Nup205 Variant Search Result - Rat Genome Database

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519 records found for search term Nup205

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150494226	CV1256424	single nucleotide variant	NM_015135.3(NUP205):c.-5C>T	not provided [RCV001675389]	benign	7	135557940	135557940	Human		name
150535781	CV1307079	single nucleotide variant	NM_015135.3(NUP205):c.*6C>T	not provided [RCV001759134]	likely benign	7	135648562	135648562	Human		name
405269181	CV3201253	single nucleotide variant	NM_015135.3(NUP205):c.*7G>A	NUP205-related disorder [RCV003899359]	likely benign	7	135648563	135648563	Human		name , trait , alternate_id
150472877	CV1235132	duplication	NM_015135.3(NUP205):c.*192dup	not provided [RCV001651501]	benign	7	135648741	135648742	Human		name
150447116	CV1250776	single nucleotide variant	NM_015135.3(NUP205):c.29-27G>A	not provided [RCV001667281]	benign	7	135571078	135571078	Human		name
150545081	CV1307601	single nucleotide variant	NM_015135.3(NUP205):c.344-9C>G	not provided [RCV001774879]	benign\|likely benign	7	135576261	135576261	Human		name
150541394	CV1308849	single nucleotide variant	NM_015135.3(NUP205):c.28+27T>C	not provided [RCV001767937]	likely benign	7	135557999	135557999	Human		name
151756326	CV1365627	single nucleotide variant	NM_015135.3(NUP205):c.488+5T>C	not provided [RCV001872750]	conflicting interpretations of pathogenicity\|uncertain significance	7	135576419	135576419	Human		name
155928699	CV2067148	single nucleotide variant	NM_015135.3(NUP205):c.877+6G>T	not provided [RCV002838654]	uncertain significance	7	135578030	135578030	Human		name
405223252	CV3057134	single nucleotide variant	NM_015135.3(NUP205):c.28+14G>C	not provided [RCV003733554]	likely benign	7	135557986	135557986	Human		name
150336122	CV1171669	single nucleotide variant	NM_015135.3(NUP205):c.3460+5G>C	not provided [RCV001540851]	benign	7	135616070	135616070	Human		name
150440692	CV1233424	single nucleotide variant	NM_015135.3(NUP205):c.171+51C>T	not provided [RCV001645112]	benign	7	135571298	135571298	Human		name
150472541	CV1235074	single nucleotide variant	NM_015135.3(NUP205):c.29-266T>A	not provided [RCV001651443]	benign	7	135570839	135570839	Human		name
150470647	CV1248037	single nucleotide variant	NM_015135.3(NUP205):c.28+190C>T	not provided [RCV001671073]	benign	7	135558162	135558162	Human		name
150475911	CV1251784	single nucleotide variant	NM_015135.3(NUP205):c.5559+4C>T	Nephrotic syndrome, type 13 [RCV001788737]\|not provided [RCV001671982]	benign	7	135643362	135643362	Human	1	name
150502011	CV1255175	single nucleotide variant	NM_015135.3(NUP205):c.649-11T>C	Nephrotic syndrome, type 13 [RCV001788740]\|not provided [RCV001677094]	benign	7	135577785	135577785	Human	1	name
150490794	CV1267672	single nucleotide variant	NM_015135.3(NUP205):c.489-28G>A	not provided [RCV001687696]	benign	7	135576941	135576941	Human		name
150495694	CV1272696	deletion	NM_015135.3(NUP205):c.171+45del	not provided [RCV001688619]	benign	7	135571280	135571280	Human		name
150475621	CV1279095	single nucleotide variant	NM_015135.3(NUP205):c.28+253T>G	not provided [RCV001713867]	benign	7	135558225	135558225	Human		name
150534994	CV1306754	single nucleotide variant	NM_015135.3(NUP205):c.28+292A>G	not provided [RCV001757752]	likely benign	7	135558264	135558264	Human		name
150534628	CV1307890	single nucleotide variant	NM_015135.3(NUP205):c.171+59G>C	not provided [RCV001757612]	likely benign	7	135571306	135571306	Human		name
152072580	CV1549429	single nucleotide variant	NM_015135.3(NUP205):c.649-14G>A	not provided [RCV002091792]	likely benign	7	135577782	135577782	Human		name
152035129	CV1590305	single nucleotide variant	NM_015135.3(NUP205):c.488+15T>C	not provided [RCV002205458]	benign	7	135576429	135576429	Human		name
152158247	CV1630719	single nucleotide variant	NM_015135.3(NUP205):c.648+12A>G	not provided [RCV002122743]	benign	7	135577140	135577140	Human		name
152094383	CV1632101	single nucleotide variant	NM_015135.3(NUP205):c.5060-9A>G	not provided [RCV002132434]	benign	7	135635572	135635572	Human		name
156320049	CV1872975	duplication	NM_015135.3(NUP205):c.4932+4dup	not provided [RCV003063000]	uncertain significance	7	135628113	135628114	Human		name
156409145	CV1877607	single nucleotide variant	NM_015135.3(NUP205):c.5393-7C>T	not provided [RCV003071546]	likely benign	7	135643185	135643185	Human		name
156313715	CV1896657	single nucleotide variant	NM_015135.3(NUP205):c.4330+5A>G	not provided [RCV003088595]	uncertain significance	7	135619893	135619893	Human		name
156378781	CV1903155	single nucleotide variant	NM_015135.3(NUP205):c.5559+5G>A	not provided [RCV003093099]	uncertain significance	7	135643363	135643363	Human		name
156096164	CV1920407	single nucleotide variant	NM_015135.3(NUP205):c.1625-7T>C	not provided [RCV002592096]	likely benign	7	135592980	135592980	Human		name
156308614	CV1924922	single nucleotide variant	NM_015135.3(NUP205):c.877+14T>A	not provided [RCV002629627]	likely benign	7	135578038	135578038	Human		name
156159231	CV1984328	single nucleotide variant	NM_015135.3(NUP205):c.4480-9T>G	not provided [RCV002642342]	uncertain significance	7	135625155	135625155	Human		name
156250838	CV2041044	single nucleotide variant	NM_015135.3(NUP205):c.2275-4A>G	not provided [RCV002806003]	likely benign	7	135600866	135600866	Human		name
156313032	CV2107697	single nucleotide variant	NM_015135.3(NUP205):c.2374+4A>G	not provided [RCV002937283]	uncertain significance	7	135600973	135600973	Human		name
156230081	CV2111929	single nucleotide variant	NM_015135.3(NUP205):c.4933-5C>G	not provided [RCV002918902]	likely benign	7	135630339	135630339	Human		name
155904123	CV2127162	single nucleotide variant	NM_015135.3(NUP205):c.2064+6G>A	not provided [RCV002967605]	uncertain significance	7	135597424	135597424	Human		name
402477853	CV2858262	single nucleotide variant	NM_015135.3(NUP205):c.4232-4C>G	not provided [RCV003543670]	likely benign	7	135619786	135619786	Human		name
405216399	CV2872477	single nucleotide variant	NM_015135.3(NUP205):c.5559+8T>A	not provided [RCV003553253]	likely benign	7	135643366	135643366	Human		name
402503029	CV2879755	single nucleotide variant	NM_015135.3(NUP205):c.5684-4A>G	not provided [RCV003546102]	benign	7	135645464	135645464	Human		name
405051398	CV2883467	single nucleotide variant	NM_015135.3(NUP205):c.5559+7A>G	not provided [RCV003579814]	likely benign	7	135643365	135643365	Human		name
402505695	CV2884466	single nucleotide variant	NM_015135.3(NUP205):c.2513-4A>T	not provided [RCV003546340]	likely benign	7	135602801	135602801	Human		name
402496831	CV2895993	single nucleotide variant	NM_015135.3(NUP205):c.2375-8C>G	not provided [RCV003573587]	likely benign	7	135601362	135601362	Human		name
405258720	CV3194062	single nucleotide variant	NM_015135.3(NUP205):c.4479+9A>G	NUP205-related disorder [RCV003893644]\|not provided [RCV005101498]	likely benign	7	135622934	135622934	Human	1	name , trait , alternate_id
405267730	CV3219419	single nucleotide variant	NM_015135.3(NUP205):c.5813-4C>G	NUP205-related disorder [RCV003969650]	likely benign	7	135646154	135646154	Human		name , trait , alternate_id
407501273	CV3495584	single nucleotide variant	NM_015135.3(NUP205):c.1474-1G>T	not provided [RCV004697424]	uncertain significance	7	135591449	135591449	Human		name
597965932	CV3751458	single nucleotide variant	NM_015135.3(NUP205):c.3070+3A>G	not provided [RCV005082827]	uncertain significance	7	135606918	135606918	Human		name
597837708	CV3828780	single nucleotide variant	NM_015135.3(NUP205):c.3071-5T>C	not provided [RCV005171473]	likely benign	7	135607242	135607242	Human		name
597930460	CV3837576	single nucleotide variant	NM_015135.3(NUP205):c.3772-4T>A	not provided [RCV005185735]	likely benign	7	135618408	135618408	Human		name
597870116	CV3839344	single nucleotide variant	NM_015135.3(NUP205):c.489-13C>T	not provided [RCV005176455]	likely benign	7	135576956	135576956	Human		name
597953794	CV3844266	single nucleotide variant	NM_015135.3(NUP205):c.343+17C>G	not provided [RCV005190938]	likely benign	7	135573842	135573842	Human		name
150330935	CV1171667	single nucleotide variant	NM_015135.3(NUP205):c.171+227C>T	not provided [RCV001538375]	benign	7	135571474	135571474	Human		name
150332719	CV1171668	single nucleotide variant	NM_015135.3(NUP205):c.488+168T>C	not provided [RCV001539157]	benign	7	135576582	135576582	Human		name
150337345	CV1171670	duplication	NM_015135.3(NUP205):c.4793+57dup	not provided [RCV001541587]	benign	7	135626416	135626417	Human		name
150337662	CV1171671	single nucleotide variant	NM_015135.3(NUP205):c.5265+46T>C	not provided [RCV001541789]	benign	7	135638105	135638105	Human		name
150449286	CV1215087	deletion	NM_015135.3(NUP205):c.3532+60del	not provided [RCV001611677]	benign	7	135616774	135616774	Human		name
150467420	CV1220013	single nucleotide variant	NM_015135.3(NUP205):c.649-215T>C	not provided [RCV001614504]	benign	7	135577581	135577581	Human		name
150482436	CV1221053	single nucleotide variant	NM_015135.3(NUP205):c.1042+72A>G	not provided [RCV001617138]	benign	7	135578987	135578987	Human		name
150498054	CV1224072	single nucleotide variant	NM_015135.3(NUP205):c.5265+13T>C	not provided [RCV001620184]	benign	7	135638072	135638072	Human		name
150492169	CV1225423	single nucleotide variant	NM_015135.3(NUP205):c.5813-77C>A	not provided [RCV001618938]	benign	7	135646081	135646081	Human		name
150513666	CV1229097	single nucleotide variant	NM_015135.3(NUP205):c.3460+89T>C	not provided [RCV001637939]	benign	7	135616154	135616154	Human		name
150435644	CV1233916	single nucleotide variant	NM_015135.3(NUP205):c.4793+58G>A	not provided [RCV001644043]	benign	7	135626419	135626419	Human		name
150460643	CV1234669	single nucleotide variant	NM_015135.3(NUP205):c.1625-88T>C	not provided [RCV001649251]	benign	7	135592899	135592899	Human		name
150463028	CV1234997	single nucleotide variant	NM_015135.3(NUP205):c.1218+82T>C	not provided [RCV001649579]	benign	7	135585089	135585089	Human		name
150458352	CV1237204	single nucleotide variant	NM_015135.3(NUP205):c.5392+41G>T	not provided [RCV001648883]	benign	7	135638724	135638724	Human		name
150490186	CV1239069	single nucleotide variant	NM_015135.3(NUP205):c.2374+71T>C	not provided [RCV001654637]	benign	7	135601040	135601040	Human		name
150505761	CV1242047	deletion	NM_015135.3(NUP205):c.171+179del	not provided [RCV001658398]	benign	7	135571412	135571412	Human		name
150457955	CV1248861	single nucleotide variant	NM_015135.3(NUP205):c.2905+27C>T	not provided [RCV001669037]	benign	7	135606253	135606253	Human		name
150484634	CV1250065	single nucleotide variant	NM_015135.3(NUP205):c.3196-49G>A	not provided [RCV001673678]	benign	7	135614110	135614110	Human		name
150451666	CV1254857	single nucleotide variant	NM_015135.3(NUP205):c.343+197G>T	not provided [RCV001667916]	benign	7	135574022	135574022	Human		name
150469680	CV1259699	single nucleotide variant	NM_015135.3(NUP205):c.5393-87G>A	not provided [RCV001684000]	benign	7	135643105	135643105	Human		name
150441445	CV1265784	single nucleotide variant	NM_015135.3(NUP205):c.2065-48A>G	not provided [RCV001690509]	benign	7	135597950	135597950	Human		name
150442308	CV1266208	single nucleotide variant	NM_015135.3(NUP205):c.5137-15T>C	not provided [RCV001690643]	benign	7	135637916	135637916	Human		name
150438994	CV1266709	single nucleotide variant	NM_015135.3(NUP205):c.4671+23T>C	not provided [RCV001690144]	benign	7	135625378	135625378	Human		name
150492892	CV1267035	single nucleotide variant	NM_015135.3(NUP205):c.4793+11G>A	Nephrotic syndrome, type 13 [RCV001788782]\|not provided [RCV001688062]	benign	7	135626372	135626372	Human	1	name
150478345	CV1271042	duplication	NM_015135.3(NUP205):c.3532+60dup	not provided [RCV001696478]	benign	7	135616773	135616774	Human		name
150473116	CV1273314	single nucleotide variant	NM_015135.3(NUP205):c.343+105C>A	not provided [RCV001695655]	benign	7	135573930	135573930	Human		name
150464295	CV1276361	single nucleotide variant	NM_015135.3(NUP205):c.343+282A>G	not provided [RCV001710306]	benign	7	135574107	135574107	Human		name
150482777	CV1280057	single nucleotide variant	NM_015135.3(NUP205):c.1219-53T>C	not provided [RCV001715077]	benign	7	135587522	135587522	Human		name
150541675	CV1306499	single nucleotide variant	NM_015135.3(NUP205):c.2906-49G>A	not provided [RCV001768121]	likely benign	7	135606702	135606702	Human		name
150541732	CV1306522	single nucleotide variant	NM_015135.3(NUP205):c.1219-16C>G	not provided [RCV001768145]	benign\|likely benign	7	135587559	135587559	Human		name
150542740	CV1306593	single nucleotide variant	NM_015135.3(NUP205):c.171+121C>A	not provided [RCV001769657]	likely benign	7	135571368	135571368	Human		name
150535773	CV1307074	single nucleotide variant	NM_015135.3(NUP205):c.1335+30C>G	not provided [RCV001759129]	likely benign	7	135587721	135587721	Human		name
150535779	CV1307078	single nucleotide variant	NM_015135.3(NUP205):c.4671+55T>C	not provided [RCV001759133]	likely benign	7	135625410	135625410	Human		name
150535807	CV1307101	single nucleotide variant	NM_015135.3(NUP205):c.1625-71A>G	not provided [RCV001759156]	likely benign	7	135592916	135592916	Human		name
150545141	CV1307638	single nucleotide variant	NM_015135.3(NUP205):c.4232-11A>C	not provided [RCV001774916]	benign\|likely benign	7	135619779	135619779	Human		name
150542385	CV1307752	single nucleotide variant	NM_015135.3(NUP205):c.5136+72C>A	not provided [RCV001769527]	likely benign	7	135635729	135635729	Human		name
150542410	CV1307761	single nucleotide variant	NM_015135.3(NUP205):c.3311-69C>G	not provided [RCV001769536]	likely benign	7	135615847	135615847	Human		name
150542415	CV1307762	single nucleotide variant	NM_015135.3(NUP205):c.4231+21C>G	not provided [RCV001769537]	likely benign	7	135619711	135619711	Human		name
150539409	CV1308778	single nucleotide variant	NM_015135.3(NUP205):c.172-141G>C	not provided [RCV001766282]	likely benign	7	135573513	135573513	Human		name
150536106	CV1309133	duplication	NM_015135.3(NUP205):c.171+179dup	not provided [RCV001759340]	likely benign	7	135571411	135571412	Human		name
150532423	CV1309185	single nucleotide variant	NM_015135.3(NUP205):c.2275-39C>A	not provided [RCV001752866]	likely benign	7	135600831	135600831	Human		name
151889529	CV1436034	single nucleotide variant	NM_015135.3(NUP205):c.4330+10G>A	NUP205-related disorder [RCV003948847]\|not provided [RCV001963447]	likely benign	7	135619898	135619898	Human	1	name , trait , alternate_id
152097826	CV1531565	single nucleotide variant	NM_015135.3(NUP205):c.2824-10G>A	NUP205-related disorder [RCV003933688]\|not provided [RCV002213602]	likely benign	7	135606135	135606135	Human	1	name , trait , alternate_id
152172736	CV1641717	single nucleotide variant	NM_015135.3(NUP205):c.1625-19G>T	not provided [RCV002183942]	benign	7	135592968	135592968	Human		name
156392439	CV1869607	single nucleotide variant	NM_015135.3(NUP205):c.2064+18G>T	not provided [RCV003051475]	likely benign	7	135597436	135597436	Human		name
156055055	CV1869877	single nucleotide variant	NM_015135.3(NUP205):c.2824-12A>G	not provided [RCV003053133]	likely benign	7	135606133	135606133	Human		name
156374440	CV1871667	single nucleotide variant	NM_015135.3(NUP205):c.2014-18A>G	not provided [RCV003066584]	likely benign	7	135597350	135597350	Human		name
156374260	CV1875122	single nucleotide variant	NM_015135.3(NUP205):c.5684-18A>T	not provided [RCV003066568]	benign	7	135645450	135645450	Human		name
156069710	CV1893284	single nucleotide variant	NM_015135.3(NUP205):c.1335+20A>G	not provided [RCV003079499]	likely benign	7	135587711	135587711	Human		name
156379006	CV1927361	single nucleotide variant	NM_015135.3(NUP205):c.3533-11A>T	not provided [RCV002634114]	likely benign\|uncertain significance	7	135617079	135617079	Human		name
155935324	CV2063772	single nucleotide variant	NM_015135.3(NUP205):c.5560-10T>C	not provided [RCV002839035]	likely benign	7	135644885	135644885	Human		name
156020830	CV2174179	single nucleotide variant	NM_015135.3(NUP205):c.5560-20A>G	not provided [RCV003035722]	likely benign	7	135644875	135644875	Human		name
402491425	CV2877703	single nucleotide variant	NM_015135.3(NUP205):c.2702+18G>A	not provided [RCV003544982]	likely benign	7	135603012	135603012	Human		name
402494128	CV2887254	single nucleotide variant	NM_015135.3(NUP205):c.1625-20T>A	not provided [RCV003573315]	benign	7	135592967	135592967	Human		name
405224766	CV2887630	single nucleotide variant	NM_015135.3(NUP205):c.4672-10A>G	not provided [RCV003554335]	likely benign	7	135626230	135626230	Human		name
405246487	CV3048121	single nucleotide variant	NM_015135.3(NUP205):c.4232-10A>T	not provided [RCV003720550]	likely benign	7	135619780	135619780	Human		name
405229500	CV3065929	single nucleotide variant	NM_015135.3(NUP205):c.4672-15C>G	not provided [RCV003734520]	likely benign	7	135626225	135626225	Human		name
405234928	CV3071223	single nucleotide variant	NM_015135.3(NUP205):c.3772-13C>T	not provided [RCV003735713]	likely benign	7	135618399	135618399	Human		name
405025264	CV3075731	single nucleotide variant	NM_015135.3(NUP205):c.4330+15A>G	not provided [RCV003738640]	likely benign	7	135619903	135619903	Human		name
405235554	CV3079463	single nucleotide variant	NM_015135.3(NUP205):c.2703-18G>A	not provided [RCV003735829]	likely benign	7	135604322	135604322	Human		name
405145128	CV3141422	single nucleotide variant	NM_015135.3(NUP205):c.1624+18G>A	not provided [RCV003839538]	likely benign	7	135591618	135591618	Human		name
597848598	CV3746493	single nucleotide variant	NM_015135.3(NUP205):c.2374+16C>G	not provided [RCV005060312]	likely benign	7	135600985	135600985	Human		name
597879835	CV3763348	single nucleotide variant	NM_015135.3(NUP205):c.5887-20G>A	not provided [RCV005108943]	likely benign	7	135648384	135648384	Human		name
597923032	CV3839894	single nucleotide variant	NM_015135.3(NUP205):c.3771+10A>G	not provided [RCV005184633]	likely benign	7	135617692	135617692	Human		name
597856708	CV3849760	single nucleotide variant	NM_015135.3(NUP205):c.2905+13T>C	not provided [RCV005195269]	likely benign	7	135606239	135606239	Human		name
597868208	CV3858259	single nucleotide variant	NM_015135.3(NUP205):c.5059+13T>C	not provided [RCV005197002]	likely benign	7	135630483	135630483	Human		name
597924180	CV3863062	single nucleotide variant	NM_015135.3(NUP205):c.5392+13T>G	not provided [RCV005205550]	likely benign	7	135638696	135638696	Human		name
150331945	CV1163494	single nucleotide variant	NM_015135.3(NUP205):c.2512+226C>G	not provided [RCV001528014]	benign	7	135601733	135601733	Human		name
150331406	CV1163495	single nucleotide variant	NM_015135.3(NUP205):c.4330+194C>T	not provided [RCV001527788]	benign	7	135620082	135620082	Human		name
150514482	CV1212028	single nucleotide variant	NM_015135.3(NUP205):c.4331-232A>G	not provided [RCV001599097]	benign	7	135622545	135622545	Human		name
150500753	CV1213218	single nucleotide variant	NM_015135.3(NUP205):c.1624+137G>A	not provided [RCV001594630]	benign	7	135591737	135591737	Human		name
150505675	CV1213585	single nucleotide variant	NM_015135.3(NUP205):c.3460+202A>G	not provided [RCV001595841]	benign	7	135616267	135616267	Human		name
150464642	CV1215297	duplication	NM_015135.3(NUP205):c.5886+178dup	not provided [RCV001613996]	benign	7	135646398	135646399	Human		name
150497027	CV1219338	single nucleotide variant	NM_015135.3(NUP205):c.5683+212T>C	not provided [RCV001620007]	benign	7	135645230	135645230	Human		name
150456851	CV1219542	single nucleotide variant	NM_015135.3(NUP205):c.4672-128G>A	not provided [RCV001612757]	benign	7	135626112	135626112	Human		name
150455955	CV1220536	deletion	NM_015135.3(NUP205):c.1474-325del	not provided [RCV001612629]	benign	7	135591125	135591125	Human		name
150481749	CV1222217	single nucleotide variant	NM_015135.3(NUP205):c.5059+140A>T	not provided [RCV001617015]	benign	7	135630610	135630610	Human		name
150502189	CV1224423	single nucleotide variant	NM_015135.3(NUP205):c.2064+219A>G	not provided [RCV001621064]	benign	7	135597637	135597637	Human		name
150493825	CV1224481	deletion	NM_015135.3(NUP205):c.4793+220del	not provided [RCV001619257]	benign	7	135626579	135626579	Human		name
150507986	CV1227024	single nucleotide variant	NM_015135.3(NUP205):c.3195+160A>G	not provided [RCV001636097]	benign	7	135607531	135607531	Human		name
150516816	CV1227255	single nucleotide variant	NM_015135.3(NUP205):c.4794-149G>A	not provided [RCV001639355]	benign	7	135627824	135627824	Human		name
150430024	CV1231900	single nucleotide variant	NM_015135.3(NUP205):c.5392+177C>A	not provided [RCV001641161]	benign	7	135638860	135638860	Human		name
150441965	CV1233622	single nucleotide variant	NM_015135.3(NUP205):c.5393-305T>A	not provided [RCV001645310]	benign	7	135642887	135642887	Human		name
150497853	CV1236428	deletion	NM_015135.3(NUP205):c.2824-276del	not provided [RCV001656153]	benign	7	135605854	135605854	Human		name
150468074	CV1240985	single nucleotide variant	NM_015135.3(NUP205):c.1473+200G>A	not provided [RCV001650443]	benign	7	135588192	135588192	Human		name
150502826	CV1241657	single nucleotide variant	NM_015135.3(NUP205):c.2905+182A>G	not provided [RCV001657248]	benign	7	135606408	135606408	Human		name
150503409	CV1241800	single nucleotide variant	NM_015135.3(NUP205):c.3460+248T>C	not provided [RCV001657391]	benign	7	135616313	135616313	Human		name
150505903	CV1242082	duplication	NM_015135.3(NUP205):c.5266-125dup	not provided [RCV001658433]	benign	7	135638414	135638415	Human		name
150442211	CV1246855	single nucleotide variant	NM_015135.3(NUP205):c.5265+235T>G	not provided [RCV001666509]	benign	7	135638294	135638294	Human		name
150509726	CV1247393	single nucleotide variant	NM_015135.3(NUP205):c.5886+138T>C	not provided [RCV001659420]	benign	7	135646369	135646369	Human		name
150510022	CV1248474	single nucleotide variant	NM_015135.3(NUP205):c.5560-317A>C	not provided [RCV001659542]	benign	7	135644578	135644578	Human		name
150442900	CV1249195	single nucleotide variant	NM_015135.3(NUP205):c.1473+322T>C	not provided [RCV001666627]	benign	7	135588314	135588314	Human	3	name
150442900	CV1249195	single nucleotide variant	NM_015135.3(NUP205):c.1473+322T>C	not provided [RCV001666627]	benign	7	135588314	135588315	Human	3	name
150477784	CV1252067	single nucleotide variant	NM_015135.3(NUP205):c.5559+148C>T	not provided [RCV001672267]	benign	7	135643506	135643506	Human		name
150460547	CV1253123	single nucleotide variant	NM_015135.3(NUP205):c.5392+145G>A	not provided [RCV001669452]	benign	7	135638828	135638828	Human		name
150498553	CV1255598	single nucleotide variant	NM_015135.3(NUP205):c.3771+245T>G	not provided [RCV001676386]	benign	7	135617927	135617927	Human		name
150501744	CV1256384	duplication	NM_015135.3(NUP205):c.1042+296dup	not provided [RCV001677008]	benign	7	135579197	135579198	Human		name
150481900	CV1258999	single nucleotide variant	NM_015135.3(NUP205):c.4793+252G>A	not provided [RCV001686129]	benign	7	135626613	135626613	Human		name
150455043	CV1261088	single nucleotide variant	NM_015135.3(NUP205):c.2014-207C>T	not provided [RCV001681286]	benign	7	135597161	135597161	Human		name
150482057	CV1261556	single nucleotide variant	NM_015135.3(NUP205):c.4794-254C>G	not provided [RCV001686159]	benign	7	135627719	135627719	Human		name
150477117	CV1262456	deletion	NM_015135.3(NUP205):c.5266-125del	not provided [RCV001685269]	benign	7	135638415	135638415	Human		name
150474124	CV1263310	single nucleotide variant	NM_015135.3(NUP205):c.4671+102A>G	not provided [RCV001684832]	benign	7	135625457	135625457	Human		name
150438316	CV1264806	single nucleotide variant	NM_015135.3(NUP205):c.1042+269C>T	not provided [RCV001678799]	benign	7	135579184	135579184	Human		name
150458457	CV1265135	deletion	NM_015135.3(NUP205):c.5559+312del	not provided [RCV001681768]	benign	7	135643661	135643661	Human		name
150439924	CV1266844	single nucleotide variant	NM_015135.3(NUP205):c.1625-109C>G	not provided [RCV001690280]	benign	7	135592878	135592878	Human		name
150467232	CV1269196	single nucleotide variant	NM_015135.3(NUP205):c.3310+307G>A	not provided [RCV001694604]	benign	7	135614580	135614580	Human		name
150449782	CV1273678	single nucleotide variant	NM_015135.3(NUP205):c.5887-328C>T	not provided [RCV001691778]	benign	7	135648076	135648076	Human		name
150461409	CV1275950	single nucleotide variant	NM_015135.3(NUP205):c.2823+220T>C	not provided [RCV001709888]	benign	7	135604680	135604680	Human		name
150437766	CV1286598	single nucleotide variant	NM_015135.3(NUP205):c.5887-124A>G	not provided [RCV001724677]	benign	7	135648280	135648280	Human		name
150437809	CV1286606	single nucleotide variant	NM_015135.3(NUP205):c.5886+103G>A	not provided [RCV001724685]	benign	7	135646334	135646334	Human		name
150541485	CV1306381	single nucleotide variant	NM_015135.3(NUP205):c.5393-200T>C	not provided [RCV001768003]	likely benign	7	135642992	135642992	Human		name
150541550	CV1306443	single nucleotide variant	NM_015135.3(NUP205):c.3772-183C>T	not provided [RCV001768065]	likely benign	7	135618229	135618229	Human		name
150541788	CV1306553	single nucleotide variant	NM_015135.3(NUP205):c.4672-188G>T	not provided [RCV001768176]	likely benign	7	135626052	135626052	Human		name
150535003	CV1306756	single nucleotide variant	NM_015135.3(NUP205):c.3691-170A>G	not provided [RCV001757754]	likely benign	7	135617432	135617432	Human		name
150535759	CV1307063	single nucleotide variant	NM_015135.3(NUP205):c.3196-101C>T	not provided [RCV001759118]	likely benign	7	135614058	135614058	Human		name
150535775	CV1307075	single nucleotide variant	NM_015135.3(NUP205):c.2275-134T>C	not provided [RCV001759130]	likely benign	7	135600736	135600736	Human		name
150535777	CV1307076	single nucleotide variant	NM_015135.3(NUP205):c.3196-262A>G	not provided [RCV001759131]	likely benign	7	135613897	135613897	Human		name
150535805	CV1307099	single nucleotide variant	NM_015135.3(NUP205):c.4932+122C>A	not provided [RCV001759154]	likely benign	7	135628233	135628233	Human		name
150545085	CV1307604	single nucleotide variant	NM_015135.3(NUP205):c.3311-293C>T	not provided [RCV001774882]	likely benign	7	135615623	135615623	Human		name
150542690	CV1307862	single nucleotide variant	NM_015135.3(NUP205):c.3311-208C>T	not provided [RCV001769637]	likely benign	7	135615708	135615708	Human		name
150532696	CV1308067	deletion	NM_015135.3(NUP205):c.2275-205del	not provided [RCV001753057]	likely benign	7	135600662	135600662	Human		name
150532698	CV1308069	single nucleotide variant	NM_015135.3(NUP205):c.4794-289A>T	not provided [RCV001753059]	likely benign	7	135627684	135627684	Human		name
150539402	CV1308763	single nucleotide variant	NM_015135.3(NUP205):c.1625-277A>G	not provided [RCV001766267]	likely benign	7	135592710	135592710	Human		name
150539414	CV1308790	single nucleotide variant	NM_015135.3(NUP205):c.3691-135A>G	not provided [RCV001766294]	likely benign	7	135617467	135617467	Human		name
150543204	CV1308898	deletion	NM_015135.3(NUP205):c.2702+100del	not provided [RCV001769811]	likely benign	7	135603086	135603086	Human		name
150543343	CV1308947	single nucleotide variant	NM_015135.3(NUP205):c.1474-223T>A	not provided [RCV001769860]	likely benign	7	135591227	135591227	Human		name
150536056	CV1309109	single nucleotide variant	NM_015135.3(NUP205):c.4672-176A>C	not provided [RCV001759316]	likely benign	7	135626064	135626064	Human		name
150532437	CV1309193	single nucleotide variant	NM_015135.3(NUP205):c.2013+106A>G	not provided [RCV001752874]	likely benign	7	135594835	135594835	Human		name
597922172	CV3843201	deletion	NM_015135.3(NUP205):c.28+20_28+23del	not provided [RCV005184493]	likely benign	7	135557989	135557992	Human		name
150543232	CV1308909	microsatellite	NM_015135.3(NUP205):c.29-247ATATAA[3]	not provided [RCV001769822]	likely benign	7	135570857	135570858	Human		name
150472696	CV1235101	duplication	NM_015135.3(NUP205):c.29-228_29-200dup	not provided [RCV001651470]	benign	7	135570871	135570872	Human		name
156359331	CV1873989	single nucleotide variant	NM_015135.3(NUP205):c.5C>G (p.Ala2Gly)	not provided [RCV003065497]	uncertain significance	7	135557949	135557949	Human		name
405242408	CV3042767	single nucleotide variant	NM_015135.3(NUP205):c.75A>G (p.Gly25=)	not provided [RCV003719483]	likely benign	7	135571151	135571151	Human		name
405090670	CV3044798	single nucleotide variant	NM_015135.3(NUP205):c.57C>T (p.Asp19=)	not provided [RCV003717795]	likely benign	7	135571133	135571133	Human		name
405211490	CV3062962	deletion	NM_015135.3(NUP205):c.1219-9_1219-4del	not provided [RCV003732075]	likely benign	7	135587563	135587568	Human		name
407522021	CV3462418	single nucleotide variant	NM_015135.3(NUP205):c.5C>T (p.Ala2Val)	not specified [RCV004652717]	uncertain significance	7	135557949	135557949	Human		name
597950295	CV3846784	single nucleotide variant	NM_015135.3(NUP205):c.39A>G (p.Leu13=)	not provided [RCV005189955]	likely benign	7	135571115	135571115	Human		name
152127304	CV1615227	single nucleotide variant	NM_015135.3(NUP205):c.11C>T (p.Pro4Leu)	NUP205-related disorder [RCV003913780]\|not provided [RCV002082393]	benign\|likely benign	7	135557955	135557955	Human	1	name , trait , alternate_id
156114410	CV1985873	single nucleotide variant	NM_015135.3(NUP205):c.222A>C (p.Gly74=)	not provided [RCV002622704]	likely benign	7	135573704	135573704	Human		name
156024294	CV2105992	single nucleotide variant	NM_015135.3(NUP205):c.153C>T (p.Ile51=)	NUP205-related disorder [RCV003906347]\|not provided [RCV002923218]	likely benign	7	135571229	135571229	Human	1	name , trait , alternate_id
156238810	CV2193666	single nucleotide variant	NM_015135.3(NUP205):c.25T>A (p.Ser9Thr)	not specified [RCV004074263]	uncertain significance	7	135557969	135557969	Human		name
405231936	CV2896203	single nucleotide variant	NM_015135.3(NUP205):c.225C>T (p.Val75=)	not provided [RCV003555664]	likely benign	7	135573707	135573707	Human		name
150479291	CV1258230	duplication	NM_015135.3(NUP205):c.4933-37_4933-36dup	not provided [RCV001685648]	benign	7	135630306	135630307	Human		name
152096553	CV1597504	variation	NM_015135.3(NUP205):c.4066= (p.Glu1356=)	not provided [RCV002114772]	benign	7	135619525	135619525	Human		name
152046405	CV1600345	single nucleotide variant	NM_015135.3(NUP205):c.552T>C (p.Tyr184=)	not provided [RCV002088598]	likely benign	7	135577032	135577032	Human		name
152131827	CV1633222	single nucleotide variant	NM_015135.3(NUP205):c.333T>G (p.Leu111=)	not provided [RCV002137023]	likely benign	7	135573815	135573815	Human		name
156162509	CV1872419	single nucleotide variant	NM_015135.3(NUP205):c.690A>G (p.Glu230=)	not provided [RCV003056957]	likely benign	7	135577837	135577837	Human		name
156407911	CV1873103	deletion	NM_015135.3(NUP205):c.1219-17_1219-14del	not provided [RCV003071067]	likely benign	7	135587556	135587559	Human		name
156243843	CV1893939	single nucleotide variant	NM_015135.3(NUP205):c.681T>C (p.Ser227=)	not provided [RCV003085847]	likely benign	7	135577828	135577828	Human		name
156380248	CV1927485	duplication	NM_015135.3(NUP205):c.4932+17_4932+18dup	not provided [RCV002634212]	benign	7	135628126	135628127	Human		name
156340433	CV2268112	single nucleotide variant	NM_015135.3(NUP205):c.37C>G (p.Leu13Val)	not specified [RCV004138436]	uncertain significance	7	135571113	135571113	Human		name
402505696	CV2927766	deletion	NM_015135.3(NUP205):c.1335+18_1335+21del	not provided [RCV003574432]	likely benign	7	135587707	135587710	Human		name
405246472	CV3048117	deletion	NM_015135.3(NUP205):c.4232-14_4232-11del	not provided [RCV003720547]	likely benign	7	135619776	135619779	Human		name
405004848	CV3120846	single nucleotide variant	NM_015135.3(NUP205):c.495G>A (p.Glu165=)	not provided [RCV003828449]	likely benign	7	135576975	135576975	Human		name
405267325	CV3205561	single nucleotide variant	NM_015135.3(NUP205):c.921T>A (p.Ile307=)	NUP205-related disorder [RCV003947382]	likely benign	7	135578794	135578794	Human		name , trait , alternate_id
405290318	CV3219925	deletion	NM_015135.3(NUP205):c.4232-11_4232-10del	NUP205-related disorder [RCV003962278]	likely benign	7	135619779	135619780	Human		name , trait , alternate_id
597663651	CV3569939	single nucleotide variant	NM_015135.3(NUP205):c.43G>A (p.Gly15Ser)	not specified [RCV004835376]	uncertain significance	7	135571119	135571119	Human		name
597902868	CV3845878	deletion	NM_015135.3(NUP205):c.1218+11_1218+14del	not provided [RCV005181500]	likely benign	7	135585018	135585021	Human		name
15169767	CV699863	single nucleotide variant	NM_015135.3(NUP205):c.786C>T (p.Gly262=)	not provided [RCV000949523]	benign\|likely benign	7	135577933	135577933	Human		name
15185950	CV699864	single nucleotide variant	NM_015135.3(NUP205):c.789A>G (p.Ser263=)	not provided [RCV000953136]	benign\|likely benign	7	135577936	135577936	Human		name
15130330	CV710795	single nucleotide variant	NM_015135.3(NUP205):c.606A>G (p.Leu202=)	not provided [RCV000964417]	benign\|likely benign	7	135577086	135577086	Human		name
150331291	CV1169224	single nucleotide variant	NM_015135.3(NUP205):c.2427G>A (p.Leu809=)	not provided [RCV001536417]	benign	7	135601422	135601422	Human		name
150472474	CV1217186	single nucleotide variant	NM_015135.3(NUP205):c.1851A>C (p.Ala617=)	Nephrotic syndrome, type 13 [RCV001788600]\|not provided [RCV001615481]	benign	7	135594567	135594567	Human	1	name
151778190	CV1380019	single nucleotide variant	NM_015135.3(NUP205):c.2391C>G (p.Ala797=)	not provided [RCV001950811]	likely benign	7	135601386	135601386	Human		name
151864400	CV1416495	single nucleotide variant	NM_015135.3(NUP205):c.170C>T (p.Pro57Leu)	not provided [RCV001997553]	uncertain significance	7	135571246	135571246	Human		name
151798800	CV1445816	single nucleotide variant	NM_015135.3(NUP205):c.281C>G (p.Ala94Gly)	NUP205-related disorder [RCV003978458]\|not provided [RCV002011372]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	135573763	135573763	Human	1	name , trait , alternate_id
152062019	CV1558455	single nucleotide variant	NM_015135.3(NUP205):c.1905A>G (p.Gln635=)	NUP205-related disorder [RCV004757526]\|not provided [RCV002128445]	likely benign	7	135594621	135594621	Human	1	name , trait , alternate_id
156161928	CV1872379	single nucleotide variant	NM_015135.3(NUP205):c.189G>C (p.Gln63His)	not provided [RCV003056937]	uncertain significance	7	135573671	135573671	Human		name
156384135	CV1883409	single nucleotide variant	NM_015135.3(NUP205):c.1878T>G (p.Pro626=)	not provided [RCV003093537]	likely benign	7	135594594	135594594	Human		name
156388366	CV1888308	single nucleotide variant	NM_015135.3(NUP205):c.1950C>T (p.Leu650=)	not provided [RCV003067756]	likely benign	7	135594666	135594666	Human		name
156404652	CV1898348	single nucleotide variant	NM_015135.3(NUP205):c.1980T>G (p.Ala660=)	not provided [RCV002585456]	likely benign	7	135594696	135594696	Human		name
156345135	CV1907797	single nucleotide variant	NM_015135.3(NUP205):c.2199C>T (p.Asp733=)	not provided [RCV003090591]	likely benign	7	135598132	135598132	Human		name
156405027	CV1919155	single nucleotide variant	NM_015135.3(NUP205):c.1086C>G (p.Leu362=)	not provided [RCV002585558]	likely benign	7	135584875	135584875	Human		name
156128617	CV1927475	single nucleotide variant	NM_015135.3(NUP205):c.1047G>A (p.Leu349=)	not provided [RCV002640622]	likely benign	7	135584836	135584836	Human		name
156156807	CV1957854	single nucleotide variant	NM_015135.3(NUP205):c.2007C>T (p.Tyr669=)	not provided [RCV002573082]	likely benign	7	135594723	135594723	Human		name
156229598	CV2027941	single nucleotide variant	NM_015135.3(NUP205):c.2229G>A (p.Val743=)	not provided [RCV002745255]	likely benign	7	135598162	135598162	Human		name
156331174	CV2094812	single nucleotide variant	NM_015135.3(NUP205):c.1515G>A (p.Leu505=)	NUP205-related disorder [RCV003961154]\|not provided [RCV002899933]	benign\|likely benign	7	135591491	135591491	Human	1	name , trait , alternate_id
156368366	CV2113249	single nucleotide variant	NM_015135.3(NUP205):c.112C>T (p.Leu38Phe)	not provided [RCV002942130]	uncertain significance	7	135571188	135571188	Human		name
155934260	CV2114003	single nucleotide variant	NM_015135.3(NUP205):c.1131G>T (p.Val377=)	NUP205-related disorder [RCV003906308]\|not provided [RCV002904015]	likely benign	7	135584920	135584920	Human	1	name , trait , alternate_id
156228339	CV2115559	single nucleotide variant	NM_015135.3(NUP205):c.2436G>A (p.Glu812=)	not provided [RCV002918837]	likely benign	7	135601431	135601431	Human		name
156303172	CV2129607	single nucleotide variant	NM_015135.3(NUP205):c.1608C>T (p.Val536=)	not provided [RCV002962237]	benign	7	135591584	135591584	Human		name
405132252	CV2962412	single nucleotide variant	NM_015135.3(NUP205):c.1131G>A (p.Val377=)	not provided [RCV003668347]	likely benign	7	135584920	135584920	Human		name
405168545	CV3029115	single nucleotide variant	NM_015135.3(NUP205):c.2709A>G (p.Leu903=)	not provided [RCV003704500]	benign	7	135604346	135604346	Human		name
405236399	CV3071409	single nucleotide variant	NM_015135.3(NUP205):c.1045C>T (p.Leu349=)	not provided [RCV003735794]	likely benign	7	135584834	135584834	Human		name
405047487	CV3071455	single nucleotide variant	NM_015135.3(NUP205):c.2802T>C (p.Val934=)	not provided [RCV003740228]	likely benign	7	135604439	135604439	Human		name
405229681	CV3072843	single nucleotide variant	NM_015135.3(NUP205):c.1446G>A (p.Val482=)	not provided [RCV003734653]	likely benign	7	135587965	135587965	Human		name
405230795	CV3073399	single nucleotide variant	NM_015135.3(NUP205):c.1341C>T (p.Gly447=)	not provided [RCV003734861]	likely benign	7	135587860	135587860	Human		name
405223910	CV3151137	single nucleotide variant	NM_015135.3(NUP205):c.1851A>T (p.Ala617=)	not provided [RCV003847562]	likely benign	7	135594567	135594567	Human		name
405279271	CV3206252	single nucleotide variant	NM_015135.3(NUP205):c.1002G>A (p.Ala334=)	NUP205-related disorder [RCV003954914]	likely benign	7	135578875	135578875	Human		name , trait , alternate_id
597663557	CV3569924	single nucleotide variant	NM_015135.3(NUP205):c.149T>A (p.Phe50Tyr)	not specified [RCV004835364]	uncertain significance	7	135571225	135571225	Human		name
597873053	CV3769820	single nucleotide variant	NM_015135.3(NUP205):c.1017A>G (p.Gly339=)	not provided [RCV005108078]	likely benign	7	135578890	135578890	Human		name
597961027	CV3840391	single nucleotide variant	NM_015135.3(NUP205):c.2025C>T (p.Thr675=)	not provided [RCV005192875]	likely benign	7	135597379	135597379	Human		name
598234836	CV4004715	single nucleotide variant	NM_015135.3(NUP205):c.212G>C (p.Ser71Thr)	not specified [RCV005381925]	uncertain significance	7	135573694	135573694	Human		name
15161954	CV710796	single nucleotide variant	NM_015135.3(NUP205):c.1818C>T (p.Thr606=)	not provided [RCV000970182]	benign\|likely benign	7	135593180	135593180	Human		name
15127379	CV710797	single nucleotide variant	NM_015135.3(NUP205):c.2428C>T (p.Leu810=)	NUP205-related disorder [RCV003960750]\|not provided [RCV000963893]	benign\|likely benign	7	135601423	135601423	Human	1	name , trait , alternate_id
15168386	CV722339	single nucleotide variant	NM_015135.3(NUP205):c.1101C>T (p.Asn367=)	not provided [RCV000883053]	benign\|likely benign	7	135584890	135584890	Human		name
15185062	CV722340	single nucleotide variant	NM_015135.3(NUP205):c.2364G>A (p.Val788=)	not provided [RCV000886594]	benign	7	135600959	135600959	Human		name
15119828	CV735968	single nucleotide variant	NM_015135.3(NUP205):c.1224A>G (p.Lys408=)	not provided [RCV000895792]	benign	7	135587580	135587580	Human		name
15127201	CV766120	single nucleotide variant	NM_015135.3(NUP205):c.1383A>G (p.Leu461=)	not provided [RCV000941506]	likely benign	7	135587902	135587902	Human		name
15111087	CV766121	single nucleotide variant	NM_015135.3(NUP205):c.1461C>G (p.Pro487=)	not provided [RCV000938682]	likely benign	7	135587980	135587980	Human		name
150510541	CV1211757	duplication	NM_015135.3(NUP205):c.1474-195_1474-193dup	not provided [RCV001597652]	benign	7	135591253	135591254	Human		name
150473038	CV1217562	insertion	NM_015135.3(NUP205):c.29-153_29-152insGTTA	not provided [RCV001615573]	benign	7	135570950	135570951	Human		name
150475368	CV1237784	duplication	NM_015135.3(NUP205):c.5266-127_5266-125dup	not provided [RCV001651905]	benign	7	135638414	135638415	Human		name
150479471	CV1239390	single nucleotide variant	NM_015135.3(NUP205):c.5907C>T (p.Asn1969=)	not provided [RCV001652553]	benign	7	135648424	135648424	Human		name
150478164	CV1240147	single nucleotide variant	NM_015135.3(NUP205):c.5607T>C (p.Ala1869=)	not provided [RCV001652325]	benign	7	135644942	135644942	Human		name
150511128	CV1242614	duplication	NM_015135.3(NUP205):c.1042+295_1042+296dup	not provided [RCV001660966]	benign	7	135579197	135579198	Human		name
150477873	CV1272114	single nucleotide variant	NM_015135.3(NUP205):c.3174G>A (p.Gln1058=)	not provided [RCV001696400]	benign	7	135607350	135607350	Human		name
150535632	CV1306908	duplication	NM_015135.3(NUP205):c.5266-128_5266-125dup	not provided [RCV001758962]	likely benign	7	135638414	135638415	Human		name
150556889	CV1307603	single nucleotide variant	NM_015135.3(NUP205):c.4008C>T (p.Ala1336=)	not provided [RCV001774881]	benign\|likely benign	7	135619467	135619467	Human		name
150556890	CV1307605	single nucleotide variant	NM_015135.3(NUP205):c.3156G>A (p.Ala1052=)	not provided [RCV001774883]	benign\|likely benign	7	135607332	135607332	Human		name
151780629	CV1356048	single nucleotide variant	NM_015135.3(NUP205):c.579T>G (p.Ile193Met)	not provided [RCV002046132]\|not specified [RCV004044718]	uncertain significance	7	135577059	135577059	Human		name
151759304	CV1443777	single nucleotide variant	NM_015135.3(NUP205):c.646G>C (p.Glu216Gln)	not provided [RCV001873050]	uncertain significance	7	135577126	135577126	Human		name
151800624	CV1509516	single nucleotide variant	NM_015135.3(NUP205):c.461G>A (p.Arg154Gln)	not provided [RCV001867093]	uncertain significance	7	135576387	135576387	Human		name
152160587	CV1601674	single nucleotide variant	NM_015135.3(NUP205):c.4149C>T (p.Asn1383=)	not provided [RCV002180861]	benign	7	135619608	135619608	Human	4	name
156382626	CV1870424	single nucleotide variant	NM_015135.3(NUP205):c.3984G>T (p.Ala1328=)	not provided [RCV003067297]	likely benign	7	135619443	135619443	Human		name
156407855	CV1873054	single nucleotide variant	NM_015135.3(NUP205):c.615G>C (p.Glu205Asp)	not provided [RCV003071042]	uncertain significance	7	135577095	135577095	Human		name
156115266	CV1881020	single nucleotide variant	NM_015135.3(NUP205):c.4575C>T (p.Leu1525=)	not provided [RCV003081212]	likely benign	7	135625259	135625259	Human		name
156404660	CV1883469	single nucleotide variant	NM_015135.3(NUP205):c.4725A>G (p.Arg1575=)	not provided [RCV003069793]	likely benign	7	135626293	135626293	Human		name
155989644	CV1894230	single nucleotide variant	NM_015135.3(NUP205):c.3465T>G (p.Gly1155=)	not provided [RCV003076054]	likely benign	7	135616659	135616659	Human		name
156049544	CV1923846	single nucleotide variant	NM_015135.3(NUP205):c.3558T>C (p.Leu1186=)	not provided [RCV002637886]	benign	7	135617115	135617115	Human		name
156309989	CV1928304	single nucleotide variant	NM_015135.3(NUP205):c.4404C>G (p.Ala1468=)	not provided [RCV002648103]	likely benign	7	135622850	135622850	Human		name
156375150	CV1930388	single nucleotide variant	NM_015135.3(NUP205):c.3984G>A (p.Ala1328=)	not provided [RCV002633765]	likely benign	7	135619443	135619443	Human		name
156173078	CV1956382	single nucleotide variant	NM_015135.3(NUP205):c.5790G>A (p.Leu1930=)	not provided [RCV002573871]	likely benign	7	135645574	135645574	Human		name
156377364	CV1956842	single nucleotide variant	NM_015135.3(NUP205):c.5994T>A (p.Ala1998=)	not provided [RCV002582912]	likely benign	7	135648511	135648511	Human		name
156321548	CV2014545	single nucleotide variant	NM_015135.3(NUP205):c.770C>A (p.Thr257Lys)	not provided [RCV002672227]	uncertain significance	7	135577917	135577917	Human		name
156122207	CV2015998	single nucleotide variant	NM_015135.3(NUP205):c.610C>T (p.Arg204Ter)	not provided [RCV002696080]	uncertain significance	7	135577090	135577090	Human		name
156031351	CV2036938	single nucleotide variant	NM_015135.3(NUP205):c.4959T>C (p.Ser1653=)	not provided [RCV002781124]	likely benign	7	135630370	135630370	Human		name
156344291	CV2051751	deletion	NM_015135.3(NUP205):c.2488del (p.Asp831fs)	not provided [RCV002811372]	uncertain significance	7	135601483	135601483	Human		name
156293370	CV2073343	single nucleotide variant	NM_015135.3(NUP205):c.548C>T (p.Thr183Ile)	not provided [RCV002833296]	uncertain significance	7	135577028	135577028	Human		name
156198779	CV2092395	single nucleotide variant	NM_015135.3(NUP205):c.4818A>C (p.Pro1606=)	not provided [RCV002917711]	likely benign	7	135627997	135627997	Human		name
156082614	CV2098759	single nucleotide variant	NM_015135.3(NUP205):c.4491G>T (p.Leu1497=)	not provided [RCV002912753]	likely benign	7	135625175	135625175	Human		name
156290122	CV2111325	single nucleotide variant	NM_015135.3(NUP205):c.4782G>A (p.Thr1594=)	not provided [RCV002922117]	benign	7	135626350	135626350	Human		name
156333389	CV2112892	single nucleotide variant	NM_015135.3(NUP205):c.3855G>A (p.Ser1285=)	NUP205-related disorder [RCV003926546]\|not provided [RCV002938491]	likely benign	7	135618495	135618495	Human	1	name , trait , alternate_id
156329210	CV2116331	single nucleotide variant	NM_015135.3(NUP205):c.3699T>C (p.His1233=)	not provided [RCV002938269]	likely benign	7	135617610	135617610	Human		name
156312510	CV2120108	single nucleotide variant	NM_015135.3(NUP205):c.617G>A (p.Arg206Lys)	not provided [RCV002962702]	uncertain significance	7	135577097	135577097	Human		name
155946764	CV2130287	single nucleotide variant	NM_015135.3(NUP205):c.5394T>C (p.Asp1798=)	not provided [RCV002971626]	likely benign	7	135643193	135643193	Human		name
156271804	CV2135373	single nucleotide variant	NM_015135.3(NUP205):c.3031T>C (p.Leu1011=)	not provided [RCV002988847]	likely benign	7	135606876	135606876	Human		name
156235750	CV2173349	single nucleotide variant	NM_015135.3(NUP205):c.793G>C (p.Asp265His)	not provided [RCV003059477]	uncertain significance	7	135577940	135577940	Human		name
156374533	CV2190854	single nucleotide variant	NM_015135.3(NUP205):c.3360C>T (p.Ala1120=)	not provided [RCV003049987]	likely benign	7	135615965	135615965	Human		name
156277264	CV2277007	single nucleotide variant	NM_015135.3(NUP205):c.670T>C (p.Cys224Arg)	not specified [RCV004140331]	uncertain significance	7	135577817	135577817	Human		name
156047060	CV2304316	single nucleotide variant	NM_015135.3(NUP205):c.620G>T (p.Gly207Val)	not specified [RCV004164436]	uncertain significance	7	135577100	135577100	Human		name
156050371	CV2323273	single nucleotide variant	NM_015135.3(NUP205):c.818T>C (p.Met273Thr)	not specified [RCV004171692]	uncertain significance	7	135577965	135577965	Human		name
155989356	CV2371932	single nucleotide variant	NM_015135.3(NUP205):c.514C>T (p.Arg172Cys)	not specified [RCV004221615]	uncertain significance	7	135576994	135576994	Human		name
243057553	CV2408406	single nucleotide variant	NM_015135.3(NUP205):c.821C>T (p.Ala274Val)	Nephrotic syndrome, type 13 [RCV003133094]	uncertain significance	7	135577968	135577968	Human	1	name
329365884	CV2441202	single nucleotide variant	NM_015135.3(NUP205):c.974T>A (p.Leu325His)	not specified [RCV004263598]	uncertain significance	7	135578847	135578847	Human		name
401922765	CV2823176	single nucleotide variant	NM_015135.3(NUP205):c.3888T>C (p.Ala1296=)	not provided [RCV003434139]	likely benign	7	135618528	135618528	Human		name
405071317	CV2876561	single nucleotide variant	NM_015135.3(NUP205):c.3057C>T (p.Asn1019=)	not provided [RCV003548549]	likely benign	7	135606902	135606902	Human		name
402503016	CV2879754	single nucleotide variant	NM_015135.3(NUP205):c.5325C>T (p.Phe1775=)	not provided [RCV003546101]	benign	7	135638616	135638616	Human		name
405157889	CV2890883	single nucleotide variant	NM_015135.3(NUP205):c.3855G>T (p.Ser1285=)	not provided [RCV003562106]	likely benign	7	135618495	135618495	Human		name
405163022	CV2895499	single nucleotide variant	NM_015135.3(NUP205):c.4788G>A (p.Pro1596=)	NUP205-related disorder [RCV003901191]\|not provided [RCV003562528]	likely benign	7	135626356	135626356	Human	1	name , trait , alternate_id
405111998	CV2903367	single nucleotide variant	NM_015135.3(NUP205):c.5493C>T (p.Asp1831=)	not provided [RCV003558012]	likely benign	7	135643292	135643292	Human		name
405233058	CV2906630	single nucleotide variant	NM_015135.3(NUP205):c.5949A>G (p.Glu1983=)	not provided [RCV003555824]	likely benign	7	135648466	135648466	Human		name
402477630	CV2914394	single nucleotide variant	NM_015135.3(NUP205):c.490C>T (p.Pro164Ser)	NUP205-related disorder [RCV003919301]\|Nephrotic syndrome, type 13 [RCV004558162]\|not provided [RCV003571693]	likely benign\|uncertain significance	7	135576970	135576970	Human	1	name , trait , alternate_id
405205245	CV2916185	single nucleotide variant	NM_015135.3(NUP205):c.3009T>C (p.Ala1003=)	not provided [RCV003566414]	benign	7	135606854	135606854	Human		name
402487469	CV2928551	single nucleotide variant	NM_015135.3(NUP205):c.5337G>A (p.Val1779=)	not provided [RCV003572675]	likely benign	7	135638628	135638628	Human		name
404998724	CV3008914	single nucleotide variant	NM_015135.3(NUP205):c.5871A>G (p.Gln1957=)	not provided [RCV003692964]	likely benign	7	135646216	135646216	Human		name
405078617	CV3050196	single nucleotide variant	NM_015135.3(NUP205):c.5697C>T (p.Thr1899=)	not provided [RCV003716959]	likely benign	7	135645481	135645481	Human		name
405147982	CV3067461	single nucleotide variant	NM_015135.3(NUP205):c.4833C>T (p.Thr1611=)	not provided [RCV003726204]	likely benign	7	135628012	135628012	Human		name
405032267	CV3074949	single nucleotide variant	NM_015135.3(NUP205):c.4422C>T (p.Gly1474=)	not provided [RCV003739237]	likely benign	7	135622868	135622868	Human		name
405028221	CV3076249	single nucleotide variant	NM_015135.3(NUP205):c.5286A>G (p.Glu1762=)	not provided [RCV003738944]	likely benign	7	135638577	135638577	Human		name
405009477	CV3127939	single nucleotide variant	NM_015135.3(NUP205):c.5808G>A (p.Leu1936=)	not provided [RCV003828819]	likely benign	7	135645592	135645592	Human		name
405264023	CV3189909	single nucleotide variant	NM_015135.3(NUP205):c.938G>A (p.Arg313His)	NUP205-related disorder [RCV003896956]	likely benign	7	135578811	135578811	Human		name , trait , alternate_id
405260205	CV3190313	single nucleotide variant	NM_015135.3(NUP205):c.4005C>T (p.Val1335=)	NUP205-related disorder [RCV003894710]	likely benign	7	135619464	135619464	Human		name , trait , alternate_id
405285194	CV3202561	single nucleotide variant	NM_015135.3(NUP205):c.4296C>T (p.Ala1432=)	NUP205-related disorder [RCV003909818]	likely benign	7	135619854	135619854	Human		name , trait , alternate_id
405261738	CV3205136	single nucleotide variant	NM_015135.3(NUP205):c.5938C>T (p.Leu1980=)	NUP205-related disorder [RCV003944588]	likely benign	7	135648455	135648455	Human		name , trait , alternate_id
405282263	CV3212215	single nucleotide variant	NM_015135.3(NUP205):c.4827C>T (p.Ile1609=)	NUP205-related disorder [RCV003956879]	likely benign	7	135628006	135628006	Human		name , trait , alternate_id
405265619	CV3215598	single nucleotide variant	NM_015135.3(NUP205):c.3444A>T (p.Pro1148=)	NUP205-related disorder [RCV003946785]	likely benign	7	135616049	135616049	Human		name , trait , alternate_id
405679807	CV3352314	single nucleotide variant	NM_015135.3(NUP205):c.307A>G (p.Ile103Val)	not specified [RCV004488447]	uncertain significance	7	135573789	135573789	Human		name
405679844	CV3352321	single nucleotide variant	NM_015135.3(NUP205):c.448A>T (p.Ile150Leu)	not specified [RCV004488454]	uncertain significance	7	135576374	135576374	Human		name
405679882	CV3352329	single nucleotide variant	NM_015135.3(NUP205):c.749T>C (p.Ile250Thr)	not specified [RCV004488462]	uncertain significance	7	135577896	135577896	Human		name
597643854	CV3569932	single nucleotide variant	NM_015135.3(NUP205):c.367C>G (p.Pro123Ala)	not specified [RCV004832700]	uncertain significance	7	135576293	135576293	Human		name
597663634	CV3569936	single nucleotide variant	NM_015135.3(NUP205):c.782A>G (p.Asn261Ser)	not specified [RCV004835374]	uncertain significance	7	135577929	135577929	Human		name
597643860	CV3569938	single nucleotide variant	NM_015135.3(NUP205):c.619G>A (p.Gly207Ser)	not specified [RCV004832701]	uncertain significance	7	135577099	135577099	Human		name
597847024	CV3761966	single nucleotide variant	NM_015135.3(NUP205):c.4722A>G (p.Leu1574=)	not provided [RCV005087384]	likely benign	7	135626290	135626290	Human		name
597922765	CV3775741	single nucleotide variant	NM_015135.3(NUP205):c.5940G>A (p.Leu1980=)	not provided [RCV005115456]	likely benign	7	135648457	135648457	Human		name
597958714	CV3814905	single nucleotide variant	NM_015135.3(NUP205):c.3109C>T (p.Leu1037=)	not provided [RCV005163030]	likely benign	7	135607285	135607285	Human		name
597869641	CV3839271	single nucleotide variant	NM_015135.3(NUP205):c.3714T>G (p.Ala1238=)	not provided [RCV005176382]	likely benign	7	135617625	135617625	Human		name
597949899	CV3846802	single nucleotide variant	NM_015135.3(NUP205):c.5460A>G (p.Lys1820=)	not provided [RCV005189973]	likely benign	7	135643259	135643259	Human		name
597951793	CV3847466	single nucleotide variant	NM_015135.3(NUP205):c.3132G>A (p.Thr1044=)	not provided [RCV005190448]	likely benign	7	135607308	135607308	Human		name
598234786	CV4004706	single nucleotide variant	NM_015135.3(NUP205):c.563C>G (p.Thr188Arg)	not specified [RCV005381918]	uncertain significance	7	135577043	135577043	Human		name
598234817	CV4004712	single nucleotide variant	NM_015135.3(NUP205):c.917A>G (p.Tyr306Cys)	not specified [RCV005381922]	uncertain significance	7	135578790	135578790	Human		name
14978462	CV677359	single nucleotide variant	NM_015135.3(NUP205):c.595T>G (p.Phe199Val)	Marfanoid habitus and intellectual disability [RCV000850474]	uncertain significance	7	135577075	135577075	Human	1	name
15170898	CV699865	single nucleotide variant	NM_015135.3(NUP205):c.4245A>G (p.Gln1415=)	not provided [RCV000949734]	benign\|likely benign	7	135619803	135619803	Human		name
15138281	CV710799	single nucleotide variant	NM_015135.3(NUP205):c.5385G>A (p.Pro1795=)	not provided [RCV000965763]	benign\|likely benign	7	135638676	135638676	Human		name
15163609	CV722342	single nucleotide variant	NM_015135.3(NUP205):c.4425C>T (p.Ala1475=)	NUP205-related disorder [RCV003920561]\|Nephrotic syndrome, type 13 [RCV002501391]\|not provided [RCV000882007]	benign\|likely benign	7	135622871	135622871	Human	1	name , trait , alternate_id
15113116	CV750439	single nucleotide variant	NM_015135.3(NUP205):c.3018G>C (p.Leu1006=)	not provided [RCV000917035]	likely benign	7	135606863	135606863	Human		name
15188423	CV766123	single nucleotide variant	NM_015135.3(NUP205):c.5703A>G (p.Leu1901=)	not provided [RCV000931945]	likely benign	7	135645487	135645487	Human		name
150339997	CV1168106	single nucleotide variant	NM_015135.3(NUP205):c.1118T>C (p.Met373Thr)	not provided [RCV001534843]	benign	7	135584907	135584907	Human		name
150516885	CV1227324	single nucleotide variant	NM_015135.3(NUP205):c.1119G>A (p.Met373Ile)	not provided [RCV001639424]	benign	7	135584908	135584908	Human		name
151724386	CV1369794	single nucleotide variant	NM_015135.3(NUP205):c.2961C>G (p.Ile987Met)	Nephrotic syndrome, type 13 [RCV002490283]\|not provided [RCV001945335]\|not specified [RCV004043442]	uncertain significance	7	135606806	135606806	Human	1	name
151860294	CV1374040	single nucleotide variant	NM_015135.3(NUP205):c.2893C>T (p.Arg965Cys)	not provided [RCV001938454]\|not specified [RCV004651821]	uncertain significance	7	135606214	135606214	Human		name
151735870	CV1506952	single nucleotide variant	NM_015135.3(NUP205):c.1952C>A (p.Ala651Glu)	not provided [RCV001984708]	uncertain significance	7	135594668	135594668	Human		name
156405768	CV1884606	single nucleotide variant	NM_015135.3(NUP205):c.1565A>G (p.Asn522Ser)	not provided [RCV003070127]\|not specified [RCV004837869]	likely benign\|uncertain significance	7	135591541	135591541	Human		name
156404398	CV1886696	single nucleotide variant	NM_015135.3(NUP205):c.2051C>G (p.Ala684Gly)	not provided [RCV003069708]	uncertain significance	7	135597405	135597405	Human		name
156243146	CV1893839	single nucleotide variant	NM_015135.3(NUP205):c.1982C>G (p.Ala661Gly)	not provided [RCV003085821]\|not specified [RCV004071889]	uncertain significance	7	135594698	135594698	Human		name
156363101	CV1900784	single nucleotide variant	NM_015135.3(NUP205):c.1237C>T (p.Arg413Trp)	not provided [RCV002581868]	uncertain significance	7	135587593	135587593	Human		name
156358246	CV1904069	single nucleotide variant	NM_015135.3(NUP205):c.1469G>A (p.Arg490His)	not provided [RCV002581543]	uncertain significance	7	135587988	135587988	Human		name
156402969	CV1908222	single nucleotide variant	NM_015135.3(NUP205):c.2201C>G (p.Pro734Arg)	not provided [RCV002585112]	uncertain significance	7	135598134	135598134	Human		name
156436024	CV1937293	single nucleotide variant	NM_015135.3(NUP205):c.1208T>C (p.Met403Thr)	not provided [RCV003105154]	uncertain significance	7	135584997	135584997	Human		name
156416036	CV1966415	single nucleotide variant	NM_015135.3(NUP205):c.1361C>G (p.Pro454Arg)	not provided [RCV002589494]	uncertain significance	7	135587880	135587880	Human		name
155914147	CV1990343	single nucleotide variant	NM_015135.3(NUP205):c.1717C>A (p.Leu573Ile)	not provided [RCV002614205]	uncertain significance	7	135593079	135593079	Human		name
156133566	CV2047919	single nucleotide variant	NM_015135.3(NUP205):c.1030C>T (p.Pro344Ser)	not provided [RCV002800701]	uncertain significance	7	135578903	135578903	Human		name
156041033	CV2130593	single nucleotide variant	NM_015135.3(NUP205):c.2906G>T (p.Gly969Val)	not provided [RCV002949620]\|not specified [RCV004068315]	uncertain significance	7	135606751	135606751	Human		name
155914533	CV2145296	single nucleotide variant	NM_015135.3(NUP205):c.2768T>C (p.Ile923Thr)	not provided [RCV002991570]\|not specified [RCV004068539]	uncertain significance	7	135604405	135604405	Human		name
156253022	CV2212499	single nucleotide variant	NM_015135.3(NUP205):c.2393A>G (p.Tyr798Cys)	not specified [RCV004091385]	uncertain significance	7	135601388	135601388	Human		name
156016198	CV2295208	single nucleotide variant	NM_015135.3(NUP205):c.2666G>C (p.Arg889Thr)	not specified [RCV004158595]	uncertain significance	7	135602958	135602958	Human		name
156349921	CV2316103	single nucleotide variant	NM_015135.3(NUP205):c.2171G>T (p.Gly724Val)	not specified [RCV004174156]	uncertain significance	7	135598104	135598104	Human		name
156178404	CV2318081	single nucleotide variant	NM_015135.3(NUP205):c.2728C>A (p.Pro910Thr)	not specified [RCV004177176]	uncertain significance	7	135604365	135604365	Human		name
156164729	CV2319731	single nucleotide variant	NM_015135.3(NUP205):c.1000G>T (p.Ala334Ser)	not specified [RCV004187268]	uncertain significance	7	135578873	135578873	Human		name
156289773	CV2333227	single nucleotide variant	NM_015135.3(NUP205):c.2219G>A (p.Arg740Lys)	not specified [RCV004196560]	uncertain significance	7	135598152	135598152	Human		name
156285311	CV2349087	single nucleotide variant	NM_015135.3(NUP205):c.1519C>G (p.Pro507Ala)	not specified [RCV004205523]	uncertain significance	7	135591495	135591495	Human		name
156306089	CV2359844	single nucleotide variant	NM_015135.3(NUP205):c.1073C>T (p.Ala358Val)	not specified [RCV004212698]	uncertain significance	7	135584862	135584862	Human		name
156205413	CV2385205	single nucleotide variant	NM_015135.3(NUP205):c.2140C>G (p.Leu714Val)	not specified [RCV004228454]	uncertain significance	7	135598073	135598073	Human		name
156170632	CV2400596	single nucleotide variant	NM_015135.3(NUP205):c.2939G>A (p.Arg980His)	not specified [RCV004246776]	uncertain significance	7	135606784	135606784	Human		name
243055019	CV2408408	single nucleotide variant	NM_015135.3(NUP205):c.2453T>C (p.Leu818Pro)	Nephrotic syndrome, type 13 [RCV003131843]	uncertain significance	7	135601448	135601448	Human	1	name
243052424	CV2416109	single nucleotide variant	NM_015135.3(NUP205):c.2068G>A (p.Glu690Lys)	Nephrotic syndrome, type 13 [RCV003149169]	uncertain significance	7	135598001	135598001	Human	1	name
329362349	CV2463835	single nucleotide variant	NM_015135.3(NUP205):c.2552C>T (p.Ala851Val)	not specified [RCV004279918]	uncertain significance	7	135602844	135602844	Human		name
329398267	CV2464964	single nucleotide variant	NM_015135.3(NUP205):c.1053A>T (p.Glu351Asp)	not specified [RCV004284881]	uncertain significance	7	135584842	135584842	Human		name
401728292	CV2685990	single nucleotide variant	NM_015135.3(NUP205):c.2113C>T (p.Arg705Trp)	not specified [RCV004297007]	uncertain significance	7	135598046	135598046	Human		name
401741910	CV2697655	single nucleotide variant	NM_015135.3(NUP205):c.2938C>T (p.Arg980Cys)	not specified [RCV004300399]	uncertain significance	7	135606783	135606783	Human		name
401719504	CV2701145	single nucleotide variant	NM_015135.3(NUP205):c.1292C>T (p.Pro431Leu)	not specified [RCV004309729]	uncertain significance	7	135587648	135587648	Human		name
401759915	CV2701782	single nucleotide variant	NM_015135.3(NUP205):c.2929G>A (p.Val977Ile)	not specified [RCV004314176]	uncertain significance	7	135606774	135606774	Human		name
401771827	CV2711927	single nucleotide variant	NM_015135.3(NUP205):c.2860T>C (p.Cys954Arg)	not specified [RCV004309545]	uncertain significance	7	135606181	135606181	Human		name
401752412	CV2723227	single nucleotide variant	NM_015135.3(NUP205):c.2031G>T (p.Arg677Ser)	not specified [RCV004329463]	uncertain significance	7	135597385	135597385	Human		name
402495507	CV2875167	single nucleotide variant	NM_015135.3(NUP205):c.1811C>T (p.Thr604Met)	not provided [RCV003545357]\|not specified [RCV004837901]	uncertain significance	7	135593173	135593173	Human		name
405145852	CV3126479	single nucleotide variant	NM_015135.3(NUP205):c.2906G>A (p.Gly969Glu)	not provided [RCV003817206]	uncertain significance	7	135606751	135606751	Human		name
405679779	CV3352308	single nucleotide variant	NM_015135.3(NUP205):c.1169G>T (p.Arg390Leu)	not specified [RCV004488441]	uncertain significance	7	135584958	135584958	Human		name
405679784	CV3352309	single nucleotide variant	NM_015135.3(NUP205):c.1573C>G (p.Gln525Glu)	not specified [RCV004488442]	uncertain significance	7	135591549	135591549	Human		name
405679789	CV3352310	single nucleotide variant	NM_015135.3(NUP205):c.1844G>C (p.Arg615Pro)	not specified [RCV004488443]	uncertain significance	7	135594560	135594560	Human		name
405679793	CV3352311	single nucleotide variant	NM_015135.3(NUP205):c.1879G>A (p.Val627Ile)	not specified [RCV004488444]	uncertain significance	7	135594595	135594595	Human		name
405679797	CV3352312	single nucleotide variant	NM_015135.3(NUP205):c.2211G>T (p.Gln737His)	not specified [RCV004488445]	likely benign\|uncertain significance	7	135598144	135598144	Human		name
405679802	CV3352313	single nucleotide variant	NM_015135.3(NUP205):c.2615T>C (p.Leu872Pro)	not specified [RCV004488446]	uncertain significance	7	135602907	135602907	Human		name
407522014	CV3462415	single nucleotide variant	NM_015135.3(NUP205):c.1861C>T (p.His621Tyr)	not specified [RCV004652715]	uncertain significance	7	135594577	135594577	Human		name
597663573	CV3569926	single nucleotide variant	NM_015135.3(NUP205):c.2053A>G (p.Ile685Val)	not specified [RCV004835366]	uncertain significance	7	135597407	135597407	Human		name
597663588	CV3569928	single nucleotide variant	NM_015135.3(NUP205):c.2641C>G (p.Gln881Glu)	not specified [RCV004835368]	uncertain significance	7	135602933	135602933	Human		name
597664253	CV3569930	single nucleotide variant	NM_015135.3(NUP205):c.1101C>A (p.Asn367Lys)	not specified [RCV004835369]	likely benign	7	135584890	135584890	Human		name
597663613	CV3569933	single nucleotide variant	NM_015135.3(NUP205):c.1634T>C (p.Ile545Thr)	not specified [RCV004835371]	uncertain significance	7	135592996	135592996	Human		name
598266097	CV4004705	single nucleotide variant	NM_015135.3(NUP205):c.1026G>C (p.Gln342His)	not specified [RCV005388063]	uncertain significance	7	135578899	135578899	Human		name
598234809	CV4004711	single nucleotide variant	NM_015135.3(NUP205):c.1699G>A (p.Glu567Lys)	not specified [RCV005381921]	uncertain significance	7	135593061	135593061	Human		name
598234822	CV4004713	single nucleotide variant	NM_015135.3(NUP205):c.1615A>G (p.Ser539Gly)	not specified [RCV005381923]	uncertain significance	7	135591591	135591591	Human		name
14978243	CV677360	single nucleotide variant	NM_015135.3(NUP205):c.2008A>G (p.Thr670Ala)	Marfanoid habitus and intellectual disability [RCV000850433]	uncertain significance	7	135594724	135594724	Human	1	name
21069651	CV795977	single nucleotide variant	NM_015135.3(NUP205):c.1235A>G (p.Asn412Ser)	not provided [RCV000998931]	uncertain significance	7	135587591	135587591	Human		name
150336744	CV1165821	single nucleotide variant	NM_015135.3(NUP205):c.4772G>A (p.Arg1591His)	not provided [RCV001532122]	uncertain significance	7	135626340	135626340	Human		name
151233870	CV1317523	single nucleotide variant	NM_015135.3(NUP205):c.4066G>C (p.Glu1356Gln)	Nephrotic syndrome, type 13 [RCV001788904]\|not provided [RCV002074100]	benign	7	135619525	135619525	Human	1	name
151831714	CV1343679	single nucleotide variant	NM_015135.3(NUP205):c.5899G>A (p.Ala1967Thr)	not provided [RCV001920556]	uncertain significance	7	135648416	135648416	Human		name
151862077	CV1396958	single nucleotide variant	NM_015135.3(NUP205):c.3131C>T (p.Thr1044Met)	not provided [RCV001938678]	uncertain significance	7	135607307	135607307	Human		name
152155999	CV1572970	single nucleotide variant	NM_015135.3(NUP205):c.5908G>A (p.Ala1970Thr)	not provided [RCV002180139]\|not specified [RCV004045058]	likely benign\|uncertain significance	7	135648425	135648425	Human		name
152040644	CV1644174	single nucleotide variant	NM_015135.3(NUP205):c.3039A>T (p.Lys1013Asn)	not provided [RCV002126041]	benign	7	135606884	135606884	Human		name
152074769	CV1652790	single nucleotide variant	NM_015135.3(NUP205):c.4714G>A (p.Glu1572Lys)	not provided [RCV002148552]	likely benign	7	135626282	135626282	Human		name
152131562	CV1660267	single nucleotide variant	NM_015135.3(NUP205):c.4883A>G (p.Gln1628Arg)	not provided [RCV002176867]	likely benign\|conflicting interpretations of pathogenicity	7	135628062	135628062	Human		name
156403851	CV1871928	single nucleotide variant	NM_015135.3(NUP205):c.6005G>A (p.Arg2002His)	not provided [RCV003052700]	uncertain significance	7	135648522	135648522	Human		name
156378332	CV1876670	single nucleotide variant	NM_015135.3(NUP205):c.3701G>A (p.Arg1234Lys)	not provided [RCV003066938]	uncertain significance	7	135617612	135617612	Human		name
156395969	CV1877246	single nucleotide variant	NM_015135.3(NUP205):c.4283A>G (p.Tyr1428Cys)	NUP205-related disorder [RCV003963582]\|not provided [RCV003068597]	likely benign	7	135619841	135619841	Human	1	name , trait , alternate_id
156353618	CV1884607	single nucleotide variant	NM_015135.3(NUP205):c.4982G>A (p.Arg1661His)	not provided [RCV003070128]\|not specified [RCV004071976]	uncertain significance	7	135630393	135630393	Human		name
156284687	CV1884732	single nucleotide variant	NM_015135.3(NUP205):c.4849C>T (p.Arg1617Cys)	not provided [RCV003061198]	uncertain significance	7	135628028	135628028	Human		name
156131681	CV1885558	single nucleotide variant	NM_015135.3(NUP205):c.5821G>A (p.Ala1941Thr)	not provided [RCV003081863]	uncertain significance	7	135646166	135646166	Human		name
156143757	CV1898729	single nucleotide variant	NM_015135.3(NUP205):c.4601G>A (p.Arg1534His)	not provided [RCV003082299]\|not specified [RCV004073111]	uncertain significance	7	135625285	135625285	Human		name
156270837	CV1899401	single nucleotide variant	NM_015135.3(NUP205):c.4448G>A (p.Arg1483Gln)	not provided [RCV003086773]	uncertain significance	7	135622894	135622894	Human		name
156403227	CV1904421	single nucleotide variant	NM_015135.3(NUP205):c.3782C>G (p.Thr1261Ser)	not provided [RCV002585168]	uncertain significance	7	135618422	135618422	Human		name
156161370	CV1906933	single nucleotide variant	NM_015135.3(NUP205):c.3128G>C (p.Gly1043Ala)	not provided [RCV003082908]	uncertain significance	7	135607304	135607304	Human		name
156407750	CV1915069	single nucleotide variant	NM_015135.3(NUP205):c.4576G>A (p.Val1526Ile)	not provided [RCV002606992]	uncertain significance	7	135625260	135625260	Human		name
156309833	CV1925041	single nucleotide variant	NM_015135.3(NUP205):c.5386C>T (p.Arg1796Trp)	not provided [RCV002629696]	uncertain significance	7	135638677	135638677	Human		name
156375103	CV1930382	single nucleotide variant	NM_015135.3(NUP205):c.3616C>T (p.Arg1206Trp)	not provided [RCV002633760]\|not specified [RCV005382587]	uncertain significance	7	135617173	135617173	Human		name
156435840	CV1937176	single nucleotide variant	NM_015135.3(NUP205):c.5077G>A (p.Asp1693Asn)	not provided [RCV003105046]	uncertain significance	7	135635598	135635598	Human		name
156224218	CV1960440	single nucleotide variant	NM_015135.3(NUP205):c.4843C>G (p.Arg1615Gly)	not provided [RCV002575641]	uncertain significance	7	135628022	135628022	Human		name
155908775	CV1979964	single nucleotide variant	NM_015135.3(NUP205):c.3052A>G (p.Thr1018Ala)	not provided [RCV002613836]	uncertain significance	7	135606897	135606897	Human		name
156394927	CV1983728	single nucleotide variant	NM_015135.3(NUP205):c.3536G>C (p.Arg1179Pro)	not provided [RCV002605052]	uncertain significance	7	135617093	135617093	Human		name
156232906	CV1999444	single nucleotide variant	NM_015135.3(NUP205):c.4225A>G (p.Lys1409Glu)	not provided [RCV002667650]	uncertain significance	7	135619684	135619684	Human		name
156068056	CV2054640	single nucleotide variant	NM_015135.3(NUP205):c.3923A>G (p.Gln1308Arg)	not provided [RCV002797316]	uncertain significance	7	135618563	135618563	Human		name
156302923	CV2079602	single nucleotide variant	NM_015135.3(NUP205):c.4021A>T (p.Thr1341Ser)	not provided [RCV002857262]	uncertain significance	7	135619480	135619480	Human		name
156318491	CV2111820	single nucleotide variant	NM_015135.3(NUP205):c.3617G>A (p.Arg1206Gln)	not provided [RCV002937598]	uncertain significance	7	135617174	135617174	Human		name
156154613	CV2121819	single nucleotide variant	NM_015135.3(NUP205):c.4834C>T (p.Pro1612Ser)	not provided [RCV002929020]	uncertain significance	7	135628013	135628013	Human		name
156356804	CV2126121	single nucleotide variant	NM_015135.3(NUP205):c.4270T>A (p.Ser1424Thr)	not provided [RCV002966718]	uncertain significance	7	135619828	135619828	Human		name
156031854	CV2156478	single nucleotide variant	NM_015135.3(NUP205):c.3553A>G (p.Ile1185Val)	not provided [RCV003018707]	uncertain significance	7	135617110	135617110	Human		name
156368657	CV2160292	single nucleotide variant	NM_015135.3(NUP205):c.3439A>G (p.Met1147Val)	not provided [RCV003032060]	uncertain significance	7	135616044	135616044	Human		name
156045258	CV2186402	single nucleotide variant	NM_015135.3(NUP205):c.5998G>A (p.Val2000Ile)	not provided [RCV003036718]	uncertain significance	7	135648515	135648515	Human		name
155962740	CV2197642	single nucleotide variant	NM_015135.3(NUP205):c.3758C>T (p.Pro1253Leu)	not specified [RCV004074856]	uncertain significance	7	135617669	135617669	Human		name
156226661	CV2203152	single nucleotide variant	NM_015135.3(NUP205):c.3581A>G (p.Glu1194Gly)	not specified [RCV004070852]	uncertain significance	7	135617138	135617138	Human		name
156371124	CV2204447	single nucleotide variant	NM_015135.3(NUP205):c.4000G>A (p.Val1334Met)	not specified [RCV004079254]	uncertain significance	7	135619459	135619459	Human		name
156328114	CV2220007	single nucleotide variant	NM_015135.3(NUP205):c.5784A>C (p.Arg1928Ser)	not specified [RCV004095598]	uncertain significance	7	135645568	135645568	Human		name
155935589	CV2225647	single nucleotide variant	NM_015135.3(NUP205):c.3103G>A (p.Ala1035Thr)	not specified [RCV004102800]	uncertain significance	7	135607279	135607279	Human		name
156187488	CV2226686	single nucleotide variant	NM_015135.3(NUP205):c.4991A>G (p.Asp1664Gly)	not specified [RCV004101917]	uncertain significance	7	135630402	135630402	Human		name
156298032	CV2246987	single nucleotide variant	NM_015135.3(NUP205):c.5003G>C (p.Gly1668Ala)	not specified [RCV004112770]	uncertain significance	7	135630414	135630414	Human		name
155979036	CV2247169	single nucleotide variant	NM_015135.3(NUP205):c.3565A>G (p.Ile1189Val)	not specified [RCV004114693]	uncertain significance	7	135617122	135617122	Human		name
155987401	CV2248083	single nucleotide variant	NM_015135.3(NUP205):c.5613A>T (p.Lys1871Asn)	not specified [RCV004115357]	uncertain significance	7	135644948	135644948	Human		name
156358970	CV2260900	single nucleotide variant	NM_015135.3(NUP205):c.3088C>T (p.Arg1030Trp)	not specified [RCV004125791]	uncertain significance	7	135607264	135607264	Human		name
11060108	CV226850	single nucleotide variant	NM_015135.3(NUP205):c.5984T>C (p.Phe1995Ser)	Nephrotic syndrome, type 13 [RCV000210736]	pathogenic\|not provided	7	135648501	135648501	Human	1	name
156274973	CV2287553	single nucleotide variant	NM_015135.3(NUP205):c.4787C>T (p.Pro1596Leu)	not specified [RCV004141003]	uncertain significance	7	135626355	135626355	Human		name
156074747	CV2291332	single nucleotide variant	NM_015135.3(NUP205):c.3109C>G (p.Leu1037Val)	not specified [RCV004162023]	uncertain significance	7	135607285	135607285	Human		name
156100870	CV2294753	single nucleotide variant	NM_015135.3(NUP205):c.3397C>T (p.Arg1133Trp)	not specified [RCV004161989]	uncertain significance	7	135616002	135616002	Human		name
156349925	CV2316104	single nucleotide variant	NM_015135.3(NUP205):c.3451C>T (p.Pro1151Ser)	not specified [RCV004174157]	uncertain significance	7	135616056	135616056	Human		name
156177339	CV2317238	single nucleotide variant	NM_015135.3(NUP205):c.2998C>G (p.Pro1000Ala)	not specified [RCV004178736]	uncertain significance	7	135606843	135606843	Human		name
156175434	CV2331090	single nucleotide variant	NM_015135.3(NUP205):c.5422C>T (p.Arg1808Cys)	not specified [RCV004181703]	uncertain significance	7	135643221	135643221	Human		name
156014015	CV2368654	single nucleotide variant	NM_015135.3(NUP205):c.3664C>T (p.Arg1222Trp)	not specified [RCV004214550]	uncertain significance	7	135617221	135617221	Human		name
243057455	CV2408405	single nucleotide variant	NM_015135.3(NUP205):c.5246T>C (p.Ile1749Thr)	Nephrotic syndrome, type 13 [RCV003133093]\|not specified [RCV005377342]	uncertain significance	7	135638040	135638040	Human	1	name
243055387	CV2408407	single nucleotide variant	NM_015135.3(NUP205):c.5789T>A (p.Leu1930Ter)	Nephrotic syndrome, type 13 [RCV003131842]	uncertain significance	7	135645573	135645573	Human	1	name
329400038	CV2440422	single nucleotide variant	NM_015135.3(NUP205):c.4694A>G (p.Lys1565Arg)	not specified [RCV004256357]	uncertain significance	7	135626262	135626262	Human		name
329356015	CV2442437	single nucleotide variant	NM_015135.3(NUP205):c.3624G>T (p.Gln1208His)	not specified [RCV004266682]	uncertain significance	7	135617181	135617181	Human		name
329362083	CV2448281	single nucleotide variant	NM_015135.3(NUP205):c.5114A>G (p.Gln1705Arg)	not specified [RCV004263480]	uncertain significance	7	135635635	135635635	Human		name
329395957	CV2451812	single nucleotide variant	NM_015135.3(NUP205):c.3434A>T (p.Asp1145Val)	not specified [RCV004276495]	uncertain significance	7	135616039	135616039	Human		name
329384695	CV2458367	single nucleotide variant	NM_015135.3(NUP205):c.3364A>G (p.Ile1122Val)	not provided [RCV005101300]\|not specified [RCV004266005]	uncertain significance	7	135615969	135615969	Human		name
329360112	CV2458525	single nucleotide variant	NM_015135.3(NUP205):c.3542A>G (p.Lys1181Arg)	not specified [RCV004268217]	uncertain significance	7	135617099	135617099	Human		name
329360687	CV2462870	single nucleotide variant	NM_015135.3(NUP205):c.6010C>T (p.Arg2004Cys)	not specified [RCV004272718]	uncertain significance	7	135648527	135648527	Human		name
329399071	CV2471883	single nucleotide variant	NM_015135.3(NUP205):c.5716C>T (p.Arg1906Cys)	not specified [RCV004280910]	uncertain significance	7	135645500	135645500	Human		name
401781824	CV2678313	single nucleotide variant	NM_015135.3(NUP205):c.4975A>G (p.Ile1659Val)	not specified [RCV004290304]	uncertain significance	7	135630386	135630386	Human		name
401728236	CV2685962	single nucleotide variant	NM_015135.3(NUP205):c.3515T>G (p.Phe1172Cys)	not specified [RCV004294932]	uncertain significance	7	135616709	135616709	Human		name
401769157	CV2693426	single nucleotide variant	NM_015135.3(NUP205):c.5995C>T (p.Leu1999Phe)	not specified [RCV004295377]	uncertain significance	7	135648512	135648512	Human		name
401762086	CV2699514	single nucleotide variant	NM_015135.3(NUP205):c.5860A>G (p.Ile1954Val)	not specified [RCV004299724]	likely benign	7	135646205	135646205	Human		name
401739850	CV2709696	single nucleotide variant	NM_015135.3(NUP205):c.5489A>G (p.Tyr1830Cys)	not specified [RCV004320693]	uncertain significance	7	135643288	135643288	Human		name
401768344	CV2720178	single nucleotide variant	NM_015135.3(NUP205):c.5750C>T (p.Pro1917Leu)	not specified [RCV004323731]	uncertain significance	7	135645534	135645534	Human		name
401725507	CV2721804	single nucleotide variant	NM_015135.3(NUP205):c.4630C>A (p.Pro1544Thr)	not specified [RCV004326322]	uncertain significance	7	135625314	135625314	Human		name
401723928	CV2725090	single nucleotide variant	NM_015135.3(NUP205):c.3388A>C (p.Asn1130His)	not specified [RCV004319837]	uncertain significance	7	135615993	135615993	Human		name
401889200	CV2761922	single nucleotide variant	NM_015135.3(NUP205):c.5243A>G (p.Glu1748Gly)	not specified [RCV004339551]	uncertain significance	7	135638037	135638037	Human		name
401869633	CV2782432	single nucleotide variant	NM_015135.3(NUP205):c.5686A>C (p.Ile1896Leu)	not specified [RCV004365163]	uncertain significance	7	135645470	135645470	Human		name
401922766	CV2823177	single nucleotide variant	NM_015135.3(NUP205):c.5276A>G (p.Asn1759Ser)	NUP205-related disorder [RCV003954201]\|not provided [RCV003434140]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	135638567	135638567	Human	1	name , trait , alternate_id
405165652	CV2905590	single nucleotide variant	NM_015135.3(NUP205):c.3535C>T (p.Arg1179Cys)	not provided [RCV003562580]\|not specified [RCV004369287]	uncertain significance	7	135617092	135617092	Human		name
405029123	CV2925937	single nucleotide variant	NM_015135.3(NUP205):c.4799T>A (p.Phe1600Tyr)	not provided [RCV003578225]	likely benign	7	135627978	135627978	Human		name
405026348	CV3079302	single nucleotide variant	NM_015135.3(NUP205):c.4868C>G (p.Ala1623Gly)	not provided [RCV003738815]	uncertain significance	7	135628047	135628047	Human		name
405277629	CV3195992	single nucleotide variant	NM_015135.3(NUP205):c.5035A>G (p.Ile1679Val)	NUP205-related disorder [RCV003904514]	uncertain significance	7	135630446	135630446	Human		name , trait , alternate_id
405271904	CV3206327	single nucleotide variant	NM_015135.3(NUP205):c.4867G>T (p.Ala1623Ser)	NUP205-related disorder [RCV003971953]	likely benign	7	135628046	135628046	Human		name , trait , alternate_id
405679817	CV3352316	single nucleotide variant	NM_015135.3(NUP205):c.3767T>C (p.Met1256Thr)	not specified [RCV004488449]	uncertain significance	7	135617678	135617678	Human		name
405679822	CV3352317	single nucleotide variant	NM_015135.3(NUP205):c.3976G>A (p.Glu1326Lys)	not specified [RCV004488450]	uncertain significance	7	135619435	135619435	Human		name
405679828	CV3352318	single nucleotide variant	NM_015135.3(NUP205):c.4190A>G (p.Tyr1397Cys)	not specified [RCV004488451]	uncertain significance	7	135619649	135619649	Human		name
405679832	CV3352319	single nucleotide variant	NM_015135.3(NUP205):c.4322T>C (p.Leu1441Ser)	not specified [RCV004488452]	uncertain significance	7	135619880	135619880	Human		name
405679839	CV3352320	single nucleotide variant	NM_015135.3(NUP205):c.4478G>T (p.Arg1493Met)	not specified [RCV004488453]	uncertain significance	7	135622924	135622924	Human		name
405679849	CV3352322	single nucleotide variant	NM_015135.3(NUP205):c.4687G>C (p.Val1563Leu)	not specified [RCV004488455]	uncertain significance	7	135626255	135626255	Human		name
405679854	CV3352323	single nucleotide variant	NM_015135.3(NUP205):c.4894A>C (p.Thr1632Pro)	not specified [RCV004488456]	uncertain significance	7	135628073	135628073	Human		name
405679858	CV3352324	single nucleotide variant	NM_015135.3(NUP205):c.4981C>T (p.Arg1661Cys)	not specified [RCV004488457]	uncertain significance	7	135630392	135630392	Human		name
405679862	CV3352325	single nucleotide variant	NM_015135.3(NUP205):c.5138G>A (p.Arg1713His)	not specified [RCV004488458]	uncertain significance	7	135637932	135637932	Human		name
405679866	CV3352326	single nucleotide variant	NM_015135.3(NUP205):c.5150G>A (p.Gly1717Glu)	not specified [RCV004488459]	uncertain significance	7	135637944	135637944	Human		name
405679871	CV3352327	single nucleotide variant	NM_015135.3(NUP205):c.5311A>G (p.Ser1771Gly)	not specified [RCV004488460]	uncertain significance	7	135638602	135638602	Human		name
405679877	CV3352328	single nucleotide variant	NM_015135.3(NUP205):c.5632C>T (p.Arg1878Cys)	not specified [RCV004488461]	uncertain significance	7	135644967	135644967	Human		name
407477801	CV3462414	single nucleotide variant	NM_015135.3(NUP205):c.3727C>T (p.Leu1243Phe)	not specified [RCV004638872]	uncertain significance	7	135617638	135617638	Human		name
407477806	CV3462416	single nucleotide variant	NM_015135.3(NUP205):c.4918C>G (p.Gln1640Glu)	not specified [RCV004638873]	uncertain significance	7	135628097	135628097	Human		name
407522017	CV3462417	single nucleotide variant	NM_015135.3(NUP205):c.4342A>G (p.Met1448Val)	not specified [RCV004652716]	uncertain significance	7	135622788	135622788	Human		name
408367175	CV3516323	single nucleotide variant	NM_015135.3(NUP205):c.3551A>G (p.Asn1184Ser)	NUP205-related disorder [RCV004757896]\|not specified [RCV005377654]	likely benign\|uncertain significance	7	135617108	135617108	Human	1	name , trait , alternate_id
596932348	CV3538968	single nucleotide variant	NM_015135.3(NUP205):c.3184C>G (p.Leu1062Val)	not provided [RCV004793094]	uncertain significance	7	135607360	135607360	Human		name
596932349	CV3538969	single nucleotide variant	NM_015135.3(NUP205):c.5654A>G (p.Asn1885Ser)	not provided [RCV004793095]	uncertain significance	7	135644989	135644989	Human		name
597643839	CV3569920	single nucleotide variant	NM_015135.3(NUP205):c.5284G>A (p.Glu1762Lys)	not specified [RCV004832697]	uncertain significance	7	135638575	135638575	Human		name
597663538	CV3569921	single nucleotide variant	NM_015135.3(NUP205):c.4006G>A (p.Ala1336Thr)	not specified [RCV004835362]	uncertain significance	7	135619465	135619465	Human		name
597643845	CV3569922	single nucleotide variant	NM_015135.3(NUP205):c.4048G>A (p.Val1350Ile)	not specified [RCV004832698]	uncertain significance	7	135619507	135619507	Human		name
597663547	CV3569923	single nucleotide variant	NM_015135.3(NUP205):c.6011G>A (p.Arg2004His)	not specified [RCV004835363]	uncertain significance	7	135648528	135648528	Human		name
597663565	CV3569925	single nucleotide variant	NM_015135.3(NUP205):c.5753C>A (p.Thr1918Lys)	not specified [RCV004835365]	uncertain significance	7	135645537	135645537	Human		name
597663579	CV3569927	single nucleotide variant	NM_015135.3(NUP205):c.4652A>G (p.Tyr1551Cys)	not specified [RCV004835367]	uncertain significance	7	135625336	135625336	Human		name
597643852	CV3569929	single nucleotide variant	NM_015135.3(NUP205):c.3067C>T (p.Pro1023Ser)	not specified [RCV004832699]	uncertain significance	7	135606912	135606912	Human		name
597663602	CV3569931	single nucleotide variant	NM_015135.3(NUP205):c.5786C>T (p.Thr1929Ile)	not specified [RCV004835370]	uncertain significance	7	135645570	135645570	Human		name
597663620	CV3569934	single nucleotide variant	NM_015135.3(NUP205):c.4880G>T (p.Cys1627Phe)	not specified [RCV004835372]	uncertain significance	7	135628059	135628059	Human		name
597663626	CV3569935	single nucleotide variant	NM_015135.3(NUP205):c.4206A>T (p.Lys1402Asn)	not specified [RCV004835373]	uncertain significance	7	135619665	135619665	Human		name
597663642	CV3569937	single nucleotide variant	NM_015135.3(NUP205):c.5674C>T (p.Leu1892Phe)	not specified [RCV004835375]	uncertain significance	7	135645009	135645009	Human		name
598266093	CV4004704	single nucleotide variant	NM_015135.3(NUP205):c.5902A>G (p.Ile1968Val)	not specified [RCV005388062]	uncertain significance	7	135648419	135648419	Human		name
598266102	CV4004707	single nucleotide variant	NM_015135.3(NUP205):c.4339A>G (p.Thr1447Ala)	not specified [RCV005388064]	uncertain significance	7	135622785	135622785	Human		name
598266106	CV4004708	single nucleotide variant	NM_015135.3(NUP205):c.5561T>C (p.Leu1854Ser)	not specified [RCV005388065]	uncertain significance	7	135644896	135644896	Human		name
598234802	CV4004710	single nucleotide variant	NM_015135.3(NUP205):c.4127C>T (p.Thr1376Ile)	not specified [RCV005381920]	uncertain significance	7	135619586	135619586	Human		name
598234830	CV4004714	single nucleotide variant	NM_015135.3(NUP205):c.4571T>A (p.Val1524Asp)	not specified [RCV005381924]	uncertain significance	7	135625255	135625255	Human		name
598234844	CV4004716	single nucleotide variant	NM_015135.3(NUP205):c.3140G>C (p.Arg1047Thr)	not specified [RCV005381926]	uncertain significance	7	135607316	135607316	Human		name
598266110	CV4004717	single nucleotide variant	NM_015135.3(NUP205):c.3047G>C (p.Ser1016Thr)	not specified [RCV005388066]	uncertain significance	7	135606892	135606892	Human		name
598266114	CV4004718	single nucleotide variant	NM_015135.3(NUP205):c.5894C>A (p.Ala1965Asp)	not specified [RCV005388067]	uncertain significance	7	135648411	135648411	Human		name
598234856	CV4004720	single nucleotide variant	NM_015135.3(NUP205):c.4754G>A (p.Cys1585Tyr)	not specified [RCV005381928]	uncertain significance	7	135626322	135626322	Human		name
598234864	CV4004721	single nucleotide variant	NM_015135.3(NUP205):c.4319C>G (p.Thr1440Ser)	not specified [RCV005381929]	uncertain significance	7	135619877	135619877	Human		name
15111676	CV710798	single nucleotide variant	NM_015135.3(NUP205):c.3056A>G (p.Asn1019Ser)	NUP205-related disorder [RCV003926144]\|not provided [RCV000961153]\|not specified [RCV004029894]	likely benign\|uncertain significance	7	135606901	135606901	Human	1	name , trait , alternate_id
15180818	CV722341	single nucleotide variant	NM_015135.3(NUP205):c.3430C>G (p.Leu1144Val)	not provided [RCV000885619]	benign\|likely benign	7	135616035	135616035	Human		name
15163786	CV735969	single nucleotide variant	NM_015135.3(NUP205):c.5312G>T (p.Ser1771Ile)	NUP205-related disorder [RCV003910798]\|not provided [RCV000903852]	likely benign	7	135638603	135638603	Human	1	name , trait , alternate_id
15192970	CV766122	single nucleotide variant	NM_015135.3(NUP205):c.3941T>C (p.Ile1314Thr)	NUP205-related disorder [RCV003933176]\|not provided [RCV000933233]	likely benign	7	135618581	135618581	Human	1	name , trait , alternate_id
21075007	CV798582	single nucleotide variant	NM_015135.3(NUP205):c.3329T>C (p.Leu1110Pro)	Nephrotic syndrome, type 13 [RCV000995822]	likely pathogenic	7	135615934	135615934	Human	1	name
150505602	CV1213567	insertion	NM_015135.3(NUP205):c.1042+285_1042+286insCTT	not provided [RCV001595823]	benign	7	135579198	135579199	Human		name
150467166	CV1218312	insertion	NM_015135.3(NUP205):c.5559+64_5559+65insGGTCT	not provided [RCV001614438]	benign	7	135643420	135643421	Human		name
13831725	CV582222	inversion	NM_015135.3(NUP205):c.788_789inv (p.Ser263Leu)	not provided [RCV000722406]	uncertain significance	7	135577935	135577936	Human		name
152044671	CV1534511	inversion	NM_015135.3(NUP205):c.1118_1119inv (p.Met373Thr)	not provided [RCV002088407]	benign	7	135584907	135584908	Human		name
13832211	CV582703	indel	NM_015135.3(NUP205):c.1281_1282delinsAT (p.Met427_Gly428delinsIleCys)	not provided [RCV000722895]	uncertain significance	7	135587637	135587638	Human		name

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