Tapt1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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295 records found for search term Tapt1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
401961566	CV2843887	single nucleotide variant	NM_153365.3(TAPT1):c.-1C>T	not provided [RCV003481726]	uncertain significance	4	16226458	16226458	Human		name
127337163	CV1135580	single nucleotide variant	NM_153365.3(TAPT1):c.200-7T>C	TAPT1-related disorder [RCV003931008]\|not provided [RCV001492653]	likely benign	4	16213905	16213905	Human	1	name , trait , alternate_id
151723945	CV1439765	single nucleotide variant	NM_153365.3(TAPT1):c.199+1G>A	not provided [RCV002040445]	likely pathogenic\|uncertain significance	4	16226258	16226258	Human		name
151725702	CV1462177	single nucleotide variant	NM_153365.3(TAPT1):c.449+3A>C	not provided [RCV001966558]	uncertain significance	4	16202459	16202459	Human		name
152112771	CV1539345	duplication	NM_153365.3(TAPT1):c.613-3dup	not provided [RCV002080476]	benign	4	16188357	16188358	Human		name
152125944	CV1548759	deletion	NM_153365.3(TAPT1):c.917-8del	not provided [RCV002082216]	benign	4	16179665	16179665	Human		name
152166787	CV1597218	single nucleotide variant	NM_153365.3(TAPT1):c.846+8T>G	not provided [RCV002204517]	likely benign	4	16186773	16186773	Human		name
152087274	CV1625849	single nucleotide variant	NM_153365.3(TAPT1):c.199+9G>A	not provided [RCV002131587]	likely benign	4	16226250	16226250	Human		name
152131687	CV1633130	deletion	NM_153365.3(TAPT1):c.613-3del	not provided [RCV002137004]	benign	4	16188358	16188358	Human		name
155949645	CV1921858	duplication	NM_153365.3(TAPT1):c.917-8dup	not provided [RCV002616150]	benign	4	16179664	16179665	Human		name
156385027	CV1961168	single nucleotide variant	NM_153365.3(TAPT1):c.749-5A>G	not provided [RCV002583427]	likely benign	4	16186883	16186883	Human		name
156052170	CV2027391	single nucleotide variant	NM_153365.3(TAPT1):c.330+9T>G	not provided [RCV002736547]	likely benign	4	16213759	16213759	Human		name
156151369	CV2100313	single nucleotide variant	NM_153365.3(TAPT1):c.917-7C>T	not provided [RCV002872330]	likely benign	4	16179664	16179664	Human		name
402480636	CV2863946	single nucleotide variant	NM_153365.3(TAPT1):c.450-9A>G	not provided [RCV003543933]	likely benign	4	16191532	16191532	Human		name
405148974	CV3141904	single nucleotide variant	NM_153365.3(TAPT1):c.199+8G>A	not provided [RCV003839826]	likely benign	4	16226251	16226251	Human		name
405208074	CV3145562	single nucleotide variant	NM_153365.3(TAPT1):c.917-7C>G	not provided [RCV003845292]	likely benign	4	16179664	16179664	Human		name
408394226	CV3521840	single nucleotide variant	NM_153365.3(TAPT1):c.846+2T>A	Complex lethal osteochondrodysplasia [RCV004764639]	pathogenic	4	16186779	16186779	Human	1	name
597841415	CV3752828	single nucleotide variant	NM_153365.3(TAPT1):c.199+9G>C	not provided [RCV005086557]	likely benign	4	16226250	16226250	Human		name
597877631	CV3860289	single nucleotide variant	NM_153365.3(TAPT1):c.997+8A>T	not provided [RCV005198498]	likely benign	4	16179569	16179569	Human		name
15113792	CV730271	single nucleotide variant	NM_153365.3(TAPT1):c.917-3T>C	not provided [RCV000894733]	benign	4	16179660	16179660	Human		name
15184109	CV779193	single nucleotide variant	NM_153365.3(TAPT1):c.997+7C>A	not provided [RCV000975033]	benign\|likely benign	4	16179570	16179570	Human		name
150333612	CV1171223	single nucleotide variant	NM_153365.3(TAPT1):c.846+22C>T	not provided [RCV001539584]	likely benign	4	16186759	16186759	Human		name
150410923	CV1176447	single nucleotide variant	NM_153365.3(TAPT1):c.916+23T>G	not provided [RCV001546894]	likely benign	4	16186512	16186512	Human		name
150415867	CV1179812	single nucleotide variant	NM_153365.3(TAPT1):c.998-27C>T	not provided [RCV001549333]	likely benign	4	16176255	16176255	Human		name
150513256	CV1211870	single nucleotide variant	NM_153365.3(TAPT1):c.331-54T>C	not provided [RCV001598391]	benign	4	16202634	16202634	Human		name
150511735	CV1212822	single nucleotide variant	NM_153365.3(TAPT1):c.613-95A>C	not provided [RCV001598054]	benign	4	16188450	16188450	Human		name
150478466	CV1238911	duplication	NM_153365.3(TAPT1):c.331-34dup	not provided [RCV001652376]	benign	4	16202603	16202604	Human		name
150504339	CV1240734	single nucleotide variant	NM_153365.3(TAPT1):c.450-94C>T	not provided [RCV001657577]	benign	4	16191617	16191617	Human		name
150447393	CV1250821	single nucleotide variant	NM_153365.3(TAPT1):c.997+79A>G	not provided [RCV001667326]	benign	4	16179498	16179498	Human		name
150472441	CV1252245	single nucleotide variant	NM_153365.3(TAPT1):c.200-16A>C	Complex lethal osteochondrodysplasia [RCV001815609]\|not provided [RCV001671446]	benign	4	16213914	16213914	Human	1	name
150479797	CV1258312	single nucleotide variant	NM_153365.3(TAPT1):c.613-13T>A	not provided [RCV001685731]	benign	4	16188368	16188368	Human		name
150451792	CV1260303	single nucleotide variant	NM_153365.3(TAPT1):c.331-23C>T	not provided [RCV001680793]	benign	4	16202603	16202603	Human		name
150494965	CV1267442	single nucleotide variant	NM_153365.3(TAPT1):c.199+59C>T	not provided [RCV001688470]	benign	4	16226200	16226200	Human		name
150499268	CV1270793	deletion	NM_153365.3(TAPT1):c.331-24del	not provided [RCV001689343]	benign	4	16202604	16202604	Human		name
150436833	CV1286435	single nucleotide variant	NM_153365.3(TAPT1):c.917-21T>C	not provided [RCV001724513]	benign	4	16179678	16179678	Human		name
152161008	CV1568654	single nucleotide variant	NM_153365.3(TAPT1):c.331-13T>C	not provided [RCV002203431]	likely benign	4	16202593	16202593	Human		name
152083135	CV1623723	single nucleotide variant	NM_153365.3(TAPT1):c.998-15T>A	not provided [RCV002149573]	likely benign	4	16176243	16176243	Human		name
152042336	CV1624222	single nucleotide variant	NM_153365.3(TAPT1):c.612+19C>A	not provided [RCV002126251]	likely benign	4	16191342	16191342	Human		name
152163316	CV1646432	single nucleotide variant	NM_153365.3(TAPT1):c.612+20C>T	not provided [RCV002160030]	benign	4	16191341	16191341	Human		name
152170797	CV1651311	single nucleotide variant	NM_153365.3(TAPT1):c.199+10G>A	not provided [RCV002143235]	likely benign	4	16226249	16226249	Human		name
152090493	CV1654852	single nucleotide variant	NM_153365.3(TAPT1):c.449+15G>A	not provided [RCV002212657]	likely benign	4	16202447	16202447	Human		name
156386393	CV1961285	single nucleotide variant	NM_153365.3(TAPT1):c.449+14C>A	not provided [RCV002583516]	likely benign	4	16202448	16202448	Human		name
156143521	CV1973718	single nucleotide variant	NM_153365.3(TAPT1):c.847-13T>C	not provided [RCV002593911]	likely benign\|uncertain significance	4	16186617	16186617	Human		name
156303480	CV2013590	deletion	NM_153365.3(TAPT1):c.331-15del	not provided [RCV002716168]	likely benign	4	16202595	16202595	Human		name
156362538	CV2016782	single nucleotide variant	NM_153365.3(TAPT1):c.331-15C>T	not provided [RCV002720963]	likely benign	4	16202595	16202595	Human		name
156144642	CV2037250	single nucleotide variant	NM_153365.3(TAPT1):c.331-20C>T	not provided [RCV002786644]	likely benign	4	16202600	16202600	Human		name
156137624	CV2129131	single nucleotide variant	NM_153365.3(TAPT1):c.612+20C>G	not provided [RCV002954107]	likely benign	4	16191341	16191341	Human		name
11059939	CV226775	single nucleotide variant	NM_153365.3(TAPT1):c.1108-1G>C	Complex lethal osteochondrodysplasia [RCV000210518]	pathogenic	4	16174730	16174730	Human	1	name
405231876	CV2974525	single nucleotide variant	NM_153365.3(TAPT1):c.846+17T>C	not provided [RCV003682341]	likely benign	4	16186764	16186764	Human		name
402508274	CV2979066	single nucleotide variant	NM_153365.3(TAPT1):c.998-17C>T	not provided [RCV003689224]	likely benign	4	16176245	16176245	Human		name
405096123	CV3119109	single nucleotide variant	NM_153365.3(TAPT1):c.846+18C>T	not provided [RCV003811560]	likely benign	4	16186763	16186763	Human		name
405177703	CV3123469	single nucleotide variant	NM_153365.3(TAPT1):c.331-18C>T	not provided [RCV003819678]	likely benign	4	16202598	16202598	Human		name
405249783	CV3170116	single nucleotide variant	NM_153365.3(TAPT1):c.997+20A>G	not provided [RCV003869745]	likely benign	4	16179557	16179557	Human		name
597894653	CV3744104	single nucleotide variant	NM_153365.3(TAPT1):c.612+15T>C	not provided [RCV005071574]	likely benign	4	16191346	16191346	Human		name
597928606	CV3749158	single nucleotide variant	NM_153365.3(TAPT1):c.613-20C>T	not provided [RCV005075614]	likely benign	4	16188375	16188375	Human		name
597859695	CV3769987	single nucleotide variant	NM_153365.3(TAPT1):c.612+13C>T	not provided [RCV005105838]	likely benign	4	16191348	16191348	Human		name
597959175	CV3797498	deletion	NM_153365.3(TAPT1):c.846+15del	not provided [RCV005138185]	likely benign	4	16186766	16186766	Human		name
597844880	CV3827531	duplication	NM_153365.3(TAPT1):c.613-14dup	not provided [RCV005172802]	likely benign	4	16188368	16188369	Human		name
15192793	CV774928	single nucleotide variant	NM_153365.3(TAPT1):c.748+10T>C	not provided [RCV000933182]	likely benign	4	16188210	16188210	Human		name
150331150	CV1171222	single nucleotide variant	NM_153365.3(TAPT1):c.917-148A>T	not provided [RCV001538511]	benign	4	16179805	16179805	Human		name
150422282	CV1179809	single nucleotide variant	NM_153365.3(TAPT1):c.1475-28C>T	not provided [RCV001552471]	likely benign	4	16163565	16163565	Human		name
150428350	CV1186723	single nucleotide variant	NM_153365.3(TAPT1):c.613-158T>C	not provided [RCV001562148]	likely benign	4	16188513	16188513	Human		name
150416079	CV1190175	single nucleotide variant	NM_153365.3(TAPT1):c.331-191C>T	not provided [RCV001568277]	likely benign	4	16202771	16202771	Human		name
150422244	CV1193437	single nucleotide variant	NM_153365.3(TAPT1):c.749-145A>G	not provided [RCV001570937]	likely benign	4	16187023	16187023	Human		name
150414335	CV1197196	single nucleotide variant	NM_153365.3(TAPT1):c.1474+10G>A	not provided [RCV001574912]	benign\|likely benign	4	16166623	16166623	Human		name
150419880	CV1197199	single nucleotide variant	NM_153365.3(TAPT1):c.449+131C>A	not provided [RCV001577369]	likely benign	4	16202331	16202331	Human		name
150478291	CV1207640	single nucleotide variant	NM_153365.3(TAPT1):c.199+240G>A	not provided [RCV001589916]	likely benign	4	16226019	16226019	Human		name
150498090	CV1208863	single nucleotide variant	NM_153365.3(TAPT1):c.1107+79G>A	not provided [RCV001594080]	likely benign	4	16176040	16176040	Human		name
150446153	CV1215613	single nucleotide variant	NM_153365.3(TAPT1):c.917-147C>T	not provided [RCV001611206]	benign	4	16179804	16179804	Human		name
150469476	CV1219080	single nucleotide variant	NM_153365.3(TAPT1):c.331-190G>A	not provided [RCV001614832]	benign	4	16202770	16202770	Human		name
150436567	CV1220567	single nucleotide variant	NM_153365.3(TAPT1):c.749-119A>G	not provided [RCV001609551]	benign	4	16186997	16186997	Human		name
150502357	CV1223188	single nucleotide variant	NM_153365.3(TAPT1):c.917-169C>T	not provided [RCV001621122]	benign	4	16179826	16179826	Human		name
150502607	CV1223260	single nucleotide variant	NM_153365.3(TAPT1):c.331-146G>A	not provided [RCV001621194]	benign	4	16202726	16202726	Human		name
150487962	CV1225988	single nucleotide variant	NM_153365.3(TAPT1):c.331-234A>G	not provided [RCV001618149]	benign	4	16202814	16202814	Human		name
150513954	CV1227983	single nucleotide variant	NM_153365.3(TAPT1):c.199+101T>C	not provided [RCV001638261]	benign	4	16226158	16226158	Human		name
150514566	CV1228559	single nucleotide variant	NM_153365.3(TAPT1):c.331-153T>C	not provided [RCV001638547]	benign	4	16202733	16202733	Human		name
150436825	CV1234124	deletion	NM_153365.3(TAPT1):c.917-130del	not provided [RCV001644251]	benign	4	16179787	16179787	Human		name
150459023	CV1236027	single nucleotide variant	NM_153365.3(TAPT1):c.916+277T>C	not provided [RCV001648998]	benign	4	16186258	16186258	Human		name
150459363	CV1236085	single nucleotide variant	NM_153365.3(TAPT1):c.1314-96G>T	not provided [RCV001649056]	benign	4	16166889	16166889	Human		name
150502847	CV1241662	single nucleotide variant	NM_153365.3(TAPT1):c.917-301C>G	not provided [RCV001657253]	benign	4	16179958	16179958	Human		name
150472869	CV1252314	single nucleotide variant	NM_153365.3(TAPT1):c.917-171T>C	not provided [RCV001671516]	benign	4	16179828	16179828	Human		name
150498593	CV1255605	single nucleotide variant	NM_153365.3(TAPT1):c.917-290A>G	not provided [RCV001676393]	benign	4	16179947	16179947	Human		name
150446208	CV1261330	single nucleotide variant	NM_153365.3(TAPT1):c.1314-73A>G	not provided [RCV001680004]	benign	4	16166866	16166866	Human		name
150437954	CV1262391	single nucleotide variant	NM_153365.3(TAPT1):c.613-241T>A	not provided [RCV001678750]	benign	4	16188596	16188596	Human		name
150484206	CV1263128	single nucleotide variant	NM_153365.3(TAPT1):c.1313+95G>A	not provided [RCV001686528]	benign	4	16170558	16170558	Human		name
150474185	CV1263320	single nucleotide variant	NM_153365.3(TAPT1):c.199+288T>C	not provided [RCV001684842]	benign	4	16225971	16225971	Human		name
150486333	CV1274036	single nucleotide variant	NM_153365.3(TAPT1):c.200-334A>G	not provided [RCV001698915]	benign	4	16214232	16214232	Human		name
150458668	CV1278806	single nucleotide variant	NM_153365.3(TAPT1):c.917-145T>C	not provided [RCV001709423]	benign	4	16179802	16179802	Human		name
150436737	CV1286418	single nucleotide variant	NM_153365.3(TAPT1):c.917-301C>T	not provided [RCV001724494]	benign	4	16179958	16179958	Human		name
150436760	CV1286422	single nucleotide variant	NM_153365.3(TAPT1):c.916+265G>A	not provided [RCV001724498]	benign	4	16186270	16186270	Human		name
150436776	CV1286425	single nucleotide variant	NM_153365.3(TAPT1):c.449+150A>G	not provided [RCV001724501]	benign	4	16202312	16202312	Human		name
150436969	CV1286465	single nucleotide variant	NM_153365.3(TAPT1):c.613-241T>C	not provided [RCV001724543]	benign	4	16188596	16188596	Human		name
151874218	CV1382451	single nucleotide variant	NM_153365.3(TAPT1):c.1314-18T>G	not provided [RCV002019333]	likely benign\|uncertain significance	4	16166811	16166811	Human		name
152123857	CV1563928	single nucleotide variant	NM_153365.3(TAPT1):c.1167+20G>A	not provided [RCV002175935]	likely benign	4	16174650	16174650	Human		name
152093294	CV1570477	single nucleotide variant	NM_153365.3(TAPT1):c.1168-19T>C	not provided [RCV002213024]	benign	4	16174291	16174291	Human		name
152046022	CV1591168	single nucleotide variant	NM_153365.3(TAPT1):c.1474+12C>G	not provided [RCV002188836]	benign	4	16166621	16166621	Human		name
152164789	CV1595586	single nucleotide variant	NM_153365.3(TAPT1):c.1314-14G>A	not provided [RCV002204109]	likely benign	4	16166807	16166807	Human		name
152105852	CV1609552	single nucleotide variant	NM_153365.3(TAPT1):c.1168-15T>C	not provided [RCV002115924]	benign	4	16174287	16174287	Human		name
156115919	CV1952337	single nucleotide variant	NM_153365.3(TAPT1):c.1167+11A>G	not provided [RCV002571673]	likely benign	4	16174659	16174659	Human		name
156311078	CV2082471	single nucleotide variant	NM_153365.3(TAPT1):c.1168-10C>A	not provided [RCV002898720]	likely benign	4	16174282	16174282	Human		name
404981116	CV3121053	single nucleotide variant	NM_153365.3(TAPT1):c.1314-15T>C	not provided [RCV003826045]	likely benign	4	16166808	16166808	Human		name
402475857	CV3183120	single nucleotide variant	NM_153365.3(TAPT1):c.1474+13C>A	not provided [RCV003875183]	likely benign	4	16166620	16166620	Human		name
405269793	CV3197952	single nucleotide variant	NM_153365.3(TAPT1):c.1314-10C>G	TAPT1-related disorder [RCV003899765]	likely benign	4	16166803	16166803	Human		name , trait , alternate_id
405294966	CV3215010	single nucleotide variant	NM_153365.3(TAPT1):c.1107+10T>C	TAPT1-related disorder [RCV003936860]	likely benign	4	16176109	16176109	Human		name , trait , alternate_id
597831000	CV3743738	single nucleotide variant	NM_153365.3(TAPT1):c.1167+18G>A	not provided [RCV005062555]	likely benign	4	16174652	16174652	Human		name
597868155	CV3768084	single nucleotide variant	NM_153365.3(TAPT1):c.1107+18C>A	not provided [RCV005107229]	likely benign	4	16176101	16176101	Human		name
597874621	CV3813004	single nucleotide variant	NM_153365.3(TAPT1):c.1236+12C>T	not provided [RCV005148940]	likely benign	4	16174192	16174192	Human		name
8579335	CV113735	single nucleotide variant	NM_153365.2(TAPT1):c.997+1291A>G	Lung cancer [RCV000094258]	uncertain significance	4	16178286	16178286	Human		name
150331783	CV1163447	single nucleotide variant	NM_153365.3(TAPT1):c.1314-156C>A	not provided [RCV001527943]	benign	4	16166949	16166949	Human		name
150336819	CV1171221	single nucleotide variant	NM_153365.3(TAPT1):c.1313+105G>A	not provided [RCV001541210]	benign	4	16170548	16170548	Human		name
150426614	CV1186721	single nucleotide variant	NM_153365.3(TAPT1):c.1108-189C>T	not provided [RCV001559798]	likely benign	4	16174918	16174918	Human		name
150419262	CV1197197	single nucleotide variant	NM_153365.3(TAPT1):c.1108-261A>G	not provided [RCV001577095]	likely benign	4	16174990	16174990	Human		name
150505470	CV1213536	single nucleotide variant	NM_153365.3(TAPT1):c.1236+206G>A	not provided [RCV001595792]	benign	4	16173998	16173998	Human		name
150445897	CV1215571	single nucleotide variant	NM_153365.3(TAPT1):c.1314-165A>G	not provided [RCV001611164]	benign	4	16166958	16166958	Human		name
150434151	CV1215818	single nucleotide variant	NM_153365.3(TAPT1):c.1314-308A>T	not provided [RCV001609006]	benign	4	16167101	16167101	Human		name
150470149	CV1219193	single nucleotide variant	NM_153365.3(TAPT1):c.1314-291A>T	not provided [RCV001614945]	benign	4	16167084	16167084	Human		name
150439348	CV1221296	single nucleotide variant	NM_153365.3(TAPT1):c.1107+225T>C	not provided [RCV001609990]	benign	4	16175894	16175894	Human		name
150515157	CV1228749	single nucleotide variant	NM_153365.3(TAPT1):c.1108-283T>C	not provided [RCV001638738]	benign	4	16175012	16175012	Human		name
150513012	CV1228869	single nucleotide variant	NM_153365.3(TAPT1):c.1474+295G>A	not provided [RCV001637711]	benign	4	16166338	16166338	Human		name
150509320	CV1229859	single nucleotide variant	NM_153365.3(TAPT1):c.1314-248G>A	not provided [RCV001636439]	benign	4	16167041	16167041	Human		name
150460202	CV1231301	single nucleotide variant	NM_153365.3(TAPT1):c.1313+252T>A	not provided [RCV001640865]	benign	4	16170401	16170401	Human		name
150472946	CV1235145	deletion	NM_153365.3(TAPT1):c.1314-199del	not provided [RCV001651514]	benign	4	16166992	16166992	Human		name
150479086	CV1258197	single nucleotide variant	NM_153365.3(TAPT1):c.1107+258C>T	not provided [RCV001685613]	benign	4	16175861	16175861	Human		name
150445781	CV1261256	single nucleotide variant	NM_153365.3(TAPT1):c.1474+302G>A	not provided [RCV001679930]	benign	4	16166331	16166331	Human		name
150447428	CV1270310	duplication	NM_153365.3(TAPT1):c.1314-219dup	not provided [RCV001691446]	benign	4	16166991	16166992	Human		name
150333929	CV1169034	microsatellite	NM_153365.3(TAPT1):c.917-145TA[8]	not provided [RCV001537539]	likely benign	4	16179788	16179789	Human		name
150433296	CV1203628	microsatellite	NM_153365.3(TAPT1):c.917-145TA[6]	not provided [RCV001581784]	likely benign	4	16179789	16179790	Human		name
150504529	CV1240772	microsatellite	NM_153365.3(TAPT1):c.917-177TA[3]	not provided [RCV001657615]	benign	4	16179827	16179828	Human		name
150478372	CV1218775	microsatellite	NM_153365.3(TAPT1):c.917-169CA[10]	not provided [RCV001616402]	benign	4	16179803	16179806	Human		name
150456177	CV1219316	microsatellite	NM_153365.3(TAPT1):c.917-169CA[11]	not provided [RCV001612663]	benign	4	16179803	16179804	Human		name
151754585	CV1391369	deletion	NM_153365.3(TAPT1):c.613-6_613-3del	not provided [RCV001969542]	uncertain significance	4	16188358	16188361	Human		name
152156646	CV1586046	single nucleotide variant	NM_153365.3(TAPT1):c.6G>A (p.Ala2=)	not provided [RCV002140263]	likely benign	4	16226452	16226452	Human		name
152079865	CV1632526	single nucleotide variant	NM_153365.3(TAPT1):c.15C>G (p.Gly5=)	not provided [RCV002130691]	likely benign	4	16226443	16226443	Human		name
405198119	CV3146735	duplication	NM_153365.3(TAPT1):c.998-17_998-9dup	not provided [RCV003844090]	likely benign	4	16176236	16176237	Human		name
151766564	CV1393870	single nucleotide variant	NM_153365.3(TAPT1):c.30G>A (p.Pro10=)	not provided [RCV002008438]	likely benign\|uncertain significance	4	16226428	16226428	Human		name
152083980	CV1554819	single nucleotide variant	NM_153365.3(TAPT1):c.30G>C (p.Pro10=)	not provided [RCV002211792]	likely benign	4	16226428	16226428	Human		name
156373956	CV2028348	single nucleotide variant	NM_153365.3(TAPT1):c.5C>A (p.Ala2Glu)	not provided [RCV002721755]	uncertain significance	4	16226453	16226453	Human		name
155949905	CV2058665	deletion	NM_153365.3(TAPT1):c.331-15_331-13del	not provided [RCV002816208]	likely benign	4	16202593	16202595	Human		name
156070738	CV2163426	duplication	NM_153365.3(TAPT1):c.612+14_612+16dup	not provided [RCV003020033]	likely benign	4	16191344	16191345	Human		name
405135572	CV2957941	deletion	NM_153365.3(TAPT1):c.1107+1_1107+8del	not provided [RCV003672710]	likely pathogenic	4	16176111	16176118	Human		name
405162537	CV2960416	single nucleotide variant	NM_153365.3(TAPT1):c.1A>G (p.Met1Val)	not provided [RCV003674787]	uncertain significance	4	16226457	16226457	Human		name
404987575	CV3135565	single nucleotide variant	NM_153365.3(TAPT1):c.51C>T (p.Gly17=)	not provided [RCV003826860]	likely benign	4	16226407	16226407	Human		name
597961173	CV3753185	single nucleotide variant	NM_153365.3(TAPT1):c.69G>A (p.Arg23=)	not provided [RCV005081685]	likely benign	4	16226389	16226389	Human		name
597855610	CV3758692	single nucleotide variant	NM_153365.3(TAPT1):c.87G>A (p.Ala29=)	not provided [RCV005088652]	likely benign	4	16226371	16226371	Human		name
597883227	CV3834148	deletion	NM_153365.3(TAPT1):c.997+18_997+22del	not provided [RCV005178467]	likely benign	4	16179555	16179559	Human		name
150433169	CV1230431	single nucleotide variant	NM_153365.3(TAPT1):c.270G>A (p.Lys90=)	not provided [RCV001643376]	benign	4	16213828	16213828	Human		name
150553371	CV1303356	single nucleotide variant	NM_153365.3(TAPT1):c.207A>G (p.Ser69=)	not provided [RCV001769046]	conflicting interpretations of pathogenicity\|uncertain significance	4	16213891	16213891	Human		name
152114476	CV1612434	single nucleotide variant	NM_153365.3(TAPT1):c.114G>A (p.Gln38=)	not provided [RCV002174746]	likely benign	4	16226344	16226344	Human		name
156325052	CV1972639	single nucleotide variant	NM_153365.3(TAPT1):c.123G>A (p.Pro41=)	not provided [RCV002600476]	likely benign	4	16226335	16226335	Human		name
156081932	CV1982874	single nucleotide variant	NM_153365.3(TAPT1):c.120C>T (p.Pro40=)	not provided [RCV002638927]	likely benign	4	16226338	16226338	Human		name
405091233	CV3167915	single nucleotide variant	NM_153365.3(TAPT1):c.135G>A (p.Gln45=)	not provided [RCV003852305]	likely benign	4	16226323	16226323	Human		name
597839040	CV3824881	single nucleotide variant	NM_153365.3(TAPT1):c.20C>G (p.Ala7Gly)	not provided [RCV005171745]	uncertain significance	4	16226438	16226438	Human		name
127275231	CV1071528	single nucleotide variant	NM_153365.3(TAPT1):c.741C>G (p.Leu247=)	not provided [RCV001406656]	likely benign	4	16188227	16188227	Human		name
150417127	CV1179813	microsatellite	NM_153365.3(TAPT1):c.199+155_199+163del	not provided [RCV001549981]	likely benign	4	16226096	16226104	Human		name
150426013	CV1183460	deletion	NM_153365.3(TAPT1):c.917-147_917-144del	not provided [RCV001558790]	likely benign	4	16179801	16179804	Human		name
151866561	CV1342184	single nucleotide variant	NM_153365.3(TAPT1):c.72C>G (p.Asp24Glu)	Inborn genetic diseases [RCV003170214]\|not provided [RCV001997804]	uncertain significance	4	16226386	16226386	Human	1	name
151776727	CV1342629	single nucleotide variant	NM_153365.3(TAPT1):c.77G>A (p.Arg26His)	not provided [RCV001988756]	uncertain significance	4	16226381	16226381	Human		name
151822993	CV1352133	single nucleotide variant	NM_153365.3(TAPT1):c.43G>T (p.Gly15Cys)	Inborn genetic diseases [RCV004970771]\|not provided [RCV002013577]	uncertain significance	4	16226415	16226415	Human	1	name
151826051	CV1442893	single nucleotide variant	NM_153365.3(TAPT1):c.50G>A (p.Gly17Asp)	not provided [RCV002013846]	uncertain significance	4	16226408	16226408	Human		name
152142225	CV1526638	single nucleotide variant	NM_153365.3(TAPT1):c.322T>C (p.Leu108=)	not provided [RCV002084312]	likely benign	4	16213776	16213776	Human		name
152146726	CV1545721	single nucleotide variant	NM_153365.3(TAPT1):c.366G>A (p.Ala122=)	not provided [RCV002157548]	likely benign	4	16202545	16202545	Human		name
152065754	CV1583520	single nucleotide variant	NM_153365.3(TAPT1):c.414A>G (p.Leu138=)	not provided [RCV002110766]	likely benign	4	16202497	16202497	Human		name
152129717	CV1607827	single nucleotide variant	NM_153365.3(TAPT1):c.867T>C (p.Ser289=)	not provided [RCV002176638]	likely benign	4	16186584	16186584	Human		name
152072300	CV1633938	single nucleotide variant	NM_153365.3(TAPT1):c.318A>G (p.Arg106=)	not provided [RCV002191944]	likely benign	4	16213780	16213780	Human		name
152115841	CV1653667	single nucleotide variant	NM_153365.3(TAPT1):c.831C>T (p.Ile277=)	not provided [RCV002153645]	likely benign	4	16186796	16186796	Human		name
155739888	CV1779614	single nucleotide variant	NM_153365.3(TAPT1):c.72C>A (p.Asp24Glu)	not provided [RCV002302245]	uncertain significance	4	16226386	16226386	Human		name
155960275	CV1912070	single nucleotide variant	NM_153365.3(TAPT1):c.915C>T (p.Ser305=)	not provided [RCV002616698]	uncertain significance	4	16186536	16186536	Human		name
155960632	CV2040445	single nucleotide variant	NM_153365.3(TAPT1):c.73G>A (p.Gly25Ser)	not provided [RCV002776251]	uncertain significance	4	16226385	16226385	Human		name
156227252	CV2048402	single nucleotide variant	NM_153365.3(TAPT1):c.70G>A (p.Asp24Asn)	not provided [RCV002790860]	uncertain significance	4	16226388	16226388	Human		name
156248236	CV2168833	single nucleotide variant	NM_153365.3(TAPT1):c.852T>C (p.Val284=)	not provided [RCV003026249]	likely benign	4	16186599	16186599	Human		name
156140905	CV2177872	single nucleotide variant	NM_153365.3(TAPT1):c.474C>A (p.Ala158=)	not provided [RCV003040032]	likely benign	4	16191499	16191499	Human		name
401768199	CV2735210	single nucleotide variant	NM_153365.3(TAPT1):c.64C>G (p.Gln22Glu)	Inborn genetic diseases [RCV003302481]	uncertain significance	4	16226394	16226394	Human	1	name
405171909	CV2897423	single nucleotide variant	NM_153365.3(TAPT1):c.358C>T (p.Leu120=)	not provided [RCV003563117]	likely benign	4	16202553	16202553	Human		name
405075369	CV2941330	single nucleotide variant	NM_153365.3(TAPT1):c.588C>G (p.Leu196=)	not provided [RCV003664179]	likely benign	4	16191385	16191385	Human		name
405031255	CV3129960	single nucleotide variant	NM_153365.3(TAPT1):c.394T>C (p.Leu132=)	not provided [RCV003830559]	likely benign	4	16202517	16202517	Human		name
405141401	CV3131174	single nucleotide variant	NM_153365.3(TAPT1):c.954G>C (p.Leu318=)	not provided [RCV003839214]	likely benign	4	16179620	16179620	Human		name
405114183	CV3133781	single nucleotide variant	NM_153365.3(TAPT1):c.576C>T (p.Ser192=)	not provided [RCV003836575]	likely benign	4	16191397	16191397	Human		name
405058432	CV3134897	single nucleotide variant	NM_153365.3(TAPT1):c.324G>A (p.Leu108=)	not provided [RCV003832569]	likely benign	4	16213774	16213774	Human		name
405054699	CV3138473	single nucleotide variant	NM_153365.3(TAPT1):c.420G>A (p.Arg140=)	not provided [RCV003832317]	likely benign	4	16202491	16202491	Human		name
405216304	CV3160821	single nucleotide variant	NM_153365.3(TAPT1):c.44G>A (p.Gly15Asp)	not provided [RCV003862883]	uncertain significance	4	16226414	16226414	Human		name
405764015	CV3327879	single nucleotide variant	NM_153365.3(TAPT1):c.86C>G (p.Ala29Gly)	Inborn genetic diseases [RCV004469123]	uncertain significance	4	16226372	16226372	Human	1	name
597838103	CV3758148	single nucleotide variant	NM_153365.3(TAPT1):c.666T>C (p.Tyr222=)	not provided [RCV005085982]	likely benign	4	16188302	16188302	Human		name
15155947	CV709220	single nucleotide variant	NM_153365.3(TAPT1):c.675A>G (p.Ala225=)	TAPT1-related disorder [RCV004757352]\|not provided [RCV000969018]	likely benign	4	16188293	16188293	Human	1	name , trait , alternate_id
15155952	CV709221	single nucleotide variant	NM_153365.3(TAPT1):c.306G>A (p.Leu102=)	not provided [RCV000969019]	benign	4	16213792	16213792	Human		name
15202452	CV720822	single nucleotide variant	NM_153365.3(TAPT1):c.942T>C (p.Tyr314=)	not provided [RCV000891477]	benign	4	16179632	16179632	Human		name
15164808	CV734511	single nucleotide variant	NM_153365.3(TAPT1):c.414A>C (p.Leu138=)	not provided [RCV000904085]	likely benign	4	16202497	16202497	Human		name
15170838	CV748802	single nucleotide variant	NM_153365.3(TAPT1):c.387G>C (p.Leu129=)	not provided [RCV000927779]	likely benign	4	16202524	16202524	Human		name
15186138	CV764377	single nucleotide variant	NM_153365.3(TAPT1):c.615A>G (p.Val205=)	not provided [RCV000931266]	likely benign	4	16188353	16188353	Human		name
15112515	CV781900	single nucleotide variant	NM_153365.3(TAPT1):c.309A>G (p.Arg103=)	TAPT1-related disorder [RCV003943265]\|not provided [RCV000977834]	likely benign	4	16213789	16213789	Human	1	name , trait , alternate_id
150458564	CV1202779	single nucleotide variant	NM_153365.3(TAPT1):c.137T>G (p.Leu46Arg)	Complex lethal osteochondrodysplasia [RCV001732217]\|not provided [RCV001586432]	benign\|likely benign	4	16226321	16226321	Human	1	name
151874505	CV1380550	single nucleotide variant	NM_153365.3(TAPT1):c.182G>C (p.Arg61Thr)	not provided [RCV001998770]	uncertain significance	4	16226276	16226276	Human		name
151801745	CV1439439	single nucleotide variant	NM_153365.3(TAPT1):c.165C>G (p.Ser55Arg)	not provided [RCV001991017]	uncertain significance	4	16226293	16226293	Human		name
151853706	CV1485148	single nucleotide variant	NM_153365.3(TAPT1):c.257A>G (p.His86Arg)	not provided [RCV002033505]	uncertain significance	4	16213841	16213841	Human		name
152051535	CV1521472	single nucleotide variant	NM_153365.3(TAPT1):c.1512C>G (p.Thr504=)	not provided [RCV002145749]	likely benign	4	16163500	16163500	Human		name
152093325	CV1584771	single nucleotide variant	NM_153365.3(TAPT1):c.1614G>A (p.Thr538=)	not provided [RCV002114373]	likely benign	4	16163398	16163398	Human		name
152073161	CV1650651	single nucleotide variant	NM_153365.3(TAPT1):c.1581G>A (p.Leu527=)	not provided [RCV002169556]	likely benign	4	16163431	16163431	Human		name
155960247	CV1912069	single nucleotide variant	NM_153365.3(TAPT1):c.1317G>A (p.Leu439=)	not provided [RCV002616697]	likely benign	4	16166790	16166790	Human		name
155952548	CV1922049	single nucleotide variant	NM_153365.3(TAPT1):c.269A>G (p.Lys90Arg)	Inborn genetic diseases [RCV002616301]\|not provided [RCV002616302]	uncertain significance	4	16213829	16213829	Human	1	name
156444339	CV1938197	single nucleotide variant	NM_153365.3(TAPT1):c.1269G>A (p.Val423=)	not provided [RCV003115263]	likely benign	4	16170697	16170697	Human		name
156249499	CV1969687	single nucleotide variant	NM_153365.3(TAPT1):c.1362G>A (p.Ser454=)	not provided [RCV002597423]	likely benign	4	16166745	16166745	Human		name
155916802	CV1980944	single nucleotide variant	NM_153365.3(TAPT1):c.170G>T (p.Arg57Leu)	Inborn genetic diseases [RCV004065896]\|not provided [RCV002614355]	uncertain significance	4	16226288	16226288	Human	1	name
156398312	CV1990846	single nucleotide variant	NM_153365.3(TAPT1):c.1119A>G (p.Glu373=)	not provided [RCV002605358]	likely benign	4	16174718	16174718	Human		name
156205501	CV2076687	single nucleotide variant	NM_153365.3(TAPT1):c.122C>T (p.Pro41Leu)	not provided [RCV002852624]	uncertain significance	4	16226336	16226336	Human		name
155994733	CV2278007	single nucleotide variant	NM_153365.3(TAPT1):c.154T>C (p.Phe52Leu)	Inborn genetic diseases [RCV002882743]	uncertain significance	4	16226304	16226304	Human	1	name
156034075	CV2376644	single nucleotide variant	NM_153365.3(TAPT1):c.121C>T (p.Pro41Ser)	Inborn genetic diseases [RCV002703872]	uncertain significance	4	16226337	16226337	Human	1	name
401748364	CV2696610	single nucleotide variant	NM_153365.3(TAPT1):c.114G>C (p.Gln38His)	Inborn genetic diseases [RCV003242499]	uncertain significance	4	16226344	16226344	Human	1	name
401748370	CV2696612	single nucleotide variant	NM_153365.3(TAPT1):c.137T>A (p.Leu46His)	Inborn genetic diseases [RCV003242501]	uncertain significance	4	16226321	16226321	Human	1	name
405109835	CV2898738	single nucleotide variant	NM_153365.3(TAPT1):c.1044A>G (p.Ser348=)	not provided [RCV003557656]	likely benign	4	16176182	16176182	Human		name
405122123	CV2952535	single nucleotide variant	NM_153365.3(TAPT1):c.1209C>T (p.Gly403=)	not provided [RCV003671544]	likely benign	4	16174231	16174231	Human		name
405214996	CV2967654	single nucleotide variant	NM_153365.3(TAPT1):c.1395G>A (p.Glu465=)	not provided [RCV003679838]	likely benign	4	16166712	16166712	Human		name
405230068	CV3153536	single nucleotide variant	NM_153365.3(TAPT1):c.1053C>T (p.Ala351=)	not provided [RCV003848601]	likely benign	4	16176173	16176173	Human		name
405231424	CV3157315	single nucleotide variant	NM_153365.3(TAPT1):c.1467C>T (p.Pro489=)	not provided [RCV003865265]	likely benign	4	16166640	16166640	Human		name
405205397	CV3165614	single nucleotide variant	NM_153365.3(TAPT1):c.1497G>A (p.Leu499=)	not provided [RCV003861280]	likely benign	4	16163515	16163515	Human		name
405259582	CV3194861	single nucleotide variant	NM_153365.3(TAPT1):c.1233T>C (p.Val411=)	TAPT1-related disorder [RCV003894248]\|not provided [RCV005101554]	likely benign	4	16174207	16174207	Human	1	name , trait , alternate_id
405764000	CV3327876	single nucleotide variant	NM_153365.3(TAPT1):c.100G>A (p.Gly34Ser)	Inborn genetic diseases [RCV004469120]	uncertain significance	4	16226358	16226358	Human	1	name
597908296	CV3738849	single nucleotide variant	NM_153365.3(TAPT1):c.103A>T (p.Ser35Cys)	not provided [RCV005073084]	uncertain significance	4	16226355	16226355	Human		name
597906957	CV3738850	single nucleotide variant	NM_153365.3(TAPT1):c.101G>T (p.Gly34Val)	not provided [RCV005073085]	uncertain significance	4	16226357	16226357	Human		name
597964797	CV3796970	single nucleotide variant	NM_153365.3(TAPT1):c.1374G>A (p.Val458=)	not provided [RCV005139930]	likely benign	4	16166733	16166733	Human		name
597934306	CV3858759	single nucleotide variant	NM_153365.3(TAPT1):c.1146T>C (p.Leu382=)	not provided [RCV005207229]	likely benign	4	16174691	16174691	Human		name
15122853	CV709218	single nucleotide variant	NM_153365.3(TAPT1):c.1413C>T (p.Pro471=)	TAPT1-related disorder [RCV003978399]\|not provided [RCV000963140]	likely benign	4	16166694	16166694	Human	1	name , trait , alternate_id
15100829	CV720821	single nucleotide variant	NM_153365.3(TAPT1):c.1599C>T (p.Asp533=)	TAPT1-related disorder [RCV003920777]\|not provided [RCV000892173]	benign	4	16163413	16163413	Human	1	name , trait , alternate_id
15202970	CV748800	single nucleotide variant	NM_153365.3(TAPT1):c.1437G>A (p.Pro479=)	not provided [RCV000913643]	benign	4	16166670	16166670	Human		name
15197171	CV748801	single nucleotide variant	NM_153365.3(TAPT1):c.1350G>A (p.Leu450=)	not provided [RCV000911902]	likely benign	4	16166757	16166757	Human		name
15110245	CV781899	single nucleotide variant	NM_153365.3(TAPT1):c.1401G>A (p.Leu467=)	not provided [RCV000977398]	likely benign	4	16166706	16166706	Human		name
150417016	CV1179810	duplication	NM_153365.3(TAPT1):c.1314-219_1314-216dup	not provided [RCV001549930]	likely benign	4	16166991	16166992	Human		name
150422263	CV1179811	duplication	NM_153365.3(TAPT1):c.1314-219_1314-213dup	not provided [RCV001552460]	likely benign	4	16166991	16166992	Human		name
150419756	CV1197198	insertion	NM_153365.3(TAPT1):c.917-147_917-146insCT	not provided [RCV001577319]	likely benign	4	16179803	16179804	Human		name
150467597	CV1207123	duplication	NM_153365.3(TAPT1):c.1314-219_1314-217dup	not provided [RCV001587915]	likely benign	4	16166991	16166992	Human		name
150449976	CV1275744	duplication	NM_153365.3(TAPT1):c.1314-219_1314-218dup	not provided [RCV001708199]	benign	4	16166991	16166992	Human		name
151862122	CV1365029	single nucleotide variant	NM_153365.3(TAPT1):c.694A>C (p.Lys232Gln)	not provided [RCV002017881]	uncertain significance	4	16188274	16188274	Human		name
151763943	CV1418504	single nucleotide variant	NM_153365.3(TAPT1):c.433C>A (p.Pro145Thr)	not provided [RCV001928844]	uncertain significance	4	16202478	16202478	Human		name
151722077	CV1419876	single nucleotide variant	NM_153365.3(TAPT1):c.478G>T (p.Val160Leu)	not provided [RCV001983237]	uncertain significance	4	16191495	16191495	Human		name
151713457	CV1464123	single nucleotide variant	NM_153365.3(TAPT1):c.404T>C (p.Phe135Ser)	not provided [RCV001964752]	likely benign\|uncertain significance	4	16202507	16202507	Human		name
151839248	CV1487550	single nucleotide variant	NM_153365.3(TAPT1):c.707T>G (p.Ile236Ser)	not provided [RCV001935904]	uncertain significance	4	16188261	16188261	Human		name
151837821	CV1492385	single nucleotide variant	NM_153365.3(TAPT1):c.837G>A (p.Met279Ile)	not provided [RCV002051407]	uncertain significance	4	16186790	16186790	Human		name
152113655	CV1573523	single nucleotide variant	NM_153365.3(TAPT1):c.763C>T (p.Leu255Phe)	Inborn genetic diseases [RCV005288719]\|not provided [RCV002215837]	likely benign\|uncertain significance	4	16186864	16186864	Human	1	name
155939150	CV1913439	single nucleotide variant	NM_153365.3(TAPT1):c.815A>G (p.Lys272Arg)	not provided [RCV002615513]	uncertain significance	4	16186812	16186812	Human		name
156410414	CV1932334	single nucleotide variant	NM_153365.3(TAPT1):c.365C>T (p.Ala122Val)	Inborn genetic diseases [RCV003368027]\|not provided [RCV002607857]	uncertain significance	4	16202546	16202546	Human	1	name
156073703	CV2015579	single nucleotide variant	NM_153365.3(TAPT1):c.650T>C (p.Ile217Thr)	not provided [RCV002705763]	uncertain significance	4	16188318	16188318	Human		name
155964941	CV2034173	single nucleotide variant	NM_153365.3(TAPT1):c.604A>G (p.Met202Val)	Inborn genetic diseases [RCV004067865]\|not provided [RCV002731349]	uncertain significance	4	16191369	16191369	Human	1	name
156335989	CV2099516	single nucleotide variant	NM_153365.3(TAPT1):c.829A>G (p.Ile277Val)	not provided [RCV002900204]	uncertain significance	4	16186798	16186798	Human		name
329848423	CV2523171	single nucleotide variant	NM_153365.3(TAPT1):c.323T>G (p.Leu108Trp)	Short stature [RCV003224931]	uncertain significance	4	16213775	16213775	Human	2	name
401736124	CV2689263	single nucleotide variant	NM_153365.3(TAPT1):c.704A>C (p.His235Pro)	Inborn genetic diseases [RCV003291232]	uncertain significance	4	16188264	16188264	Human	1	name
597634343	CV3612387	single nucleotide variant	NM_153365.3(TAPT1):c.508G>T (p.Val170Leu)	Inborn genetic diseases [RCV004969311]	uncertain significance	4	16191465	16191465	Human	1	name
597634350	CV3612389	single nucleotide variant	NM_153365.3(TAPT1):c.440A>G (p.Tyr147Cys)	Inborn genetic diseases [RCV004969313]	uncertain significance	4	16202471	16202471	Human	1	name
597634352	CV3612390	single nucleotide variant	NM_153365.3(TAPT1):c.590A>G (p.Tyr197Cys)	Inborn genetic diseases [RCV004969314]	uncertain significance	4	16191383	16191383	Human	1	name
597634356	CV3612391	single nucleotide variant	NM_153365.3(TAPT1):c.581T>C (p.Ile194Thr)	Inborn genetic diseases [RCV004969315]	uncertain significance	4	16191392	16191392	Human	1	name
597942131	CV3757550	single nucleotide variant	NM_153365.3(TAPT1):c.712G>A (p.Val238Met)	not provided [RCV005077736]	uncertain significance	4	16188256	16188256	Human		name
597832886	CV3831379	single nucleotide variant	NM_153365.3(TAPT1):c.943G>A (p.Val315Met)	not provided [RCV005170582]	uncertain significance	4	16179631	16179631	Human		name
598194449	CV3920137	single nucleotide variant	NM_153365.3(TAPT1):c.776A>G (p.Gln259Arg)	Inborn genetic diseases [RCV005289075]	uncertain significance	4	16186851	16186851	Human	1	name
15153875	CV720823	single nucleotide variant	NM_153365.3(TAPT1):c.496G>T (p.Gly166Cys)	not provided [RCV000880099]	benign	4	16191477	16191477	Human		name
15178864	CV720824	single nucleotide variant	NM_153365.3(TAPT1):c.346A>C (p.Ile116Leu)	not provided [RCV000885159]	benign\|likely benign	4	16202565	16202565	Human		name
151727922	CV1242036	single nucleotide variant	NM_153365.3(TAPT1):c.1156C>T (p.Arg386Ter)	Complex lethal osteochondrodysplasia [RCV001844402]	pathogenic\|likely pathogenic	4	16174681	16174681	Human	1	name
151880520	CV1360054	single nucleotide variant	NM_153365.3(TAPT1):c.1161G>C (p.Gln387His)	not provided [RCV002036807]	uncertain significance	4	16174676	16174676	Human		name
151848502	CV1362178	single nucleotide variant	NM_153365.3(TAPT1):c.1613C>T (p.Thr538Met)	Inborn genetic diseases [RCV002563394]\|not provided [RCV001937040]	uncertain significance	4	16163399	16163399	Human	1	name
151762557	CV1372078	single nucleotide variant	NM_153365.3(TAPT1):c.1468T>G (p.Ser490Ala)	Inborn genetic diseases [RCV004970610]\|not provided [RCV001987447]	uncertain significance	4	16166639	16166639	Human	1	name
151876109	CV1376447	single nucleotide variant	NM_153365.3(TAPT1):c.1057G>A (p.Asp353Asn)	not provided [RCV002019556]	uncertain significance	4	16176169	16176169	Human		name
151878989	CV1395488	single nucleotide variant	NM_153365.3(TAPT1):c.1414G>A (p.Ala472Thr)	not provided [RCV001999287]	uncertain significance	4	16166693	16166693	Human		name
151882009	CV1395971	single nucleotide variant	NM_153365.3(TAPT1):c.1581G>C (p.Leu527Phe)	not provided [RCV002037045]	uncertain significance	4	16163431	16163431	Human		name
151844506	CV1408914	single nucleotide variant	NM_153365.3(TAPT1):c.1190C>T (p.Ser397Phe)	not provided [RCV002015736]	uncertain significance	4	16174250	16174250	Human		name
151889559	CV1436049	single nucleotide variant	NM_153365.3(TAPT1):c.1054G>A (p.Val352Met)	Inborn genetic diseases [RCV002564446]\|not provided [RCV001963452]	uncertain significance	4	16176172	16176172	Human	1	name
151809841	CV1459929	single nucleotide variant	NM_153365.3(TAPT1):c.1499C>T (p.Ser500Phe)	Inborn genetic diseases [RCV002549026]\|not provided [RCV002048750]	uncertain significance	4	16163513	16163513	Human	1	name
151778462	CV1472524	single nucleotide variant	NM_153365.3(TAPT1):c.1599C>A (p.Asp533Glu)	not provided [RCV002045914]	uncertain significance	4	16163413	16163413	Human		name
151790123	CV1515321	single nucleotide variant	NM_153365.3(TAPT1):c.1090A>T (p.Asn364Tyr)	not provided [RCV002027141]	uncertain significance	4	16176136	16176136	Human		name
151757151	CV1516054	single nucleotide variant	NM_153365.3(TAPT1):c.1408C>G (p.Pro470Ala)	not provided [RCV002043861]	uncertain significance	4	16166699	16166699	Human		name
155645711	CV1709065	single nucleotide variant	NM_153365.3(TAPT1):c.1599C>G (p.Asp533Glu)	not provided [RCV002291941]	uncertain significance	4	16163413	16163413	Human		name
156050107	CV1923870	single nucleotide variant	NM_153365.3(TAPT1):c.1252A>T (p.Thr418Ser)	not provided [RCV002637905]	uncertain significance	4	16170714	16170714	Human		name
156352709	CV1994591	single nucleotide variant	NM_153365.3(TAPT1):c.1411C>G (p.Pro471Ala)	not provided [RCV002675706]	uncertain significance	4	16166696	16166696	Human		name
156018572	CV2046846	single nucleotide variant	NM_153365.3(TAPT1):c.1474G>A (p.Gly492Ser)	not provided [RCV002780533]	uncertain significance	4	16166633	16166633	Human		name
156022193	CV2055580	single nucleotide variant	NM_153365.3(TAPT1):c.1522A>G (p.Ile508Val)	not provided [RCV002820667]	uncertain significance	4	16163490	16163490	Human		name
156305941	CV2157364	single nucleotide variant	NM_153365.3(TAPT1):c.1322C>T (p.Ser441Phe)	not provided [RCV003028323]	uncertain significance	4	16166785	16166785	Human		name
155922026	CV2208764	single nucleotide variant	NM_153365.3(TAPT1):c.1198C>T (p.Arg400Trp)	Inborn genetic diseases [RCV002727577]	uncertain significance	4	16174242	16174242	Human	1	name
156228855	CV2234929	single nucleotide variant	NM_153365.3(TAPT1):c.1543A>G (p.Ile515Val)	Inborn genetic diseases [RCV002767525]	uncertain significance	4	16163469	16163469	Human	1	name
11059952	CV226776	single nucleotide variant	NM_153365.3(TAPT1):c.1058A>T (p.Asp353Val)	Complex lethal osteochondrodysplasia [RCV000210534]	pathogenic\|likely pathogenic	4	16176168	16176168	Human	1	name
156174078	CV2284211	single nucleotide variant	NM_153365.3(TAPT1):c.1103C>T (p.Ala368Val)	Inborn genetic diseases [RCV002873270]	uncertain significance	4	16176123	16176123	Human	1	name
155990036	CV2285198	single nucleotide variant	NM_153365.3(TAPT1):c.1436C>T (p.Pro479Leu)	Inborn genetic diseases [RCV002882358]	uncertain significance	4	16166671	16166671	Human	1	name
155968775	CV2312875	single nucleotide variant	NM_153365.3(TAPT1):c.1531A>G (p.Lys511Glu)	Inborn genetic diseases [RCV002906730]	uncertain significance	4	16163481	16163481	Human	1	name
156451020	CV2402397	single nucleotide variant	NM_153365.3(TAPT1):c.1319T>C (p.Ile440Thr)	not provided [RCV003123196]	uncertain significance	4	16166788	16166788	Human		name
329356169	CV2442488	single nucleotide variant	NM_153365.3(TAPT1):c.1028G>A (p.Cys343Tyr)	Inborn genetic diseases [RCV003203142]	uncertain significance	4	16176198	16176198	Human	1	name
405692754	CV3227494	single nucleotide variant	NM_153365.3(TAPT1):c.1673G>A (p.Arg558Lys)	Complex lethal osteochondrodysplasia [RCV003991839]	uncertain significance	4	16163339	16163339	Human	1	name
405764005	CV3327877	single nucleotide variant	NM_153365.3(TAPT1):c.1189T>A (p.Ser397Thr)	Inborn genetic diseases [RCV004469121]	uncertain significance	4	16174251	16174251	Human	1	name
405764011	CV3327878	single nucleotide variant	NM_153365.3(TAPT1):c.1507A>G (p.Ile503Val)	Inborn genetic diseases [RCV004469122]	likely benign	4	16163505	16163505	Human	1	name
407530508	CV3475215	single nucleotide variant	NM_153365.3(TAPT1):c.1316T>C (p.Leu439Ser)	Inborn genetic diseases [RCV004681946]	uncertain significance	4	16166791	16166791	Human	1	name
597634339	CV3612386	single nucleotide variant	NM_153365.3(TAPT1):c.1342A>G (p.Ile448Val)	Inborn genetic diseases [RCV004969310]	uncertain significance	4	16166765	16166765	Human	1	name
597634345	CV3612388	single nucleotide variant	NM_153365.3(TAPT1):c.1259C>T (p.Ser420Leu)	Inborn genetic diseases [RCV004969312]	uncertain significance	4	16170707	16170707	Human	1	name
597634360	CV3612392	single nucleotide variant	NM_153365.3(TAPT1):c.1051G>A (p.Ala351Thr)	Inborn genetic diseases [RCV004969316]	uncertain significance	4	16176175	16176175	Human	1	name
598194454	CV3920138	single nucleotide variant	NM_153365.3(TAPT1):c.1400T>G (p.Leu467Arg)	Inborn genetic diseases [RCV005289076]	uncertain significance	4	16166707	16166707	Human	1	name
14978997	CV677968	single nucleotide variant	NM_153365.3(TAPT1):c.1032G>T (p.Met344Ile)	Complex lethal osteochondrodysplasia [RCV000851184]\|not provided [RCV002536175]	pathogenic\|uncertain significance	4	16176194	16176194	Human	1	name
15172856	CV698416	single nucleotide variant	NM_153365.3(TAPT1):c.1565A>G (p.Asn522Ser)	not provided [RCV000950118]\|not specified [RCV001580065]	benign\|likely benign	4	16163447	16163447	Human		name
15150895	CV709219	single nucleotide variant	NM_153365.3(TAPT1):c.1393G>A (p.Glu465Lys)	not provided [RCV000968030]	benign\|likely benign	4	16166714	16166714	Human		name
150545120	CV1315429	microsatellite	NM_153365.3(TAPT1):c.185_186del (p.Arg62fs)	Complex lethal osteochondrodysplasia [RCV001783846]	likely pathogenic	4	16226272	16226273	Human		name
597926789	CV3778541	deletion	NM_153365.3(TAPT1):c.743_744del (p.Tyr248fs)	not provided [RCV005131064]	pathogenic	4	16188224	16188225	Human		name
151739899	CV1437746	deletion	NM_153365.3(TAPT1):c.706_708del (p.Ile236del)	not provided [RCV001870918]	uncertain significance	4	16188260	16188262	Human		name
150426409	CV1186722	insertion	NM_153365.3(TAPT1):c.917-148_917-147insACATATATATATATATATATAT	not provided [RCV001559543]	likely benign	4	16179804	16179805	Human		name
329848764	CV2523512	microsatellite	NM_153365.3(TAPT1):c.917-148_917-147insACACATATATATATATATATATATAT	not provided [RCV003225526]	likely benign	4	16179804	16179805	Human		name

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