ClinVar for MedGen (Select 393033) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2680666	NM_025114.4(CEP290):c.7157_7158del (p.Lys2386fs)	CEP290 (K2386fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680665	NM_025114.4(CEP290):c.180+1G>T	CEP290	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 14	GPathogenic
Select item 2680664	NM_025114.4(CEP290):c.3606_3615del (p.Lys1202fs)	CEP290 (K1202fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680663	NM_025114.4(CEP290):c.6927del (p.Val2310fs)	CEP290 (V2310fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 2680662	NM_025114.4(CEP290):c.6831del (p.Lys2278fs)	CEP290 (K2278fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680661	NM_025114.4(CEP290):c.2404_2433delinsAC (p.Glu802fs)	CEP290 (E802fs)	Indel (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680660	NM_025114.4(CEP290):c.2355dup (p.His786fs)	CEP290 (H786fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680659	NM_025114.4(CEP290):c.584T>G (p.Leu195Ter)	CEP290 (L195*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680658	NM_025114.4(CEP290):c.5953del (p.Glu1985fs)	CEP290 (E1985fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680657	NM_025114.4(CEP290):c.1657A>T (p.Lys553Ter)	CEP290 (K553*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680656	NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)	CEP290 (E1330* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 2680655	NM_025114.4(CEP290):c.4771del (p.Gln1591fs)	CEP290 (Q1591fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680654	NM_025114.4(CEP290):c.5046del (p.Lys1682_Val1683insTer)	CEP290	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 14	GPathogenic
Select item 2680653	NM_025114.4(CEP290):c.2794dup (p.Ile932fs)	CEP290 (I932fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680652	NM_025114.4(CEP290):c.6928dup (p.Val2310fs)	CEP290 (V2310fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680651	NM_025114.4(CEP290):c.2991+1G>A	CEP290	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680650	NM_025114.4(CEP290):c.1914del (p.Glu639fs)	CEP290 (E639fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680649	NM_025114.4(CEP290):c.4081_4084del (p.Leu1361fs)	CEP290 (L1361fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680648	NM_025114.4(CEP290):c.574_577del (p.Glu192fs)	CEP290 (E192fs)	Microsatellite (frameshift variant)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 2680647	NM_025114.4(CEP290):c.5223_5224del (p.Lys1742fs)	CEP290 (K1742fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680646	NM_025114.4(CEP290):c.1495G>T (p.Glu499Ter)	CEP290 (E499*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680645	NM_025114.4(CEP290):c.3187G>T (p.Glu1063Ter)	CEP290 (E1063* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680644	NM_025114.4(CEP290):c.3799del (p.Ile1267fs)	CEP290 (I1267fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680643	NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)	CEP290 (E1627* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 2680642	NM_025114.4(CEP290):c.6933del (p.Asn2311fs)	CEP290 (N2311fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680641	NM_025114.4(CEP290):c.5855+1G>A	CEP290	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680640	NM_025114.4(CEP290):c.1516del (p.Arg506fs)	CEP290 (R506fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680639	NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)	CEP290 (K857*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +3 more	GPathogenic
Select item 2680638	NM_025114.4(CEP290):c.5012+1G>A	CEP290	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680637	NM_025114.4(CEP290):c.1397_1400del (p.Lys466fs)	CEP290 (K466fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680636	NM_025114.4(CEP290):c.5855+2T>G	CEP290	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680635	NM_025114.4(CEP290):c.3596del (p.Leu1199fs)	CEP290 (L1199fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680634	NM_025114.4(CEP290):c.6270+1G>T	CEP290	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +3 more	GLikely pathogenic
Select item 2680633	NM_025114.4(CEP290):c.2217+2T>G	CEP290	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680632	NM_025114.4(CEP290):c.1909+1G>T	CEP290	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680631	NM_025114.4(CEP290):c.2510del (p.Ser837fs)	CEP290 (S837fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680630	NM_025114.4(CEP290):c.2992-1G>A	CEP290	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680629	NM_025114.4(CEP290):c.7248del (p.Phe2416fs)	CEP290, RLIG1 (F2416fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680628	NM_025114.4(CEP290):c.5242del (p.Leu1748fs)	CEP290 (L1748fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680627	NM_025114.4(CEP290):c.6490del (p.Ala2164fs)	CEP290 (A2164fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680626	NM_025114.4(CEP290):c.1471_1475del (p.Leu491fs)	CEP290 (L491fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680625	NM_025114.4(CEP290):c.5722G>T (p.Glu1908Ter)	CEP290 (E1908* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GPathogenic
Select item 2680624	NM_025114.4(CEP290):c.1824+1G>A	CEP290	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680623	NM_025114.4(CEP290):c.6276_6280dup (p.Arg2094fs)	CEP290, LOC129390514 (R2094fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680622	NM_025114.4(CEP290):c.4348_4356delinsTC (p.Pro1450fs)	CEP290 (P1450fs)	Indel (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680621	NM_025114.4(CEP290):c.5519_5537del (p.Lys1840fs)	CEP290 (K1840fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GPathogenic
Select item 2680620	NM_025114.4(CEP290):c.3200T>G (p.Leu1067Ter)	CEP290 (L1067* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680619	NM_025114.4(CEP290):c.3825_3829del (p.Gly1276fs)	CEP290 (G1276fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680618	NM_025114.4(CEP290):c.1453dup (p.Glu485fs)	CEP290 (E485fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680617	NM_025114.4(CEP290):c.2176del (p.Ala726fs)	CEP290 (A726fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680616	NM_025114.4(CEP290):c.2218-2A>G	CEP290	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680615	NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)	CEP290 (Q1633* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +3 more	GPathogenic
Select item 2680614	NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter)	CEP290 (E1140* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GPathogenic
Select item 2680613	NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)	CEP290 (E1246* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680612	NM_025114.4(CEP290):c.2478C>G (p.Tyr826Ter)	CEP290 (Y826*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680611	NM_025114.4(CEP290):c.1439_1450delinsG (p.Glu480fs)	CEP290 (E480fs)	Indel (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680610	NM_025114.4(CEP290):c.7327_7330delinsTATT (p.Glu2443_Lys2444delinsTyrTer)	CEP290, RLIG1	Indel (nonsense +1 more)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680609	NM_025114.4(CEP290):c.7334dup (p.Leu2448fs)	CEP290, RLIG1 (L2448fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 14	GPathogenic
Select item 2680608	NM_025114.4(CEP290):c.7256C>G (p.Ser2419Ter)	CEP290, RLIG1 (S1479* +1 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680607	NM_025114.4(CEP290):c.2586+1G>A	CEP290	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680606	NM_025114.4(CEP290):c.5794A>T (p.Lys1932Ter)	CEP290 (K1932* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680605	NM_025114.4(CEP290):c.626del (p.Ser209fs)	CEP290 (S209fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680604	NM_025114.4(CEP290):c.476del (p.Asn159fs)	CEP290 (N159fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680603	NM_025114.4(CEP290):c.6325G>T (p.Glu2109Ter)	CEP290, LOC129390514 (E1169* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680602	NM_025114.4(CEP290):c.5011C>T (p.Gln1671Ter)	CEP290 (Q1671* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GPathogenic
Select item 2680600	NM_025114.4(CEP290):c.2933del (p.Asp978fs)	CEP290 (D978fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 2680599	NM_025114.4(CEP290):c.2389_2390del (p.Lys797fs)	CEP290 (K797fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680598	NM_025114.4(CEP290):c.7162_7163del (p.Leu2388fs)	CEP290 (L2388fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680597	NM_025114.4(CEP290):c.7209+1G>A	CEP290	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 2680596	NM_025114.4(CEP290):c.4033del (p.Ile1345fs)	CEP290 (I1345fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680595	NM_025114.4(CEP290):c.5012+2T>G	CEP290	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680594	NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter)	CEP290 (L715*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +3 more	GPathogenic
Select item 2680593	NM_025114.4(CEP290):c.1169dup (p.Asn390fs)	CEP290 (N390fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680591	NM_025114.4(CEP290):c.3234_3235del (p.Lys1078fs)	CEP290 (K1078fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680590	NM_025114.4(CEP290):c.2304del (p.Gly768_Ile769insTer)	CEP290	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680589	NM_025114.4(CEP290):c.6249dup (p.Lys2084Ter)	CEP290 (K2084*)	Duplication (nonsense +1 more)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680588	NM_025114.4(CEP290):c.1171G>T (p.Glu391Ter)	CEP290 (E391*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680587	NM_025114.4(CEP290):c.1835_1838del (p.Leu612fs)	CEP290 (L612fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680586	NM_025114.4(CEP290):c.6226A>T (p.Lys2076Ter)	CEP290 (K1136* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680584	NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)	CEP290 (S1648* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680583	NM_025114.4(CEP290):c.833del (p.Asn278fs)	CEP290 (N278fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680582	NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)	CEP290 (Q1247* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680581	NM_025114.4(CEP290):c.7256_7259del (p.Ser2419fs)	CEP290, RLIG1 (S2419fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680579	NM_025114.4(CEP290):c.6138_6139delinsC (p.Ser2047fs)	CEP290 (S2047fs)	Indel (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680578	NM_025114.4(CEP290):c.7024C>T (p.Gln2342Ter)	CEP290 (Q1402* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680577	NM_025114.4(CEP290):c.5192dup (p.Ser1732fs)	CEP290 (S1732fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680576	NM_025114.4(CEP290):c.3310-1G>A	CEP290	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 14	GPathogenic
Select item 2680575	NM_025114.4(CEP290):c.6152C>G (p.Ser2051Ter)	CEP290 (S1111* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680574	NM_025114.4(CEP290):c.7311del (p.Asn2438fs)	CEP290, RLIG1 (N2438fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680572	NM_025114.4(CEP290):c.3897_3901del (p.Lys1299fs)	CEP290 (K1299fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680571	NM_025114.4(CEP290):c.3750_3753delinsA (p.Tyr1250_Tyr1251delinsTer)	CEP290	Indel (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680569	NM_025114.4(CEP290):c.5822del (p.Lys1941fs)	CEP290 (K1941fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680568	NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)	CEP290 (K347*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 2573848	NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)	CEP290 (Q1002* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2431201	NM_025114.4(CEP290):c.2632dup (p.Ile878fs)	CEP290 (I878fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2429287	NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)	CEP290 (Q1421* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +4 more	GPathogenic/Likely pathogenic
Select item 2418782	NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs)	CEP290 (E1933fs)	Microsatellite (frameshift variant)	Meckel-Gruber syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2184061	NM_025114.4(CEP290):c.4855dup (p.His1619fs)	CEP290 (H1619fs)	Duplication (frameshift variant)	Nephronophthisis +3 more	GPathogenic/Likely pathogenic
Select item 2178392	NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs)	CEP290 (L2392fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 2178323	NM_025114.4(CEP290):c.3917del (p.Asn1306fs)	CEP290 (N1306fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14 +3 more	GPathogenic/Likely pathogenic

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