ClinVar for MedGen (Select 350427) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068463	NM_001142800.2(EYS):c.5958del (p.Thr1987fs)	EYS (T1987fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2822786	NM_001142800.2(EYS):c.1052C>A (p.Ser351Ter)	EYS (S351*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +1 more	GPathogenic
Select item 2692447	NM_001142800.2(EYS):c.5644+1G>A	EYS	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675345	NM_001142800.2(EYS):c.7372C>T (p.Gln2458Ter)	EYS (Q2458*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675344	NM_001142800.2(EYS):c.1867del (p.Leu623fs)	EYS (L623fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675342	NM_001142800.2(EYS):c.5487dup (p.Glu1830fs)	EYS (E1830fs)	Duplication (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675341	NM_001142800.2(EYS):c.2704dup (p.Tyr902fs)	EYS (Y902fs)	Duplication (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675340	NM_001142800.2(EYS):c.4791T>A (p.Tyr1597Ter)	EYS (Y1597*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675339	NM_001142800.2(EYS):c.9324_9326delinsGG (p.Phe3108fs)	EYS, PHF3 (F3108fs +1 more)	Indel (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675338	NM_001142800.2(EYS):c.6835-2A>T	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675337	NM_001142800.2(EYS):c.2949del (p.Val982_Tyr983insTer)	EYS	Deletion (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675336	NM_001142800.2(EYS):c.3143C>G (p.Ser1048Ter)	EYS (S1048*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675335	NM_001142800.2(EYS):c.8697C>A (p.Cys2899Ter)	EYS, PHF3 (C2899* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675334	NM_001142800.2(EYS):c.2280_2283del (p.Ser761fs)	EYS (S761fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GPathogenic
Select item 2675333	NM_001142800.2(EYS):c.2381+1G>C	EYS	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675332	NM_001142800.2(EYS):c.830del (p.Ser277fs)	EYS (S277fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675331	NM_001142800.2(EYS):c.6036_6042del (p.Val2013fs)	EYS (V2013fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675330	NM_001142800.2(EYS):c.2011_2012del (p.Pro671fs)	EYS (P671fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675329	NM_001142800.2(EYS):c.-40_3dup (p.Thr2fs)	EYS (T2fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675328	NM_001142800.2(EYS):c.2993-1G>A	EYS	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2675327	NM_001142800.2(EYS):c.8150dup (p.Thr2718fs)	EYS (T2718fs +1 more)	Duplication (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675326	NM_001142800.2(EYS):c.7376dup (p.Asn2459fs)	EYS (N2459fs)	Duplication (frameshift variant)	Retinitis pigmentosa 25	GPathogenic
Select item 2675325	NM_001142800.2(EYS):c.6191+1del	EYS	Deletion (splice donor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675324	NM_001142800.2(EYS):c.6595C>T (p.Gln2199Ter)	EYS (Q2199*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675323	NM_001142800.2(EYS):c.4455_4458del (p.Arg1485fs)	EYS (R1485fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675322	NM_001142800.2(EYS):c.4939G>T (p.Glu1647Ter)	EYS (E1647*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675321	NM_001142800.2(EYS):c.9380_9383del (p.Ile3127fs)	EYS, PHF3 (I3127fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 2675320	NM_001142800.2(EYS):c.5988C>A (p.Cys1996Ter)	EYS (C1996*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GPathogenic
Select item 2675319	NM_001142800.2(EYS):c.8804dup (p.Tyr2935Ter)	EYS, PHF3 (Y2935* +1 more)	Duplication (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GPathogenic
Select item 2675318	NM_001142800.2(EYS):c.4901dup (p.Ser1635fs)	EYS (S1635fs)	Duplication (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675317	NM_001142800.2(EYS):c.5928del	EYS	Deletion (genic downstream transcript variant)	Retinitis pigmentosa 25	GPathogenic
Select item 2675316	NM_001142800.2(EYS):c.5254del (p.Ile1752fs)	EYS (I1752fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675315	NM_001142800.2(EYS):c.2380del (p.Arg794fs)	EYS (R794fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675314	NM_001142800.2(EYS):c.3510T>A (p.Cys1170Ter)	EYS (C1170*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675312	NM_001142800.2(EYS):c.4436C>A (p.Ser1479Ter)	EYS (S1479*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675311	NM_001142800.2(EYS):c.8858C>A (p.Ser2953Ter)	EYS, PHF3 (S2953* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GConflicting classifications of pathogenicity
Select item 2675310	NM_001142800.2(EYS):c.315_316delinsA (p.Asn105fs)	EYS (N105fs)	Indel (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675309	NM_001142800.2(EYS):c.1122T>A (p.Cys374Ter)	EYS (C374*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675308	NM_001142800.2(EYS):c.1460-2A>C	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675307	NM_001142800.2(EYS):c.449del (p.Thr150fs)	EYS (T150fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 2675306	NM_001142800.2(EYS):c.110C>A (p.Ser37Ter)	EYS (S37*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675305	NM_001142800.2(EYS):c.1770_1782del (p.Arg589_Cys590insTer)	EYS	Deletion (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675304	NM_001142800.2(EYS):c.5841del (p.Tyr1949fs)	EYS (Y1949fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 2675303	NM_001142800.2(EYS):c.5814del (p.Phe1938fs)	EYS (F1938fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675302	NM_001142800.2(EYS):c.5071G>T (p.Glu1691Ter)	EYS (E1691*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675301	NM_001142800.2(EYS):c.1505_1506insGA (p.Phe502fs)	EYS (F502fs)	Insertion (frameshift variant)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 2675300	NM_001142800.2(EYS):c.9010_9019del (p.Glu3004fs)	EYS, PHF3 (E3004fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675299	NM_001142800.2(EYS):c.9163_9164del (p.Leu3055fs)	EYS, PHF3 (L3055fs +1 more)	Microsatellite (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675298	NM_001142800.2(EYS):c.8392del (p.Asp2798fs)	EYS, PHF3 (D2798fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 2675297	NM_001142800.2(EYS):c.1123G>T (p.Glu375Ter)	EYS (E375*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675296	NM_001142800.2(EYS):c.4026del (p.Ala1343fs)	EYS (A1343fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675295	NM_001142800.2(EYS):c.1335T>A (p.Cys445Ter)	EYS (C445*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 2675294	NM_001142800.2(EYS):c.988G>T (p.Glu330Ter)	EYS (E330*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675293	NM_001142800.2(EYS):c.8413dup (p.Thr2805fs)	EYS, PHF3 (T2805fs +1 more)	Duplication (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GPathogenic
Select item 2675292	NM_001142800.2(EYS):c.9337_9350del (p.Lys3113fs)	EYS, PHF3 (K3113fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic
Select item 2675291	NM_001142800.2(EYS):c.2068del (p.Cys690fs)	EYS (C690fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675290	NM_001142800.2(EYS):c.7017T>A (p.Cys2339Ter)	EYS (C2339*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675289	NM_001142800.2(EYS):c.117T>A (p.Tyr39Ter)	EYS (Y39*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675288	NM_001142800.2(EYS):c.8242_8243del (p.Leu2748fs)	EYS, PHF3 (L2748fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GPathogenic
Select item 2675287	NM_001142800.2(EYS):c.5677_5681del (p.Tyr1893fs)	EYS (Y1893fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 2675286	NM_001142800.2(EYS):c.6138G>A (p.Trp2046Ter)	EYS (W2046*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675285	NM_001142800.2(EYS):c.7178del (p.Asp2393fs)	EYS (D2393fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675284	NM_001142800.2(EYS):c.2623dup (p.His875fs)	EYS (H875fs)	Duplication (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675283	NM_001142800.2(EYS):c.6078+1G>A	EYS	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675282	NM_001142800.2(EYS):c.251T>G (p.Leu84Ter)	EYS (L84*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675281	NM_001142800.2(EYS):c.1482dup (p.Gly495fs)	EYS (G495fs)	Duplication (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675280	NM_001142800.2(EYS):c.8412_8413insCA (p.Thr2805fs)	EYS, PHF3 (T2805fs +1 more)	Insertion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675279	NM_001142800.2(EYS):c.2739del	EYS	Deletion (genic downstream transcript variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675278	NM_001142800.2(EYS):c.8254_8255del (p.Leu2752fs)	EYS, PHF3 (L2752fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675277	NM_001142800.2(EYS):c.2382-1G>A	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675276	NM_001142800.2(EYS):c.253G>T (p.Gly85Ter)	EYS (G85*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675275	NM_001142800.2(EYS):c.1711C>T (p.Gln571Ter)	EYS (Q571*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675274	NM_001142800.2(EYS):c.8071+2del	EYS	Deletion (splice donor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675273	NM_001142800.2(EYS):c.5238del (p.Phe1746fs)	EYS (F1746fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 2675272	NM_001142800.2(EYS):c.7921A>T (p.Lys2641Ter)	EYS (K2641*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675271	NM_001142800.2(EYS):c.2138-2A>G	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675270	NM_001142800.2(EYS):c.3178_3179del (p.Leu1059_Ile1060insTer)	EYS	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675269	NM_001142800.2(EYS):c.1436_1437del (p.Tyr479fs)	EYS (Y479fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675268	NM_001142800.2(EYS):c.1300-3_1300-2inv	EYS	Inversion (splice acceptor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675267	NM_001142800.2(EYS):c.7495dup (p.Ser2499fs)	EYS (S2499fs)	Duplication (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675266	NM_001142800.2(EYS):c.6192-1G>A	EYS	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2675265	NM_001142800.2(EYS):c.1809_1812delinsTAA (p.Asn604fs)	EYS (N604fs)	Indel (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675264	NM_001142800.2(EYS):c.2579_2580delinsAA (p.Cys860Ter)	EYS (C860*)	Indel (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675263	NM_001142800.2(EYS):c.4717C>T (p.Gln1573Ter)	EYS (Q1573*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675262	NM_001142800.2(EYS):c.8072-2A>G	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25 +1 more	GLikely pathogenic
Select item 2675261	NM_001142800.2(EYS):c.5645-1G>A	EYS	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2675260	NM_001142800.2(EYS):c.160_162delinsAA (p.Tyr54fs)	EYS (Y54fs)	Indel (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675259	NM_001142800.2(EYS):c.1184+1G>T	EYS	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675258	NM_001142800.2(EYS):c.2716G>T (p.Glu906Ter)	EYS (E906*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675257	NM_001142800.2(EYS):c.6726-12_6735del	EYS	Deletion (splice acceptor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675256	NM_001142800.2(EYS):c.1600-1G>T	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675255	NM_001142800.2(EYS):c.2847-1G>T	EYS	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675254	NM_001142800.2(EYS):c.9086_9087del (p.Ser3029fs)	EYS, PHF3 (S3029fs +1 more)	Microsatellite (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675253	NM_001142800.2(EYS):c.7126G>T (p.Glu2376Ter)	EYS (E2376*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675252	NM_001142800.2(EYS):c.4665_4666del (p.Ala1557fs)	EYS (A1557fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675251	NM_001142800.2(EYS):c.2847-2A>G	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675250	NM_001142800.2(EYS):c.9067_9085del (p.Asn3023fs)	EYS, PHF3 (N3023fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675249	NM_001142800.2(EYS):c.942del (p.Ala315fs)	EYS (A315fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 2675248	NM_001142800.2(EYS):c.927C>A (p.Cys309Ter)	EYS (C309*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675247	NM_001142800.2(EYS):c.9013G>T (p.Glu3005Ter)	EYS, PHF3 (E3005* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic

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