Related gene-specific medical variations for Gene (Select 102725201) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3142776	NM_007186.6(CEP250):c.1883C>A (p.Ser628Tyr)	CEP250, CEP250-AS1 (S628Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3142775	NM_007186.6(CEP250):c.1619G>A (p.Ser540Asn)	CEP250, CEP250-AS1 (S540N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3142774	NM_007186.6(CEP250):c.1355T>G (p.Val452Gly)	CEP250, CEP250-AS1 (V452G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3142773	NM_007186.6(CEP250):c.1294G>A (p.Ala432Thr)	CEP250, CEP250-AS1 (A432T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3142772	NM_007186.6(CEP250):c.1285G>A (p.Glu429Lys)	CEP250, CEP250-AS1 (E429K)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3055027	NM_007186.6(CEP250):c.1470A>C (p.Arg490=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	CEP250-related condition	GLikely benign
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 2987709	NM_007186.6(CEP250):c.2200del (p.Ala733_Leu734insTer)	CEP250, CEP250-AS1	Deletion (nonsense)	not provided	GPathogenic
Select item 2985519	NM_007186.6(CEP250):c.2647del (p.Glu883fs)	CEP250, CEP250-AS1 (E251fs +1 more)	Deletion (frameshift variant)	CEP250-related condition +1 more	GPathogenic/Likely pathogenic
Select item 2985509	NM_007186.6(CEP250):c.2241C>T (p.Ala747=)	CEP250, CEP250-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967370	NM_007186.6(CEP250):c.2095-16A>G	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2896468	NM_007186.6(CEP250):c.1842G>T (p.Gly614=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2873843	NM_007186.6(CEP250):c.1571+18C>T	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	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 2863608	NM_007186.6(CEP250):c.2433G>A (p.Leu811=)	CEP250, CEP250-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854722	NM_007186.6(CEP250):c.2609A>G (p.Gln870Arg)	CEP250, CEP250-AS1 (Q870R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843040	NM_007186.6(CEP250):c.2644A>C (p.Arg882=)	CEP250, CEP250-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824355	NM_007186.6(CEP250):c.2754+18T>C	CEP250, CEP250-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812342	NM_007186.6(CEP250):c.2288+2T>C	CEP250, CEP250-AS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2808851	NM_007186.6(CEP250):c.1818G>A (p.Glu606=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2785648	NM_007186.6(CEP250):c.1470A>T (p.Arg490=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 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 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 2712490	NM_007186.6(CEP250):c.1567C>T (p.Arg523Cys)	CEP250-AS1, CEP250 (R523C)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 2652282	NM_007186.6(CEP250):c.1935C>A (p.Val645=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2652281	NM_007186.6(CEP250):c.1710G>T (p.Leu570=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2416073	NM_007186.6(CEP250):c.2659C>T (p.Leu887=)	CEP250, CEP250-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2380815	NM_007186.6(CEP250):c.1702G>A (p.Ala568Thr)	CEP250, CEP250-AS1 (A568T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2305433	NM_007186.6(CEP250):c.2095T>A (p.Ser699Thr)	CEP250, CEP250-AS1 (S699T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302864	NM_007186.6(CEP250):c.2687C>A (p.Thr896Lys)	CEP250, CEP250-AS1 (T264K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 2268318	NM_007186.6(CEP250):c.1562G>A (p.Arg521Lys)	CEP250, CEP250-AS1 (R521K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2196527	NM_007186.6(CEP250):c.2421A>G (p.Glu807=)	CEP250, CEP250-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2166300	NM_007186.6(CEP250):c.1863+3G>T	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2131156	NM_007186.6(CEP250):c.2239G>T (p.Ala747Ser)	CEP250, CEP250-AS1 (A115S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129816	NM_007186.6(CEP250):c.2654T>C (p.Met885Thr)	CEP250, CEP250-AS1 (M885T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123248	NM_007186.6(CEP250):c.1863+18T>C	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2121461	NM_007186.6(CEP250):c.2283G>A (p.Gly761=)	CEP250, CEP250-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2112502	NM_007186.6(CEP250):c.1993G>A (p.Glu665Lys)	CEP250, CEP250-AS1 (E33K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2109215	NM_007186.6(CEP250):c.2736A>G (p.Ala912=)	CEP250, CEP250-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2100313	NM_007186.6(CEP250):c.1957A>T (p.Arg653Trp)	CEP250, CEP250-AS1 (R653W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099396	NM_007186.6(CEP250):c.2113G>T (p.Ala705Ser)	CEP250, CEP250-AS1 (A705S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097828	NM_007186.6(CEP250):c.1458A>G (p.Ala486=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2095441	NM_007186.6(CEP250):c.2423T>C (p.Val808Ala)	CEP250, CEP250-AS1 (V176A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093417	NM_007186.6(CEP250):c.2754G>A (p.Gln918=)	CEP250, CEP250-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2093347	NM_007186.6(CEP250):c.1717-12T>G	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2088389	NM_007186.6(CEP250):c.1501G>C (p.Asp501His)	CEP250, CEP250-AS1 (D501H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2083651	NM_007186.6(CEP250):c.2098C>T (p.Arg700Cys)	CEP250, CEP250-AS1 (R68C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076611	NM_007186.6(CEP250):c.2587-14C>T	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2063602	NM_007186.6(CEP250):c.2118C>T (p.Ala706=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2058402	NM_007186.6(CEP250):c.1841G>T (p.Gly614Val)	CEP250, CEP250-AS1 (G614V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2056800	NM_007186.6(CEP250):c.2564dup (p.Asn856fs)	CEP250, CEP250-AS1 (N224fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2046471	NM_007186.6(CEP250):c.1887G>T (p.Val629=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
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 2040068	NM_007186.6(CEP250):c.2055C>G (p.Ile685Met)	CEP250, CEP250-AS1 (I53M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2019766	NM_007186.6(CEP250):c.1467G>A (p.Leu489=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2016247	NM_007186.6(CEP250):c.2094+16G>A	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2016217	NM_007186.6(CEP250):c.2199C>T (p.Ala733=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +1 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 1996853	NM_007186.6(CEP250):c.2347A>G (p.Ile783Val)	CEP250, CEP250-AS1 (I783V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976468	NM_007186.6(CEP250):c.1818G>C (p.Glu606Asp)	CEP250, CEP250-AS1 (E606D)	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 1967409	NM_007186.6(CEP250):c.2259G>A (p.Gln753=)	CEP250, CEP250-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965916	NM_007186.6(CEP250):c.2751C>T (p.Cys917=)	CEP250, CEP250-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964750	NM_007186.6(CEP250):c.2731C>G (p.Gln911Glu)	CEP250, CEP250-AS1 +1 more (Q279E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963153	NM_007186.6(CEP250):c.1572-17T>G	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960991	NM_007186.6(CEP250):c.1824G>C (p.Leu608Phe)	CEP250, CEP250-AS1 (L608F)	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 1958329	NM_007186.6(CEP250):c.1729A>C (p.Ile577Leu)	CEP250, CEP250-AS1 (I577L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1957618	NM_007186.6(CEP250):c.2680C>G (p.Gln894Glu)	CEP250, CEP250-AS1 (Q262E +1 more)	Single nucleotide variant (missense variant)	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 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 1955332	NM_007186.6(CEP250):c.1571+3_1571+6del	CEP250, CEP250-AS1	Deletion (splice donor variant)	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 1948501	NM_007186.6(CEP250):c.1210-4A>C	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	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 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 1943116	NM_007186.6(CEP250):c.1627A>T (p.Ile543Phe)	CEP250, CEP250-AS1 (I543F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1943091	NM_007186.6(CEP250):c.1585A>G (p.Met529Val)	CEP250, CEP250-AS1 (M529V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 1939976	NM_007186.6(CEP250):c.2288+13C>T	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1925483	NM_007186.6(CEP250):c.2206C>T (p.Arg736Ter)	CEP250, CEP250-AS1 (R736* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1916440	NM_007186.6(CEP250):c.2654_2675del (p.Met885fs)	CEP250, CEP250-AS1 (M885fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1915596	NM_007186.6(CEP250):c.1717-15C>T	CEP250, CEP250-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915595	NM_007186.6(CEP250):c.1717-16_1717-15insA	CEP250, CEP250-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 1914674	NM_007186.6(CEP250):c.1691C>A (p.Thr564Lys)	CEP250, CEP250-AS1 (T564K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1912991	NM_007186.6(CEP250):c.2289-7del	CEP250, CEP250-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1912322	NM_007186.6(CEP250):c.1661T>C (p.Leu554Pro)	CEP250, CEP250-AS1 (L554P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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

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