Tia1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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311 records found for search term Tia1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
21066993	CV795266	single nucleotide variant	NM_022173.4(TIA1):c.-3G>A	not provided [RCV000997156]	uncertain significance	2	70248433	70248433	Human		name
408366378	CV3500216	single nucleotide variant	NM_022173.4(TIA1):c.-13G>A	not provided [RCV004722259]	likely benign	2	70248443	70248443	Human		name
150336685	CV1170985	single nucleotide variant	NM_022173.4(TIA1):c.-137C>T	not provided [RCV001541114]	benign	2	70248567	70248567	Human		name
150474466	CV1278868	single nucleotide variant	NM_022037.3(TIA1):c.-265A>C	not provided [RCV001713700]	benign	2	70248695	70248695	Human		name
151662876	CV1333513	single nucleotide variant	NM_022173.4(TIA1):c.-158C>G	not provided [RCV001837705]	likely benign	2	70248588	70248588	Human		name
152133368	CV1607364	single nucleotide variant	NM_022173.4(TIA1):c.26+7C>G	Welander distal myopathy [RCV002119367]	likely benign	2	70248398	70248398	Human	1	name
153001298	CV1679958	single nucleotide variant	NM_022173.4(TIA1):c.-166C>T	not provided [RCV002251637]	likely benign	2	70248596	70248596	Human		name
401914565	CV2830748	single nucleotide variant	NM_022173.4(TIA1):c.27-3C>T	not provided [RCV003442486]	uncertain significance	2	70236178	70236178	Human		name
14705669	CV651084	single nucleotide variant	NM_022173.4(TIA1):c.27-6T>A	Welander distal myopathy [RCV000801593]	uncertain significance	2	70236181	70236181	Human	1	name
126759541	CV1024690	single nucleotide variant	NM_022173.4(TIA1):c.277+6T>G	Welander distal myopathy [RCV001340159]	uncertain significance	2	70229258	70229258	Human	1	name
127231622	CV1069819	single nucleotide variant	NM_022173.4(TIA1):c.277+7A>G	Welander distal myopathy [RCV001395400]	likely benign	2	70229257	70229257	Human	1	name
127336744	CV1113033	deletion	NM_022173.4(TIA1):c.679+7del	Welander distal myopathy [RCV001475195]	likely benign	2	70216397	70216397	Human	1	name
127317782	CV1113034	single nucleotide variant	NM_022173.4(TIA1):c.584-5A>C	Welander distal myopathy [RCV001465992]	likely benign	2	70216504	70216504	Human	1	name
127287790	CV1152081	single nucleotide variant	NM_022173.4(TIA1):c.889-1G>T	not provided [RCV001508081]	uncertain significance	2	70214495	70214495	Human		name
150515491	CV1285559	duplication	NM_022173.4(TIA1):c.27-40dup	not provided [RCV001723012]	benign	2	70236202	70236203	Human		name
150529128	CV1288671	single nucleotide variant	NM_022173.4(TIA1):c.475-8C>T	Welander distal myopathy [RCV002073398]\|not provided [RCV001727139]	likely benign	2	70217002	70217002	Human	1	name
151852890	CV1349149	single nucleotide variant	NM_022173.4(TIA1):c.583+1G>A	Welander distal myopathy [RCV001923030]	uncertain significance	2	70216885	70216885	Human	1	name
152053508	CV1523736	single nucleotide variant	NM_022173.4(TIA1):c.27-14T>G	Welander distal myopathy [RCV002127510]	benign	2	70236189	70236189	Human	1	name
152064579	CV1612304	single nucleotide variant	NM_022173.4(TIA1):c.27-13C>G	Welander distal myopathy [RCV002128790]	likely benign	2	70236188	70236188	Human	1	name
152028321	CV1642743	single nucleotide variant	NM_022173.4(TIA1):c.123+7G>A	Welander distal myopathy [RCV002185797]	likely benign	2	70236072	70236072	Human	1	name
152068474	CV1654115	duplication	NM_022173.4(TIA1):c.223-3dup	Welander distal myopathy [RCV002111123]\|not specified [RCV003151385]	benign	2	70229320	70229321	Human	1	name
156316708	CV1879534	single nucleotide variant	NM_022173.4(TIA1):c.26+17G>A	Welander distal myopathy [RCV003062791]	likely benign	2	70248388	70248388	Human	1	name
156383877	CV1975537	single nucleotide variant	NM_022173.4(TIA1):c.277+9A>G	Welander distal myopathy [RCV002604161]	uncertain significance	2	70229255	70229255	Human	1	name
243062973	CV2414091	single nucleotide variant	NM_022173.4(TIA1):c.223-3T>C	Welander distal myopathy [RCV005060972]\|not provided [RCV003141010]	uncertain significance	2	70229321	70229321	Human	1	name
404995781	CV2859612	single nucleotide variant	NM_022173.4(TIA1):c.27-13C>T	Welander distal myopathy [RCV003525630]	likely benign	2	70236188	70236188	Human	1	name
404997745	CV2879303	single nucleotide variant	NM_022173.4(TIA1):c.680-5A>G	Welander distal myopathy [RCV003525822]	likely benign	2	70216297	70216297	Human	1	name
405009327	CV2893911	single nucleotide variant	NM_022173.4(TIA1):c.223-4T>G	Welander distal myopathy [RCV003527091]	likely benign	2	70229322	70229322	Human	1	name
405012402	CV2899671	single nucleotide variant	NM_022173.4(TIA1):c.27-11T>C	Welander distal myopathy [RCV003527308]	likely benign	2	70236186	70236186	Human	1	name
405193069	CV2946518	single nucleotide variant	NM_022173.4(TIA1):c.124-1G>A	Welander distal myopathy [RCV003641115]	uncertain significance	2	70230855	70230855	Human	1	name
405188391	CV3017496	single nucleotide variant	NM_022173.4(TIA1):c.680-7C>G	Welander distal myopathy [RCV003640512]	likely benign	2	70216299	70216299	Human	1	name
405700223	CV3227261	single nucleotide variant	NM_022173.4(TIA1):c.889-1G>A	Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia [RCV003993613]	uncertain significance	2	70214495	70214495	Human	1	name
596943735	CV3544358	single nucleotide variant	NM_022173.4(TIA1):c.765-8T>C	not specified [RCV004800838]	uncertain significance	2	70215502	70215502	Human		name
597889586	CV3739422	single nucleotide variant	NM_022173.4(TIA1):c.311-8C>G	Welander distal myopathy [RCV005070969]	likely benign	2	70227830	70227830	Human	1	name
597874324	CV3775475	single nucleotide variant	NM_022173.4(TIA1):c.474+1G>A	Welander distal myopathy [RCV005123205]	uncertain significance	2	70224553	70224553	Human	1	name
597926455	CV3783311	single nucleotide variant	NM_022173.4(TIA1):c.583+7G>A	Welander distal myopathy [RCV005115997]	likely benign	2	70216879	70216879	Human	1	name
597899584	CV3796445	single nucleotide variant	NM_022173.4(TIA1):c.222+5G>A	Welander distal myopathy [RCV005152528]	uncertain significance	2	70230751	70230751	Human	1	name
597971059	CV3802423	single nucleotide variant	NM_022173.4(TIA1):c.679+6G>A	Welander distal myopathy [RCV005142021]	uncertain significance	2	70216398	70216398	Human	1	name
597873789	CV3836357	single nucleotide variant	NM_022173.4(TIA1):c.124-7C>T	Welander distal myopathy [RCV005177154]	likely benign	2	70230861	70230861	Human	1	name
13484010	CV440723	deletion	NM_022173.4(TIA1):c.223-3del	TIA1-related disorder [RCV003979931]\|Welander distal myopathy [RCV001520370]\|not specified [RCV000518338]	benign\|likely benign	2	70229321	70229321	Human	2	name , trait , alternate_id
13493961	CV451388	single nucleotide variant	NM_022173.4(TIA1):c.223-3T>A	Welander distal myopathy [RCV000558558]	uncertain significance	2	70229321	70229321	Human	1	name
13471328	CV451747	single nucleotide variant	NM_022173.4(TIA1):c.475-3C>T	Welander distal myopathy [RCV000546784]\|not provided [RCV005000141]	uncertain significance	2	70216997	70216997	Human	1	name
38494405	CV960489	single nucleotide variant	NM_022173.4(TIA1):c.398+3A>G	Welander distal myopathy [RCV001241291]	uncertain significance	2	70227732	70227732	Human	1	name
127235333	CV1069816	duplication	NM_022173.4(TIA1):c.680-15dup	Welander distal myopathy [RCV001391846]	likely benign	2	70216301	70216302	Human	1	name
150510319	CV1211561	duplication	NM_022173.4(TIA1):c.222+89dup	not provided [RCV001597353]	benign	2	70230652	70230653	Human		name
150441192	CV1233504	duplication	NM_022173.4(TIA1):c.123+32dup	not provided [RCV001645192]	benign	2	70236036	70236037	Human		name
150502561	CV1254563	single nucleotide variant	NM_022173.4(TIA1):c.277+58G>A	not provided [RCV001677265]	benign	2	70229206	70229206	Human		name
150466448	CV1268774	deletion	NM_022173.4(TIA1):c.474+81del	not provided [RCV001694471]	benign	2	70224473	70224473	Human		name
150515498	CV1285561	single nucleotide variant	NM_022173.4(TIA1):c.398+73C>G	not provided [RCV001723014]	benign	2	70227662	70227662	Human		name
150504617	CV1285993	single nucleotide variant	NM_022173.4(TIA1):c.399-23C>T	not provided [RCV001719416]	benign	2	70224652	70224652	Human		name
151712431	CV1334423	single nucleotide variant	NM_022173.4(TIA1):c.26+122C>T	not provided [RCV001840897]	likely benign	2	70248283	70248283	Human		name
151842675	CV1363181	single nucleotide variant	NM_022173.4(TIA1):c.679+16C>G	Welander distal myopathy [RCV002032010]	likely benign\|uncertain significance	2	70216388	70216388	Human	1	name
151732580	CV1386387	single nucleotide variant	NM_022173.4(TIA1):c.310+19A>G	Welander distal myopathy [RCV001911032]	likely benign\|uncertain significance	2	70229040	70229040	Human	1	name
152038652	CV1524209	single nucleotide variant	NM_022173.4(TIA1):c.1035-6C>A	Welander distal myopathy [RCV002125751]	likely benign	2	70212851	70212851	Human	1	name
152173938	CV1567418	single nucleotide variant	NM_022173.4(TIA1):c.277+12T>A	Welander distal myopathy [RCV002144278]	likely benign	2	70229252	70229252	Human	1	name
152130661	CV1567754	single nucleotide variant	NM_022173.4(TIA1):c.1035-7C>T	Welander distal myopathy [RCV002218024]	likely benign	2	70212852	70212852	Human	1	name
152151442	CV1578171	single nucleotide variant	NM_022173.4(TIA1):c.278-17C>G	Welander distal myopathy [RCV002158255]	likely benign	2	70229108	70229108	Human	1	name
152083122	CV1647795	single nucleotide variant	NM_022173.4(TIA1):c.310+12T>C	Welander distal myopathy [RCV002076636]	likely benign	2	70229047	70229047	Human	1	name
153001229	CV1679943	single nucleotide variant	NM_022173.4(TIA1):c.223-34G>A	not provided [RCV002251622]	likely benign	2	70229352	70229352	Human		name
153001244	CV1679946	single nucleotide variant	NM_022173.4(TIA1):c.277+27A>G	not provided [RCV002251625]	likely benign	2	70229237	70229237	Human		name
153001406	CV1679988	single nucleotide variant	NM_022173.4(TIA1):c.123+94T>C	not provided [RCV002251667]	likely benign	2	70235985	70235985	Human		name
156410654	CV1882662	single nucleotide variant	NM_022173.4(TIA1):c.889-15A>G	Welander distal myopathy [RCV003072159]	likely benign	2	70214509	70214509	Human	1	name
156298841	CV1955459	single nucleotide variant	NM_022173.4(TIA1):c.124-14T>G	Welander distal myopathy [RCV002578137]	likely benign	2	70230868	70230868	Human	1	name
156344935	CV1995107	single nucleotide variant	NM_022173.4(TIA1):c.474+11T>C	Welander distal myopathy [RCV002650520]	likely benign	2	70224543	70224543	Human	1	name
156390171	CV1998618	single nucleotide variant	NM_022173.4(TIA1):c.764+10G>T	Welander distal myopathy [RCV002680684]	likely benign	2	70216198	70216198	Human	1	name
156168935	CV2019908	single nucleotide variant	NM_022173.4(TIA1):c.277+15T>C	Welander distal myopathy [RCV002710424]	likely benign	2	70229249	70229249	Human	1	name
156278164	CV2046521	single nucleotide variant	NM_022173.4(TIA1):c.223-16A>C	Welander distal myopathy [RCV002770286]	likely benign	2	70229334	70229334	Human	1	name
156217493	CV2084540	single nucleotide variant	NM_022173.4(TIA1):c.475-11G>T	Welander distal myopathy [RCV002853078]	uncertain significance	2	70217005	70217005	Human	1	name
155948680	CV2132918	single nucleotide variant	NM_022173.4(TIA1):c.222+11G>A	Welander distal myopathy [RCV002994499]	likely benign	2	70230745	70230745	Human	1	name
156026245	CV2139195	single nucleotide variant	NM_022173.4(TIA1):c.584-14T>A	Welander distal myopathy [RCV002998935]	uncertain significance	2	70216513	70216513	Human	1	name
155957258	CV2162925	single nucleotide variant	NM_022173.4(TIA1):c.1035-8T>C	Welander distal myopathy [RCV003015170]	likely benign	2	70212853	70212853	Human	1	name
156026864	CV2185641	single nucleotide variant	NM_022173.4(TIA1):c.311-20C>T	Welander distal myopathy [RCV003036006]	likely benign	2	70227842	70227842	Human	1	name
11543379	CV250768	single nucleotide variant	NM_022173.4(TIA1):c.679+18G>T	Welander distal myopathy [RCV002058319]\|not provided [RCV004710668]\|not specified [RCV000242380]	benign\|likely benign	2	70216386	70216386	Human	1	name
405007206	CV2885743	single nucleotide variant	NM_022173.4(TIA1):c.223-14T>A	Welander distal myopathy [RCV003526905]	likely benign	2	70229332	70229332	Human	1	name
405009637	CV2887432	single nucleotide variant	NM_022173.4(TIA1):c.399-14G>T	Welander distal myopathy [RCV003527121]	likely benign	2	70224643	70224643	Human	1	name
405000451	CV2914094	single nucleotide variant	NM_022173.4(TIA1):c.889-17T>C	Welander distal myopathy [RCV003526243]	likely benign	2	70214511	70214511	Human	1	name
405197253	CV2983824	single nucleotide variant	NM_022173.4(TIA1):c.223-15A>T	Welander distal myopathy [RCV003641664]	likely benign	2	70229333	70229333	Human	1	name
405188870	CV3025427	single nucleotide variant	NM_022173.4(TIA1):c.399-19T>G	Welander distal myopathy [RCV003640567]	likely benign	2	70224648	70224648	Human	1	name
405199546	CV3056677	single nucleotide variant	NM_022173.4(TIA1):c.123+15C>G	Welander distal myopathy [RCV003641989]	likely benign	2	70236064	70236064	Human	1	name
405200487	CV3061557	single nucleotide variant	NM_022173.4(TIA1):c.765-14A>G	Welander distal myopathy [RCV003642104]	likely benign	2	70215508	70215508	Human	1	name
405214911	CV3160636	single nucleotide variant	NM_022173.4(TIA1):c.1035-9C>G	Welander distal myopathy [RCV003862698]	likely benign	2	70212854	70212854	Human	1	name
402525230	CV3175963	single nucleotide variant	NM_022173.4(TIA1):c.680-16G>T	Welander distal myopathy [RCV003880063]	likely benign	2	70216308	70216308	Human	1	name
597890342	CV3762861	single nucleotide variant	NM_022173.4(TIA1):c.222+11G>T	Welander distal myopathy [RCV005110634]	likely benign	2	70230745	70230745	Human	1	name
597929219	CV3783926	duplication	NM_022173.4(TIA1):c.277+14dup	Welander distal myopathy [RCV005116406]	likely benign	2	70229249	70229250	Human	1	name
597948657	CV3801213	single nucleotide variant	NM_022173.4(TIA1):c.311-11C>T	Welander distal myopathy [RCV005135393]	likely benign	2	70227833	70227833	Human	1	name
597969721	CV3832001	single nucleotide variant	NM_022173.4(TIA1):c.474+17G>A	Welander distal myopathy [RCV005166257]	likely benign	2	70224537	70224537	Human	1	name
597963310	CV3841486	single nucleotide variant	NM_022173.4(TIA1):c.889-14A>T	Welander distal myopathy [RCV005193590]	likely benign	2	70214508	70214508	Human	1	name
597920729	CV3842783	single nucleotide variant	NM_022173.4(TIA1):c.888+18T>C	Welander distal myopathy [RCV005184268]	likely benign	2	70215353	70215353	Human	1	name
13616713	CV518657	single nucleotide variant	NM_022173.4(TIA1):c.764+10G>A	Welander distal myopathy [RCV000633710]	likely benign	2	70216198	70216198	Human	1	name
15125977	CV695152	single nucleotide variant	NM_022173.4(TIA1):c.398+10A>G	Welander distal myopathy [RCV000875040]	likely benign	2	70227725	70227725	Human	1	name
15107654	CV774726	single nucleotide variant	NM_022173.4(TIA1):c.474+10G>T	Welander distal myopathy [RCV001452954]	likely benign	2	70224544	70224544	Human	1	name
150333865	CV1168936	single nucleotide variant	NM_022173.4(TIA1):c.223-136G>A	not provided [RCV001537512]	benign	2	70229454	70229454	Human		name
150463822	CV1214840	single nucleotide variant	NM_022173.4(TIA1):c.889-149T>G	not provided [RCV001613835]	benign	2	70214643	70214643	Human		name
150482601	CV1223451	single nucleotide variant	NM_022173.4(TIA1):c.310+284T>C	not provided [RCV001617164]	benign	2	70228775	70228775	Human		name
150501310	CV1223672	single nucleotide variant	NM_022173.4(TIA1):c.889-157T>G	not provided [RCV001620793]	benign	2	70214651	70214651	Human		name
150508939	CV1244955	single nucleotide variant	NM_022173.4(TIA1):c.765-166A>G	not provided [RCV001659206]	benign	2	70215660	70215660	Human		name
150484047	CV1247057	single nucleotide variant	NM_022173.4(TIA1):c.222+279G>A	not provided [RCV001673553]	benign	2	70230477	70230477	Human		name
150443717	CV1249317	single nucleotide variant	NM_022173.4(TIA1):c.222+260G>A	not provided [RCV001666749]	benign	2	70230496	70230496	Human		name
150466961	CV1255827	single nucleotide variant	NM_022173.4(TIA1):c.311-250G>A	not provided [RCV001670461]	benign	2	70228072	70228072	Human		name
150496784	CV1255989	single nucleotide variant	NM_022173.4(TIA1):c.474+284C>G	not provided [RCV001676084]	benign	2	70224270	70224270	Human		name
150444494	CV1258527	duplication	NM_022173.4(TIA1):c.124-290dup	not provided [RCV001679725]	benign	2	70231135	70231136	Human		name
150495787	CV1272719	single nucleotide variant	NM_022173.4(TIA1):c.475-310C>A	not provided [RCV001688642]	benign	2	70217304	70217304	Human		name
150514971	CV1285383	single nucleotide variant	NM_022173.4(TIA1):c.222+148A>G	not provided [RCV001722836]	benign	2	70230608	70230608	Human		name
150504607	CV1285991	single nucleotide variant	NM_022173.4(TIA1):c.764+175A>G	not provided [RCV001719414]	benign	2	70216033	70216033	Human		name
150520950	CV1290695	deletion	NM_022173.4(TIA1):c.222+103del	not provided [RCV001732376]	likely benign	2	70230653	70230653	Human		name
150521012	CV1290783	single nucleotide variant	NM_022173.4(TIA1):c.889-152T>G	not provided [RCV001732442]	likely benign	2	70214646	70214646	Human		name
151348008	CV1325235	single nucleotide variant	NM_022173.4(TIA1):c.474+184C>T	not provided [RCV001813877]	likely benign	2	70224370	70224370	Human		name
152154648	CV1519951	single nucleotide variant	NM_022173.4(TIA1):c.1034+20T>C	Welander distal myopathy [RCV002140016]	likely benign	2	70214329	70214329	Human	1	name
152058292	CV1523312	single nucleotide variant	NM_022173.4(TIA1):c.1035-20T>G	Welander distal myopathy [RCV002167707]	likely benign	2	70212865	70212865	Human	1	name
152026745	CV1583075	single nucleotide variant	NM_022173.4(TIA1):c.1035-14A>G	Welander distal myopathy [RCV002084900]	likely benign	2	70212859	70212859	Human	1	name
153304278	CV1690680	single nucleotide variant	NM_022173.4(TIA1):c.765-104G>A	not provided [RCV002269724]	likely benign	2	70215598	70215598	Human		name
153304280	CV1690681	single nucleotide variant	NM_022173.4(TIA1):c.889-174T>C	not provided [RCV002269725]	likely benign	2	70214668	70214668	Human		name
155645108	CV1710588	single nucleotide variant	NM_022173.4(TIA1):c.888+180A>T	not provided [RCV002293884]	likely benign	2	70215191	70215191	Human		name
156286537	CV1907437	single nucleotide variant	NM_022173.4(TIA1):c.1035-13C>T	Welander distal myopathy [RCV003087306]	likely benign	2	70212858	70212858	Human	1	name
597832110	CV3740121	single nucleotide variant	NM_022173.4(TIA1):c.1035-15C>A	Welander distal myopathy [RCV005062820]	likely benign	2	70212860	70212860	Human	1	name
150481338	CV1222145	single nucleotide variant	NM_022173.4(TIA1):c.1034+120C>T	not provided [RCV001616943]	benign	2	70214229	70214229	Human		name
150513109	CV1228901	duplication	NM_022173.4(TIA1):c.1034+149dup	not provided [RCV001637743]	benign	2	70214199	70214200	Human		name
329352434	CV2476800	microsatellite	NM_022173.4(TIA1):c.26+2_26+3del	not provided [RCV003223032]	uncertain significance	2	70248402	70248403	Human		name
156409971	CV1891852	deletion	NM_022173.4(TIA1):c.223-5_223-3del	Welander distal myopathy [RCV003071884]	benign	2	70229321	70229323	Human	1	name
156101135	CV1920749	deletion	NM_022173.4(TIA1):c.223-6_223-3del	Welander distal myopathy [RCV002592279]	uncertain significance	2	70229321	70229324	Human	1	name
597968214	CV3820863	duplication	NM_022173.4(TIA1):c.123+2_123+8dup	Welander distal myopathy [RCV005165704]	uncertain significance	2	70236070	70236071	Human	1	name
14709676	CV651007	duplication	NM_022173.4(TIA1):c.277+3_277+5dup	Welander distal myopathy [RCV000812552]\|not provided [RCV003141826]\|not specified [RCV005418361]	uncertain significance	2	70229258	70229259	Human	1	name
127252555	CV1091538	single nucleotide variant	NM_022173.4(TIA1):c.42T>C (p.Leu14=)	Welander distal myopathy [RCV001436825]	likely benign	2	70236160	70236160	Human	1	name
127298761	CV1154194	single nucleotide variant	NM_022173.4(TIA1):c.93A>G (p.Gly31=)	Welander distal myopathy [RCV001513400]	benign	2	70236109	70236109	Human	1	name
150487194	CV1225868	duplication	NM_022173.4(TIA1):c.222+89_222+90dup	not provided [RCV001618029]	benign	2	70230652	70230653	Human		name
151804052	CV1424744	microsatellite	NM_022173.4(TIA1):c.475-12_475-10del	Welander distal myopathy [RCV001867387]	likely benign\|uncertain significance	2	70217004	70217006	Human		name
152109336	CV1556537	duplication	NM_022173.4(TIA1):c.474+15_474+17dup	Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia [RCV005361960]\|Welander distal myopathy [RCV002096629]	likely benign\|uncertain significance	2	70224536	70224537	Human	2	name
152106202	CV1572667	deletion	NM_022173.4(TIA1):c.398+11_398+12del	Welander distal myopathy [RCV002152429]	likely benign	2	70227723	70227724	Human	1	name
156232272	CV2039816	microsatellite	NM_022173.4(TIA1):c.680-22_680-19del	Welander distal myopathy [RCV002805358]	likely benign	2	70216311	70216314	Human		name
156337658	CV2057854	deletion	NM_022173.4(TIA1):c.584-20_584-19del	Welander distal myopathy [RCV002811025]	likely benign	2	70216518	70216519	Human	1	name
155916558	CV2063189	microsatellite	NM_022173.4(TIA1):c.310+14_310+16del	Welander distal myopathy [RCV002838093]	likely benign	2	70229043	70229045	Human		name
155955360	CV2086932	single nucleotide variant	NM_022173.4(TIA1):c.3G>A (p.Met1Ile)	Welander distal myopathy [RCV002862570]	uncertain significance	2	70248428	70248428	Human	1	name
404997848	CV2867836	single nucleotide variant	NM_022173.4(TIA1):c.45C>T (p.Ser15=)	Welander distal myopathy [RCV003525770]	likely benign	2	70236157	70236157	Human	1	name
405200977	CV3063194	single nucleotide variant	NM_022173.4(TIA1):c.7G>A (p.Asp3Asn)	Welander distal myopathy [RCV003642187]	uncertain significance	2	70248424	70248424	Human	1	name
12898481	CV406005	single nucleotide variant	NM_022173.4(TIA1):c.1A>G (p.Met1Val)	not provided [RCV000477997]	uncertain significance	2	70248430	70248430	Human		name
13495041	CV451558	single nucleotide variant	NM_022173.4(TIA1):c.75A>G (p.Gln25=)	Welander distal myopathy [RCV001516706]	benign	2	70236127	70236127	Human	1	name
13484138	CV451783	single nucleotide variant	NM_022173.4(TIA1):c.33C>T (p.Val11=)	Welander distal myopathy [RCV000530190]	likely benign	2	70236169	70236169	Human	1	name
15126042	CV691192	single nucleotide variant	NM_022173.4(TIA1):c.48A>G (p.Arg16=)	Welander distal myopathy [RCV000875051]\|not provided [RCV004711349]\|not specified [RCV005418384]	likely benign	2	70236154	70236154	Human	1	name
15106105	CV691193	single nucleotide variant	NM_022173.4(TIA1):c.30C>T (p.Tyr10=)	Welander distal myopathy [RCV001520197]	benign	2	70236172	70236172	Human	1	name
127240000	CV1069820	single nucleotide variant	NM_022173.4(TIA1):c.207G>A (p.Arg69=)	Welander distal myopathy [RCV001397685]	likely benign	2	70230771	70230771	Human	1	name
127315753	CV1113036	single nucleotide variant	NM_022173.4(TIA1):c.237T>C (p.Asn79=)	Welander distal myopathy [RCV001465302]	likely benign	2	70229304	70229304	Human	1	name
127288811	CV1113037	single nucleotide variant	NM_022173.4(TIA1):c.205C>A (p.Arg69=)	Welander distal myopathy [RCV001450636]	likely benign	2	70230773	70230773	Human	1	name
150504587	CV1285987	deletion	NM_022173.4(TIA1):c.765-103_765-97del	not provided [RCV001719410]	benign	2	70215591	70215597	Human		name
152127223	CV1572057	single nucleotide variant	NM_022173.4(TIA1):c.228C>G (p.Val76=)	Welander distal myopathy [RCV002217577]	likely benign	2	70229313	70229313	Human	1	name
156230416	CV2140951	single nucleotide variant	NM_022173.4(TIA1):c.264G>A (p.Lys88=)	Welander distal myopathy [RCV003007720]	likely benign	2	70229277	70229277	Human	1	name
405163286	CV3153186	single nucleotide variant	NM_022173.4(TIA1):c.159T>C (p.Phe53=)	Welander distal myopathy [RCV003840921]	likely benign	2	70230819	70230819	Human	1	name
596931281	CV3531616	single nucleotide variant	NM_022173.4(TIA1):c.10G>C (p.Glu4Gln)	not provided [RCV004781178]	uncertain significance	2	70248421	70248421	Human		name
597906033	CV3738657	insertion	NM_022173.4(TIA1):c.310+17_310+18insC	Welander distal myopathy [RCV005072891]	likely benign	2	70229041	70229042	Human	1	name
15127188	CV691191	single nucleotide variant	NM_022173.4(TIA1):c.187T>C (p.Leu63=)	TIA1-related disorder [RCV003908314]\|Welander distal myopathy [RCV000875260]	likely benign	2	70230791	70230791	Human	2	name , trait , alternate_id
127256058	CV1069817	single nucleotide variant	NM_022173.4(TIA1):c.615T>G (p.Val205=)	Welander distal myopathy [RCV001418965]	likely benign	2	70216468	70216468	Human	1	name
127249028	CV1091535	single nucleotide variant	NM_022173.4(TIA1):c.951A>G (p.Gln317=)	Welander distal myopathy [RCV001425037]	likely benign	2	70214432	70214432	Human	1	name
127282064	CV1091536	single nucleotide variant	NM_022173.4(TIA1):c.480T>C (p.Ala160=)	Welander distal myopathy [RCV001447599]	likely benign	2	70216989	70216989	Human	1	name
127249767	CV1091537	single nucleotide variant	NM_022173.4(TIA1):c.321T>C (p.His107=)	Welander distal myopathy [RCV001425209]	likely benign	2	70227812	70227812	Human	1	name
127329269	CV1113032	single nucleotide variant	NM_022173.4(TIA1):c.846T>C (p.Tyr282=)	Welander distal myopathy [RCV001470083]	likely benign	2	70215413	70215413	Human	1	name
127314107	CV1113035	single nucleotide variant	NM_022173.4(TIA1):c.561C>T (p.Pro187=)	Welander distal myopathy [RCV001464858]	likely benign	2	70216908	70216908	Human	1	name
127316262	CV1133939	single nucleotide variant	NM_022173.4(TIA1):c.738T>C (p.Phe246=)	Welander distal myopathy [RCV001482759]	likely benign	2	70216234	70216234	Human	1	name
127337932	CV1133940	single nucleotide variant	NM_022173.4(TIA1):c.540C>T (p.Asn180=)	Welander distal myopathy [RCV001493288]	likely benign	2	70216929	70216929	Human	1	name
127294221	CV1133941	single nucleotide variant	NM_022173.4(TIA1):c.504T>C (p.Gly168=)	Welander distal myopathy [RCV001496933]	likely benign	2	70216965	70216965	Human	1	name
127287590	CV1133942	single nucleotide variant	NM_022173.4(TIA1):c.432A>G (p.Gly144=)	Welander distal myopathy [RCV001494954]	likely benign	2	70224596	70224596	Human	1	name
151841827	CV1379546	single nucleotide variant	NM_022173.4(TIA1):c.603A>G (p.Ser201=)	Welander distal myopathy [RCV001936214]	likely benign\|uncertain significance	2	70216480	70216480	Human	1	name
151756698	CV1414314	single nucleotide variant	NM_022173.4(TIA1):c.507C>T (p.Gly169=)	Welander distal myopathy [RCV001894865]	uncertain significance	2	70216962	70216962	Human	1	name
151784454	CV1434695	single nucleotide variant	NM_022173.4(TIA1):c.41T>G (p.Leu14Arg)	Welander distal myopathy [RCV001897544]	uncertain significance	2	70236161	70236161	Human	1	name
152084669	CV1525523	single nucleotide variant	NM_022173.4(TIA1):c.405C>A (p.Ala135=)	Welander distal myopathy [RCV002131274]	likely benign	2	70224623	70224623	Human	1	name
152171565	CV1544252	single nucleotide variant	NM_022173.4(TIA1):c.339C>T (p.Leu113=)	Welander distal myopathy [RCV002162158]	likely benign	2	70227794	70227794	Human	1	name
152091341	CV1602844	single nucleotide variant	NM_022173.4(TIA1):c.645T>G (p.Thr215=)	Welander distal myopathy [RCV002194339]	likely benign	2	70216438	70216438	Human	1	name
156368085	CV1925864	single nucleotide variant	NM_022173.4(TIA1):c.852C>G (p.Gly284=)	Welander distal myopathy [RCV002633164]	likely benign	2	70215407	70215407	Human	1	name
156446212	CV1951246	single nucleotide variant	NM_022173.4(TIA1):c.31G>A (p.Val11Ile)	Welander distal myopathy [RCV003117179]	uncertain significance	2	70236171	70236171	Human	1	name
156337185	CV1988407	single nucleotide variant	NM_022173.4(TIA1):c.450C>T (p.Gly150=)	Welander distal myopathy [RCV002631245]	likely benign	2	70224578	70224578	Human	1	name
156159435	CV2095094	single nucleotide variant	NM_022173.4(TIA1):c.486C>T (p.Asn162=)	Welander distal myopathy [RCV002890933]	likely benign	2	70216983	70216983	Human	1	name
155999589	CV2168983	single nucleotide variant	NM_022173.4(TIA1):c.378T>C (p.Phe126=)	Welander distal myopathy [RCV003017210]	likely benign	2	70227755	70227755	Human	1	name
405006000	CV2891201	single nucleotide variant	NM_022173.4(TIA1):c.324C>T (p.Val108=)	Welander distal myopathy [RCV003526794]	likely benign	2	70227809	70227809	Human	1	name
405001735	CV2918317	single nucleotide variant	NM_022173.4(TIA1):c.456C>T (p.Val152=)	Welander distal myopathy [RCV003526386]	likely benign	2	70224572	70224572	Human	1	name
405014815	CV2919691	single nucleotide variant	NM_022173.4(TIA1):c.747A>G (p.Lys249=)	Welander distal myopathy [RCV003527596]	likely benign	2	70216225	70216225	Human	1	name
405195808	CV2972542	single nucleotide variant	NM_022173.4(TIA1):c.447T>C (p.Tyr149=)	Welander distal myopathy [RCV003641453]	likely benign	2	70224581	70224581	Human	1	name
405190570	CV3034239	single nucleotide variant	NM_022173.4(TIA1):c.978T>A (p.Gly326=)	Welander distal myopathy [RCV003640790]	likely benign	2	70214405	70214405	Human	1	name
405199127	CV3055172	single nucleotide variant	NM_022173.4(TIA1):c.384A>G (p.Pro128=)	Welander distal myopathy [RCV003641937]	likely benign	2	70227749	70227749	Human	1	name
405199872	CV3063520	single nucleotide variant	NM_022173.4(TIA1):c.843C>T (p.Cys281=)	Welander distal myopathy [RCV003642030]	likely benign	2	70215416	70215416	Human	1	name
405218997	CV3154198	single nucleotide variant	NM_022173.4(TIA1):c.759T>C (p.Phe253=)	Welander distal myopathy [RCV003846890]	likely benign	2	70216213	70216213	Human	1	name
407573319	CV3499121	single nucleotide variant	NM_022173.4(TIA1):c.315T>C (p.His105=)	not specified [RCV004700093]	likely benign	2	70227818	70227818	Human		name
597904549	CV3784611	single nucleotide variant	NM_022173.4(TIA1):c.915T>G (p.Pro305=)	Welander distal myopathy [RCV005127662]	likely benign	2	70214468	70214468	Human	1	name
597855270	CV3821781	single nucleotide variant	NM_022173.4(TIA1):c.903A>G (p.Gly301=)	Welander distal myopathy [RCV005174259]	likely benign	2	70214480	70214480	Human	1	name
597901523	CV3845456	single nucleotide variant	NM_022173.4(TIA1):c.567A>C (p.Pro189=)	Welander distal myopathy [RCV005181266]	likely benign	2	70216902	70216902	Human	1	name
597884643	CV3858117	single nucleotide variant	NM_022173.4(TIA1):c.882G>A (p.Val294=)	Welander distal myopathy [RCV005199545]	likely benign	2	70215377	70215377	Human	1	name
13494293	CV451557	single nucleotide variant	NM_022173.4(TIA1):c.978T>C (p.Gly326=)	Welander distal myopathy [RCV000536301]\|not provided [RCV004708929]	benign	2	70214405	70214405	Human	1	name
13493235	CV451745	single nucleotide variant	NM_022173.4(TIA1):c.924G>A (p.Gln308=)	Welander distal myopathy [RCV000535531]	benign	2	70214459	70214459	Human	1	name
15164039	CV708342	single nucleotide variant	NM_022173.4(TIA1):c.918T>C (p.Tyr306=)	Welander distal myopathy [RCV001422890]\|not provided [RCV003311927]	likely benign	2	70214465	70214465	Human	1	name
26886528	CV826919	single nucleotide variant	NM_022173.4(TIA1):c.70C>G (p.Leu24Val)	Welander distal myopathy [RCV001066115]	uncertain significance	2	70236132	70236132	Human	1	name
38487090	CV931555	single nucleotide variant	NM_022173.4(TIA1):c.98G>T (p.Cys33Phe)	Welander distal myopathy [RCV001209170]\|not provided [RCV004726963]	uncertain significance	2	70236104	70236104	Human	1	name
127237181	CV1069818	single nucleotide variant	NM_022173.4(TIA1):c.283A>T (p.Thr95Ser)	Welander distal myopathy [RCV001397068]\|not provided [RCV003136067]	likely benign\|uncertain significance	2	70229086	70229086	Human	1	name
127250721	CV1091534	single nucleotide variant	NM_022173.4(TIA1):c.1032T>C (p.Phe344=)	Welander distal myopathy [RCV001436432]	likely benign	2	70214351	70214351	Human	1	name
150521044	CV1290805	insertion	NM_022173.4(TIA1):c.889-158_889-157insG	not provided [RCV001732459]	likely benign	2	70214651	70214652	Human		name
150556306	CV1296873	single nucleotide variant	NM_022173.4(TIA1):c.230A>G (p.Lys77Arg)	not provided [RCV001774163]	uncertain significance	2	70229311	70229311	Human		name
151846015	CV1405629	single nucleotide variant	NM_022173.4(TIA1):c.172C>A (p.His58Asn)	Inborn genetic diseases [RCV004970470]\|Welander distal myopathy [RCV001903443]	uncertain significance	2	70230806	70230806	Human	2	name
151722272	CV1406628	single nucleotide variant	NM_022173.4(TIA1):c.170G>A (p.Arg57His)	Welander distal myopathy [RCV002003846]	uncertain significance	2	70230808	70230808	Human	1	name
151795105	CV1434404	single nucleotide variant	NM_022173.4(TIA1):c.188T>C (p.Leu63Ser)	Inborn genetic diseases [RCV005278913]\|Welander distal myopathy [RCV001866609]\|not provided [RCV003136205]	uncertain significance	2	70230790	70230790	Human	2	name
151817910	CV1505811	single nucleotide variant	NM_022173.4(TIA1):c.155A>C (p.Glu52Ala)	Welander distal myopathy [RCV002049502]	uncertain significance	2	70230823	70230823	Human	1	name
156379059	CV2028933	single nucleotide variant	NM_022173.4(TIA1):c.184G>A (p.Ala62Thr)	Welander distal myopathy [RCV002722167]	uncertain significance	2	70230794	70230794	Human	1	name
156199136	CV2092411	single nucleotide variant	NM_022173.4(TIA1):c.272C>G (p.Thr91Arg)	Welander distal myopathy [RCV002917724]	uncertain significance	2	70229269	70229269	Human	1	name
243062972	CV2414090	deletion	NM_022173.4(TIA1):c.879del (p.Val294fs)	Welander distal myopathy [RCV005060971]\|not provided [RCV003141009]	uncertain significance	2	70215380	70215380	Human	1	name
243062974	CV2414092	single nucleotide variant	NM_022173.4(TIA1):c.272C>A (p.Thr91Lys)	not provided [RCV003141011]	uncertain significance	2	70229269	70229269	Human		name
405093486	CV3164152	single nucleotide variant	NM_022173.4(TIA1):c.125C>T (p.Thr42Ile)	Welander distal myopathy [RCV003852467]	uncertain significance	2	70230853	70230853	Human	1	name
404984625	CV3183672	single nucleotide variant	NM_022173.4(TIA1):c.159T>G (p.Phe53Leu)	Welander distal myopathy [RCV003880949]	uncertain significance	2	70230819	70230819	Human	1	name
598176346	CV3913718	single nucleotide variant	NM_022173.4(TIA1):c.161A>G (p.His54Arg)	Inborn genetic diseases [RCV005285622]	uncertain significance	2	70230817	70230817	Human	1	name
598176348	CV3913720	single nucleotide variant	NM_022173.4(TIA1):c.196A>G (p.Met66Val)	Inborn genetic diseases [RCV005285623]	uncertain significance	2	70230782	70230782	Human	1	name
13480899	CV440722	single nucleotide variant	NM_022173.4(TIA1):c.1086G>A (p.Pro362=)	Welander distal myopathy [RCV000633711]\|not provided [RCV001843526]\|not specified [RCV000517421]	benign\|likely benign	2	70212794	70212794	Human	1	name
13490274	CV451743	single nucleotide variant	NM_022173.4(TIA1):c.1122G>A (p.Gln374=)	Welander distal myopathy [RCV000533403]\|not provided [RCV002275057]	benign\|likely benign	2	70212758	70212758	Human	1	name
15105508	CV747745	single nucleotide variant	NM_022173.4(TIA1):c.1101T>C (p.Asn367=)	Welander distal myopathy [RCV000915561]	benign	2	70212779	70212779	Human	1	name
26897079	CV826912	single nucleotide variant	NM_022173.4(TIA1):c.1146G>T (p.Gly382=)	Welander distal myopathy [RCV001070136]	likely benign\|uncertain significance	2	70212734	70212734	Human	1	name
26892200	CV826917	single nucleotide variant	NM_022173.4(TIA1):c.209A>T (p.Lys70Met)	Welander distal myopathy [RCV001046830]	uncertain significance	2	70230769	70230769	Human	1	name
26920693	CV826918	single nucleotide variant	NM_022173.4(TIA1):c.143A>G (p.Tyr48Cys)	Welander distal myopathy [RCV001060248]	uncertain significance	2	70230835	70230835	Human	1	name
126765157	CV988949	single nucleotide variant	NM_022173.4(TIA1):c.167A>G (p.His56Arg)	Welander distal myopathy [RCV001301379]	uncertain significance	2	70230811	70230811	Human	1	name
126763811	CV988950	single nucleotide variant	NM_022173.4(TIA1):c.154G>A (p.Glu52Lys)	Welander distal myopathy [RCV001300853]	uncertain significance	2	70230824	70230824	Human	1	name
126742143	CV1016095	single nucleotide variant	NM_022173.4(TIA1):c.775C>A (p.His259Asn)	Welander distal myopathy [RCV001329874]	uncertain significance	2	70215484	70215484	Human	1	name
126774853	CV1024688	single nucleotide variant	NM_022173.4(TIA1):c.683A>T (p.Gln228Leu)	Welander distal myopathy [RCV001347706]\|not provided [RCV003156340]	uncertain significance	2	70216289	70216289	Human	1	name
126756494	CV1024689	single nucleotide variant	NM_022173.4(TIA1):c.562G>T (p.Ala188Ser)	Welander distal myopathy [RCV001339295]	uncertain significance	2	70216907	70216907	Human	1	name
126908505	CV1041650	single nucleotide variant	NM_022173.4(TIA1):c.913C>T (p.Pro305Ser)	Welander distal myopathy [RCV001367936]	uncertain significance	2	70214470	70214470	Human	1	name
126911100	CV1041651	single nucleotide variant	NM_022173.4(TIA1):c.597G>C (p.Gln199His)	Welander distal myopathy [RCV001369072]	uncertain significance	2	70216486	70216486	Human	1	name
127234508	CV1069815	single nucleotide variant	NM_022173.4(TIA1):c.691C>A (p.Arg231Ser)	Welander distal myopathy [RCV001396442]	likely benign	2	70216281	70216281	Human	1	name
151841109	CV1342309	single nucleotide variant	NM_022173.4(TIA1):c.787G>T (p.Ala263Ser)	Welander distal myopathy [RCV001956759]	uncertain significance	2	70215472	70215472	Human	1	name
151810644	CV1375113	single nucleotide variant	NM_022173.4(TIA1):c.985G>A (p.Val329Ile)	Welander distal myopathy [RCV001933165]	uncertain significance	2	70214398	70214398	Human	1	name
151844537	CV1381438	single nucleotide variant	NM_022173.4(TIA1):c.802T>A (p.Ser268Thr)	Welander distal myopathy [RCV001881770]	uncertain significance	2	70215457	70215457	Human	1	name
151883188	CV1384108	single nucleotide variant	NM_022173.4(TIA1):c.467A>C (p.Asn156Thr)	Welander distal myopathy [RCV001886883]	uncertain significance	2	70224561	70224561	Human	1	name
151850202	CV1389742	single nucleotide variant	NM_022173.4(TIA1):c.434A>C (p.Lys145Thr)	Welander distal myopathy [RCV001937242]	uncertain significance	2	70224594	70224594	Human	1	name
151824738	CV1425035	single nucleotide variant	NM_022173.4(TIA1):c.820A>T (p.Ile274Phe)	Welander distal myopathy [RCV001901223]	uncertain significance	2	70215439	70215439	Human	1	name
151851784	CV1448135	single nucleotide variant	NM_022173.4(TIA1):c.928G>A (p.Gly310Ser)	Welander distal myopathy [RCV001922885]	uncertain significance	2	70214455	70214455	Human	1	name
151778903	CV1468847	single nucleotide variant	NM_022173.4(TIA1):c.557C>A (p.Pro186His)	Welander distal myopathy [RCV002045966]	uncertain significance	2	70216912	70216912	Human	1	name
151805091	CV1503560	single nucleotide variant	NM_022173.4(TIA1):c.692G>A (p.Arg231His)	Welander distal myopathy [RCV002011915]\|not provided [RCV003136361]	uncertain significance	2	70216280	70216280	Human	1	name
155672106	CV1773982	single nucleotide variant	NM_022173.4(TIA1):c.572G>T (p.Ser191Ile)	Welander distal myopathy [RCV002297551]	uncertain significance	2	70216897	70216897	Human	1	name
155749870	CV1779215	single nucleotide variant	NM_022173.4(TIA1):c.737T>A (p.Phe246Tyr)	Welander distal myopathy [RCV002305108]	uncertain significance	2	70216235	70216235	Human	1	name
155678939	CV1779316	single nucleotide variant	NM_022173.4(TIA1):c.880G>C (p.Val294Leu)	Welander distal myopathy [RCV002298058]	uncertain significance	2	70215379	70215379	Human	1	name
155714997	CV1780359	single nucleotide variant	NM_022173.4(TIA1):c.731G>A (p.Arg244Gln)	not provided [RCV002305963]	uncertain significance	2	70216241	70216241	Human		name
156309698	CV1928267	single nucleotide variant	NM_022173.4(TIA1):c.936G>T (p.Trp312Cys)	Welander distal myopathy [RCV002648084]	uncertain significance	2	70214447	70214447	Human	1	name
156188124	CV2020761	single nucleotide variant	NM_022173.4(TIA1):c.889C>G (p.Gln297Glu)	Welander distal myopathy [RCV002710996]	uncertain significance	2	70214494	70214494	Human	1	name
156009906	CV2039029	single nucleotide variant	NM_022173.4(TIA1):c.301C>A (p.Arg101Ser)	Welander distal myopathy [RCV002795043]	uncertain significance	2	70229068	70229068	Human	1	name
156310562	CV2063379	single nucleotide variant	NM_022173.4(TIA1):c.758T>G (p.Phe253Cys)	Welander distal myopathy [RCV002834096]	uncertain significance	2	70216214	70216214	Human	1	name
156277324	CV2064057	single nucleotide variant	NM_022173.4(TIA1):c.902G>T (p.Gly301Val)	Welander distal myopathy [RCV002856260]	uncertain significance	2	70214481	70214481	Human	1	name
155982702	CV2070197	single nucleotide variant	NM_022173.4(TIA1):c.914C>G (p.Pro305Arg)	Welander distal myopathy [RCV002842599]	uncertain significance	2	70214469	70214469	Human	1	name
156074832	CV2086439	duplication	NM_022173.4(TIA1):c.1100dup (p.Asn367fs)	Welander distal myopathy [RCV002847189]	uncertain significance	2	70212779	70212780	Human	1	name
155994272	CV2126026	single nucleotide variant	NM_022173.4(TIA1):c.970C>T (p.Pro324Ser)	Welander distal myopathy [RCV002974875]	uncertain significance	2	70214413	70214413	Human	1	name
156201829	CV2134706	single nucleotide variant	NM_022173.4(TIA1):c.362A>G (p.Asp121Gly)	Inborn genetic diseases [RCV004963327]\|Welander distal myopathy [RCV002985243]	uncertain significance	2	70227771	70227771	Human	2	name
155992895	CV2145536	single nucleotide variant	NM_022173.4(TIA1):c.850G>C (p.Gly284Arg)	Welander distal myopathy [RCV002996651]	uncertain significance	2	70215409	70215409	Human	1	name
155992911	CV2171339	single nucleotide variant	NM_022173.4(TIA1):c.397T>C (p.Ser133Pro)	Welander distal myopathy [RCV003034410]	uncertain significance	2	70227736	70227736	Human	1	name
155996644	CV2288531	single nucleotide variant	NM_022173.4(TIA1):c.548C>T (p.Thr183Ile)	Inborn genetic diseases [RCV002882903]	uncertain significance	2	70216921	70216921	Human	1	name
243062966	CV2414084	single nucleotide variant	NM_022173.4(TIA1):c.313C>T (p.His105Tyr)	Welander distal myopathy [RCV003778808]\|not provided [RCV003141003]	uncertain significance	2	70227820	70227820	Human	1	name
243062967	CV2414085	single nucleotide variant	NM_022173.4(TIA1):c.803C>T (p.Ser268Phe)	not provided [RCV003141004]	uncertain significance	2	70215456	70215456	Human		name
243062968	CV2414086	single nucleotide variant	NM_022173.4(TIA1):c.356C>A (p.Thr119Asn)	not provided [RCV003141005]	uncertain significance	2	70227777	70227777	Human		name
243062970	CV2414088	single nucleotide variant	NM_022173.4(TIA1):c.863T>C (p.Leu288Pro)	Welander distal myopathy [RCV005099353]\|not provided [RCV003141007]	uncertain significance	2	70215396	70215396	Human	1	name
243062971	CV2414089	single nucleotide variant	NM_022173.4(TIA1):c.821T>C (p.Ile274Thr)	not provided [RCV003141008]	uncertain significance	2	70215438	70215438	Human		name
243062975	CV2414093	single nucleotide variant	NM_022173.4(TIA1):c.991G>A (p.Ala331Thr)	not provided [RCV003141012]	uncertain significance	2	70214392	70214392	Human		name
11545908	CV250767	single nucleotide variant	NM_022173.4(TIA1):c.953A>G (p.Gln318Arg)	Welander distal myopathy [RCV000986766]\|not provided [RCV001573472]\|not specified [RCV000245769]	benign\|likely benign	2	70214430	70214430	Human	1	name
401719052	CV2704936	single nucleotide variant	NM_022173.4(TIA1):c.862C>G (p.Leu288Val)	Inborn genetic diseases [RCV003266756]	uncertain significance	2	70215397	70215397	Human	1	name
401944008	CV2840336	single nucleotide variant	NM_022173.4(TIA1):c.559C>T (p.Pro187Ser)	not provided [RCV003457070]	uncertain significance	2	70216910	70216910	Human		name
404994842	CV2851269	single nucleotide variant	NM_022173.4(TIA1):c.487G>A (p.Ala163Thr)	not provided [RCV003491670]	uncertain significance	2	70216982	70216982	Human		name
405005163	CV2876739	single nucleotide variant	NM_022173.4(TIA1):c.796A>G (p.Ile266Val)	Welander distal myopathy [RCV003526705]	uncertain significance	2	70215463	70215463	Human	1	name
405000510	CV2909599	single nucleotide variant	NM_022173.4(TIA1):c.634A>G (p.Ser212Gly)	Welander distal myopathy [RCV003526249]	uncertain significance	2	70216449	70216449	Human	1	name
405001009	CV2917468	single nucleotide variant	NM_022173.4(TIA1):c.985G>T (p.Val329Phe)	Welander distal myopathy [RCV003526304]	uncertain significance	2	70214398	70214398	Human	1	name
405194279	CV2957579	single nucleotide variant	NM_022173.4(TIA1):c.302G>A (p.Arg101His)	Welander distal myopathy [RCV003641253]	uncertain significance	2	70229067	70229067	Human	1	name
405200356	CV3058261	single nucleotide variant	NM_022173.4(TIA1):c.880G>T (p.Val294Leu)	Welander distal myopathy [RCV003642087]	uncertain significance	2	70215379	70215379	Human	1	name
405201151	CV3070270	single nucleotide variant	NM_022173.4(TIA1):c.938A>G (p.Tyr313Cys)	Welander distal myopathy [RCV003642208]	uncertain significance	2	70214445	70214445	Human	1	name
405066045	CV3140011	single nucleotide variant	NM_022173.4(TIA1):c.690G>A (p.Met230Ile)	Welander distal myopathy [RCV003833166]	uncertain significance	2	70216282	70216282	Human	1	name
405151166	CV3162920	single nucleotide variant	NM_022173.4(TIA1):c.652T>C (p.Cys218Arg)	Welander distal myopathy [RCV003856363]	uncertain significance	2	70216431	70216431	Human	1	name
405255244	CV3176079	single nucleotide variant	NM_022173.4(TIA1):c.406C>T (p.Arg136Ter)	Welander distal myopathy [RCV003872163]	uncertain significance	2	70224622	70224622	Human	1	name
407573101	CV3498901	single nucleotide variant	NM_022173.4(TIA1):c.524G>A (p.Arg175Lys)	not specified [RCV004699871]	uncertain significance	2	70216945	70216945	Human		name
408387194	CV3524441	single nucleotide variant	NM_022173.4(TIA1):c.857A>C (p.Glu286Ala)	not provided [RCV004768315]	uncertain significance	2	70215402	70215402	Human		name
597968618	CV3761172	single nucleotide variant	NM_022173.4(TIA1):c.365T>C (p.Ile122Thr)	Welander distal myopathy [RCV005083559]	uncertain significance	2	70227768	70227768	Human	1	name
597948303	CV3800606	single nucleotide variant	NM_022173.4(TIA1):c.653G>C (p.Cys218Ser)	Welander distal myopathy [RCV005135006]	uncertain significance	2	70216430	70216430	Human	1	name
597894523	CV3810068	single nucleotide variant	NM_022173.4(TIA1):c.562G>A (p.Ala188Thr)	Welander distal myopathy [RCV005151789]	uncertain significance	2	70216907	70216907	Human	1	name
597899167	CV3826736	single nucleotide variant	NM_022173.4(TIA1):c.726A>T (p.Glu242Asp)	Welander distal myopathy [RCV005180869]	uncertain significance	2	70216246	70216246	Human	1	name
597887404	CV3839061	single nucleotide variant	NM_022173.4(TIA1):c.763C>T (p.Arg255Trp)	Welander distal myopathy [RCV005179146]	uncertain significance	2	70216209	70216209	Human	1	name
597934709	CV3845100	single nucleotide variant	NM_022173.4(TIA1):c.728T>C (p.Ile243Thr)	Welander distal myopathy [RCV005186413]	uncertain significance	2	70216244	70216244	Human	1	name
597959198	CV3848630	single nucleotide variant	NM_022173.4(TIA1):c.425C>T (p.Ala142Val)	Welander distal myopathy [RCV005192331]	uncertain significance	2	70224603	70224603	Human	1	name
597948249	CV3852459	single nucleotide variant	NM_022173.4(TIA1):c.691C>T (p.Arg231Cys)	Welander distal myopathy [RCV005189537]	uncertain significance	2	70216281	70216281	Human	1	name
597937826	CV3852688	single nucleotide variant	NM_022173.4(TIA1):c.967A>G (p.Met323Val)	Welander distal myopathy [RCV005187087]	uncertain significance	2	70214416	70214416	Human	1	name
616933276	CV4012900	single nucleotide variant	NM_022173.4(TIA1):c.799G>A (p.Val267Ile)	Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia [RCV005410364]	uncertain significance	2	70215460	70215460	Human	1	name
13474248	CV451384	single nucleotide variant	NM_022173.4(TIA1):c.947C>G (p.Ala316Gly)	Welander distal myopathy [RCV000548165]\|not provided [RCV002248764]	benign\|likely benign	2	70214436	70214436	Human	1	name
13470263	CV451542	deletion	NM_022173.4(TIA1):c.1156del (p.Gln386fs)	Welander distal myopathy [RCV000546022]	uncertain significance	2	70212724	70212724	Human	1	name
13616711	CV518512	single nucleotide variant	NM_022173.4(TIA1):c.311A>T (p.Asp104Val)	Welander distal myopathy [RCV000633709]	uncertain significance	2	70227822	70227822	Human	1	name
13822646	CV560898	single nucleotide variant	NM_022173.4(TIA1):c.880G>A (p.Val294Met)	Welander distal myopathy [RCV000697567]\|not provided [RCV004721559]	uncertain significance	2	70215379	70215379	Human	1	name
13808611	CV560900	single nucleotide variant	NM_022173.4(TIA1):c.869T>C (p.Met290Thr)	Welander distal myopathy [RCV000701749]	uncertain significance	2	70215390	70215390	Human	1	name
13817269	CV560909	single nucleotide variant	NM_022173.4(TIA1):c.422T>C (p.Met141Thr)	Welander distal myopathy [RCV000692906]	uncertain significance	2	70224606	70224606	Human	1	name
13812589	CV561884	single nucleotide variant	NM_022173.4(TIA1):c.380C>T (p.Ala127Val)	Welander distal myopathy [RCV000703795]	uncertain significance	2	70227753	70227753	Human	1	name
14719749	CV630414	single nucleotide variant	NM_022173.4(TIA1):c.770A>T (p.Asn257Ile)	Welander distal myopathy [RCV000812747]\|not provided [RCV003141827]	uncertain significance	2	70215489	70215489	Human	1	name
26916283	CV826914	single nucleotide variant	NM_022173.4(TIA1):c.971C>G (p.Pro324Arg)	Welander distal myopathy [RCV001041859]	uncertain significance	2	70214412	70214412	Human	1	name
26886161	CV826915	single nucleotide variant	NM_022173.4(TIA1):c.689T>C (p.Met230Thr)	Welander distal myopathy [RCV001065888]	uncertain significance	2	70216283	70216283	Human	1	name
26899422	CV826916	single nucleotide variant	NM_022173.4(TIA1):c.328G>A (p.Val110Ile)	Welander distal myopathy [RCV001049232]	uncertain significance	2	70227805	70227805	Human	1	name
28880618	CV859185	single nucleotide variant	NM_022173.4(TIA1):c.763C>G (p.Arg255Gly)	not provided [RCV001090974]	uncertain significance	2	70216209	70216209	Human		name
38475514	CV922900	single nucleotide variant	NM_022173.4(TIA1):c.398C>T (p.Ser133Leu)	Welander distal myopathy [RCV001215208]\|not provided [RCV003142154]	uncertain significance	2	70227735	70227735	Human	1	name
38472783	CV931554	single nucleotide variant	NM_022173.4(TIA1):c.992C>T (p.Ala331Val)	Inborn genetic diseases [RCV003346359]\|Welander distal myopathy [RCV001203106]	uncertain significance	2	70214391	70214391	Human	2	name
126727524	CV988948	single nucleotide variant	NM_022173.4(TIA1):c.805G>A (p.Val269Ile)	Welander distal myopathy [RCV001303177]	uncertain significance	2	70215454	70215454	Human	1	name
126763498	CV1004211	single nucleotide variant	NM_022173.4(TIA1):c.1118A>G (p.Asn373Ser)	Welander distal myopathy [RCV001319268]	uncertain significance	2	70212762	70212762	Human	1	name
126736468	CV1024687	single nucleotide variant	NM_022173.4(TIA1):c.1006G>A (p.Gly336Ser)	Welander distal myopathy [RCV001350228]\|not provided [RCV001508080]	uncertain significance	2	70214377	70214377	Human	1	name
151891493	CV1461282	single nucleotide variant	NM_022173.4(TIA1):c.1059G>T (p.Trp353Cys)	Welander distal myopathy [RCV001943392]	uncertain significance	2	70212821	70212821	Human	1	name
151853702	CV1487034	single nucleotide variant	NM_022173.4(TIA1):c.1157A>C (p.Gln386Pro)	Welander distal myopathy [RCV001937684]	uncertain significance	2	70212723	70212723	Human	1	name
153303440	CV1686251	single nucleotide variant	NM_022173.4(TIA1):c.1040C>T (p.Thr347Ile)	not provided [RCV002261684]	uncertain significance	2	70212840	70212840	Human		name
156358623	CV1925306	single nucleotide variant	NM_022173.4(TIA1):c.1002G>A (p.Met334Ile)	Welander distal myopathy [RCV002651470]\|not provided [RCV003140145]	uncertain significance	2	70214381	70214381	Human	1	name
155953401	CV2033245	single nucleotide variant	NM_022173.4(TIA1):c.1072T>G (p.Tyr358Asp)	Welander distal myopathy [RCV002730800]	uncertain significance	2	70212808	70212808	Human	1	name
156202533	CV2110116	single nucleotide variant	NM_022173.4(TIA1):c.1038G>C (p.Gln346His)	Welander distal myopathy [RCV002957433]	uncertain significance	2	70212842	70212842	Human	1	name
243062969	CV2414087	single nucleotide variant	NM_022173.4(TIA1):c.1024C>G (p.Gln342Glu)	not provided [RCV003141006]	uncertain significance	2	70214359	70214359	Human		name
11549414	CV250766	single nucleotide variant	NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)	Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia [RCV003989508]\|TIA1-related disorder [RCV003891965]\|Welander distal myopathy [RCV000250393]\|not provided [RCV000859341]\|not specified [RCV000516506]	pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	70212810	70212810	Human	3	name , trait , alternate_id
407457252	CV3416089	single nucleotide variant	NM_022173.4(TIA1):c.1124C>T (p.Pro375Leu)	not provided [RCV004598966]	uncertain significance	2	70212756	70212756	Human		name
598176353	CV3913721	single nucleotide variant	NM_022173.4(TIA1):c.1032T>A (p.Phe344Leu)	Inborn genetic diseases [RCV005285624]	uncertain significance	2	70214351	70214351	Human	1	name
11577784	CV49919	single nucleotide variant	NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys)	Welander distal myopathy [RCV000576901]\|not provided [RCV000267511]	pathogenic\|likely pathogenic	2	70212730	70212730	Human	1	name
13616708	CV518508	single nucleotide variant	NM_022173.4(TIA1):c.1082A>C (p.Gln361Pro)	Welander distal myopathy [RCV000633708]	uncertain significance	2	70212798	70212798	Human	1	name
14701914	CV630413	single nucleotide variant	NM_022173.4(TIA1):c.1078G>A (p.Val360Met)	Welander distal myopathy [RCV000806619]\|not provided [RCV003141808]	conflicting interpretations of pathogenicity\|uncertain significance	2	70212802	70212802	Human	1	name
26900262	CV826913	single nucleotide variant	NM_022173.4(TIA1):c.1108A>G (p.Met370Val)	Welander distal myopathy [RCV001035262]	uncertain significance	2	70212772	70212772	Human	1	name
38485279	CV931552	single nucleotide variant	NM_022173.4(TIA1):c.1117A>G (p.Asn373Asp)	Welander distal myopathy [RCV001208407]	uncertain significance	2	70212763	70212763	Human	1	name
38476582	CV931553	single nucleotide variant	NM_022173.4(TIA1):c.1096C>T (p.Gln366Ter)	Welander distal myopathy [RCV001204751]	uncertain significance	2	70212784	70212784	Human	1	name
41406656	CV980520	single nucleotide variant	NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu)	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA [RCV001281089]\|Welander distal myopathy [RCV001365839]\|not provided [RCV003132375]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	2	70212795	70212795	Human	2	name
41406658	CV980521	single nucleotide variant	NM_022173.4(TIA1):c.1141G>A (p.Ala381Thr)	Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia [RCV001281090]\|Welander distal myopathy [RCV003526067]	pathogenic\|uncertain significance\|no classifications from unflagged records	2	70212739	70212739	Human	2	name
151755660	CV1449268	microsatellite	NM_022173.4(TIA1):c.538_541del (p.Asn180fs)	Welander distal myopathy [RCV001986726]	uncertain significance	2	70216928	70216931	Human		name
156353872	CV2066150	deletion	NM_022173.4(TIA1):c.183_194del (p.Ala62_Ala65del)	Welander distal myopathy [RCV002811987]	uncertain significance	2	70230784	70230795	Human	1	name
404996423	CV2874001	microsatellite	NM_022173.4(TIA1):c.764+16_764+17insTGGTTTTTTTTTTTTTTTTTTNNNNNNNNNNNCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	Welander distal myopathy [RCV003525692]	uncertain significance	2	70216191	70216192	Human		name

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