ClinVar for PubMed (Select 23222957) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242750	NC_000018.9:g.(?_43464697)_(43468959_?)del	EPG5	Deletion	Vici syndrome	GLikely pathogenic
Select item 3242749	NC_000018.9:g.(?_43523107)_(43524105_?)dup	EPG5	Duplication	Vici syndrome	GLikely pathogenic
Select item 3242748	NC_000018.9:g.(?_43437798)_(43469925_?)dup	EPG5	Duplication	Vici syndrome	GLikely pathogenic
Select item 3242746	NC_000018.9:g.(?_43519546)_(43535324_?)del	EPG5	Deletion	Vici syndrome	GPathogenic
Select item 3242745	NC_000018.9:g.(?_43495456)_(43497804_?)del	EPG5	Deletion	Vici syndrome	GPathogenic
Select item 3242743	NC_000018.9:g.(?_43502287)_(43503373_?)del	EPG5	Deletion	Vici syndrome	GPathogenic
Select item 3242742	NC_000018.9:g.(?_43456181)_(43456327_?)del	EPG5	Deletion	Vici syndrome	GPathogenic
Select item 3242741	NC_000018.9:g.(?_43467696)_(43467892_?)del	EPG5	Deletion	Vici syndrome	GPathogenic
Select item 2998808	NM_020964.3(EPG5):c.1351C>T (p.Gln451Ter)	EPG5, LOC126862737 (Q451*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2997182	NM_020964.3(EPG5):c.2147_2150del (p.Ser716fs)	EPG5 (S716fs)	Microsatellite (frameshift variant)	Vici syndrome	GPathogenic
Select item 2990004	NM_020964.3(EPG5):c.3325C>T (p.Gln1109Ter)	EPG5 (Q1109*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2982389	NM_020964.3(EPG5):c.2953C>T (p.Gln985Ter)	EPG5 (Q985*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2962792	NM_020964.3(EPG5):c.333del (p.Cys112fs)	EPG5 (C112fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2919400	NM_020964.3(EPG5):c.2191dup (p.Glu731fs)	EPG5 (E731fs)	Duplication (frameshift variant)	Vici syndrome	GPathogenic
Select item 2911417	NM_020964.3(EPG5):c.1847_1859del (p.Ala615_Phe616insTer)	EPG5	Deletion (nonsense)	Vici syndrome	GPathogenic
Select item 2865285	NM_020964.3(EPG5):c.5045_5057dup (p.Arg1686_His1687insTer)	EPG5	Duplication (nonsense +1 more)	Vici syndrome	GPathogenic
Select item 2864565	NM_020964.3(EPG5):c.2719-1G>C	EPG5	Single nucleotide variant (splice acceptor variant)	Vici syndrome	GLikely pathogenic
Select item 2862834	NM_020964.3(EPG5):c.5669dup (p.Met1891fs)	EPG5 (M1891fs)	Duplication (frameshift variant)	Vici syndrome	GPathogenic
Select item 2858767	NM_020964.3(EPG5):c.2737C>T (p.Gln913Ter)	EPG5 (Q913*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2858021	NM_020964.3(EPG5):c.6218del (p.Phe2073fs)	EPG5 (F2073fs +1 more)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2856568	NM_020964.3(EPG5):c.1389+2T>G	EPG5, LOC126862737	Single nucleotide variant (splice donor variant)	Vici syndrome	GLikely pathogenic
Select item 2854560	NM_020964.3(EPG5):c.2839-1G>T	EPG5	Single nucleotide variant (splice acceptor variant)	Vici syndrome	GLikely pathogenic
Select item 2854277	NM_020964.3(EPG5):c.582del (p.Asn194fs)	EPG5 (N194fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2853255	NM_020964.3(EPG5):c.1166C>G (p.Ser389Ter)	EPG5 (S389*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2847029	NM_020964.3(EPG5):c.5107C>T (p.Gln1703Ter)	EPG5 (Q1703*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2844636	NM_020964.3(EPG5):c.5472C>G (p.Tyr1824Ter)	EPG5 (Y1824*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2844520	NM_020964.3(EPG5):c.631A>T (p.Arg211Ter)	EPG5 (R211*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2843747	NM_020964.3(EPG5):c.4184_4205+5del	EPG5	Deletion (splice donor variant)	Vici syndrome	GLikely pathogenic
Select item 2843552	NM_020964.3(EPG5):c.1521del (p.Val509fs)	EPG5 (V509fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2842157	NM_020964.3(EPG5):c.6377T>G (p.Leu2126Ter)	EPG5 (L2125* +1 more)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2840107	NM_020964.3(EPG5):c.6225+2T>C	EPG5	Single nucleotide variant (splice donor variant)	Vici syndrome	GLikely pathogenic
Select item 2838437	NM_020964.3(EPG5):c.5564_5565del (p.Leu1855fs)	EPG5 (L1855fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2833946	NM_020964.3(EPG5):c.2695_2718+32del	EPG5	Deletion (splice donor variant)	Vici syndrome	GLikely pathogenic
Select item 2833458	NM_020964.3(EPG5):c.6419dup (p.Leu2141fs)	EPG5 (L2140fs +1 more)	Duplication (frameshift variant)	Vici syndrome	GPathogenic
Select item 2833168	NM_020964.3(EPG5):c.1405dup (p.Arg469fs)	EPG5 (R469fs)	Duplication (frameshift variant)	Vici syndrome	GPathogenic
Select item 2831909	NM_020964.3(EPG5):c.4391del (p.Gly1464fs)	EPG5 (G1464fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2829079	NM_020964.3(EPG5):c.5110-2A>G	EPG5	Single nucleotide variant (splice acceptor variant)	Vici syndrome	GLikely pathogenic
Select item 2818388	NM_020964.3(EPG5):c.671_672insCAGC (p.Gly225fs)	EPG5 (G225fs)	Insertion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2816083	NM_020964.3(EPG5):c.5660_5664del (p.Asp1887fs)	EPG5 (D1887fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2815507	NM_020964.3(EPG5):c.486_491del (p.Tyr162_Gln164delinsTer)	EPG5	Deletion (nonsense)	Vici syndrome	GPathogenic
Select item 2805679	NM_020964.3(EPG5):c.4499T>A (p.Leu1500Ter)	EPG5 (L1500*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2791002	NM_020964.3(EPG5):c.6689del (p.Asn2230fs)	EPG5 (N2229fs +1 more)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2790493	NM_020964.3(EPG5):c.63+1G>T	EPG5	Single nucleotide variant (splice donor variant)	Vici syndrome	GLikely pathogenic
Select item 2790074	NM_020964.3(EPG5):c.4809+1G>A	EPG5	Single nucleotide variant (splice donor variant)	Vici syndrome	GLikely pathogenic
Select item 2784263	NM_020964.3(EPG5):c.4475-2A>C	EPG5	Single nucleotide variant (splice acceptor variant)	Vici syndrome	GLikely pathogenic
Select item 2776462	NM_020964.3(EPG5):c.1991del (p.His664fs)	EPG5 (H664fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2770861	NM_020964.3(EPG5):c.1629_1630del (p.Gly544fs)	EPG5 (G544fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2767151	NM_020964.3(EPG5):c.4636C>T (p.Gln1546Ter)	EPG5 (Q1546*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2766859	NM_020964.3(EPG5):c.5943-2A>G	EPG5	Single nucleotide variant (splice acceptor variant +1 more)	Vici syndrome	GLikely pathogenic
Select item 2764980	NM_020964.3(EPG5):c.3248C>A (p.Ser1083Ter)	EPG5 (S1083*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2764563	NM_020964.3(EPG5):c.5971G>T (p.Glu1991Ter)	EPG5 (E1990* +1 more)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2761937	NM_020964.3(EPG5):c.102del (p.Ser35fs)	EPG5 (S35fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2761850	NM_020964.3(EPG5):c.3859C>T (p.Gln1287Ter)	EPG5 (Q1287*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2760313	NM_020964.3(EPG5):c.6410_6411del (p.Thr2137fs)	EPG5 (T2136fs +1 more)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2755516	NM_020964.3(EPG5):c.4051G>T (p.Glu1351Ter)	EPG5 (E1351*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2754865	NM_020964.3(EPG5):c.4719T>G (p.Tyr1573Ter)	EPG5 (Y1573*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2751797	NM_020964.3(EPG5):c.3487C>T (p.Gln1163Ter)	EPG5 (Q1163*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2748710	NM_020964.3(EPG5):c.6049+2T>C	EPG5	Single nucleotide variant (splice donor variant)	Vici syndrome	GLikely pathogenic
Select item 2748427	NM_020964.3(EPG5):c.299_300del (p.Thr100fs)	EPG5 (T100fs)	Microsatellite (frameshift variant)	Vici syndrome	GPathogenic
Select item 2747288	NM_020964.3(EPG5):c.3785del (p.Asn1262fs)	EPG5 (N1262fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2736724	NM_020964.3(EPG5):c.3493_3497del (p.Ile1165fs)	EPG5 (I1165fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2736723	NM_020964.3(EPG5):c.5110-1G>C	EPG5	Single nucleotide variant (splice acceptor variant)	Vici syndrome	GPathogenic
Select item 2729625	NM_020964.3(EPG5):c.3148C>T (p.Gln1050Ter)	EPG5 (Q1050*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2725835	NM_020964.3(EPG5):c.4876C>T (p.Gln1626Ter)	EPG5 (Q1626*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2719089	NM_020964.3(EPG5):c.6541G>T (p.Glu2181Ter)	EPG5 (E2180* +1 more)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2717503	NM_020964.3(EPG5):c.2449del (p.Ser817fs)	EPG5 (S817fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2717491	NM_020964.3(EPG5):c.5962_5968del (p.Tyr1987_Pro1988insTer)	EPG5	Deletion (nonsense)	Vici syndrome	GPathogenic
Select item 2707868	NM_020964.3(EPG5):c.205C>T (p.Gln69Ter)	EPG5 (Q69*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2707598	NM_020964.3(EPG5):c.4132G>T (p.Glu1378Ter)	EPG5 (E1378*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2705864	NM_020964.3(EPG5):c.5544del (p.Glu1849fs)	EPG5 (E1849fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2704818	NM_020964.3(EPG5):c.5389dup (p.Thr1797fs)	EPG5 (T1797fs)	Duplication (frameshift variant)	Vici syndrome	GPathogenic
Select item 2702888	NM_020964.3(EPG5):c.5683C>T (p.Gln1895Ter)	EPG5 (Q1895*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2702734	NM_020964.3(EPG5):c.277G>T (p.Glu93Ter)	EPG5 (E93*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2701096	NM_020964.3(EPG5):c.3590T>A (p.Leu1197Ter)	EPG5 (L1197*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2695792	NM_020964.3(EPG5):c.5576del (p.Gly1859fs)	EPG5 (G1859fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2695474	NM_020964.3(EPG5):c.3210_3213del (p.Cys1071fs)	EPG5 (C1071fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2693661	NM_020964.3(EPG5):c.5322del (p.Trp1774fs)	EPG5 (W1774fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2580108	NM_020964.3(EPG5):c.3200del (p.Leu1067fs)	EPG5 (L1067fs)	Deletion (frameshift variant)	Vici syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2412757	NM_020964.3(EPG5):c.6724del (p.Met2242fs)	EPG5 (M2242fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2138148	NM_020964.3(EPG5):c.2355del (p.Arg786fs)	EPG5 (R786fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2124929	NM_020964.3(EPG5):c.6898dup (p.Met2300fs)	EPG5 (M2300fs)	Duplication (frameshift variant)	Vici syndrome	GPathogenic
Select item 2095515	NM_020964.3(EPG5):c.3882_3883del (p.Trp1294fs)	EPG5 (W1294fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 2027267	NM_020964.3(EPG5):c.3817-2A>G	EPG5	Single nucleotide variant (splice acceptor variant)	Vici syndrome	GLikely pathogenic
Select item 2014197	NM_020964.3(EPG5):c.4475-1G>A	EPG5	Single nucleotide variant (splice acceptor variant)	Vici syndrome	GLikely pathogenic
Select item 1928829	NM_020964.3(EPG5):c.1777_1781del (p.Leu592_Gly593insTer)	EPG5	Deletion (frameshift variant +1 more)	Vici syndrome	GPathogenic
Select item 1508054	NM_020964.3(EPG5):c.3693+2_3693+5del	EPG5	Deletion (splice donor variant)	Vici syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1499439	NM_020964.3(EPG5):c.4952+1G>A	EPG5	Single nucleotide variant (splice donor variant)	Vici syndrome	GLikely pathogenic
Select item 1488108	NM_020964.3(EPG5):c.3098+2T>C	EPG5	Single nucleotide variant (splice donor variant)	Vici syndrome	GLikely pathogenic
Select item 1459687	NC_000018.9:g.(?_43502287)_(43505888_?)del	EPG5	Deletion	Vici syndrome	GPathogenic
Select item 1452102	NM_020964.3(EPG5):c.4020dup (p.Gln1341fs)	EPG5 (Q1341fs)	Duplication (frameshift variant)	Vici syndrome	GPathogenic
Select item 1444421	NM_020964.3(EPG5):c.5617G>T (p.Glu1873Ter)	EPG5 (E1873*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 1433186	NM_020964.3(EPG5):c.2041del (p.Gln681fs)	EPG5 (Q681fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 1425424	NC_000018.9:g.(?_43547123)_(43547205_?)del	EPG5	Deletion	Vici syndrome	GPathogenic
Select item 1424550	NM_020964.3(EPG5):c.2427del (p.Leu810fs)	EPG5 (L810fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 1423367	NM_020964.3(EPG5):c.5022_5023insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGCCTTTTCTTT (p.Thr1675delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer)	EPG5	Insertion (nonsense)	Vici syndrome	GPathogenic
Select item 1413281	NM_020964.3(EPG5):c.2450C>A (p.Ser817Ter)	EPG5 (S817*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 1408314	NM_020964.3(EPG5):c.7057C>T (p.Gln2353Ter)	EPG5 (Q2353*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 1403207	NM_020964.3(EPG5):c.5382_5388del (p.Ala1795fs)	EPG5 (A1795fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 1356590	NM_020964.3(EPG5):c.5653_5654del (p.Leu1885fs)	EPG5 (L1885fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 1322825	NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter)	EPG5 (R955*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic

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