ClinVar for PubMed (Select 8956999) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3009844	NM_000091.5(COL4A3):c.4738G>T (p.Gly1580Ter)	COL4A3, MFF-DT (G1580*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3006983	NM_000091.5(COL4A3):c.1928-2A>G	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2984543	NM_000091.5(COL4A3):c.1109del (p.Pro370fs)	COL4A3, MFF-DT (P370fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2910158	NM_000091.5(COL4A3):c.3418+1G>T	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2905099	NM_000091.5(COL4A3):c.4483C>T (p.Gln1495Ter)	COL4A3, MFF-DT (Q1495*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2876047	NM_000091.5(COL4A3):c.3419-5_3424del	COL4A3, MFF-DT	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2869562	NM_000091.5(COL4A3):c.4722G>A (p.Trp1574Ter)	COL4A3, MFF-DT (W1574*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2862654	NM_000091.5(COL4A3):c.2782_2797del (p.Gly928fs)	COL4A3, MFF-DT (G928fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2852482	NM_000091.5(COL4A3):c.610-1G>C	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2850475	NM_000091.5(COL4A3):c.2086del (p.Ile696fs)	COL4A3, MFF-DT (I696fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2843813	NM_000091.5(COL4A3):c.4450G>T (p.Gly1484Ter)	COL4A3, MFF-DT (G1484*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2840649	NM_000091.5(COL4A3):c.1213_1214del (p.Glu405fs)	COL4A3, MFF-DT (E405fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2824581	NM_000091.5(COL4A3):c.2882-916_2927del	COL4A3, MFF-DT	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2823561	NM_000091.5(COL4A3):c.829-2A>G	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2822466	NM_000091.5(COL4A3):c.1886del (p.Thr629fs)	COL4A3, MFF-DT (T629fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2820214	NM_000091.5(COL4A3):c.3608del (p.Pro1203fs)	COL4A3, MFF-DT (P1203fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2813808	NM_000091.5(COL4A3):c.2628del (p.Gly877fs)	COL4A3, MFF-DT (G877fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2810039	NM_000091.5(COL4A3):c.3801_3802del (p.Gly1268fs)	COL4A3, MFF-DT (G1268fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2809425	NM_000091.5(COL4A3):c.2488+1G>T	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2807395	NM_000091.5(COL4A3):c.226_229dup (p.Pro77fs)	COL4A3, MFF-DT (P77fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2806524	NC_000002.12:g.227253562dup	COL4A3, MFF-DT	Duplication	not provided	GPathogenic
Select item 2789128	NM_000091.5(COL4A3):c.1778_1793del (p.Gly593fs)	COL4A3, MFF-DT (G593fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2785113	NM_000091.5(COL4A3):c.1114+1G>T	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2767161	NM_000091.5(COL4A3):c.3071-1G>T	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2766393	NM_000091.5(COL4A3):c.3797_3798insGT (p.Ile1266fs)	COL4A3, MFF-DT (I1266fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2765083	NM_000091.5(COL4A3):c.133A>T (p.Lys45Ter)	COL4A3, MFF-DT (K45*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2763228	NM_000091.5(COL4A3):c.466A>T (p.Lys156Ter)	COL4A3, MFF-DT (K156*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2759982	NM_000091.5(COL4A3):c.1759-1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2755909	NM_000091.5(COL4A3):c.3565+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2753752	NM_000091.5(COL4A3):c.3883-1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2751369	NM_000091.5(COL4A3):c.370G>T (p.Gly124Ter)	COL4A3, MFF-DT (G124*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2747615	NM_000091.5(COL4A3):c.3955+2T>G	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2745948	NM_000091.5(COL4A3):c.1037_1038del (p.Tyr346fs)	COL4A3, MFF-DT (Y346fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2734424	NM_000091.5(COL4A3):c.3565+1del	COL4A3, MFF-DT	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2734421	NM_000091.5(COL4A3):c.2980+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2734420	NM_000091.5(COL4A3):c.2745_2746+7del	COL4A3, MFF-DT	Deletion (splice donor variant)	not provided	GPathogenic
Select item 2734418	NM_000091.5(COL4A3):c.1845dup (p.Pro616fs)	COL4A3, MFF-DT (P616fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2731165	NM_000091.5(COL4A3):c.1408+1G>C	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2730035	NM_000091.5(COL4A3):c.87+1G>A	COL4A3, LOC129935730	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2714105	NM_000091.5(COL4A3):c.257del (p.Leu86fs)	COL4A3, MFF-DT (L86fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2694398	NM_000091.5(COL4A3):c.3180del (p.Gly1061fs)	COL4A3, MFF-DT (G1061fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2681739	NM_000091.5(COL4A3):c.1274C>A (p.Ser425Ter)	COL4A3, MFF-DT (S425*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2629472	NM_000091.5(COL4A3):c.334_337del (p.Gly112fs)	COL4A3, MFF-DT (G112fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2579918	NM_000091.5(COL4A3):c.3956-1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2439376	NM_000091.5(COL4A3):c.3768del (p.Gly1257fs)	COL4A3, MFF-DT (G1257fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 2422341	NC_000002.11:g.(?_228117992)_(228124613_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 2203284	NM_000091.5(COL4A3):c.4531_4534del (p.Cys1511fs)	COL4A3, MFF-DT (C1511fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2203282	NM_000091.5(COL4A3):c.3866del (p.Gly1289fs)	COL4A3, MFF-DT (G1289fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2203276	NM_000091.5(COL4A3):c.145-2A>G	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2151963	NM_000091.5(COL4A3):c.933+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2126903	NM_000091.5(COL4A3):c.3088G>T (p.Gly1030Ter)	COL4A3, MFF-DT (G1030*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2125295	NM_000091.5(COL4A3):c.68del (p.Ala23fs)	COL4A3, LOC129935730 (A23fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2123701	NM_000091.5(COL4A3):c.2908G>T (p.Gly970Ter)	COL4A3, MFF-DT (G970*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2118020	NM_000091.5(COL4A3):c.4477dup (p.Cys1493fs)	COL4A3, MFF-DT (C1493fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2114671	NM_000091.5(COL4A3):c.144+1G>C	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2113196	NM_000091.5(COL4A3):c.4650_4653del (p.Cys1551fs)	COL4A3, MFF-DT (C1551fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2105959	NM_000091.5(COL4A3):c.524T>A (p.Leu175Ter)	COL4A3, MFF-DT (L175*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2105186	NM_000091.5(COL4A3):c.448del (p.Ala150fs)	COL4A3, MFF-DT (A150fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2104082	NM_000091.5(COL4A3):c.609+2_609+3del	COL4A3, MFF-DT	Microsatellite (splice donor variant)	not provided	GLikely pathogenic
Select item 2101584	NM_000091.5(COL4A3):c.3419-2A>G	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2101391	NM_000091.5(COL4A3):c.4144_4151del (p.Gly1382fs)	COL4A3, MFF-DT (G1382fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2093767	NM_000091.5(COL4A3):c.3337+1G>T	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2093215	NM_000091.5(COL4A3):c.3737C>G (p.Ser1246Ter)	COL4A3, MFF-DT (S1246*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2091933	NM_000091.5(COL4A3):c.825dup (p.Ser276fs)	COL4A3, MFF-DT (S276fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2063446	NM_000091.5(COL4A3):c.3338-1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2032072	NM_000091.5(COL4A3):c.4589del (p.Pro1530fs)	COL4A3, MFF-DT (P1530fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2027881	NM_000091.5(COL4A3):c.1206_1210del (p.Ser402fs)	COL4A3, MFF-DT (S402fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2022013	NM_000091.5(COL4A3):c.369del (p.Gly124fs)	COL4A3, MFF-DT (G124fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2018356	NM_000091.5(COL4A3):c.2020+1G>T	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2006331	NM_000091.5(COL4A3):c.4253-1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2005534	NM_000091.5(COL4A3):c.2375-11_2384del	COL4A3, MFF-DT	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1977306	NM_000091.5(COL4A3):c.3152del (p.Gly1051fs)	COL4A3, MFF-DT (G1051fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1953440	NM_000091.5(COL4A3):c.1991del (p.Pro664fs)	MFF-DT, COL4A3 (P664fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1915189	NM_000091.5(COL4A3):c.3419-1G>C	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1910410	NM_000091.5(COL4A3):c.3071-1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1525227	NM_000091.5(COL4A3):c.4640_4640+11del	COL4A3, MFF-DT	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1520952	NM_000091.5(COL4A3):c.4755+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1508339	NM_000091.5(COL4A3):c.3518-2A>G	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1505125	NM_000091.5(COL4A3):c.3517+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1503995	NM_000091.5(COL4A3):c.547-2A>G	MFF-DT, COL4A3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1499344	NM_000091.5(COL4A3):c.234+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 1498304	NM_000091.5(COL4A3):c.3210+2T>C	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1496550	NM_000091.5(COL4A3):c.1114+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 1494752	NM_000091.5(COL4A3):c.688-1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1490254	NM_000091.5(COL4A3):c.2126-1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1486206	NM_000091.5(COL4A3):c.2375-2A>T	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1476679	NM_000091.5(COL4A3):c.3070+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Autosomal dominant Alport syndrome +3 more	GLikely pathogenic
Select item 1469247	NM_000091.5(COL4A3):c.235-1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1465966	NM_000091.5(COL4A3):c.324+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1465711	NM_000091.5(COL4A3):c.2224-2A>G	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1460330	NM_000091.5(COL4A3):c.1885dup (p.Thr629fs)	COL4A3, MFF-DT (T629fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1459525	NC_000002.11:g.(?_228162380)_(228163538_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 1458424	NM_000091.5(COL4A3):c.1443T>A (p.Tyr481Ter)	COL4A3, MFF-DT (Y481*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1457313	NM_000091.5(COL4A3):c.3176C>G (p.Ser1059Ter)	COL4A3, MFF-DT (S1059*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1457042	NC_000002.11:g.(?_228029443)_(228176586_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 1456975	NM_000091.5(COL4A3):c.3767del (p.Pro1256fs)	COL4A3, MFF-DT (P1256fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1456910	NM_000091.5(COL4A3):c.1908dup (p.Gly637fs)	COL4A3, MFF-DT (G637fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1456819	NM_000091.5(COL4A3):c.1033G>T (p.Glu345Ter)	COL4A3, MFF-DT (E345*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1454831	NM_000091.5(COL4A3):c.4425dup (p.Val1476fs)	COL4A3, MFF-DT (V1476fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1454508	NC_000002.11:g.(?_228137645)_(228137853_?)del	COL4A3	Deletion	not provided	GPathogenic

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