050+11G>A	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1558135	NM_007186.6(CEP250):c.1050+15C>G	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941934	NM_007186.6(CEP250):c.1050+18G>A	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265178	NM_007186.6(CEP250):c.1051-212T>C	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1939967	NM_007186.6(CEP250):c.1051-20C>G	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1123836	NM_007186.6(CEP250):c.1051-12A>T	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870712	NM_007186.6(CEP250):c.1051-11T>C	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1426872	NM_007186.6(CEP250):c.1051G>A (p.Val351Ile)	CEP250, CEP250-AS1 (V351I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1083480	NM_007186.6(CEP250):c.1062A>G (p.Glu354=)	CEP250, CEP250-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 834385	NM_007186.6(CEP250):c.1066G>T (p.Gly356Trp)	CEP250, CEP250-AS1 (G356W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1956889	NM_007186.6(CEP250):c.1074T>C (p.Asn358=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1008119	NM_007186.6(CEP250):c.1085G>C (p.Gly362Ala)	CEP250, CEP250-AS1 (G362A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1491409	NM_007186.6(CEP250):c.1106T>C (p.Leu369Ser)	CEP250, CEP250-AS1 (L369S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1613289	NM_007186.6(CEP250):c.1111T>C (p.Leu371=)	CEP250, CEP250-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2765565	NM_007186.6(CEP250):c.1112T>A (p.Leu371Ter)	CEP250, CEP250-AS1 (L371*)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 1487331	NM_007186.6(CEP250):c.1115A>C (p.Asp372Ala)	CEP250, CEP250-AS1 (D372A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1431058	NM_007186.6(CEP250):c.1120A>T (p.Ser374Cys)	CEP250, CEP250-AS1 (S374C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2072729	NM_007186.6(CEP250):c.1133A>C (p.Gln378Pro)	CEP250, CEP250-AS1 (Q378P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1522030	NM_007186.6(CEP250):c.1150G>A (p.Ala384Thr)	CEP250, CEP250-AS1 (A384T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1555226	NM_007186.6(CEP250):c.1158G>A (p.Lys386=)	CEP250, CEP250-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1424283	NM_007186.6(CEP250):c.1159G>T (p.Ala387Ser)	CEP250, CEP250-AS1 (A387S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2261232	NM_007186.6(CEP250):c.1165A>G (p.Thr389Ala)	CEP250, CEP250-AS1 (T389A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1534799	NM_007186.6(CEP250):c.1167T>C (p.Thr389=)	CEP250, CEP250-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 946141	NM_007186.6(CEP250):c.1174C>T (p.Arg392Cys)	CEP250, CEP250-AS1 (R392C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1931216	NM_007186.6(CEP250):c.1175G>A (p.Arg392His)	CEP250, CEP250-AS1 (R392H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1385797	NM_007186.6(CEP250):c.1175G>T (p.Arg392Leu)	CEP250, CEP250-AS1 (R392L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1379361	NM_007186.6(CEP250):c.1189C>T (p.Arg397Trp)	CEP250, CEP250-AS1 (R397W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 968418	NM_007186.6(CEP250):c.1190G>A (p.Arg397Gln)	CEP250, CEP250-AS1 (R397Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2135552	NM_007186.6(CEP250):c.1193G>A (p.Arg398Lys)	CEP250, CEP250-AS1 (R398K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 964648	NM_007186.6(CEP250):c.1195C>T (p.Arg399Cys)	CEP250, CEP250-AS1 (R399C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1358201	NM_007186.6(CEP250):c.1196G>A (p.Arg399His)	CEP250, CEP250-AS1 (R399H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1577325	NM_007186.6(CEP250):c.1203T>C (p.Ala401=)	CEP250, CEP250-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2110425	NM_007186.6(CEP250):c.1209+1G>A	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1631865	NM_007186.6(CEP250):c.1210-14C>T	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657673	NM_007186.6(CEP250):c.1210-13T>C	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948501	NM_007186.6(CEP250):c.1210-4A>C	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169903	NM_007186.6(CEP250):c.1210-4A>G	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1394759	NM_007186.6(CEP250):c.1211A>G (p.Asp404Gly)	CEP250, CEP250-AS1 (D404G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1122476	NM_007186.6(CEP250):c.1212C>T (p.Asp404=)	CEP250, CEP250-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 784722	NM_007186.6(CEP250):c.1213C>T (p.Leu405=)	CEP250, CEP250-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1391338	NM_007186.6(CEP250):c.1235del (p.Cys412fs)	CEP250, CEP250-AS1 (C412fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1945943	NM_007186.6(CEP250):c.1242G>A (p.Glu414=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 969957	NM_007186.6(CEP250):c.1242G>C (p.Glu414Asp)	CEP250, CEP250-AS1 (E414D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1462215	NM_007186.6(CEP250):c.1243G>T (p.Ala415Ser)	CEP250, CEP250-AS1 (A415S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1047619	NM_007186.6(CEP250):c.1243G>A (p.Ala415Thr)	CEP250-AS1, CEP250 (A415T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1518034	NM_007186.6(CEP250):c.1256T>G (p.Leu419Trp)	CEP250, CEP250-AS1 (L419W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1544331	NM_007186.6(CEP250):c.1257G>A (p.Leu419=)	CEP250, CEP250-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1078773	NM_007186.6(CEP250):c.1296C>T (p.Ala432=)	CEP250, CEP250-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 956785	NM_007186.6(CEP250):c.1301G>C (p.Arg434Thr)	CEP250, CEP250-AS1 (R434T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1670890	NM_007186.6(CEP250):c.1302A>G (p.Arg434=)	CEP250, CEP250-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1476041	NM_007186.6(CEP250):c.1306C>T (p.Arg436Trp)	CEP250, CEP250-AS1 (R436W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2186325	NM_007186.6(CEP250):c.1307G>A (p.Arg436Gln)	CEP250, CEP250-AS1 (R436Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 953842	NM_007186.6(CEP250):c.1315A>C (p.Lys439Gln)	CEP250, CEP250-AS1 (K439Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1956339	NM_007186.6(CEP250):c.1320C>T (p.Leu440=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2000505	NM_007186.6(CEP250):c.1329G>A (p.Glu443=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1392483	NM_007186.6(CEP250):c.1330C>T (p.Arg444Trp)	CEP250, CEP250-AS1 (R444W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1420519	NM_007186.6(CEP250):c.1331G>A (p.Arg444Gln)	CEP250, CEP250-AS1 (R444Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2043492	NM_007186.6(CEP250):c.1342G>A (p.Ala448Thr)	CEP250-AS1, CEP250 (A448T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1960536	NM_007186.6(CEP250):c.1344A>T (p.Ala448=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1042340	NM_007186.6(CEP250):c.1351A>G (p.Thr451Ala)	CEP250-AS1, CEP250 (T451A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 955058	NM_007186.6(CEP250):c.1354G>A (p.Val452Met)	CEP250-AS1, CEP250 (V452M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3046715	NM_007186.6(CEP250):c.1371G>A (p.Glu457=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	CEP250-related condition	GLikely benign
Select item 793504	NM_007186.6(CEP250):c.1380T>C (p.Ser460=)	CEP250, CEP250-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2269957	NM_007186.6(CEP250):c.1381C>T (p.Leu461Phe)	CEP250, CEP250-AS1 (L461F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1154862	NM_007186.6(CEP250):c.1383C>G (p.Leu461=)	CEP250-AS1, CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1389631	NM_007186.6(CEP250):c.1388+6C>T	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1574775	NM_007186.6(CEP250):c.1388+7A>G	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1087919	NM_007186.6(CEP250):c.1388+10C>T	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755191	NM_007186.6(CEP250):c.1388+16G>C	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1280671	NM_007186.6(CEP250):c.1389-117=	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1409563	NM_007186.6(CEP250):c.1389-7C>A	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1063211	NM_007186.6(CEP250):c.1389G>A (p.Lys463=)	CEP250, CEP250-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2023006	NM_007186.6(CEP250):c.1392G>A (p.Glu464=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1353223	NM_007186.6(CEP250):c.1394G>T (p.Arg465Leu)	CEP250, CEP250-AS1 (R465L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1041633	NM_007186.6(CEP250):c.1412C>G (p.Ala471Gly)	CEP250, CEP250-AS1 (A471G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1090242	NM_007186.6(CEP250):c.1416G>A (p.Arg472=)	CEP250, CEP250-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1947872	NM_007186.6(CEP250):c.1423C>T (p.Leu475=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1924247	NM_007186.6(CEP250):c.1427G>A (p.Arg476Gln)	CEP250, CEP250-AS1 (R476Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1602088	NM_007186.6(CEP250):c.1428G>T (p.Arg476=)	CEP250, CEP250-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1910454	NM_007186.6(CEP250):c.1437G>A (p.Leu479=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 853664	NM_007186.6(CEP250):c.1441G>A (p.Val481Met)	CEP250-AS1, CEP250 (V481M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

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