Col13a1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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736 records found for search term Col13a1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150507443	CV1226593	single nucleotide variant	NM_001368882.1(COL13A1):c.-86C>T	not provided [RCV001635961]	benign	10	69802338	69802338	Human		name
150507722	CV1229160	single nucleotide variant	NM_001368882.1(COL13A1):c.*267C>G	not provided [RCV001636031]	benign	10	69958968	69958968	Human		name
150469161	CV1259611	single nucleotide variant	NM_001368882.1(COL13A1):c.-410G>A	not provided [RCV001683912]	benign	10	69802014	69802014	Human		name
150416609	CV1180698	single nucleotide variant	NM_001368882.1(COL13A1):c.435+2T>G	not provided [RCV001549739]	likely pathogenic	10	69875165	69875165	Human		name
150448726	CV1207316	single nucleotide variant	NM_001368882.1(COL13A1):c.463-4G>A	Congenital myasthenic syndrome 19 [RCV001582446]\|not provided [RCV001647451]	benign	10	69880499	69880499	Human	1	name
150451915	CV1207317	deletion	NM_001368882.1(COL13A1):c.514-4del	Congenital myasthenic syndrome 19 [RCV001582447]\|not provided [RCV002070447]	benign	10	69887441	69887441	Human	1	name
151757385	CV1443514	single nucleotide variant	NM_001368882.1(COL13A1):c.999+5G>A	Congenital myasthenic syndrome 19 [RCV002482584]\|not provided [RCV001872858]	uncertain significance	10	69918322	69918322	Human	1	name
151806429	CV1453437	single nucleotide variant	NM_001368882.1(COL13A1):c.549+5G>A	Congenital myasthenic syndrome 19 [RCV003225981]\|not provided [RCV001877843]	uncertain significance	10	69887496	69887496	Human	1	name
151849801	CV1464795	single nucleotide variant	NM_001368882.1(COL13A1):c.550-2A>G	not provided [RCV001995813]	likely pathogenic	10	69888302	69888302	Human		name
151866534	CV1472552	single nucleotide variant	NM_001368882.1(COL13A1):c.966+4C>T	not provided [RCV002018415]	uncertain significance	10	69917337	69917337	Human		name
151742546	CV1507424	single nucleotide variant	NM_001368882.1(COL13A1):c.750+4G>A	not provided [RCV001968285]	uncertain significance	10	69898766	69898766	Human		name
152175714	CV1527109	single nucleotide variant	NM_001368882.1(COL13A1):c.604-4A>G	not provided [RCV002163850]	likely benign	10	69894548	69894548	Human		name
152176266	CV1541299	single nucleotide variant	NM_001368882.1(COL13A1):c.295-5T>A	not provided [RCV002164410]	likely benign	10	69822364	69822364	Human		name
152080548	CV1546550	single nucleotide variant	NM_001368882.1(COL13A1):c.373-7A>G	not provided [RCV002130765]	likely benign	10	69872177	69872177	Human		name
152110794	CV1551148	single nucleotide variant	NM_001368882.1(COL13A1):c.365-7C>T	not provided [RCV002196746]	likely benign	10	69867791	69867791	Human		name
152040522	CV1561739	single nucleotide variant	NM_001368882.1(COL13A1):c.399+9C>G	not provided [RCV002188189]	likely benign	10	69872219	69872219	Human		name
152087902	CV1594772	single nucleotide variant	NM_001368882.1(COL13A1):c.684+8A>G	not provided [RCV002113663]	likely benign	10	69895584	69895584	Human		name
152077694	CV1604829	single nucleotide variant	NM_001368882.1(COL13A1):c.630+9C>T	not provided [RCV002092445]	likely benign	10	69894587	69894587	Human		name
152164606	CV1611074	single nucleotide variant	NM_001368882.1(COL13A1):c.514-4T>C	not provided [RCV002141555]	likely benign	10	69887452	69887452	Human		name
152101618	CV1621859	single nucleotide variant	NM_001368882.1(COL13A1):c.604-4A>T	not provided [RCV002115418]	likely benign	10	69894548	69894548	Human		name
152037056	CV1646233	single nucleotide variant	NM_001368882.1(COL13A1):c.750+9C>T	not provided [RCV002205766]	likely benign	10	69898771	69898771	Human		name
152073145	CV1650642	single nucleotide variant	NM_001368882.1(COL13A1):c.966+7C>G	not provided [RCV002169554]	likely benign	10	69917340	69917340	Human		name
152089125	CV1655828	duplication	NM_001368882.1(COL13A1):c.514-4dup	not provided [RCV002194065]	benign	10	69887440	69887441	Human		name
152066759	CV1659988	single nucleotide variant	NM_001368882.1(COL13A1):c.295-7T>C	not provided [RCV002147531]	likely benign	10	69822362	69822362	Human		name
153000574	CV1683156	single nucleotide variant	NM_001368882.1(COL13A1):c.462+2T>C	See cases [RCV002253166]	likely pathogenic	10	69878067	69878067	Human		name
156116051	CV1982509	single nucleotide variant	NM_001368882.1(COL13A1):c.631-8C>A	not provided [RCV002622763]	likely benign	10	69894667	69894667	Human		name
156085041	CV2023791	single nucleotide variant	NM_001368882.1(COL13A1):c.435+4A>G	not provided [RCV002760750]	uncertain significance	10	69875167	69875167	Human		name
155929560	CV2041741	single nucleotide variant	NM_001368882.1(COL13A1):c.513+3A>C	not provided [RCV002751088]	uncertain significance	10	69880556	69880556	Human		name
156355671	CV2062705	single nucleotide variant	NM_001368882.1(COL13A1):c.513+1G>T	not provided [RCV002812109]	likely pathogenic	10	69880554	69880554	Human		name
155950126	CV2133075	single nucleotide variant	NM_001368882.1(COL13A1):c.294+9T>C	not provided [RCV002994578]	likely benign	10	69802726	69802726	Human		name
156013043	CV2137478	single nucleotide variant	NM_001368882.1(COL13A1):c.550-8G>T	not provided [RCV003017846]	likely benign	10	69888296	69888296	Human		name
405075533	CV2940744	single nucleotide variant	NM_001368882.1(COL13A1):c.657+1G>A	not provided [RCV003659679]	likely pathogenic	10	69894702	69894702	Human		name
405120607	CV2952354	single nucleotide variant	NM_001368882.1(COL13A1):c.999+7G>A	not provided [RCV003671433]	likely benign	10	69918324	69918324	Human		name
405246119	CV2969302	single nucleotide variant	NM_001368882.1(COL13A1):c.399+8A>G	not provided [RCV003685227]	likely benign	10	69872218	69872218	Human		name
405240127	CV3064267	single nucleotide variant	NM_001368882.1(COL13A1):c.400-5A>G	not provided [RCV003737066]	likely benign	10	69875123	69875123	Human		name
405038485	CV3067592	single nucleotide variant	NM_001368882.1(COL13A1):c.514-7T>C	not provided [RCV003739650]	likely benign	10	69887449	69887449	Human		name
405135432	CV3130541	single nucleotide variant	NM_001368882.1(COL13A1):c.885+8T>A	not provided [RCV003838774]	likely benign	10	69904967	69904967	Human		name
405142416	CV3131334	single nucleotide variant	NM_001368882.1(COL13A1):c.603+9C>T	not provided [RCV003839374]	likely benign	10	69889449	69889449	Human		name
405171178	CV3151685	single nucleotide variant	NM_001368882.1(COL13A1):c.886-4C>T	not provided [RCV003857836]	likely benign	10	69905783	69905783	Human		name
405706387	CV3224830	single nucleotide variant	NM_001368882.1(COL13A1):c.462+1G>T	Congenital myasthenic syndrome 19 [RCV003990210]	uncertain significance	10	69878066	69878066	Human	1	name
597849130	CV3746668	single nucleotide variant	NM_001368882.1(COL13A1):c.576+7G>A	not provided [RCV005066065]	likely benign	10	69888337	69888337	Human		name
597886598	CV3800131	single nucleotide variant	NM_001368882.1(COL13A1):c.658-1G>C	not provided [RCV005150611]	likely pathogenic	10	69895549	69895549	Human		name
597961762	CV3812229	single nucleotide variant	NM_001368882.1(COL13A1):c.631-8C>T	not provided [RCV005163882]	likely benign	10	69894667	69894667	Human		name
597925825	CV3840033	single nucleotide variant	NM_001368882.1(COL13A1):c.463-5C>T	not provided [RCV005184772]	likely benign	10	69880498	69880498	Human		name
13508975	CV481872	single nucleotide variant	NM_001368882.1(COL13A1):c.399+2T>C	not provided [RCV000578590]	likely pathogenic	10	69872212	69872212	Human		name
15198741	CV730700	single nucleotide variant	NM_001368882.1(COL13A1):c.630+2T>C	COL13A1-related disorder [RCV004756077]\|not provided [RCV000890445]	pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	69894580	69894580	Human	1	name , trait , alternate_id
15159813	CV759811	duplication	NM_001368882.1(COL13A1):c.364+4dup	not provided [RCV000925356]	likely benign\|conflicting interpretations of pathogenicity	10	69822440	69822441	Human		name
38597439	CV965279	single nucleotide variant	NM_001368882.1(COL13A1):c.576+5G>A	Congenital myasthenic syndrome 19 [RCV001254695]	uncertain significance	10	69888335	69888335	Human	1	name
126730176	CV986006	single nucleotide variant	NM_001368882.1(COL13A1):c.967-2A>G	Congenital myasthenic syndrome 19 [RCV005042673]\|not provided [RCV002029007]	pathogenic\|likely pathogenic	10	69918283	69918283	Human	1	name
126739167	CV1020747	single nucleotide variant	NM_001368882.1(COL13A1):c.750+18G>T	Congenital myasthenic syndrome 19 [RCV001335691]\|not provided [RCV002070204]	likely benign\|uncertain significance	10	69898780	69898780	Human	1	name
127243742	CV1055915	single nucleotide variant	NM_001368882.1(COL13A1):c.1284+1G>A	not provided [RCV001377157]	likely pathogenic	10	69923856	69923856	Human		name
127247693	CV1055916	single nucleotide variant	NM_001368882.1(COL13A1):c.1285-1G>C	Congenital myasthenic syndrome 19 [RCV003136050]\|not provided [RCV001377822]	likely pathogenic	10	69924962	69924962	Human	1	name
150337234	CV1172126	single nucleotide variant	NM_001368882.1(COL13A1):c.514-43C>T	not provided [RCV001541508]	benign	10	69887413	69887413	Human		name
150435754	CV1207322	single nucleotide variant	NM_001368882.1(COL13A1):c.1330-3C>T	Congenital myasthenic syndrome 19 [RCV001582452]\|not provided [RCV001694138]	benign	10	69925801	69925801	Human	1	name
150462687	CV1214680	deletion	NM_001368882.1(COL13A1):c.859-11del	not provided [RCV001613673]	benign	10	69904906	69904906	Human		name
150473156	CV1217582	single nucleotide variant	NM_001368882.1(COL13A1):c.2146-7C>T	not provided [RCV001615593]	benign	10	69956997	69956997	Human		name
150453610	CV1231850	single nucleotide variant	NM_001368882.1(COL13A1):c.435+67A>T	not provided [RCV001648157]	benign	10	69875230	69875230	Human		name
150436873	CV1234136	single nucleotide variant	NM_001368882.1(COL13A1):c.550-58C>T	not provided [RCV001644263]	benign	10	69888246	69888246	Human		name
150455961	CV1236819	single nucleotide variant	NM_001368882.1(COL13A1):c.549+51G>A	not provided [RCV001648555]	benign	10	69887542	69887542	Human		name
150448464	CV1260689	single nucleotide variant	NM_001368882.1(COL13A1):c.967-44C>T	not provided [RCV001680357]	benign	10	69918241	69918241	Human		name
150493385	CV1267135	single nucleotide variant	NM_001368882.1(COL13A1):c.435+50G>A	not provided [RCV001688162]	benign	10	69875213	69875213	Human		name
150499032	CV1270753	single nucleotide variant	NM_001368882.1(COL13A1):c.921+98G>C	not provided [RCV001689302]	benign	10	69905920	69905920	Human		name
150535413	CV1300545	single nucleotide variant	NM_001368882.1(COL13A1):c.1914+3G>A	not provided [RCV001758673]	uncertain significance	10	69941026	69941026	Human		name
150536504	CV1312422	single nucleotide variant	NM_001368882.1(COL13A1):c.1230+1G>A	not provided [RCV002034543]	pathogenic\|likely pathogenic	10	69922795	69922795	Human		name
151847120	CV1339175	single nucleotide variant	NM_001368882.1(COL13A1):c.1230+1G>C	not provided [RCV001995480]	likely pathogenic	10	69922795	69922795	Human		name
151846021	CV1341993	single nucleotide variant	NM_001368882.1(COL13A1):c.1728+3A>G	not provided [RCV001922124]	uncertain significance	10	69932607	69932607	Human		name
151777480	CV1365342	single nucleotide variant	NM_001368882.1(COL13A1):c.1486-9C>G	not provided [RCV001864654]	uncertain significance	10	69930034	69930034	Human		name
151762163	CV1423676	single nucleotide variant	NM_001368882.1(COL13A1):c.1026+5T>A	not provided [RCV002008000]	uncertain significance	10	69919093	69919093	Human		name
151762721	CV1433868	single nucleotide variant	NM_001368882.1(COL13A1):c.1486-8G>A	COL13A1-related disorder [RCV004756344]\|not provided [RCV002024563]	uncertain significance	10	69930035	69930035	Human	1	name , trait , alternate_id
151765187	CV1447743	single nucleotide variant	NM_001368882.1(COL13A1):c.2058+3G>A	not provided [RCV001895783]	uncertain significance	10	69947345	69947345	Human		name
151851709	CV1448122	single nucleotide variant	NM_001368882.1(COL13A1):c.2184+6G>T	not provided [RCV001922876]	uncertain significance	10	69957048	69957048	Human		name
151853541	CV1459250	single nucleotide variant	NM_001368882.1(COL13A1):c.1728+5A>G	not provided [RCV002016903]	uncertain significance	10	69932609	69932609	Human		name
151758034	CV1459825	single nucleotide variant	NM_001368882.1(COL13A1):c.1143+4G>C	not provided [RCV001986949]	uncertain significance	10	69921939	69921939	Human		name
151709406	CV1461054	single nucleotide variant	NM_001368882.1(COL13A1):c.1728+6T>A	not provided [RCV001889050]	uncertain significance	10	69932610	69932610	Human		name
151740985	CV1475141	single nucleotide variant	NM_001368882.1(COL13A1):c.2184+6G>C	not provided [RCV001968145]	uncertain significance	10	69957048	69957048	Human		name
151792626	CV1482509	single nucleotide variant	NM_001368882.1(COL13A1):c.1143+5G>T	not provided [RCV002047249]	uncertain significance	10	69921940	69921940	Human		name
151837943	CV1492434	single nucleotide variant	NM_001368882.1(COL13A1):c.1330-8C>G	not provided [RCV002051419]	likely benign\|uncertain significance	10	69925796	69925796	Human		name
151890081	CV1514554	single nucleotide variant	NM_001368882.1(COL13A1):c.1026+6G>A	not provided [RCV001963559]	uncertain significance	10	69919094	69919094	Human		name
152160240	CV1522811	single nucleotide variant	NM_001368882.1(COL13A1):c.859-11T>G	not provided [RCV002140794]	likely benign	10	69904922	69904922	Human		name
152038393	CV1524161	single nucleotide variant	NM_001368882.1(COL13A1):c.435+12C>T	not provided [RCV002125714]	likely benign	10	69875175	69875175	Human		name
152065430	CV1525970	single nucleotide variant	NM_001368882.1(COL13A1):c.373-18C>T	not provided [RCV002128906]	likely benign	10	69872166	69872166	Human		name
152077463	CV1531326	single nucleotide variant	NM_001368882.1(COL13A1):c.372+20G>A	not provided [RCV002210786]	likely benign	10	69867825	69867825	Human		name
152058555	CV1531919	single nucleotide variant	NM_001368882.1(COL13A1):c.373-17G>A	not provided [RCV002089989]	likely benign	10	69872167	69872167	Human		name
152042110	CV1537900	single nucleotide variant	NM_001368882.1(COL13A1):c.966+10C>G	not provided [RCV002165824]	likely benign	10	69917343	69917343	Human		name
152042492	CV1537993	single nucleotide variant	NM_001368882.1(COL13A1):c.513+20C>T	not provided [RCV002165872]	likely benign	10	69880573	69880573	Human		name
152143786	CV1538464	single nucleotide variant	NM_001368882.1(COL13A1):c.603+14T>C	not provided [RCV002219724]	benign	10	69889454	69889454	Human		name
152116138	CV1540925	single nucleotide variant	NM_001368882.1(COL13A1):c.1968+7G>A	not provided [RCV002197420]	likely benign	10	69944185	69944185	Human		name
152122539	CV1541604	single nucleotide variant	NM_001368882.1(COL13A1):c.295-10C>T	not provided [RCV002175768]	likely benign	10	69822359	69822359	Human		name
152120933	CV1547488	single nucleotide variant	NM_001368882.1(COL13A1):c.684+12C>T	not provided [RCV002081542]	likely benign	10	69895588	69895588	Human		name
152154367	CV1550533	single nucleotide variant	NM_001368882.1(COL13A1):c.631-13C>T	not provided [RCV002139980]	likely benign	10	69894662	69894662	Human		name
152171505	CV1552774	single nucleotide variant	NM_001368882.1(COL13A1):c.1531-6C>T	not provided [RCV002143469]	likely benign	10	69930394	69930394	Human		name
152085550	CV1555090	single nucleotide variant	NM_001368882.1(COL13A1):c.967-15T>C	not provided [RCV002211994]	likely benign	10	69918270	69918270	Human		name
152093519	CV1561620	single nucleotide variant	NM_001368882.1(COL13A1):c.1285-9A>G	not provided [RCV002194605]	likely benign	10	69924954	69924954	Human		name
152031490	CV1571663	single nucleotide variant	NM_001368882.1(COL13A1):c.657+12G>A	not provided [RCV002186705]	likely benign	10	69894713	69894713	Human		name
152098730	CV1595462	single nucleotide variant	NM_001368882.1(COL13A1):c.399+17T>G	not provided [RCV002213716]	likely benign	10	69872227	69872227	Human		name
152095099	CV1599527	deletion	NM_001368882.1(COL13A1):c.1531-7del	not provided [RCV002094731]	benign	10	69930390	69930390	Human		name
152112451	CV1604241	single nucleotide variant	NM_001368882.1(COL13A1):c.1026+9G>A	not provided [RCV002097037]	likely benign	10	69919097	69919097	Human		name
152107496	CV1605282	single nucleotide variant	NM_001368882.1(COL13A1):c.750+13C>T	not provided [RCV002196346]	likely benign	10	69898775	69898775	Human		name
152162391	CV1606308	single nucleotide variant	NM_001368882.1(COL13A1):c.372+15C>T	not provided [RCV002181152]	likely benign	10	69867820	69867820	Human		name
152086945	CV1608457	single nucleotide variant	NM_001368882.1(COL13A1):c.603+18C>T	not provided [RCV002212173]	benign	10	69889458	69889458	Human		name
152170173	CV1610853	single nucleotide variant	NM_001368882.1(COL13A1):c.999+14T>G	not provided [RCV002143033]	likely benign	10	69918331	69918331	Human		name
152063566	CV1612106	single nucleotide variant	NM_001368882.1(COL13A1):c.751-18C>T	not provided [RCV002128651]	likely benign	10	69902730	69902730	Human		name
152064323	CV1612257	single nucleotide variant	NM_001368882.1(COL13A1):c.514-19C>T	not provided [RCV002128757]	likely benign	10	69887437	69887437	Human		name
152134494	CV1613395	single nucleotide variant	NM_001368882.1(COL13A1):c.967-16T>C	not provided [RCV002155966]	likely benign	10	69918269	69918269	Human		name
152163306	CV1618975	single nucleotide variant	NM_001368882.1(COL13A1):c.999+16T>C	not provided [RCV002123585]	likely benign	10	69918333	69918333	Human		name
152176436	CV1631316	single nucleotide variant	NM_001368882.1(COL13A1):c.1878+8C>T	not provided [RCV002164581]	likely benign	10	69937723	69937723	Human		name
152026989	CV1635934	single nucleotide variant	NM_001368882.1(COL13A1):c.1231-9C>T	not provided [RCV002084982]	likely benign	10	69923793	69923793	Human		name
152038881	CV1644306	single nucleotide variant	NM_001368882.1(COL13A1):c.631-19C>T	not provided [RCV002165389]	benign	10	69894656	69894656	Human		name
152056922	CV1647333	single nucleotide variant	NM_001368882.1(COL13A1):c.657+14A>C	not provided [RCV002208207]	likely benign	10	69894715	69894715	Human		name
152106994	CV1664601	single nucleotide variant	NM_001368882.1(COL13A1):c.967-11C>G	not provided [RCV002173843]	likely benign	10	69918274	69918274	Human		name
152026125	CV1666217	single nucleotide variant	NM_001368882.1(COL13A1):c.463-19C>A	not provided [RCV002084695]	likely benign	10	69880484	69880484	Human		name
153345732	CV1691373	single nucleotide variant	NM_001368882.1(COL13A1):c.1026+1G>A	Congenital myasthenic syndrome 19 [RCV002272855]\|not provided [RCV003101545]	likely pathogenic\|uncertain significance	10	69919089	69919089	Human	1	name
156067121	CV1952375	single nucleotide variant	NM_001368882.1(COL13A1):c.576+13G>A	not provided [RCV002569491]	likely benign	10	69888343	69888343	Human		name
156124072	CV1953036	single nucleotide variant	NM_001368882.1(COL13A1):c.631-12G>A	not provided [RCV002571978]	likely benign	10	69894663	69894663	Human		name
156245090	CV1956920	single nucleotide variant	NM_001368882.1(COL13A1):c.630+11C>T	not provided [RCV002576357]	likely benign	10	69894589	69894589	Human		name
156329097	CV1957408	duplication	NM_001368882.1(COL13A1):c.967-13dup	not provided [RCV002579894]	likely benign	10	69918271	69918272	Human		name
156409744	CV1961933	single nucleotide variant	NM_001368882.1(COL13A1):c.1329+7G>C	not provided [RCV002586923]	likely benign	10	69925014	69925014	Human		name
156133242	CV1962802	single nucleotide variant	NM_001368882.1(COL13A1):c.550-14C>T	not provided [RCV002572306]	likely benign	10	69888290	69888290	Human		name
156415864	CV1966300	single nucleotide variant	NM_001368882.1(COL13A1):c.576+18C>T	not provided [RCV002589403]	likely benign	10	69888348	69888348	Human		name
156334378	CV1966745	single nucleotide variant	NM_001368882.1(COL13A1):c.921+13G>A	not provided [RCV002600958]	likely benign	10	69905835	69905835	Human		name
156346129	CV1970537	single nucleotide variant	NM_001368882.1(COL13A1):c.373-18C>A	not provided [RCV002601534]	likely benign\|uncertain significance	10	69872166	69872166	Human		name
156325654	CV1972681	single nucleotide variant	NM_001368882.1(COL13A1):c.922-20T>C	not provided [RCV002600511]	likely benign	10	69917269	69917269	Human		name
156411543	CV1973484	single nucleotide variant	NM_001368882.1(COL13A1):c.295-18G>C	not provided [RCV002608283]	likely benign	10	69822351	69822351	Human		name
155973053	CV1974783	single nucleotide variant	NM_001368882.1(COL13A1):c.294+15T>C	not provided [RCV002617268]	likely benign	10	69802732	69802732	Human		name
155901355	CV1975664	single nucleotide variant	NM_001368882.1(COL13A1):c.886-14C>G	not provided [RCV002613407]	likely benign	10	69905773	69905773	Human		name
156352109	CV1985711	single nucleotide variant	NM_001368882.1(COL13A1):c.463-10C>T	not provided [RCV002632052]	likely benign	10	69880493	69880493	Human		name
156099649	CV1991110	single nucleotide variant	NM_001368882.1(COL13A1):c.513+14G>C	not provided [RCV002622163]	likely benign	10	69880567	69880567	Human		name
156226718	CV1991580	single nucleotide variant	NM_001368882.1(COL13A1):c.751-17G>A	not provided [RCV002626644]	likely benign	10	69902731	69902731	Human		name
156227730	CV1991643	single nucleotide variant	NM_001368882.1(COL13A1):c.463-12C>G	not provided [RCV002626680]	likely benign	10	69880491	69880491	Human		name
156122921	CV1994995	single nucleotide variant	NM_001368882.1(COL13A1):c.550-15C>G	not provided [RCV002662926]	likely benign	10	69888289	69888289	Human		name
156371139	CV2007762	single nucleotide variant	NM_001368882.1(COL13A1):c.1090-3C>A	not provided [RCV002676910]	uncertain significance	10	69921879	69921879	Human		name
156226317	CV2009492	single nucleotide variant	NM_001368882.1(COL13A1):c.1231-1G>A	not provided [RCV002701195]	likely pathogenic	10	69923801	69923801	Human		name
156315805	CV2017979	single nucleotide variant	NM_001368882.1(COL13A1):c.1771-9C>T	not provided [RCV002671894]	likely benign	10	69936747	69936747	Human		name
155958406	CV2040291	single nucleotide variant	NM_001368882.1(COL13A1):c.435+13G>A	not provided [RCV002776139]	likely benign	10	69875176	69875176	Human		name
156256988	CV2041301	single nucleotide variant	NM_001368882.1(COL13A1):c.684+20T>G	not provided [RCV002806200]	likely benign	10	69895596	69895596	Human		name
156016730	CV2044113	single nucleotide variant	NM_001368882.1(COL13A1):c.684+17A>C	not provided [RCV002795384]	likely benign	10	69895593	69895593	Human		name
156137578	CV2048191	single nucleotide variant	NM_001368882.1(COL13A1):c.1915-8C>T	not provided [RCV002800837]	likely benign	10	69944117	69944117	Human		name
156116004	CV2058481	single nucleotide variant	NM_001368882.1(COL13A1):c.1399-7T>G	not provided [RCV002825108]	uncertain significance	10	69927080	69927080	Human		name
156331850	CV2075809	single nucleotide variant	NM_001368882.1(COL13A1):c.463-18C>A	not provided [RCV002835342]	likely benign	10	69880485	69880485	Human		name
156214922	CV2076628	single nucleotide variant	NM_001368882.1(COL13A1):c.2145+5G>A	not provided [RCV002875635]	uncertain significance	10	69952973	69952973	Human		name
156316413	CV2086209	single nucleotide variant	NM_001368882.1(COL13A1):c.999+19C>T	not provided [RCV002899019]	likely benign	10	69918336	69918336	Human		name
156185999	CV2086549	single nucleotide variant	NM_001368882.1(COL13A1):c.2022+7C>A	not provided [RCV002851985]	likely benign	10	69945731	69945731	Human		name
156255101	CV2117213	single nucleotide variant	NM_001368882.1(COL13A1):c.1026+8T>A	COL13A1-related disorder [RCV003906356]\|not provided [RCV002933687]	likely benign	10	69919096	69919096	Human	1	name , trait , alternate_id
156003516	CV2119145	single nucleotide variant	NM_001368882.1(COL13A1):c.684+10C>G	not provided [RCV002975296]	likely benign	10	69895586	69895586	Human		name
155933605	CV2129330	single nucleotide variant	NM_001368882.1(COL13A1):c.1530+7A>G	not provided [RCV002970775]	likely benign	10	69930094	69930094	Human		name
155906359	CV2130798	single nucleotide variant	NM_001368882.1(COL13A1):c.1486-9C>T	not provided [RCV002967735]	likely benign	10	69930034	69930034	Human		name
404999583	CV2851603	single nucleotide variant	NM_001368882.1(COL13A1):c.2022+1G>C	Congenital myasthenic syndrome 19 [RCV003493228]	likely pathogenic	10	69945725	69945725	Human	1	name
402478791	CV2924841	single nucleotide variant	NM_001368882.1(COL13A1):c.886-20C>T	not provided [RCV003571845]	likely benign	10	69905767	69905767	Human		name
405144632	CV2942266	single nucleotide variant	NM_001368882.1(COL13A1):c.372+10C>G	not provided [RCV003669558]	likely benign	10	69867815	69867815	Human		name
405157389	CV2956610	single nucleotide variant	NM_001368882.1(COL13A1):c.859-12T>C	not provided [RCV003674440]	likely benign	10	69904921	69904921	Human		name
405214525	CV2981427	single nucleotide variant	NM_001368882.1(COL13A1):c.1798-1G>T	not provided [RCV003709139]	likely pathogenic	10	69937634	69937634	Human		name
405025331	CV2999801	single nucleotide variant	NM_001368882.1(COL13A1):c.885+14T>C	not provided [RCV003695168]	likely benign	10	69904973	69904973	Human		name
402482407	CV3001280	single nucleotide variant	NM_001368882.1(COL13A1):c.967-16T>G	not provided [RCV003686717]	likely benign	10	69918269	69918269	Human		name
405164373	CV3018113	single nucleotide variant	NM_001368882.1(COL13A1):c.550-14C>A	not provided [RCV003704167]	likely benign	10	69888290	69888290	Human		name
405119385	CV3030660	single nucleotide variant	NM_001368882.1(COL13A1):c.630+19T>A	not provided [RCV003700592]	likely benign	10	69894597	69894597	Human		name
405202591	CV3036308	single nucleotide variant	NM_001368882.1(COL13A1):c.2146-8C>T	not provided [RCV003707598]	likely benign	10	69956996	69956996	Human		name
405234522	CV3040610	single nucleotide variant	NM_001368882.1(COL13A1):c.365-20A>C	not provided [RCV003712088]	likely benign	10	69867778	69867778	Human		name
405221312	CV3059865	single nucleotide variant	NM_001368882.1(COL13A1):c.2022+7C>G	not provided [RCV003733210]	likely benign	10	69945731	69945731	Human		name
405228573	CV3069571	single nucleotide variant	NM_001368882.1(COL13A1):c.1398+9G>A	not provided [RCV003734273]	likely benign	10	69925881	69925881	Human		name
405189664	CV3117968	single nucleotide variant	NM_001368882.1(COL13A1):c.400-17G>A	not provided [RCV003820878]	likely benign	10	69875111	69875111	Human		name
405178880	CV3119715	single nucleotide variant	NM_001368882.1(COL13A1):c.751-12C>T	not provided [RCV003819808]	likely benign	10	69902736	69902736	Human		name
404980605	CV3121032	single nucleotide variant	NM_001368882.1(COL13A1):c.365-15C>T	not provided [RCV003826024]	likely benign	10	69867783	69867783	Human		name
404982768	CV3121427	single nucleotide variant	NM_001368882.1(COL13A1):c.750+20C>T	not provided [RCV003826226]	likely benign	10	69898782	69898782	Human		name
404996245	CV3123771	single nucleotide variant	NM_001368882.1(COL13A1):c.576+12C>T	not provided [RCV003827677]	likely benign	10	69888342	69888342	Human		name
404977296	CV3127174	single nucleotide variant	NM_001368882.1(COL13A1):c.372+16G>A	not provided [RCV003825397]	likely benign	10	69867821	69867821	Human		name
405108277	CV3136594	single nucleotide variant	NM_001368882.1(COL13A1):c.463-18C>T	not provided [RCV003835748]	likely benign	10	69880485	69880485	Human		name
405108702	CV3136641	single nucleotide variant	NM_001368882.1(COL13A1):c.2184+7C>T	not provided [RCV003835795]	likely benign	10	69957049	69957049	Human		name
405201239	CV3143531	single nucleotide variant	NM_001368882.1(COL13A1):c.399+12T>C	not provided [RCV003844517]	likely benign	10	69872222	69872222	Human		name
405166446	CV3149436	single nucleotide variant	NM_001368882.1(COL13A1):c.294+17G>T	not provided [RCV003841098]	likely benign	10	69802734	69802734	Human		name
405160388	CV3152985	single nucleotide variant	NM_001368882.1(COL13A1):c.463-19C>G	not provided [RCV003840720]	likely benign	10	69880484	69880484	Human		name
405228834	CV3153401	single nucleotide variant	NM_001368882.1(COL13A1):c.514-15T>G	not provided [RCV003848465]	likely benign	10	69887441	69887441	Human		name
405136246	CV3160235	single nucleotide variant	NM_001368882.1(COL13A1):c.400-18T>C	not provided [RCV003855050]	likely benign	10	69875110	69875110	Human		name
404999046	CV3173111	single nucleotide variant	NM_001368882.1(COL13A1):c.657+16G>A	not provided [RCV003882394]	likely benign	10	69894717	69894717	Human		name
597917904	CV3737769	single nucleotide variant	NM_001368882.1(COL13A1):c.685-13T>C	not provided [RCV005074368]	likely benign	10	69898684	69898684	Human		name
597899407	CV3740935	single nucleotide variant	NM_001368882.1(COL13A1):c.1914+1G>A	not provided [RCV005072098]	likely pathogenic	10	69941024	69941024	Human		name
597902374	CV3741488	single nucleotide variant	NM_001368882.1(COL13A1):c.858+15C>T	not provided [RCV005072459]	likely benign	10	69902870	69902870	Human		name
597879228	CV3744490	single nucleotide variant	NM_001368882.1(COL13A1):c.859-11T>C	not provided [RCV005069704]	likely benign	10	69904922	69904922	Human		name
597949618	CV3745995	single nucleotide variant	NM_001368882.1(COL13A1):c.966+11C>T	not provided [RCV005079179]	likely benign	10	69917344	69917344	Human		name
597971503	CV3750748	single nucleotide variant	NM_001368882.1(COL13A1):c.1144-6C>A	not provided [RCV005084492]	likely benign	10	69922702	69922702	Human		name
597961638	CV3753292	single nucleotide variant	NM_001368882.1(COL13A1):c.751-20T>C	not provided [RCV005081792]	likely benign	10	69902728	69902728	Human		name
597832823	CV3760302	single nucleotide variant	NM_001368882.1(COL13A1):c.2146-4G>T	not provided [RCV005085045]	likely benign	10	69957000	69957000	Human		name
597832900	CV3760330	single nucleotide variant	NM_001368882.1(COL13A1):c.966+16C>T	not provided [RCV005085073]	likely benign	10	69917349	69917349	Human		name
597852130	CV3805645	single nucleotide variant	NM_001368882.1(COL13A1):c.1398+9G>C	not provided [RCV005145575]	likely benign	10	69925881	69925881	Human		name
597936659	CV3807687	single nucleotide variant	NM_001368882.1(COL13A1):c.1530+8C>G	not provided [RCV005158066]	likely benign	10	69930095	69930095	Human		name
597892508	CV3822889	single nucleotide variant	NM_001368882.1(COL13A1):c.400-12C>T	not provided [RCV005179965]	likely benign	10	69875116	69875116	Human		name
597831511	CV3830801	single nucleotide variant	NM_001368882.1(COL13A1):c.1329+9C>T	not provided [RCV005170199]	likely benign	10	69925016	69925016	Human		name
597893646	CV3833455	deletion	NM_001368882.1(COL13A1):c.1915-6del	not provided [RCV005180147]	likely benign	10	69944118	69944118	Human		name
597884505	CV3834953	single nucleotide variant	NM_001368882.1(COL13A1):c.921+15G>A	not provided [RCV005178677]	likely benign	10	69905837	69905837	Human		name
597896943	CV3854301	single nucleotide variant	NM_001368882.1(COL13A1):c.657+16G>T	not provided [RCV005201408]	likely benign	10	69894717	69894717	Human		name
597885968	CV3854870	single nucleotide variant	NM_001368882.1(COL13A1):c.1798-5T>G	not provided [RCV005199715]	likely benign	10	69937630	69937630	Human		name
15190356	CV730701	single nucleotide variant	NM_001368882.1(COL13A1):c.1798-3C>T	not provided [RCV000888075]	benign	10	69937632	69937632	Human		name
15175865	CV730702	single nucleotide variant	NM_001368882.1(COL13A1):c.1879-6G>A	not provided [RCV000884462]	benign	10	69940982	69940982	Human		name
15134959	CV744454	single nucleotide variant	NM_001368882.1(COL13A1):c.364+10C>T	COL13A1-related disorder [RCV004756090]\|not provided [RCV000898377]	likely benign	10	69822448	69822448	Human	1	name , trait , alternate_id
15113550	CV759984	single nucleotide variant	NM_001368882.1(COL13A1):c.1879-7C>T	not provided [RCV000917113]	likely benign	10	69940981	69940981	Human		name
15100652	CV787660	single nucleotide variant	NM_001368882.1(COL13A1):c.2145+9T>G	not provided [RCV000975444]	likely benign	10	69952977	69952977	Human		name
21073281	CV796444	single nucleotide variant	NM_001368882.1(COL13A1):c.2059-1G>A	not provided [RCV000994433]	uncertain significance	10	69952881	69952881	Human		name
150336012	CV1165016	single nucleotide variant	NM_001368882.1(COL13A1):c.886-122T>C	not provided [RCV001530649]	benign	10	69905665	69905665	Human		name
150333928	CV1172125	deletion	NM_001368882.1(COL13A1):c.463-189del	not provided [RCV001539701]	benign	10	69880312	69880312	Human		name
150506547	CV1212234	single nucleotide variant	NM_001368882.1(COL13A1):c.577-124G>A	not provided [RCV001596065]	benign	10	69889290	69889290	Human		name
150465630	CV1218053	single nucleotide variant	NM_001368882.1(COL13A1):c.858+238T>C	not provided [RCV001614179]	benign	10	69903093	69903093	Human		name
150478389	CV1218778	single nucleotide variant	NM_001368882.1(COL13A1):c.858+172G>T	not provided [RCV001616405]	benign	10	69903027	69903027	Human		name
150452835	CV1219764	single nucleotide variant	NM_001368882.1(COL13A1):c.294+264G>A	not provided [RCV001612145]	benign	10	69802981	69802981	Human		name
150451645	CV1220890	single nucleotide variant	NM_001368882.1(COL13A1):c.576+230C>T	not provided [RCV001611984]	benign	10	69888560	69888560	Human		name
150481575	CV1222187	single nucleotide variant	NM_001368882.1(COL13A1):c.2145+41T>C	not provided [RCV001616985]	benign	10	69953009	69953009	Human		name
150501213	CV1223651	single nucleotide variant	NM_001368882.1(COL13A1):c.400-245A>G	not provided [RCV001620772]	benign	10	69874883	69874883	Human		name
150503991	CV1223861	single nucleotide variant	NM_001368882.1(COL13A1):c.514-156C>T	not provided [RCV001621510]	benign	10	69887300	69887300	Human		name
150514512	CV1228541	single nucleotide variant	NM_001368882.1(COL13A1):c.922-295G>A	not provided [RCV001638528]	benign	10	69916994	69916994	Human		name
150433554	CV1230564	single nucleotide variant	NM_001368882.1(COL13A1):c.435+293C>T	not provided [RCV001643509]	benign	10	69875456	69875456	Human		name
150444131	CV1232972	single nucleotide variant	NM_001368882.1(COL13A1):c.1968+61A>G	not provided [RCV001645644]	benign	10	69944239	69944239	Human		name
150431149	CV1235351	single nucleotide variant	NM_001368882.1(COL13A1):c.364+261G>A	not provided [RCV001641721]	benign	10	69822699	69822699	Human		name
150500341	CV1235902	single nucleotide variant	NM_001368882.1(COL13A1):c.1771-99C>T	not provided [RCV001656585]	benign	10	69936657	69936657	Human		name
150437336	CV1237852	single nucleotide variant	NM_001368882.1(COL13A1):c.576+288G>A	not provided [RCV001644350]	benign	10	69888618	69888618	Human		name
150480762	CV1239646	single nucleotide variant	NM_001368882.1(COL13A1):c.603+266T>G	not provided [RCV001652809]	benign	10	69889706	69889706	Human		name
150467212	CV1240843	single nucleotide variant	NM_001368882.1(COL13A1):c.513+182C>T	not provided [RCV001650301]	benign	10	69880735	69880735	Human		name
150437936	CV1249956	single nucleotide variant	NM_001368882.1(COL13A1):c.858+232C>T	not provided [RCV001665870]	benign	10	69903087	69903087	Human		name
150447421	CV1253402	single nucleotide variant	NM_001368882.1(COL13A1):c.1143+75A>G	not provided [RCV001667330]	benign	10	69922010	69922010	Human		name
150501814	CV1255112	single nucleotide variant	NM_001368882.1(COL13A1):c.399+239G>A	not provided [RCV001677031]	benign	10	69872449	69872449	Human		name
150505003	CV1255359	single nucleotide variant	NM_001368882.1(COL13A1):c.550-282A>G	not provided [RCV001677806]	benign	10	69888022	69888022	Human		name
150500369	CV1256085	single nucleotide variant	NM_001368882.1(COL13A1):c.751-146C>T	not provided [RCV001676709]	benign	10	69902602	69902602	Human		name
150468491	CV1257059	single nucleotide variant	NM_001368882.1(COL13A1):c.399+252C>T	not provided [RCV001670705]	benign	10	69872462	69872462	Human		name
150453965	CV1260589	single nucleotide variant	NM_001368882.1(COL13A1):c.365-297C>T	not provided [RCV001681082]	benign	10	69867501	69867501	Human		name
150486944	CV1262658	single nucleotide variant	NM_001368882.1(COL13A1):c.603+113A>G	not provided [RCV001687055]	benign	10	69889553	69889553	Human		name
150475705	CV1263540	single nucleotide variant	NM_001368882.1(COL13A1):c.604-302C>G	not provided [RCV001685063]	benign	10	69894250	69894250	Human		name
150489116	CV1265361	single nucleotide variant	NM_001368882.1(COL13A1):c.435+155G>C	not provided [RCV001687397]	benign	10	69875318	69875318	Human		name
150493667	CV1267193	single nucleotide variant	NM_001368882.1(COL13A1):c.463-209T>C	not provided [RCV001688221]	benign	10	69880294	69880294	Human		name
150492091	CV1267884	single nucleotide variant	NM_001368882.1(COL13A1):c.364+177G>A	not provided [RCV001687910]	benign	10	69822615	69822615	Human		name
150466999	CV1268867	single nucleotide variant	NM_001368882.1(COL13A1):c.1330-28G>C	not provided [RCV001694564]	benign	10	69925776	69925776	Human		name
150456963	CV1269147	single nucleotide variant	NM_001368882.1(COL13A1):c.1878+45G>C	not provided [RCV001692971]	benign	10	69937760	69937760	Human		name
150457368	CV1269480	single nucleotide variant	NM_001368882.1(COL13A1):c.684+111G>A	not provided [RCV001693020]	benign	10	69895687	69895687	Human		name
150450764	CV1272422	single nucleotide variant	NM_001368882.1(COL13A1):c.966+172C>T	not provided [RCV001691903]	benign	10	69917505	69917505	Human		name
150449145	CV1273595	single nucleotide variant	NM_001368882.1(COL13A1):c.577-305C>T	not provided [RCV001691695]	benign	10	69889109	69889109	Human		name
150450101	CV1275763	single nucleotide variant	NM_001368882.1(COL13A1):c.1530+12C>T	not provided [RCV001708218]	benign	10	69930099	69930099	Human		name
150467434	CV1277570	single nucleotide variant	NM_001368882.1(COL13A1):c.657+145G>A	not provided [RCV001710865]	benign	10	69894846	69894846	Human		name
150457910	CV1278693	single nucleotide variant	NM_001368882.1(COL13A1):c.685-964A>G	not provided [RCV001709309]	benign	10	69897733	69897733	Human		name
150476429	CV1279250	single nucleotide variant	NM_001368882.1(COL13A1):c.967-200A>G	not provided [RCV001713981]	benign	10	69918085	69918085	Human		name
151753905	CV1501423	single nucleotide variant	NM_001368882.1(COL13A1):c.1399-11T>A	not provided [RCV001969478]	uncertain significance	10	69927076	69927076	Human		name
152160562	CV1522885	single nucleotide variant	NM_001368882.1(COL13A1):c.1423-12T>A	not provided [RCV002140847]	likely benign	10	69928925	69928925	Human		name
152105240	CV1536683	single nucleotide variant	NM_001368882.1(COL13A1):c.1486-13G>T	not provided [RCV002173625]	likely benign	10	69930030	69930030	Human		name
152031454	CV1546633	single nucleotide variant	NM_001368882.1(COL13A1):c.2184+20T>A	not provided [RCV002124557]	likely benign	10	69957062	69957062	Human		name
152176093	CV1562303	single nucleotide variant	NM_001368882.1(COL13A1):c.1486-13G>A	not provided [RCV002164233]	likely benign	10	69930030	69930030	Human		name
152123215	CV1570550	single nucleotide variant	NM_001368882.1(COL13A1):c.1231-18C>A	not provided [RCV002217060]	likely benign	10	69923784	69923784	Human		name
152155200	CV1579610	single nucleotide variant	NM_001368882.1(COL13A1):c.1284+16C>T	not provided [RCV002158758]	likely benign	10	69923871	69923871	Human		name
152143796	CV1582424	single nucleotide variant	NM_001368882.1(COL13A1):c.1969-12C>A	not provided [RCV002200925]	likely benign	10	69945659	69945659	Human		name
152145808	CV1582721	single nucleotide variant	NM_001368882.1(COL13A1):c.1969-16C>A	not provided [RCV002201223]	likely benign	10	69945655	69945655	Human		name
152141694	CV1583405	single nucleotide variant	NM_001368882.1(COL13A1):c.1486-16G>T	not provided [RCV002120461]	likely benign	10	69930027	69930027	Human		name
152058966	CV1595799	single nucleotide variant	NM_001368882.1(COL13A1):c.1143+14T>C	not provided [RCV002090029]	likely benign	10	69921949	69921949	Human		name
152162252	CV1606288	single nucleotide variant	NM_001368882.1(COL13A1):c.2184+16G>T	not provided [RCV002181132]	likely benign	10	69957058	69957058	Human		name
152168818	CV1613951	single nucleotide variant	NM_001368882.1(COL13A1):c.1798-13C>A	not provided [RCV002161244]	likely benign	10	69937622	69937622	Human		name
152146045	CV1631386	single nucleotide variant	NM_001368882.1(COL13A1):c.1230+10C>A	not provided [RCV002157446]	likely benign	10	69922804	69922804	Human		name
152111774	CV1640449	single nucleotide variant	NM_001368882.1(COL13A1):c.1771-13A>G	not provided [RCV002174427]	likely benign	10	69936743	69936743	Human		name
152091517	CV1646895	single nucleotide variant	NM_001368882.1(COL13A1):c.1879-14T>C	not provided [RCV002150652]	likely benign	10	69940974	69940974	Human		name
152131371	CV1647720	single nucleotide variant	NM_001368882.1(COL13A1):c.1530+13G>A	not provided [RCV002082909]	likely benign	10	69930100	69930100	Human		name
152124125	CV1660480	single nucleotide variant	NM_001368882.1(COL13A1):c.2058+18C>T	not provided [RCV002154641]	likely benign	10	69947360	69947360	Human		name
152040183	CV1669687	single nucleotide variant	NM_001368882.1(COL13A1):c.462+593T>C	not provided [RCV002224588]	uncertain significance	10	69878658	69878658	Human		name
156058586	CV1876051	single nucleotide variant	NM_001368882.1(COL13A1):c.1879-10C>T	not provided [RCV003053260]	likely benign	10	69940978	69940978	Human		name
156253876	CV1960611	single nucleotide variant	NM_001368882.1(COL13A1):c.1683+12G>A	not provided [RCV002576628]	likely benign	10	69930564	69930564	Human		name
156406583	CV1963681	single nucleotide variant	NM_001368882.1(COL13A1):c.1422+13C>T	not provided [RCV002585953]	likely benign	10	69927123	69927123	Human		name
156398504	CV1965920	single nucleotide variant	NM_001368882.1(COL13A1):c.2184+14T>C	not provided [RCV002584620]	likely benign	10	69957056	69957056	Human		name
156388602	CV1983251	single nucleotide variant	NM_001368882.1(COL13A1):c.1422+11C>A	not provided [RCV002634794]	likely benign	10	69927121	69927121	Human		name
156209408	CV1987046	single nucleotide variant	NM_001368882.1(COL13A1):c.1968+20G>A	not provided [RCV002626023]	likely benign	10	69944198	69944198	Human		name
156011060	CV1989780	single nucleotide variant	NM_001368882.1(COL13A1):c.1915-19C>T	not provided [RCV002636224]	likely benign	10	69944106	69944106	Human		name
156226279	CV1991541	single nucleotide variant	NM_001368882.1(COL13A1):c.1531-20G>A	not provided [RCV002626629]	likely benign	10	69930380	69930380	Human		name
156244365	CV1991604	single nucleotide variant	NM_001368882.1(COL13A1):c.1284+12C>T	not provided [RCV002645684]	likely benign	10	69923867	69923867	Human		name
156258340	CV1996862	single nucleotide variant	NM_001368882.1(COL13A1):c.1771-18G>A	not provided [RCV002646127]	likely benign	10	69936738	69936738	Human		name
155904532	CV2007245	single nucleotide variant	NM_001368882.1(COL13A1):c.1878+20C>G	not provided [RCV002681311]	likely benign	10	69937735	69937735	Human		name
156369771	CV2007635	single nucleotide variant	NM_001368882.1(COL13A1):c.2145+11G>A	not provided [RCV002676813]	likely benign	10	69952979	69952979	Human		name
156140556	CV2032912	single nucleotide variant	NM_001368882.1(COL13A1):c.1530+14T>A	not provided [RCV002740881]	likely benign	10	69930101	69930101	Human		name
156238303	CV2052969	single nucleotide variant	NM_001368882.1(COL13A1):c.1531-13G>T	not provided [RCV002791255]	likely benign	10	69930387	69930387	Human		name
155905169	CV2084131	single nucleotide variant	NM_001368882.1(COL13A1):c.1144-11T>C	not provided [RCV002858108]	likely benign	10	69922697	69922697	Human		name
156090186	CV2092903	single nucleotide variant	NM_001368882.1(COL13A1):c.1422+10G>C	not provided [RCV002926649]	likely benign	10	69927120	69927120	Human		name
156033494	CV2152726	single nucleotide variant	NM_001368882.1(COL13A1):c.1728+13T>C	not provided [RCV003018774]	likely benign	10	69932617	69932617	Human		name
155971171	CV2158145	single nucleotide variant	NM_001368882.1(COL13A1):c.1531-15T>G	not provided [RCV003033442]	likely benign	10	69930385	69930385	Human		name
156394891	CV2181935	single nucleotide variant	NM_001368882.1(COL13A1):c.2146-19C>T	not provided [RCV003051757]	likely benign	10	69956985	69956985	Human		name
402493656	CV2874228	single nucleotide variant	NM_001368882.1(COL13A1):c.2059-20G>A	not provided [RCV003545171]	likely benign	10	69952862	69952862	Human		name
405216192	CV2911191	single nucleotide variant	NM_001368882.1(COL13A1):c.1770+14G>A	not provided [RCV003567735]	likely benign	10	69935405	69935405	Human		name
402472198	CV2912021	single nucleotide variant	NM_001368882.1(COL13A1):c.1729-20G>T	not provided [RCV003570645]	likely benign	10	69935330	69935330	Human		name
402511961	CV2948401	single nucleotide variant	NM_001368882.1(COL13A1):c.1729-20G>A	not provided [RCV003662641]	likely benign	10	69935330	69935330	Human		name
405139239	CV2963350	single nucleotide variant	NM_001368882.1(COL13A1):c.2058+12C>G	not provided [RCV003668964]	likely benign	10	69947354	69947354	Human		name
405188112	CV2964161	single nucleotide variant	NM_001368882.1(COL13A1):c.2022+12G>A	not provided [RCV003676867]	likely benign	10	69945736	69945736	Human		name
405215115	CV2967786	single nucleotide variant	NM_001368882.1(COL13A1):c.1284+11C>T	not provided [RCV003679919]	likely benign	10	69923866	69923866	Human		name
402511921	CV2991208	single nucleotide variant	NM_001368882.1(COL13A1):c.2023-15T>G	not provided [RCV003689627]	likely benign	10	69947292	69947292	Human		name
405064909	CV3020801	single nucleotide variant	NM_001368882.1(COL13A1):c.1914+11C>T	not provided [RCV003697956]	likely benign	10	69941034	69941034	Human		name
405182919	CV3024422	single nucleotide variant	NM_001368882.1(COL13A1):c.2146-11T>C	not provided [RCV003705640]	likely benign	10	69956993	69956993	Human		name
405203169	CV3052850	single nucleotide variant	NM_001368882.1(COL13A1):c.1485+10A>T	not provided [RCV003730995]	likely benign	10	69929009	69929009	Human		name
405187404	CV3121205	single nucleotide variant	NM_001368882.1(COL13A1):c.2185-15G>A	not provided [RCV003820661]	likely benign	10	69958684	69958684	Human		name
404994411	CV3132511	single nucleotide variant	NM_001368882.1(COL13A1):c.1879-11C>T	not provided [RCV003827450]	likely benign	10	69940977	69940977	Human		name
405112544	CV3133617	single nucleotide variant	NM_001368882.1(COL13A1):c.1144-19C>T	not provided [RCV003836410]	likely benign	10	69922689	69922689	Human		name
405148761	CV3141803	single nucleotide variant	NM_001368882.1(COL13A1):c.2022+11T>G	not provided [RCV003839725]	likely benign	10	69945735	69945735	Human		name
405213280	CV3142659	single nucleotide variant	NM_001368882.1(COL13A1):c.1878+10T>G	not provided [RCV003846016]	likely benign	10	69937725	69937725	Human		name
405231665	CV3144552	single nucleotide variant	NM_001368882.1(COL13A1):c.2146-17T>C	not provided [RCV003853005]	likely benign	10	69956987	69956987	Human		name
405049190	CV3150828	single nucleotide variant	NM_001368882.1(COL13A1):c.1329+18C>T	not provided [RCV003849432]	likely benign	10	69925025	69925025	Human		name
405156503	CV3152518	single nucleotide variant	NM_001368882.1(COL13A1):c.1968+15G>A	not provided [RCV003840445]	likely benign	10	69944193	69944193	Human		name
405166824	CV3153649	single nucleotide variant	NM_001368882.1(COL13A1):c.1878+20C>T	not provided [RCV003841194]	likely benign	10	69937735	69937735	Human		name
405220194	CV3154375	single nucleotide variant	NM_001368882.1(COL13A1):c.1329+13C>T	not provided [RCV003847067]	likely benign	10	69925020	69925020	Human		name
405169772	CV3156953	single nucleotide variant	NM_001368882.1(COL13A1):c.1729-18C>T	not provided [RCV003857657]	likely benign	10	69935332	69935332	Human		name
405206165	CV3161945	single nucleotide variant	NM_001368882.1(COL13A1):c.2058+16T>C	not provided [RCV003861439]	likely benign	10	69947358	69947358	Human		name
405205248	CV3165649	single nucleotide variant	NM_001368882.1(COL13A1):c.1683+13G>A	not provided [RCV003861315]	likely benign	10	69930565	69930565	Human		name
405289898	CV3219189	single nucleotide variant	NM_001368882.1(COL13A1):c.1914+10A>G	COL13A1-related disorder [RCV003962072]	likely benign	10	69941033	69941033	Human		name , trait , alternate_id
597899313	CV3740925	single nucleotide variant	NM_001368882.1(COL13A1):c.1144-13C>T	not provided [RCV005072088]	likely benign	10	69922695	69922695	Human		name
597860553	CV3748688	single nucleotide variant	NM_001368882.1(COL13A1):c.1797+14A>C	not provided [RCV005067320]	likely benign	10	69936796	69936796	Human		name
597844665	CV3752645	single nucleotide variant	NM_001368882.1(COL13A1):c.2058+12C>A	not provided [RCV005087051]	likely benign	10	69947354	69947354	Human		name
597969631	CV3753402	single nucleotide variant	NM_001368882.1(COL13A1):c.1284+11C>A	not provided [RCV005083887]	likely benign	10	69923866	69923866	Human		name
597951391	CV3756448	single nucleotide variant	NM_001368882.1(COL13A1):c.2058+10A>G	not provided [RCV005079505]	likely benign	10	69947352	69947352	Human		name
597918789	CV3811582	single nucleotide variant	NM_001368882.1(COL13A1):c.1729-13C>T	not provided [RCV005155413]	likely benign	10	69935337	69935337	Human		name
597969272	CV3821451	single nucleotide variant	NM_001368882.1(COL13A1):c.1728+13T>A	not provided [RCV005166093]	likely benign	10	69932617	69932617	Human		name
597867969	CV3858225	single nucleotide variant	NM_001368882.1(COL13A1):c.1399-20G>A	not provided [RCV005196968]	likely benign	10	69927067	69927067	Human		name
15161728	CV759892	single nucleotide variant	NM_001368882.1(COL13A1):c.1770+10G>A	COL13A1-related disorder [RCV003960441]\|not provided [RCV000925743]	likely benign	10	69935401	69935401	Human	1	name , trait , alternate_id
15195064	CV775525	single nucleotide variant	NM_001368882.1(COL13A1):c.1728+10A>G	not provided [RCV000933826]	likely benign	10	69932614	69932614	Human		name
150458023	CV1207319	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1181A>G	Congenital myasthenic syndrome 19 [RCV001582449]\|not provided [RCV001655920]	benign	10	69897516	69897516	Human	1	name
150510341	CV1211583	single nucleotide variant	NM_001368882.1(COL13A1):c.1968+228A>G	not provided [RCV001597375]	benign	10	69944406	69944406	Human		name
150514301	CV1213415	single nucleotide variant	NM_001368882.1(COL13A1):c.1968+211C>T	not provided [RCV001599006]	benign	10	69944389	69944389	Human		name
150461468	CV1215808	single nucleotide variant	NM_001368882.1(COL13A1):c.1968+298C>T	not provided [RCV001613511]	benign	10	69944476	69944476	Human		name
150472682	CV1217220	single nucleotide variant	NM_001368882.1(COL13A1):c.364+1563C>T	not provided [RCV001615515]	benign	10	69824001	69824001	Human		name
150473185	CV1217587	single nucleotide variant	NM_001368882.1(COL13A1):c.1798-162A>G	not provided [RCV001615598]	benign	10	69937473	69937473	Human		name
150436533	CV1220563	single nucleotide variant	NM_001368882.1(COL13A1):c.1770+143T>C	not provided [RCV001609547]	benign	10	69935534	69935534	Human		name
150482404	CV1221048	single nucleotide variant	NM_001368882.1(COL13A1):c.2145+172G>A	not provided [RCV001617133]	benign	10	69953140	69953140	Human		name
150512947	CV1228848	single nucleotide variant	NM_001368882.1(COL13A1):c.2022+261T>A	not provided [RCV001637690]	benign	10	69945985	69945985	Human		name
150433602	CV1230580	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1413G>A	not provided [RCV001643525]	benign	10	69897284	69897284	Human		name
150433821	CV1230634	single nucleotide variant	NM_001368882.1(COL13A1):c.1090-108C>A	not provided [RCV001643580]	benign	10	69921774	69921774	Human		name
150430892	CV1231085	single nucleotide variant	NM_001368882.1(COL13A1):c.2146-227G>C	not provided [RCV001641634]	benign	10	69956777	69956777	Human		name
150432968	CV1231614	single nucleotide variant	NM_001368882.1(COL13A1):c.1797+294C>T	not provided [RCV001643276]	benign	10	69937076	69937076	Human		name
150430014	CV1231890	single nucleotide variant	NM_001368882.1(COL13A1):c.1486-154T>G	not provided [RCV001641151]	benign	10	69929889	69929889	Human		name
150461137	CV1234739	single nucleotide variant	NM_001368882.1(COL13A1):c.1026+235C>T	not provided [RCV001649321]	benign	10	69919323	69919323	Human		name
150431026	CV1235310	single nucleotide variant	NM_001368882.1(COL13A1):c.2146-232T>C	not provided [RCV001641680]	benign	10	69956772	69956772	Human		name
150487995	CV1237415	single nucleotide variant	NM_001368882.1(COL13A1):c.2059-136C>T	not provided [RCV001654264]	benign	10	69952746	69952746	Human		name
150491779	CV1238057	single nucleotide variant	NM_001368882.1(COL13A1):c.2146-121C>T	not provided [RCV001654903]	benign	10	69956883	69956883	Human		name
150480853	CV1239664	single nucleotide variant	NM_001368882.1(COL13A1):c.1285-189A>G	not provided [RCV001652827]	benign	10	69924774	69924774	Human		name
150466483	CV1240417	single nucleotide variant	NM_001368882.1(COL13A1):c.2146-251C>T	not provided [RCV001650178]	benign	10	69956753	69956753	Human		name
150506506	CV1242230	single nucleotide variant	NM_001368882.1(COL13A1):c.1530+125G>A	not provided [RCV001658584]	benign	10	69930212	69930212	Human		name
150510048	CV1248486	single nucleotide variant	NM_001368882.1(COL13A1):c.1683+167C>G	not provided [RCV001659555]	benign	10	69930719	69930719	Human		name
150490739	CV1251077	duplication	NM_001368882.1(COL13A1):c.1729-261dup	not provided [RCV001674745]	benign	10	69935078	69935079	Human		name
150490908	CV1251104	single nucleotide variant	NM_001368882.1(COL13A1):c.1398+233C>A	not provided [RCV001674772]	benign	10	69926105	69926105	Human		name
150474687	CV1251314	single nucleotide variant	NM_001368882.1(COL13A1):c.1878+160T>G	not provided [RCV001671808]	benign	10	69937875	69937875	Human		name
150486610	CV1251384	single nucleotide variant	NM_001368882.1(COL13A1):c.1683+276C>A	not provided [RCV001674055]	benign	10	69930828	69930828	Human		name
150472774	CV1252299	deletion	NM_001368882.1(COL13A1):c.1530+132del	not provided [RCV001671500]	benign	10	69930211	69930211	Human		name
150497134	CV1256655	single nucleotide variant	NM_001368882.1(COL13A1):c.1728+196C>G	not provided [RCV001676147]	benign	10	69932800	69932800	Human		name
150472463	CV1259299	deletion	NM_001368882.1(COL13A1):c.1143+315del	not provided [RCV001684545]	benign	10	69922240	69922240	Human		name
150462820	CV1263715	single nucleotide variant	NM_001368882.1(COL13A1):c.1399-166G>A	not provided [RCV001682416]	benign	10	69926921	69926921	Human		name
150471909	CV1270170	single nucleotide variant	NM_001368882.1(COL13A1):c.1399-227T>C	not provided [RCV001695458]	benign	10	69926860	69926860	Human		name
150448875	CV1275599	single nucleotide variant	NM_001368882.1(COL13A1):c.1968+247T>G	not provided [RCV001708054]	benign	10	69944425	69944425	Human		name
150509078	CV1284445	single nucleotide variant	NM_001368882.1(COL13A1):c.1728+123T>C	not provided [RCV001720553]	benign	10	69932727	69932727	Human		name
8652261	CV128836	single nucleotide variant	NM_001130103.1(COL13A1):c.436-1491A>G	Lung cancer [RCV000109323]	uncertain significance	10	69879012	69879012	Human		name
151829485	CV1489331	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1238T>G	not provided [RCV001934916]	likely benign\|uncertain significance	10	69897459	69897459	Human		name
151814303	CV1494820	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1207A>C	not provided [RCV001954130]	uncertain significance	10	69897490	69897490	Human		name
152144901	CV1582587	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1147G>T	not provided [RCV002201088]	likely benign	10	69897550	69897550	Human		name
152159631	CV1588189	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1148G>A	not provided [RCV002180704]	benign	10	69897549	69897549	Human		name
152075067	CV1599396	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1226C>T	not provided [RCV002075619]	likely benign	10	69897471	69897471	Human		name
152148091	CV1653863	microsatellite	NM_001368882.1(COL13A1):c.967-14TC[5]	not provided [RCV002139104]	likely benign	10	69918270	69918271	Human		name
155663969	CV1773201	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1173C>T	not provided [RCV002296913]	uncertain significance	10	69897524	69897524	Human		name
156413090	CV1968943	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1187C>T	not provided [RCV002608737]	likely benign	10	69897510	69897510	Human		name
155997673	CV1986992	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1206T>C	not provided [RCV002618302]	uncertain significance	10	69897491	69897491	Human		name
156190035	CV1994572	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1192C>A	not provided [RCV002643285]	uncertain significance	10	69897505	69897505	Human		name
156159507	CV2147255	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1148G>T	not provided [RCV003023141]	likely benign	10	69897549	69897549	Human		name
405152394	CV3063768	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1226C>G	not provided [RCV003726431]	likely benign	10	69897471	69897471	Human		name
405268673	CV3187099	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1192C>T	not provided [RCV003887182]	uncertain significance	10	69897505	69897505	Human		name
405686771	CV3306989	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1207A>G	Inborn genetic diseases [RCV004444539]	uncertain significance	10	69897490	69897490	Human	1	name
597926857	CV3748953	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1223G>C	not provided [RCV005075409]	likely pathogenic	10	69897474	69897474	Human		name
597966070	CV3823679	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1203C>T	not provided [RCV005165099]	uncertain significance	10	69897494	69897494	Human		name
13509336	CV481352	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1164T>C	Congenital myasthenic syndrome 19 [RCV000578262]	likely pathogenic	10	69897533	69897533	Human	1	name
15159365	CV777867	single nucleotide variant	NM_001368882.1(COL13A1):c.685-1162T>C	not provided [RCV000947260]\|not specified [RCV001818938]	benign	10	69897535	69897535	Human		name
152060251	CV1536269	duplication	NM_001368882.1(COL13A1):c.514-5_514-4dup	not provided [RCV002146687]	benign	10	69887440	69887441	Human		name
405158131	CV3159786	deletion	NM_001368882.1(COL13A1):c.514-5_514-4del	not provided [RCV003856857]	benign	10	69887441	69887442	Human		name
15165848	CV737565	single nucleotide variant	NM_001368882.1(COL13A1):c.6A>G (p.Val2=)	COL13A1-related disorder [RCV003968293]\|not provided [RCV000904314]	likely benign	10	69802429	69802429	Human	1	name , trait , alternate_id
15169390	CV744625	microsatellite	NM_001368882.1(COL13A1):c.685-7_685-6del	COL13A1-related disorder [RCV003950641]\|not provided [RCV000905048]	likely benign	10	69898688	69898689	Human		name , trait , alternate_id
405120844	CV2888019	single nucleotide variant	NM_001368882.1(COL13A1):c.24A>G (p.Lys8=)	not provided [RCV003559077]	likely benign	10	69802447	69802447	Human		name
402498122	CV3038178	single nucleotide variant	NM_001368882.1(COL13A1):c.12G>A (p.Glu4=)	not provided [RCV003714460]	likely benign	10	69802435	69802435	Human		name
15142273	CV783668	single nucleotide variant	NM_001368882.1(COL13A1):c.27G>A (p.Ala9=)	not provided [RCV000983126]	likely benign	10	69802450	69802450	Human		name
150508990	CV1244967	deletion	NM_001368882.1(COL13A1):c.859-12_859-11del	not provided [RCV001659218]	benign	10	69904906	69904907	Human		name
151765785	CV1495951	single nucleotide variant	NM_001368882.1(COL13A1):c.7G>A (p.Ala3Thr)	not provided [RCV001873959]	uncertain significance	10	69802430	69802430	Human		name
152104001	CV1614426	single nucleotide variant	NM_001368882.1(COL13A1):c.90G>T (p.Ala30=)	not provided [RCV002079348]	likely benign	10	69802513	69802513	Human		name
152152704	CV1661016	deletion	NM_001368882.1(COL13A1):c.463-31_463-12del	not provided [RCV002121977]	likely benign	10	69880468	69880487	Human		name
156248249	CV1988291	microsatellite	NM_001368882.1(COL13A1):c.373-11_373-10del	not provided [RCV002645810]	uncertain significance	10	69872171	69872172	Human		name
156047159	CV1996641	deletion	NM_001368882.1(COL13A1):c.885+12_885+14del	not provided [RCV002659244]	likely benign	10	69904969	69904971	Human		name
156203974	CV2011093	single nucleotide variant	NM_001368882.1(COL13A1):c.66G>T (p.Ala22=)	not provided [RCV002700376]	likely benign	10	69802489	69802489	Human		name
156152605	CV2070473	single nucleotide variant	NM_001368882.1(COL13A1):c.84G>A (p.Leu28=)	not provided [RCV002850920]	likely benign	10	69802507	69802507	Human		name
156139724	CV2116597	single nucleotide variant	NM_001368882.1(COL13A1):c.93G>A (p.Ala31=)	not provided [RCV002914861]	likely benign	10	69802516	69802516	Human		name
155970354	CV2152535	single nucleotide variant	NM_001368882.1(COL13A1):c.69C>G (p.Pro23=)	not provided [RCV003015906]	likely benign	10	69802492	69802492	Human		name
405279402	CV3217447	single nucleotide variant	NM_001368882.1(COL13A1):c.66G>A (p.Ala22=)	COL13A1-related disorder [RCV003976859]	likely benign	10	69802489	69802489	Human		name , trait , alternate_id
597856163	CV3758757	duplication	NM_001368882.1(COL13A1):c.1422+4_1422+6dup	not provided [RCV005088717]	likely benign	10	69927113	69927114	Human		name
597833128	CV3760394	single nucleotide variant	NM_001368882.1(COL13A1):c.90G>A (p.Ala30=)	not provided [RCV005085137]	likely benign	10	69802513	69802513	Human		name
597957608	CV3814406	single nucleotide variant	NM_001368882.1(COL13A1):c.75G>A (p.Thr25=)	not provided [RCV005162737]	likely benign	10	69802498	69802498	Human		name
150451911	CV1207315	single nucleotide variant	NM_001368882.1(COL13A1):c.258G>A (p.Thr86=)	Congenital myasthenic syndrome 19 [RCV001582445]\|not provided [RCV002070446]	benign	10	69802681	69802681	Human	1	name
151824641	CV1442633	single nucleotide variant	NM_001368882.1(COL13A1):c.13C>T (p.Arg5Cys)	not provided [RCV002013723]	uncertain significance	10	69802436	69802436	Human		name
152037563	CV1596355	single nucleotide variant	NM_001368882.1(COL13A1):c.198C>T (p.Ala66=)	not provided [RCV002125595]	likely benign	10	69802621	69802621	Human		name
152169383	CV1637032	single nucleotide variant	NM_001368882.1(COL13A1):c.162G>T (p.Ser54=)	not provided [RCV002182776]	likely benign	10	69802585	69802585	Human		name
152040560	CV1644157	single nucleotide variant	NM_001368882.1(COL13A1):c.126A>G (p.Pro42=)	not provided [RCV002126029]	likely benign	10	69802549	69802549	Human		name
152148057	CV1656317	single nucleotide variant	NM_001368882.1(COL13A1):c.120G>A (p.Pro40=)	not provided [RCV002220358]	likely benign	10	69802543	69802543	Human		name
156194217	CV1994810	single nucleotide variant	NM_001368882.1(COL13A1):c.231G>A (p.Ala77=)	not provided [RCV002643408]	likely benign	10	69802654	69802654	Human		name
156208160	CV2131419	single nucleotide variant	NM_001368882.1(COL13A1):c.138G>T (p.Gly46=)	not provided [RCV002985481]	likely benign	10	69802561	69802561	Human		name
405254188	CV3045230	single nucleotide variant	NM_001368882.1(COL13A1):c.132G>C (p.Ser44=)	not provided [RCV003722821]	likely benign	10	69802555	69802555	Human		name
405199329	CV3056649	deletion	NM_001368882.1(COL13A1):c.76del (p.Val26fs)	not provided [RCV003730619]	pathogenic	10	69802498	69802498	Human		name
405173535	CV3122943	single nucleotide variant	NM_001368882.1(COL13A1):c.180C>A (p.Leu60=)	not provided [RCV003819341]	likely benign	10	69802603	69802603	Human		name
407451069	CV3426022	single nucleotide variant	NM_001368882.1(COL13A1):c.25G>A (p.Ala9Thr)	Inborn genetic diseases [RCV004607925]	uncertain significance	10	69802448	69802448	Human	1	name
597960882	CV3753138	single nucleotide variant	NM_001368882.1(COL13A1):c.141G>A (p.Leu47=)	not provided [RCV005081638]	likely benign	10	69802564	69802564	Human		name
597893839	CV3763544	single nucleotide variant	NM_001368882.1(COL13A1):c.183C>T (p.Ala61=)	not provided [RCV005111125]	likely benign	10	69802606	69802606	Human		name
597922788	CV3777792	single nucleotide variant	NM_001368882.1(COL13A1):c.225G>C (p.Leu75=)	not provided [RCV005130516]	likely benign	10	69802648	69802648	Human		name
597946426	CV3790130	single nucleotide variant	NM_001368882.1(COL13A1):c.222C>G (p.Arg74=)	not provided [RCV005134831]	likely benign	10	69802645	69802645	Human		name
597903438	CV3804633	single nucleotide variant	NM_001368882.1(COL13A1):c.108C>T (p.Gly36=)	not provided [RCV005153068]	likely benign	10	69802531	69802531	Human		name
597864891	CV3810569	single nucleotide variant	NM_001368882.1(COL13A1):c.129G>A (p.Gly43=)	not provided [RCV005147358]	likely benign	10	69802552	69802552	Human		name
598216638	CV3952212	single nucleotide variant	NM_001368882.1(COL13A1):c.13C>A (p.Arg5Ser)	Inborn genetic diseases [RCV005316952]	likely benign	10	69802436	69802436	Human	1	name
15187574	CV701417	single nucleotide variant	NM_001368882.1(COL13A1):c.180C>T (p.Leu60=)	not provided [RCV000953630]	likely benign	10	69802603	69802603	Human		name
15189053	CV737566	single nucleotide variant	NM_001368882.1(COL13A1):c.237C>A (p.Arg79=)	COL13A1-related disorder [RCV003912992]\|not provided [RCV000909541]	benign	10	69802660	69802660	Human	1	name , trait , alternate_id
150435451	CV1207318	single nucleotide variant	NM_001368882.1(COL13A1):c.525A>C (p.Gly175=)	Congenital myasthenic syndrome 19 [RCV001582448]\|not provided [RCV001615345]	benign	10	69887467	69887467	Human	1	name
150458031	CV1207320	single nucleotide variant	NM_001368882.1(COL13A1):c.744G>A (p.Thr248=)	Congenital myasthenic syndrome 19 [RCV001582450]\|not provided [RCV001655921]	benign	10	69898756	69898756	Human	1	name
150458038	CV1207321	single nucleotide variant	NM_001368882.1(COL13A1):c.984C>G (p.Ala328=)	Congenital myasthenic syndrome 19 [RCV001582451]\|not provided [RCV001655922]	benign	10	69918302	69918302	Human	1	name
150510407	CV1211649	deletion	NM_001368882.1(COL13A1):c.603+271_603+273del	not provided [RCV001597441]	benign	10	69889710	69889712	Human		name
150475847	CV1216725	deletion	NM_001368882.1(COL13A1):c.372+332_372+334del	not provided [RCV001616018]	benign	10	69868120	69868122	Human		name
150506621	CV1226390	deletion	NM_001368882.1(COL13A1):c.603+275_603+279del	not provided [RCV001635758]	benign	10	69889715	69889719	Human		name
150444858	CV1278054	deletion	NM_001368882.1(COL13A1):c.372+331_372+334del	not provided [RCV001707197]	benign	10	69868120	69868123	Human		name
151878479	CV1350314	single nucleotide variant	NM_001368882.1(COL13A1):c.726G>A (p.Pro242=)	not provided [RCV002036546]	likely benign\|uncertain significance	10	69898738	69898738	Human		name
151822265	CV1355194	single nucleotide variant	NM_001368882.1(COL13A1):c.597C>T (p.Gly199=)	not provided [RCV001934259]	likely benign\|uncertain significance	10	69889434	69889434	Human		name
151759256	CV1391863	single nucleotide variant	NM_001368882.1(COL13A1):c.29C>T (p.Ala10Val)	not provided [RCV002044081]	uncertain significance	10	69802452	69802452	Human		name
151726360	CV1416027	single nucleotide variant	NM_001368882.1(COL13A1):c.471C>A (p.Pro157=)	not provided [RCV001945572]	likely benign\|uncertain significance	10	69880511	69880511	Human		name
152037844	CV1529668	single nucleotide variant	NM_001368882.1(COL13A1):c.984C>T (p.Ala328=)	not provided [RCV002187800]	likely benign	10	69918302	69918302	Human		name
152139390	CV1533493	single nucleotide variant	NM_001368882.1(COL13A1):c.555C>T (p.Pro185=)	COL13A1-related disorder [RCV003913630]\|not provided [RCV002083951]	benign\|likely benign	10	69888309	69888309	Human	1	name , trait , alternate_id
152143900	CV1543054	single nucleotide variant	NM_001368882.1(COL13A1):c.837G>T (p.Leu279=)	not provided [RCV002178428]	likely benign	10	69902834	69902834	Human		name
152168368	CV1547985	single nucleotide variant	NM_001368882.1(COL13A1):c.615T>C (p.Gly205=)	not provided [RCV002161104]	benign	10	69894563	69894563	Human		name
152073321	CV1556599	single nucleotide variant	NM_001368882.1(COL13A1):c.798C>A (p.Gly266=)	not provided [RCV002111759]	likely benign	10	69902795	69902795	Human		name
152033594	CV1581728	single nucleotide variant	NM_001368882.1(COL13A1):c.873T>C (p.Pro291=)	not provided [RCV002086826]	likely benign	10	69904947	69904947	Human		name
152077172	CV1592160	single nucleotide variant	NM_001368882.1(COL13A1):c.912C>T (p.His304=)	COL13A1-related disorder [RCV003951028]\|not provided [RCV002112263]	likely benign	10	69905813	69905813	Human	1	name , trait , alternate_id
152101198	CV1621656	single nucleotide variant	NM_001368882.1(COL13A1):c.562C>T (p.Leu188=)	not provided [RCV002115368]	likely benign	10	69888316	69888316	Human		name
152151238	CV1631313	single nucleotide variant	NM_001368882.1(COL13A1):c.984C>A (p.Ala328=)	not provided [RCV002179482]	likely benign	10	69918302	69918302	Human		name
152076447	CV1632712	single nucleotide variant	NM_001368882.1(COL13A1):c.531A>G (p.Arg177=)	not provided [RCV002169979]	likely benign	10	69887473	69887473	Human		name
156125044	CV1969369	single nucleotide variant	NM_001368882.1(COL13A1):c.354C>T (p.Asn118=)	not provided [RCV002593276]	likely benign	10	69822428	69822428	Human		name
155980179	CV1972376	single nucleotide variant	NM_001368882.1(COL13A1):c.381T>G (p.Thr127=)	not provided [RCV002617564]	likely benign	10	69872192	69872192	Human		name
156012230	CV1986015	single nucleotide variant	NM_001368882.1(COL13A1):c.495T>A (p.Ile165=)	not provided [RCV002636283]	likely benign\|uncertain significance	10	69880535	69880535	Human		name
156371641	CV2007810	single nucleotide variant	NM_001368882.1(COL13A1):c.762C>T (p.Ser254=)	not provided [RCV002676947]	likely benign	10	69902759	69902759	Human		name
156096327	CV2012861	single nucleotide variant	NM_001368882.1(COL13A1):c.630G>A (p.Pro210=)	not provided [RCV002706500]	uncertain significance	10	69894578	69894578	Human		name
156002839	CV2014840	single nucleotide variant	NM_001368882.1(COL13A1):c.357C>T (p.Cys119=)	not provided [RCV002690137]	likely benign	10	69822431	69822431	Human		name
156217112	CV2039202	single nucleotide variant	NM_001368882.1(COL13A1):c.35C>G (p.Thr12Ser)	not provided [RCV002766844]	uncertain significance	10	69802458	69802458	Human		name
156286437	CV2039263	single nucleotide variant	NM_001368882.1(COL13A1):c.303G>A (p.Lys101=)	not provided [RCV002770580]	likely benign	10	69822377	69822377	Human		name
156239703	CV2129487	single nucleotide variant	NM_001368882.1(COL13A1):c.504C>T (p.Arg168=)	not provided [RCV002958824]	likely benign	10	69880544	69880544	Human		name
156320848	CV2138065	single nucleotide variant	NM_001368882.1(COL13A1):c.516T>C (p.Gly172=)	not provided [RCV002963184]	likely benign	10	69887458	69887458	Human		name
155960182	CV2138298	single nucleotide variant	NM_001368882.1(COL13A1):c.549G>A (p.Pro183=)	not provided [RCV002972345]	uncertain significance	10	69887491	69887491	Human		name
405180648	CV2956263	single nucleotide variant	NM_001368882.1(COL13A1):c.969G>A (p.Gly323=)	not provided [RCV003676231]	likely benign	10	69918287	69918287	Human		name
405122241	CV3004251	single nucleotide variant	NM_001368882.1(COL13A1):c.720A>T (p.Pro240=)	not provided [RCV003724015]	likely benign	10	69898732	69898732	Human		name
402503994	CV3041843	single nucleotide variant	NM_001368882.1(COL13A1):c.957T>C (p.His319=)	not provided [RCV003715026]	likely benign	10	69917324	69917324	Human		name
405241253	CV3061071	single nucleotide variant	NM_001368882.1(COL13A1):c.798C>G (p.Gly266=)	COL13A1-related disorder [RCV003948980]\|not provided [RCV003737309]	likely benign	10	69902795	69902795	Human	1	name , trait , alternate_id
405219573	CV3154259	single nucleotide variant	NM_001368882.1(COL13A1):c.780T>C (p.Gly260=)	not provided [RCV003846951]	likely benign	10	69902777	69902777	Human		name
405280712	CV3195655	single nucleotide variant	NM_001368882.1(COL13A1):c.540T>C (p.Pro180=)	COL13A1-related disorder [RCV003906891]	likely benign	10	69887482	69887482	Human		name , trait , alternate_id
407426075	CV3409726	single nucleotide variant	NM_001368882.1(COL13A1):c.798C>T (p.Gly266=)	not provided [RCV004585658]	likely benign	10	69902795	69902795	Human		name
597960228	CV3756159	single nucleotide variant	NM_001368882.1(COL13A1):c.975C>T (p.Pro325=)	not provided [RCV005081475]	likely benign	10	69918293	69918293	Human		name
597851629	CV3758484	single nucleotide variant	NM_001368882.1(COL13A1):c.906C>G (p.Gly302=)	not provided [RCV005088042]	likely benign	10	69905807	69905807	Human		name
597952350	CV3815759	single nucleotide variant	NM_001368882.1(COL13A1):c.528T>C (p.Thr176=)	not provided [RCV005161512]	likely benign	10	69887470	69887470	Human		name
597932114	CV3827205	single nucleotide variant	NM_001368882.1(COL13A1):c.786A>G (p.Pro262=)	not provided [RCV005157218]	likely benign	10	69902783	69902783	Human		name
598216648	CV3952214	single nucleotide variant	NM_001368882.1(COL13A1):c.50C>G (p.Pro17Arg)	Inborn genetic diseases [RCV005316954]	uncertain significance	10	69802473	69802473	Human	1	name
15159239	CV724032	single nucleotide variant	NM_001368882.1(COL13A1):c.67C>A (p.Pro23Thr)	COL13A1-related disorder [RCV003967985]\|not provided [RCV000881157]	likely benign	10	69802490	69802490	Human	1	name , trait , alternate_id
15190051	CV724034	single nucleotide variant	NM_001368882.1(COL13A1):c.570C>G (p.Gly190=)	COL13A1-related disorder [RCV003910518]\|not provided [RCV000887994]	likely benign	10	69888324	69888324	Human	1	name , trait , alternate_id
15154747	CV724035	single nucleotide variant	NM_001368882.1(COL13A1):c.975C>A (p.Pro325=)	COL13A1-related disorder [RCV003940402]\|not provided [RCV000880279]	benign\|likely benign	10	69918293	69918293	Human	1	name , trait , alternate_id
15139604	CV737567	single nucleotide variant	NM_001368882.1(COL13A1):c.933C>T (p.Gly311=)	COL13A1-related disorder [RCV003975708]\|not provided [RCV000899173]	likely benign	10	69917300	69917300	Human	1	name , trait , alternate_id
15137273	CV752203	single nucleotide variant	NM_001368882.1(COL13A1):c.390C>T (p.Pro130=)	COL13A1-related disorder [RCV003942842]\|not provided [RCV000921144]	benign\|likely benign	10	69872201	69872201	Human	1	name , trait , alternate_id
15140414	CV752205	single nucleotide variant	NM_001368882.1(COL13A1):c.471C>T (p.Pro157=)	not provided [RCV000921673]	likely benign	10	69880511	69880511	Human		name
15197579	CV752206	single nucleotide variant	NM_001368882.1(COL13A1):c.477C>T (p.Asp159=)	COL13A1-related disorder [RCV003932998]\|not provided [RCV000912013]	likely benign	10	69880517	69880517	Human	1	name , trait , alternate_id
15105677	CV752207	single nucleotide variant	NM_001368882.1(COL13A1):c.753C>T (p.Gly251=)	COL13A1-related disorder [RCV003933040]\|not provided [RCV000915595]	benign\|likely benign	10	69902750	69902750	Human	1	name , trait , alternate_id
15195802	CV767877	single nucleotide variant	NM_001368882.1(COL13A1):c.567C>T (p.Asp189=)	COL13A1-related disorder [RCV003903105]\|not provided [RCV000934041]	likely benign	10	69888321	69888321	Human	1	name , trait , alternate_id
15111806	CV767878	single nucleotide variant	NM_001368882.1(COL13A1):c.972G>A (p.Ala324=)	not provided [RCV000938821]	likely benign	10	69918290	69918290	Human		name
151860346	CV1337644	single nucleotide variant	NM_001368882.1(COL13A1):c.2148C>T (p.Gly716=)	not provided [RCV001923917]	likely benign\|uncertain significance	10	69957006	69957006	Human		name
151779947	CV1340354	single nucleotide variant	NM_001368882.1(COL13A1):c.187T>C (p.Phe63Leu)	not provided [RCV001930341]	uncertain significance	10	69802610	69802610	Human		name
151781038	CV1341834	single nucleotide variant	NM_001368882.1(COL13A1):c.133T>A (p.Cys45Ser)	not provided [RCV001897240]	uncertain significance	10	69802556	69802556	Human		name
151814040	CV1382281	single nucleotide variant	NM_001368882.1(COL13A1):c.221G>A (p.Arg74His)	not provided [RCV001992107]	uncertain significance	10	69802644	69802644	Human		name
151790991	CV1399955	single nucleotide variant	NM_001368882.1(COL13A1):c.118C>T (p.Pro40Ser)	Inborn genetic diseases [RCV004044099]\|not provided [RCV001916818]	uncertain significance	10	69802541	69802541	Human	1	name
151788064	CV1412945	single nucleotide variant	NM_001368882.1(COL13A1):c.1878C>T (p.Pro626=)	not provided [RCV001989796]	conflicting interpretations of pathogenicity\|uncertain significance	10	69937715	69937715	Human		name
151725224	CV1418138	single nucleotide variant	NM_001368882.1(COL13A1):c.221G>T (p.Arg74Leu)	COL13A1-related disorder [RCV003395270]\|Inborn genetic diseases [RCV002554230]\|not provided [RCV001891634]	uncertain significance	10	69802644	69802644	Human	2	name , trait , alternate_id
151830293	CV1426417	single nucleotide variant	NM_001368882.1(COL13A1):c.102G>T (p.Glu34Asp)	not provided [RCV001976585]	uncertain significance	10	69802525	69802525	Human		name
151784907	CV1435277	single nucleotide variant	NM_001368882.1(COL13A1):c.292G>A (p.Glu98Lys)	not provided [RCV001916220]	uncertain significance	10	69802715	69802715	Human		name
151759550	CV1443814	single nucleotide variant	NM_001368882.1(COL13A1):c.262A>G (p.Ile88Val)	not provided [RCV001873077]	uncertain significance	10	69802685	69802685	Human		name
151777233	CV1454004	single nucleotide variant	NM_001368882.1(COL13A1):c.109G>A (p.Ala37Thr)	not provided [RCV001915543]	uncertain significance	10	69802532	69802532	Human		name
151871012	CV1476969	single nucleotide variant	NM_001368882.1(COL13A1):c.1962C>T (p.Gly654=)	not provided [RCV001906477]	likely benign\|uncertain significance	10	69944172	69944172	Human		name
151803819	CV1492094	single nucleotide variant	NM_001368882.1(COL13A1):c.1410G>A (p.Thr470=)	not provided [RCV002048221]	likely benign	10	69927098	69927098	Human		name
151719885	CV1498183	single nucleotide variant	NM_001368882.1(COL13A1):c.1269G>T (p.Gly423=)	not provided [RCV001965808]	likely benign\|uncertain significance	10	69923840	69923840	Human		name
151872700	CV1499230	single nucleotide variant	NM_001368882.1(COL13A1):c.112C>T (p.Arg38Trp)	Inborn genetic diseases [RCV002545753]\|not provided [RCV001885475]	uncertain significance	10	69802535	69802535	Human	1	name
152117276	CV1524096	single nucleotide variant	NM_001368882.1(COL13A1):c.1701C>T (p.Ala567=)	not provided [RCV002135256]	likely benign	10	69932577	69932577	Human		name
152059615	CV1564521	single nucleotide variant	NM_001368882.1(COL13A1):c.1095G>A (p.Glu365=)	not provided [RCV002190367]	likely benign	10	69921887	69921887	Human		name
152149064	CV1569219	single nucleotide variant	NM_001368882.1(COL13A1):c.1491G>A (p.Glu497=)	not provided [RCV002220510]	likely benign	10	69930048	69930048	Human		name
152121662	CV1570288	single nucleotide variant	NM_001368882.1(COL13A1):c.1518C>T (p.His506=)	COL13A1-related disorder [RCV003968810]\|not provided [RCV002216863]	likely benign	10	69930075	69930075	Human	1	name , trait , alternate_id
152092951	CV1584533	single nucleotide variant	NM_001368882.1(COL13A1):c.1791A>G (p.Gly597=)	not provided [RCV002114325]	likely benign	10	69936776	69936776	Human		name
152144576	CV1598711	single nucleotide variant	NM_001368882.1(COL13A1):c.1773G>A (p.Gly591=)	not provided [RCV002157232]	likely benign	10	69936758	69936758	Human		name
152111291	CV1634710	single nucleotide variant	NM_001368882.1(COL13A1):c.1752G>A (p.Glu584=)	not provided [RCV002096885]	likely benign	10	69935373	69935373	Human		name
152125743	CV1646230	single nucleotide variant	NM_001368882.1(COL13A1):c.1896C>T (p.Asp632=)	not provided [RCV002217378]	likely benign	10	69941005	69941005	Human		name
152056301	CV1656380	single nucleotide variant	NM_001368882.1(COL13A1):c.1134G>C (p.Leu378=)	not provided [RCV002109586]	likely benign	10	69921926	69921926	Human		name
152073734	CV1657635	single nucleotide variant	NM_001368882.1(COL13A1):c.1407G>C (p.Arg469=)	not provided [RCV002210317]	likely benign	10	69927095	69927095	Human		name
152140139	CV1660795	single nucleotide variant	NM_001368882.1(COL13A1):c.1434T>C (p.Gly478=)	not provided [RCV002120249]	likely benign	10	69928948	69928948	Human		name
152068755	CV1662381	single nucleotide variant	NM_001368882.1(COL13A1):c.289G>T (p.Asp97Tyr)	Inborn genetic diseases [RCV003007085]\|not provided [RCV002111161]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	69802712	69802712	Human	1	name
156416485	CV1905245	single nucleotide variant	NM_001368882.1(COL13A1):c.1683G>A (p.Pro561=)	not provided [RCV002610200]	uncertain significance	10	69930552	69930552	Human		name
156404988	CV1916821	single nucleotide variant	NM_001368882.1(COL13A1):c.238G>C (p.Gly80Arg)	Inborn genetic diseases [RCV003358103]\|not provided [RCV002606226]	uncertain significance	10	69802661	69802661	Human	1	name
156172924	CV1968432	single nucleotide variant	NM_001368882.1(COL13A1):c.1101G>A (p.Gly367=)	not provided [RCV002594826]	likely benign	10	69921893	69921893	Human		name
156260767	CV2000561	single nucleotide variant	NM_001368882.1(COL13A1):c.1440T>C (p.Pro480=)	not provided [RCV002627757]	likely benign	10	69928954	69928954	Human		name
156300480	CV2017292	single nucleotide variant	NM_001368882.1(COL13A1):c.2061G>A (p.Gly687=)	not provided [RCV002716035]	likely benign	10	69952884	69952884	Human		name
156271159	CV2018253	single nucleotide variant	NM_001368882.1(COL13A1):c.2055C>T (p.Asn685=)	not provided [RCV002714985]	likely benign	10	69947339	69947339	Human		name
156376590	CV2024779	single nucleotide variant	NM_001368882.1(COL13A1):c.2037A>G (p.Pro679=)	not provided [RCV002721975]	likely benign	10	69947321	69947321	Human		name
155945945	CV2035850	single nucleotide variant	NM_001368882.1(COL13A1):c.2073G>A (p.Lys691=)	not provided [RCV002775479]	likely benign	10	69952896	69952896	Human		name
156062089	CV2044907	single nucleotide variant	NM_001368882.1(COL13A1):c.181G>T (p.Ala61Ser)	not provided [RCV002736871]	uncertain significance	10	69802604	69802604	Human		name
156277483	CV2046488	single nucleotide variant	NM_001368882.1(COL13A1):c.1914G>A (p.Pro638=)	not provided [RCV002770265]	uncertain significance	10	69941023	69941023	Human		name
155904732	CV2048013	single nucleotide variant	NM_001368882.1(COL13A1):c.1182C>G (p.Gly394=)	not provided [RCV002771196]	likely benign	10	69922746	69922746	Human		name
156125700	CV2124886	single nucleotide variant	NM_001368882.1(COL13A1):c.2175C>T (p.Cys725=)	not provided [RCV002953676]	likely benign	10	69957033	69957033	Human		name
156014093	CV2133928	single nucleotide variant	NM_001368882.1(COL13A1):c.166G>A (p.Ala56Thr)	not provided [RCV003017900]	uncertain significance	10	69802589	69802589	Human		name
155963727	CV2142401	single nucleotide variant	NM_001368882.1(COL13A1):c.1620C>T (p.Asn540=)	not provided [RCV002995280]	likely benign	10	69930489	69930489	Human		name
155945522	CV2154720	single nucleotide variant	NM_001368882.1(COL13A1):c.1737G>A (p.Gly579=)	not provided [RCV003014536]	likely benign	10	69935358	69935358	Human		name
155994529	CV2156177	single nucleotide variant	NM_001368882.1(COL13A1):c.257C>G (p.Thr86Arg)	Inborn genetic diseases [RCV002996724]\|not provided [RCV003018541]	uncertain significance	10	69802680	69802680	Human	1	name
155987281	CV2159815	single nucleotide variant	NM_001368882.1(COL13A1):c.113G>C (p.Arg38Pro)	Inborn genetic diseases [RCV003029463]\|not provided [RCV003034158]	uncertain significance	10	69802536	69802536	Human	1	name
155996485	CV2171622	single nucleotide variant	NM_001368882.1(COL13A1):c.230C>T (p.Ala77Val)	not provided [RCV003034568]	uncertain significance	10	69802653	69802653	Human		name
156201511	CV2182880	single nucleotide variant	NM_001368882.1(COL13A1):c.116T>G (p.Leu39Arg)	not provided [RCV003024469]	uncertain significance	10	69802539	69802539	Human		name
156286523	CV2192051	single nucleotide variant	NM_001368882.1(COL13A1):c.1638A>C (p.Pro546=)	not provided [RCV003044966]	likely benign	10	69930507	69930507	Human		name
156204655	CV2401438	deletion	NM_001368882.1(COL13A1):c.803del (p.Pro268fs)	Congenital myasthenic syndrome 19 [RCV002789987]	likely pathogenic	10	69902795	69902795	Human	1	name
11633351	CV264432	deletion	NM_001368882.1(COL13A1):c.648del (p.Gly217fs)	Congenital myasthenic syndrome 19 [RCV003492024]\|not provided [RCV000331517]	pathogenic	10	69894688	69894688	Human	1	name
11581349	CV264464	single nucleotide variant	NM_001368882.1(COL13A1):c.271C>T (p.Arg91Ter)	not provided [RCV000366402]	pathogenic	10	69802694	69802694	Human		name
405196673	CV2922104	single nucleotide variant	NM_001368882.1(COL13A1):c.1989G>A (p.Gly663=)	not provided [RCV003565335]	likely benign	10	69945691	69945691	Human		name
405121297	CV2952455	single nucleotide variant	NM_001368882.1(COL13A1):c.2154T>C (p.Asp718=)	not provided [RCV003671501]	likely benign	10	69957012	69957012	Human		name
405117117	CV2953431	single nucleotide variant	NM_001368882.1(COL13A1):c.1023C>A (p.Thr341=)	not provided [RCV003667040]	likely benign	10	69919085	69919085	Human		name
405239088	CV2996967	single nucleotide variant	NM_001368882.1(COL13A1):c.1776C>G (p.Leu592=)	not provided [RCV003718785]	likely benign	10	69936761	69936761	Human		name
405066262	CV3030824	single nucleotide variant	NM_001368882.1(COL13A1):c.1470G>A (p.Gly490=)	not provided [RCV003698043]	likely benign	10	69928984	69928984	Human		name
405138093	CV3048674	single nucleotide variant	NM_001368882.1(COL13A1):c.1800G>A (p.Gly600=)	not provided [RCV003725408]	likely benign	10	69937637	69937637	Human		name
405174381	CV3052601	single nucleotide variant	NM_001368882.1(COL13A1):c.2031T>C (p.His677=)	not provided [RCV003728211]	likely benign	10	69947315	69947315	Human		name
405221273	CV3060167	single nucleotide variant	NM_001368882.1(COL13A1):c.1761C>T (p.Pro587=)	not provided [RCV003733349]	likely benign	10	69935382	69935382	Human		name
405102346	CV3119127	single nucleotide variant	NM_001368882.1(COL13A1):c.1254G>A (p.Gln418=)	not provided [RCV003811578]	likely benign	10	69923825	69923825	Human		name
405205889	CV3126687	single nucleotide variant	NM_001368882.1(COL13A1):c.1404C>T (p.Ile468=)	not provided [RCV003822621]	likely benign	10	69927092	69927092	Human		name
405194575	CV3128598	single nucleotide variant	NM_001368882.1(COL13A1):c.1755G>A (p.Gly585=)	not provided [RCV003821335]	likely benign	10	69935376	69935376	Human		name
405136359	CV3130620	single nucleotide variant	NM_001368882.1(COL13A1):c.1287G>A (p.Gly429=)	not provided [RCV003838853]	likely benign	10	69924965	69924965	Human		name
405158297	CV3152648	single nucleotide variant	NM_001368882.1(COL13A1):c.1146A>T (p.Gly382=)	not provided [RCV003840575]	likely benign	10	69922710	69922710	Human		name
405182014	CV3159577	single nucleotide variant	NM_001368882.1(COL13A1):c.2061G>C (p.Gly687=)	not provided [RCV003858828]	likely benign	10	69952884	69952884	Human		name
405130739	CV3163650	single nucleotide variant	NM_001368882.1(COL13A1):c.1221A>G (p.Pro407=)	not provided [RCV003854638]	likely benign	10	69922785	69922785	Human		name
405194842	CV3167699	single nucleotide variant	NM_001368882.1(COL13A1):c.1764A>G (p.Gly588=)	not provided [RCV003860105]	likely benign	10	69935385	69935385	Human		name
405271638	CV3219027	single nucleotide variant	NM_001368882.1(COL13A1):c.1221A>C (p.Pro407=)	COL13A1-related disorder [RCV003971751]	likely benign	10	69922785	69922785	Human		name , trait , alternate_id
405686746	CV3306984	single nucleotide variant	NM_001368882.1(COL13A1):c.252G>A (p.Met84Ile)	Inborn genetic diseases [RCV004444534]	uncertain significance	10	69802675	69802675	Human	1	name
407451072	CV3426023	single nucleotide variant	NM_001368882.1(COL13A1):c.238G>T (p.Gly80Trp)	Inborn genetic diseases [RCV004607926]	uncertain significance	10	69802661	69802661	Human	1	name
597648376	CV3660655	single nucleotide variant	NM_001368882.1(COL13A1):c.256A>G (p.Thr86Ala)	Inborn genetic diseases [RCV004974221]	uncertain significance	10	69802679	69802679	Human	1	name
597876097	CV3747762	single nucleotide variant	NM_001368882.1(COL13A1):c.2115A>G (p.Gly705=)	not provided [RCV005069253]	likely benign	10	69952938	69952938	Human		name
597955850	CV3754489	single nucleotide variant	NM_001368882.1(COL13A1):c.1023C>T (p.Thr341=)	not provided [RCV005080339]	likely benign	10	69919085	69919085	Human		name
597855891	CV3758726	single nucleotide variant	NM_001368882.1(COL13A1):c.1830G>A (p.Glu610=)	not provided [RCV005088686]	likely benign	10	69937667	69937667	Human		name
597947231	CV3800629	single nucleotide variant	NM_001368882.1(COL13A1):c.2004G>A (p.Thr668=)	not provided [RCV005135029]	likely benign	10	69945706	69945706	Human		name
597842381	CV3822076	single nucleotide variant	NM_001368882.1(COL13A1):c.1632G>A (p.Gly544=)	not provided [RCV005172390]	likely benign	10	69930501	69930501	Human		name
597929049	CV3837379	single nucleotide variant	NM_001368882.1(COL13A1):c.1188G>A (p.Gly396=)	not provided [RCV005185537]	likely benign	10	69922752	69922752	Human		name
597919308	CV3842483	single nucleotide variant	NM_001368882.1(COL13A1):c.1836C>T (p.Gly612=)	not provided [RCV005183968]	likely benign	10	69937673	69937673	Human		name
598216634	CV3952211	single nucleotide variant	NM_001368882.1(COL13A1):c.291C>A (p.Asp97Glu)	Inborn genetic diseases [RCV005316951]	uncertain significance	10	69802714	69802714	Human	1	name
616933126	CV4012678	deletion	NM_001368882.1(COL13A1):c.512del (p.Pro171fs)	Congenital myasthenic syndrome 19 [RCV005410138]	likely pathogenic	10	69880547	69880547	Human	1	name
13704761	CV539029	single nucleotide variant	NM_001368882.1(COL13A1):c.2040C>T (p.Pro680=)	Congenital myasthenic syndrome 19 [RCV000661939]	uncertain significance	10	69947324	69947324	Human	1	name
15190365	CV701419	single nucleotide variant	NM_001368882.1(COL13A1):c.1596A>T (p.Gly532=)	COL13A1-related disorder [RCV003960654]\|not provided [RCV000954452]	benign\|likely benign	10	69930465	69930465	Human	1	name , trait , alternate_id
15138528	CV712442	single nucleotide variant	NM_001368882.1(COL13A1):c.236G>T (p.Arg79Leu)	COL13A1-related disorder [RCV003905901]\|not provided [RCV000965807]	benign\|conflicting interpretations of pathogenicity	10	69802659	69802659	Human	1	name , trait , alternate_id
15181975	CV712445	single nucleotide variant	NM_001368882.1(COL13A1):c.1581C>A (p.Pro527=)	not provided [RCV000974521]	likely benign	10	69930450	69930450	Human		name
15165268	CV724036	single nucleotide variant	NM_001368882.1(COL13A1):c.1770G>A (p.Pro590=)	not provided [RCV000882375]	benign	10	69935391	69935391	Human		name
15154474	CV724037	single nucleotide variant	NM_001368882.1(COL13A1):c.1944C>T (p.Gly648=)	not provided [RCV000880223]	likely benign	10	69944154	69944154	Human		name
15153938	CV724038	single nucleotide variant	NM_001368882.1(COL13A1):c.2118G>A (p.Ala706=)	COL13A1-related disorder [RCV003908402]\|not provided [RCV000880113]	likely benign	10	69952941	69952941	Human	1	name , trait , alternate_id
15101613	CV752208	single nucleotide variant	NM_001368882.1(COL13A1):c.1521T>C (p.Asp507=)	not provided [RCV000914816]	likely benign	10	69930078	69930078	Human		name
15196277	CV752209	single nucleotide variant	NM_001368882.1(COL13A1):c.1860T>G (p.Arg620=)	not provided [RCV000911651]	likely benign	10	69937697	69937697	Human		name
15148467	CV752210	single nucleotide variant	NM_001368882.1(COL13A1):c.1950G>A (p.Ala650=)	not provided [RCV000923102]	likely benign	10	69944160	69944160	Human		name
15172041	CV767879	single nucleotide variant	NM_001368882.1(COL13A1):c.1539C>T (p.Arg513=)	not provided [RCV000928029]	likely benign	10	69930408	69930408	Human		name
38597435	CV965278	deletion	NM_001368882.1(COL13A1):c.513del (p.Gly172fs)	Congenital myasthenic syndrome 19 [RCV001254694]	pathogenic\|likely pathogenic	10	69880553	69880553	Human	1	name
126728510	CV1017305	single nucleotide variant	NM_001368882.1(COL13A1):c.567C>A (p.Asp189Glu)	Congenital myasthenic syndrome 19 [RCV001332872]\|Inborn genetic diseases [RCV002546603]\|not provided [RCV001865769]	uncertain significance	10	69888321	69888321	Human	2	name
150333727	CV1174910	single nucleotide variant	NM_001368882.1(COL13A1):c.675C>G (p.Tyr225Ter)	Congenital myasthenic syndrome 19 [RCV001543595]	pathogenic	10	69895567	69895567	Human	1	name
150333729	CV1174911	deletion	NM_001368882.1(COL13A1):c.1619del (p.Asn540fs)	Congenital myasthenic syndrome 19 [RCV001543596]	pathogenic	10	69930485	69930485	Human	1	name
150549077	CV1294942	single nucleotide variant	NM_001368882.1(COL13A1):c.641G>A (p.Gly214Glu)	not provided [RCV001764903]	uncertain significance	10	69894685	69894685	Human		name
150536937	CV1314376	single nucleotide variant	NM_001368882.1(COL13A1):c.709C>T (p.Arg237Ter)	Congenital myasthenic syndrome 19 [RCV001780804]\|not provided [RCV002541181]	pathogenic\|likely pathogenic	10	69898721	69898721	Human	1	name
151859920	CV1344071	single nucleotide variant	NM_001368882.1(COL13A1):c.916C>T (p.Arg306Trp)	not provided [RCV002034237]	uncertain significance	10	69905817	69905817	Human		name
151890966	CV1344403	single nucleotide variant	NM_001368882.1(COL13A1):c.985G>A (p.Val329Met)	not provided [RCV001943195]	uncertain significance	10	69918303	69918303	Human		name
151840326	CV1345853	single nucleotide variant	NM_001368882.1(COL13A1):c.739C>T (p.Arg247Trp)	not provided [RCV001902759]	uncertain significance	10	69898751	69898751	Human		name
151783062	CV1350135	single nucleotide variant	NM_001368882.1(COL13A1):c.305T>G (p.Leu102Arg)	not provided [RCV001989311]	uncertain significance	10	69822379	69822379	Human		name
151824045	CV1350783	single nucleotide variant	NM_001368882.1(COL13A1):c.988G>A (p.Ala330Thr)	not provided [RCV001919853]	uncertain significance	10	69918306	69918306	Human		name
151831391	CV1354379	single nucleotide variant	NM_001368882.1(COL13A1):c.856C>T (p.Pro286Ser)	not provided [RCV001880344]	uncertain significance	10	69902853	69902853	Human		name
151832582	CV1356165	single nucleotide variant	NM_001368882.1(COL13A1):c.328G>A (p.Ala110Thr)	not provided [RCV002030951]	uncertain significance	10	69822402	69822402	Human		name
151842874	CV1357791	single nucleotide variant	NM_001368882.1(COL13A1):c.629C>T (p.Pro210Leu)	not provided [RCV001881572]	uncertain significance	10	69894577	69894577	Human		name
151804639	CV1362952	single nucleotide variant	NM_001368882.1(COL13A1):c.845C>T (p.Pro282Leu)	Inborn genetic diseases [RCV004970737]\|not provided [RCV002028411]	uncertain significance	10	69902842	69902842	Human	1	name
151820953	CV1365394	duplication	NM_001368882.1(COL13A1):c.1097dup (p.Ala368fs)	not provided [RCV001879209]	pathogenic	10	69921887	69921888	Human		name
151769075	CV1367614	single nucleotide variant	NM_001368882.1(COL13A1):c.665G>A (p.Cys222Tyr)	not provided [RCV001863900]	uncertain significance	10	69895557	69895557	Human		name
151732766	CV1378557	single nucleotide variant	NM_001368882.1(COL13A1):c.529A>G (p.Arg177Gly)	not provided [RCV002041377]	uncertain significance	10	69887471	69887471	Human		name
151865625	CV1381122	single nucleotide variant	NM_001368882.1(COL13A1):c.434T>C (p.Val145Ala)	not provided [RCV002018301]	uncertain significance	10	69875162	69875162	Human		name
151880961	CV1384766	deletion	NM_001368882.1(COL13A1):c.55_62del (p.Glu19fs)	not provided [RCV001982537]	pathogenic	10	69802474	69802481	Human		name
151834437	CV1384941	single nucleotide variant	NM_001368882.1(COL13A1):c.676C>T (p.Pro226Ser)	not provided [RCV001956005]	uncertain significance	10	69895568	69895568	Human		name
151747113	CV1398482	single nucleotide variant	NM_001368882.1(COL13A1):c.829C>T (p.Pro277Ser)	Inborn genetic diseases [RCV005321079]\|not provided [RCV002042855]	uncertain significance	10	69902826	69902826	Human	1	name
151859212	CV1403665	single nucleotide variant	NM_001368882.1(COL13A1):c.503G>A (p.Arg168His)	not provided [RCV001996913]	uncertain significance	10	69880543	69880543	Human		name
151823054	CV1415215	single nucleotide variant	NM_001368882.1(COL13A1):c.298T>A (p.Trp100Arg)	not provided [RCV001954955]	uncertain significance	10	69822372	69822372	Human		name
151878628	CV1416225	single nucleotide variant	NM_001368882.1(COL13A1):c.826C>G (p.His276Asp)	Inborn genetic diseases [RCV004612002]\|not provided [RCV001926146]	uncertain significance	10	69902823	69902823	Human	1	name
151720214	CV1420785	single nucleotide variant	NM_001368882.1(COL13A1):c.971C>T (p.Ala324Val)	not provided [RCV002039964]	uncertain significance	10	69918289	69918289	Human		name
151774282	CV1424131	single nucleotide variant	NM_001368882.1(COL13A1):c.996G>A (p.Met332Ile)	Inborn genetic diseases [RCV004046087]\|not provided [RCV002025661]	uncertain significance	10	69918314	69918314	Human	1	name
151867509	CV1435931	single nucleotide variant	NM_001368882.1(COL13A1):c.928C>T (p.Arg310Trp)	Inborn genetic diseases [RCV004970656]\|not provided [RCV001997916]	uncertain significance	10	69917295	69917295	Human	1	name
151817682	CV1435972	single nucleotide variant	NM_001368882.1(COL13A1):c.961G>A (p.Ala321Thr)	not provided [RCV001975418]	uncertain significance	10	69917328	69917328	Human		name
151793627	CV1447248	single nucleotide variant	NM_001368882.1(COL13A1):c.467C>T (p.Ser156Phe)	not provided [RCV001876741]	uncertain significance	10	69880507	69880507	Human		name
151860424	CV1452261	single nucleotide variant	NM_001368882.1(COL13A1):c.710G>A (p.Arg237Gln)	Inborn genetic diseases [RCV002548132]\|not provided [RCV002017687]	uncertain significance	10	69898722	69898722	Human	1	name
151853910	CV1453371	single nucleotide variant	NM_001368882.1(COL13A1):c.611C>T (p.Thr204Met)	Inborn genetic diseases [RCV004968410]\|not provided [RCV001883095]	uncertain significance	10	69894559	69894559	Human	1	name
151746855	CV1455866	single nucleotide variant	NM_001368882.1(COL13A1):c.672G>C (p.Glu224Asp)	not provided [RCV002022924]	uncertain significance	10	69895564	69895564	Human		name
151738514	CV1469569	single nucleotide variant	NM_001368882.1(COL13A1):c.929G>A (p.Arg310Gln)	not provided [RCV002041990]	uncertain significance	10	69917296	69917296	Human		name
151887294	CV1471937	single nucleotide variant	NM_001368882.1(COL13A1):c.598G>A (p.Asp200Asn)	Inborn genetic diseases [RCV004976078]\|not provided [RCV002000854]	uncertain significance	10	69889435	69889435	Human	1	name
151873663	CV1488070	single nucleotide variant	NM_001368882.1(COL13A1):c.416T>C (p.Ile139Thr)	not provided [RCV001981624]	uncertain significance	10	69875144	69875144	Human		name
151719670	CV1491363	single nucleotide variant	NM_001368882.1(COL13A1):c.917G>A (p.Arg306Gln)	not provided [RCV002003469]	uncertain significance	10	69905818	69905818	Human		name
151779303	CV1493502	single nucleotide variant	NM_001368882.1(COL13A1):c.644A>G (p.Gln215Arg)	Inborn genetic diseases [RCV005320950]\|not provided [RCV001915731]	uncertain significance	10	69894688	69894688	Human	1	name
151765828	CV1495891	single nucleotide variant	NM_001368882.1(COL13A1):c.775C>G (p.Gln259Glu)	not provided [RCV001863592]	uncertain significance	10	69902772	69902772	Human		name
151759691	CV1500836	single nucleotide variant	NM_001368882.1(COL13A1):c.496G>T (p.Gly166Cys)	not provided [RCV001987119]	uncertain significance	10	69880536	69880536	Human		name
151784505	CV1508598	single nucleotide variant	NM_001368882.1(COL13A1):c.323G>A (p.Arg108Gln)	not provided [RCV002010046]	uncertain significance	10	69822397	69822397	Human		name
151765418	CV1517201	single nucleotide variant	NM_001368882.1(COL13A1):c.493A>G (p.Ile165Val)	not provided [RCV002024839]	uncertain significance	10	69880533	69880533	Human		name
155722824	CV1773550	single nucleotide variant	NM_001368882.1(COL13A1):c.512C>T (p.Pro171Leu)	not provided [RCV002301358]	uncertain significance	10	69880552	69880552	Human		name
156220811	CV1879253	single nucleotide variant	NM_001368882.1(COL13A1):c.478G>T (p.Ala160Ser)	not provided [RCV003058928]	uncertain significance	10	69880518	69880518	Human		name
156259696	CV1906457	single nucleotide variant	NM_001368882.1(COL13A1):c.362C>G (p.Pro121Arg)	not provided [RCV003086395]	uncertain significance	10	69822436	69822436	Human		name
156376155	CV1917636	single nucleotide variant	NM_001368882.1(COL13A1):c.320G>A (p.Arg107His)	not provided [RCV002603599]	uncertain significance	10	69822394	69822394	Human		name
156276553	CV1954719	single nucleotide variant	NM_001368882.1(COL13A1):c.317G>A (p.Arg106Lys)	COL13A1-related disorder [RCV003971320]\|not provided [RCV002577344]	uncertain significance	10	69822391	69822391	Human	1	name , trait , alternate_id
156220984	CV1960211	single nucleotide variant	NM_001368882.1(COL13A1):c.467C>A (p.Ser156Tyr)	not provided [RCV002575526]	uncertain significance	10	69880507	69880507	Human		name
156063243	CV1975255	single nucleotide variant	NM_001368882.1(COL13A1):c.505G>A (p.Gly169Ser)	not provided [RCV002591046]	uncertain significance	10	69880545	69880545	Human		name
156213187	CV1983533	single nucleotide variant	NM_001368882.1(COL13A1):c.913G>A (p.Gly305Ser)	not provided [RCV002626155]	uncertain significance	10	69905814	69905814	Human		name
155943719	CV2002908	single nucleotide variant	NM_001368882.1(COL13A1):c.511C>G (p.Pro171Ala)	not provided [RCV002685624]	uncertain significance	10	69880551	69880551	Human		name
156356399	CV2020030	single nucleotide variant	NM_001368882.1(COL13A1):c.553C>T (p.Pro185Ser)	not provided [RCV002720564]	uncertain significance	10	69888307	69888307	Human		name
155988071	CV2026748	single nucleotide variant	NM_001368882.1(COL13A1):c.813T>G (p.Ser271Arg)	not provided [RCV002755628]	uncertain significance	10	69902810	69902810	Human		name
155916365	CV2029745	single nucleotide variant	NM_001368882.1(COL13A1):c.740G>A (p.Arg247Gln)	Congenital myasthenic syndrome 19 [RCV003492777]\|not provided [RCV002750487]	uncertain significance	10	69898752	69898752	Human	1	name
156125930	CV2031182	single nucleotide variant	NM_001368882.1(COL13A1):c.575C>T (p.Pro192Leu)	not provided [RCV002740381]	uncertain significance	10	69888329	69888329	Human		name
155982774	CV2140606	single nucleotide variant	NM_001368882.1(COL13A1):c.514G>A (p.Gly172Ser)	not provided [RCV002996185]	uncertain significance	10	69887456	69887456	Human		name
156314463	CV2143979	single nucleotide variant	NM_001368882.1(COL13A1):c.472G>A (p.Gly158Arg)	not provided [RCV003011302]	uncertain significance	10	69880512	69880512	Human		name
156094467	CV2152016	single nucleotide variant	NM_001368882.1(COL13A1):c.364G>C (p.Gly122Arg)	not provided [RCV003020808]	uncertain significance	10	69822438	69822438	Human		name
10450211	CV215673	deletion	NM_001368882.1(COL13A1):c.1206del (p.Leu403fs)	Congenital myasthenic syndrome 19 [RCV000203254]	pathogenic	10	69922768	69922768	Human	1	name
156101094	CV2180065	single nucleotide variant	NM_001368882.1(COL13A1):c.716C>T (p.Ala239Val)	not provided [RCV003054730]	uncertain significance	10	69898728	69898728	Human		name
156338463	CV2188232	single nucleotide variant	NM_001368882.1(COL13A1):c.403G>C (p.Asp135His)	not provided [RCV003064101]	uncertain significance	10	69875131	69875131	Human		name
156250278	CV2232153	single nucleotide variant	NM_001368882.1(COL13A1):c.985G>T (p.Val329Leu)	Inborn genetic diseases [RCV002713933]	uncertain significance	10	69918303	69918303	Human	1	name
156070190	CV2267149	single nucleotide variant	NM_001368882.1(COL13A1):c.724C>G (p.Pro242Ala)	Inborn genetic diseases [RCV002823404]\|not provided [RCV003561105]	uncertain significance	10	69898736	69898736	Human	1	name
156080887	CV2301038	single nucleotide variant	NM_001368882.1(COL13A1):c.910C>A (p.His304Asn)	Inborn genetic diseases [RCV002887435]	uncertain significance	10	69905811	69905811	Human	1	name
155977457	CV2321142	single nucleotide variant	NM_001368882.1(COL13A1):c.387A>C (p.Arg129Ser)	Inborn genetic diseases [RCV002907475]	uncertain significance	10	69872198	69872198	Human	1	name
156227983	CV2392849	single nucleotide variant	NM_001368882.1(COL13A1):c.502C>T (p.Arg168Cys)	Inborn genetic diseases [RCV002805171]	uncertain significance	10	69880542	69880542	Human	1	name
329356598	CV2460433	single nucleotide variant	NM_001368882.1(COL13A1):c.697C>G (p.Leu233Val)	Inborn genetic diseases [RCV003203362]	uncertain significance	10	69898709	69898709	Human	1	name
401732242	CV2698259	single nucleotide variant	NM_001368882.1(COL13A1):c.803C>G (p.Pro268Arg)	Inborn genetic diseases [RCV003290125]	uncertain significance	10	69902800	69902800	Human	1	name
401948292	CV2832468	single nucleotide variant	NM_001368882.1(COL13A1):c.457G>T (p.Glu153Ter)	Congenital myasthenic syndrome 19 [RCV003447874]	likely pathogenic	10	69878060	69878060	Human	1	name
404998026	CV2849857	single nucleotide variant	NM_001368882.1(COL13A1):c.799C>G (p.Pro267Ala)	Congenital myasthenic syndrome 19 [RCV003492976]	uncertain significance	10	69902796	69902796	Human	1	name
405200472	CV2918484	deletion	NM_001368882.1(COL13A1):c.685-1210_685-1204del	not provided [RCV003565892]	pathogenic	10	69897485	69897491	Human		name
405686753	CV3306985	single nucleotide variant	NM_001368882.1(COL13A1):c.422T>A (p.Met141Lys)	Inborn genetic diseases [RCV004444535]	uncertain significance	10	69875150	69875150	Human	1	name
405686760	CV3306987	single nucleotide variant	NM_001368882.1(COL13A1):c.671A>G (p.Glu224Gly)	Inborn genetic diseases [RCV004444537]	uncertain significance	10	69895563	69895563	Human	1	name
405686766	CV3306988	single nucleotide variant	NM_001368882.1(COL13A1):c.682C>T (p.Arg228Trp)	Inborn genetic diseases [RCV004444538]	uncertain significance	10	69895574	69895574	Human	1	name
405686776	CV3306990	single nucleotide variant	NM_001368882.1(COL13A1):c.898A>G (p.Ile300Val)	Inborn genetic diseases [RCV004444540]	uncertain significance	10	69905799	69905799	Human	1	name
597632026	CV3660643	single nucleotide variant	NM_001368882.1(COL13A1):c.494T>C (p.Ile165Thr)	Inborn genetic diseases [RCV004967920]	uncertain significance	10	69880534	69880534	Human	1	name
597632029	CV3660644	single nucleotide variant	NM_001368882.1(COL13A1):c.310T>A (p.Ser104Thr)	Inborn genetic diseases [RCV004967921]	uncertain significance	10	69822384	69822384	Human	1	name
597648330	CV3660645	single nucleotide variant	NM_001368882.1(COL13A1):c.428G>T (p.Gly143Val)	Inborn genetic diseases [RCV004974213]	uncertain significance	10	69875156	69875156	Human	1	name
597648335	CV3660646	single nucleotide variant	NM_001368882.1(COL13A1):c.976G>A (p.Gly326Arg)	Inborn genetic diseases [RCV004974214]	uncertain significance	10	69918294	69918294	Human	1	name
597648346	CV3660650	single nucleotide variant	NM_001368882.1(COL13A1):c.599A>G (p.Asp200Gly)	Inborn genetic diseases [RCV004974216]	uncertain significance	10	69889436	69889436	Human	1	name
597648358	CV3660652	single nucleotide variant	NM_001368882.1(COL13A1):c.572A>C (p.Lys191Thr)	Inborn genetic diseases [RCV004974218]	uncertain significance	10	69888326	69888326	Human	1	name
597648364	CV3660653	single nucleotide variant	NM_001368882.1(COL13A1):c.790C>G (p.Pro264Ala)	Inborn genetic diseases [RCV004974219]	uncertain significance	10	69902787	69902787	Human	1	name
597648380	CV3660656	single nucleotide variant	NM_001368882.1(COL13A1):c.571A>C (p.Lys191Gln)	Inborn genetic diseases [RCV004974222]	uncertain significance	10	69888325	69888325	Human	1	name
597908441	CV3739000	single nucleotide variant	NM_001368882.1(COL13A1):c.508C>T (p.Pro170Ser)	not provided [RCV005073235]	uncertain significance	10	69880548	69880548	Human		name
597953424	CV3808848	single nucleotide variant	NM_001368882.1(COL13A1):c.370C>T (p.Pro124Ser)	not provided [RCV005161766]	uncertain significance	10	69867803	69867803	Human		name
598216643	CV3952213	single nucleotide variant	NM_001368882.1(COL13A1):c.724C>T (p.Pro242Ser)	Inborn genetic diseases [RCV005316953]	uncertain significance	10	69898736	69898736	Human	1	name
12894538	CV407890	duplication	NM_001368882.1(COL13A1):c.1503dup (p.Gly502fs)	not provided [RCV000483211]	pathogenic	10	69930059	69930060	Human		name
15201447	CV701418	single nucleotide variant	NM_001368882.1(COL13A1):c.478G>A (p.Ala160Thr)	COL13A1-related disorder [RCV003978313]\|not provided [RCV000957625]	benign	10	69880518	69880518	Human	1	name , trait , alternate_id
15129787	CV712443	single nucleotide variant	NM_001368882.1(COL13A1):c.358C>T (p.Pro120Ser)	COL13A1-related disorder [RCV003983310]\|not provided [RCV000964317]	benign	10	69822432	69822432	Human	1	name , trait , alternate_id
15121691	CV712444	single nucleotide variant	NM_001368882.1(COL13A1):c.754G>A (p.Glu252Lys)	COL13A1-related disorder [RCV003916102]\|not provided [RCV000962940]	benign\|likely benign	10	69902751	69902751	Human	1	name , trait , alternate_id
15200050	CV724033	single nucleotide variant	NM_001368882.1(COL13A1):c.304C>T (p.Leu102Phe)	not provided [RCV000890805]\|not specified [RCV001818667]	benign	10	69822378	69822378	Human		name
15109297	CV752204	single nucleotide variant	NM_001368882.1(COL13A1):c.431G>A (p.Arg144His)	COL13A1-related disorder [RCV003923231]\|not provided [RCV000916308]	likely benign	10	69875159	69875159	Human	1	name , trait , alternate_id
126739162	CV1020748	single nucleotide variant	NM_001368882.1(COL13A1):c.1610A>G (p.Lys537Arg)	Congenital myasthenic syndrome 19 [RCV001335690]	uncertain significance	10	69930479	69930479	Human	1	name
126768478	CV1029701	single nucleotide variant	NM_001368882.1(COL13A1):c.1859G>A (p.Arg620His)	Congenital myasthenic syndrome 19 [RCV003145590]\|Inborn genetic diseases [RCV002546985]\|not provided [RCV001343383]\|not specified [RCV004782717]	uncertain significance	10	69937696	69937696	Human	2	name
150507267	CV1256890	single nucleotide variant	NM_001368882.1(COL13A1):c.1606G>A (p.Val536Met)	not provided [RCV001678393]	benign	10	69930475	69930475	Human		name
151842820	CV1339117	single nucleotide variant	NM_001368882.1(COL13A1):c.1237G>A (p.Ala413Thr)	not provided [RCV001977906]	uncertain significance	10	69923808	69923808	Human		name
151779925	CV1340345	single nucleotide variant	NM_001368882.1(COL13A1):c.1519G>A (p.Asp507Asn)	Inborn genetic diseases [RCV004042835]\|not provided [RCV001930339]	uncertain significance	10	69930076	69930076	Human	1	name
151867554	CV1348535	single nucleotide variant	NM_001368882.1(COL13A1):c.1912C>A (p.Pro638Thr)	not provided [RCV001924793]	uncertain significance	10	69941021	69941021	Human		name
151822881	CV1352113	single nucleotide variant	NM_001368882.1(COL13A1):c.1156G>A (p.Asp386Asn)	Inborn genetic diseases [RCV004046224]\|not provided [RCV002013565]	uncertain significance	10	69922720	69922720	Human	1	name
151763410	CV1384380	single nucleotide variant	NM_001368882.1(COL13A1):c.1676G>A (p.Gly559Asp)	Inborn genetic diseases [RCV005321015]\|not provided [RCV001987536]	uncertain significance	10	69930545	69930545	Human	1	name
151725898	CV1387088	single nucleotide variant	NM_001368882.1(COL13A1):c.1409C>T (p.Thr470Met)	not provided [RCV001910329]	uncertain significance	10	69927097	69927097	Human		name
151752351	CV1397977	single nucleotide variant	NM_001368882.1(COL13A1):c.2031T>G (p.His677Gln)	not provided [RCV001969317]	uncertain significance	10	69947315	69947315	Human		name
151789357	CV1399623	single nucleotide variant	NM_001368882.1(COL13A1):c.1025A>T (p.Lys342Met)	not provided [RCV001916663]	uncertain significance	10	69919087	69919087	Human		name
151880683	CV1405961	single nucleotide variant	NM_001368882.1(COL13A1):c.1526A>T (p.Glu509Val)	Inborn genetic diseases [RCV003167355]\|not provided [RCV001940982]	uncertain significance	10	69930083	69930083	Human	1	name
151869626	CV1412158	single nucleotide variant	NM_001368882.1(COL13A1):c.1762G>A (p.Gly588Arg)	Inborn genetic diseases [RCV002554214]\|not provided [RCV001884974]	uncertain significance	10	69935383	69935383	Human	1	name
151772857	CV1414279	single nucleotide variant	NM_001368882.1(COL13A1):c.1284G>C (p.Lys428Asn)	not provided [RCV001874621]	uncertain significance	10	69923855	69923855	Human		name
151736887	CV1422152	single nucleotide variant	NM_001368882.1(COL13A1):c.1192C>A (p.Pro398Thr)	Inborn genetic diseases [RCV004612022]\|not provided [RCV001984819]	uncertain significance	10	69922756	69922756	Human	1	name
151763505	CV1425663	single nucleotide variant	NM_001368882.1(COL13A1):c.1590G>T (p.Lys530Asn)	not provided [RCV001928797]	uncertain significance	10	69930459	69930459	Human		name
151748267	CV1430148	single nucleotide variant	NM_001368882.1(COL13A1):c.1555A>T (p.Met519Leu)	not provided [RCV002006572]	uncertain significance	10	69930424	69930424	Human		name
151747403	CV1432354	single nucleotide variant	NM_001368882.1(COL13A1):c.2144T>A (p.Leu715Ter)	not provided [RCV001985895]	uncertain significance	10	69952967	69952967	Human		name
151739502	CV1437616	single nucleotide variant	NM_001368882.1(COL13A1):c.1682C>T (p.Pro561Leu)	not provided [RCV001870880]	uncertain significance	10	69930551	69930551	Human		name
151832961	CV1439272	single nucleotide variant	NM_001368882.1(COL13A1):c.1583C>T (p.Pro528Leu)	not provided [RCV001976828]	uncertain significance	10	69930452	69930452	Human		name
151775589	CV1440217	single nucleotide variant	NM_001368882.1(COL13A1):c.1748C>T (p.Pro583Leu)	not provided [RCV001874869]	uncertain significance	10	69935369	69935369	Human		name
151882528	CV1443233	single nucleotide variant	NM_001368882.1(COL13A1):c.1385A>G (p.Asn462Ser)	not provided [RCV002037157]	uncertain significance	10	69925859	69925859	Human		name
151807202	CV1450038	single nucleotide variant	NM_001368882.1(COL13A1):c.1879G>A (p.Gly627Arg)	Inborn genetic diseases [RCV002551125]\|not provided [RCV001899607]	uncertain significance	10	69940988	69940988	Human	1	name
151770833	CV1451492	single nucleotide variant	NM_001368882.1(COL13A1):c.1612G>A (p.Gly538Arg)	not provided [RCV001988219]	uncertain significance	10	69930481	69930481	Human		name
151755158	CV1453931	single nucleotide variant	NM_001368882.1(COL13A1):c.1756C>T (p.Pro586Ser)	Congenital myasthenic syndrome 19 [RCV004762236]\|Inborn genetic diseases [RCV004975824]\|not provided [RCV001913379]	uncertain significance	10	69935377	69935377	Human	2	name
151803630	CV1462733	single nucleotide variant	NM_001368882.1(COL13A1):c.2140C>T (p.Pro714Ser)	not provided [RCV002028328]	uncertain significance	10	69952963	69952963	Human		name
151855490	CV1466479	single nucleotide variant	NM_001368882.1(COL13A1):c.2062G>C (p.Glu688Gln)	Inborn genetic diseases [RCV002552164]\|not provided [RCV001883286]	uncertain significance	10	69952885	69952885	Human	1	name
151742821	CV1478219	single nucleotide variant	NM_001368882.1(COL13A1):c.2044G>C (p.Asp682His)	not provided [RCV002005985]	uncertain significance	10	69947328	69947328	Human		name
151743230	CV1478276	single nucleotide variant	NM_001368882.1(COL13A1):c.1493T>C (p.Ile498Thr)	Inborn genetic diseases [RCV003289347]\|not provided [RCV002006024]	uncertain significance	10	69930050	69930050	Human	1	name
151727915	CV1495458	single nucleotide variant	NM_001368882.1(COL13A1):c.1216C>T (p.Pro406Ser)	not provided [RCV002040902]	uncertain significance	10	69922780	69922780	Human		name
151766387	CV1496173	single nucleotide variant	NM_001368882.1(COL13A1):c.2054A>G (p.Asn685Ser)	Inborn genetic diseases [RCV002545788]\|not provided [RCV001874013]	uncertain significance	10	69947338	69947338	Human	1	name
151752713	CV1508577	single nucleotide variant	NM_001368882.1(COL13A1):c.1702G>A (p.Gly568Arg)	not provided [RCV001986458]	uncertain significance	10	69932578	69932578	Human		name
151793324	CV1511256	single nucleotide variant	NM_001368882.1(COL13A1):c.1598C>T (p.Pro533Leu)	Inborn genetic diseases [RCV004044559]\|not provided [RCV001990278]	uncertain significance	10	69930467	69930467	Human	1	name
152053758	CV1651699	single nucleotide variant	NM_001368882.1(COL13A1):c.1246G>T (p.Asp416Tyr)	not provided [RCV002145994]	benign	10	69923817	69923817	Human		name
152160156	CV1655534	single nucleotide variant	NM_001368882.1(COL13A1):c.1931T>C (p.Ile644Thr)	COL13A1-related disorder [RCV004756377]\|Inborn genetic diseases [RCV003089020]\|not provided [RCV002203290]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	69944141	69944141	Human	2	name , trait , alternate_id
156087492	CV1899064	single nucleotide variant	NM_001368882.1(COL13A1):c.1292G>A (p.Arg431His)	not provided [RCV003080088]	uncertain significance	10	69924970	69924970	Human		name
156221731	CV1899839	single nucleotide variant	NM_001368882.1(COL13A1):c.1405C>G (p.Arg469Gly)	not provided [RCV003085024]	uncertain significance	10	69927093	69927093	Human		name
156311171	CV1899900	single nucleotide variant	NM_001368882.1(COL13A1):c.1472T>C (p.Ile491Thr)	not provided [RCV003088456]	uncertain significance	10	69928986	69928986	Human		name
156315469	CV1907320	single nucleotide variant	NM_001368882.1(COL13A1):c.1948G>A (p.Ala650Thr)	Inborn genetic diseases [RCV004073284]\|not provided [RCV003088695]	uncertain significance	10	69944158	69944158	Human	1	name
156435046	CV1940667	single nucleotide variant	NM_001368882.1(COL13A1):c.1538G>A (p.Arg513His)	not provided [RCV003104714]	uncertain significance	10	69930407	69930407	Human		name
156443785	CV1952092	single nucleotide variant	NM_001368882.1(COL13A1):c.2057G>A (p.Arg686Gln)	not provided [RCV003114165]	uncertain significance	10	69947341	69947341	Human		name
156408827	CV1954535	single nucleotide variant	NM_001368882.1(COL13A1):c.1247A>G (p.Asp416Gly)	not provided [RCV002586628]	uncertain significance	10	69923818	69923818	Human		name
156299417	CV1955485	single nucleotide variant	NM_001368882.1(COL13A1):c.1579C>T (p.Pro527Ser)	Inborn genetic diseases [RCV004064526]\|not provided [RCV002578160]	uncertain significance	10	69930448	69930448	Human	1	name
156299783	CV1955504	single nucleotide variant	NM_001368882.1(COL13A1):c.1001G>A (p.Gly334Asp)	not provided [RCV002578176]	uncertain significance	10	69919063	69919063	Human		name
156132983	CV1962794	single nucleotide variant	NM_001368882.1(COL13A1):c.1848A>C (p.Glu616Asp)	not provided [RCV002572298]	uncertain significance	10	69937685	69937685	Human		name
156393388	CV1965150	single nucleotide variant	NM_001368882.1(COL13A1):c.1540G>A (p.Gly514Ser)	not provided [RCV002584098]	uncertain significance	10	69930409	69930409	Human		name
156248707	CV1988338	single nucleotide variant	NM_001368882.1(COL13A1):c.1303G>A (p.Gly435Arg)	not provided [RCV002645824]	uncertain significance	10	69924981	69924981	Human		name
156105761	CV1992241	single nucleotide variant	NM_001368882.1(COL13A1):c.2039C>T (p.Pro680Leu)	not provided [RCV002622380]	uncertain significance	10	69947323	69947323	Human		name
156271185	CV2004127	single nucleotide variant	NM_001368882.1(COL13A1):c.2003C>T (p.Thr668Met)	Inborn genetic diseases [RCV005321203]\|not provided [RCV002646536]	uncertain significance	10	69945705	69945705	Human	1	name
156050148	CV2006694	single nucleotide variant	NM_001368882.1(COL13A1):c.1254G>T (p.Gln418His)	not provided [RCV002659338]	uncertain significance	10	69923825	69923825	Human		name
156121217	CV2013857	single nucleotide variant	NM_001368882.1(COL13A1):c.1882G>A (p.Ala628Thr)	not provided [RCV002740205]	uncertain significance	10	69940991	69940991	Human		name
155910925	CV2017680	single nucleotide variant	NM_001368882.1(COL13A1):c.2056C>T (p.Arg686Trp)	not provided [RCV002681710]	uncertain significance	10	69947340	69947340	Human		name
156286205	CV2039245	single nucleotide variant	NM_001368882.1(COL13A1):c.1739T>A (p.Leu580Gln)	Inborn genetic diseases [RCV004973617]\|not provided [RCV002770572]	uncertain significance	10	69935360	69935360	Human	1	name
156238595	CV2052982	single nucleotide variant	NM_001368882.1(COL13A1):c.1184G>A (p.Arg395Lys)	not provided [RCV002791266]	uncertain significance	10	69922748	69922748	Human		name
156301227	CV2146164	single nucleotide variant	NM_001368882.1(COL13A1):c.1868T>C (p.Leu623Pro)	not provided [RCV003010394]	uncertain significance	10	69937705	69937705	Human		name
156003200	CV2179235	single nucleotide variant	NM_001368882.1(COL13A1):c.1136G>C (p.Gly379Ala)	not provided [RCV003034870]	uncertain significance	10	69921928	69921928	Human		name
156165361	CV2184681	single nucleotide variant	NM_001368882.1(COL13A1):c.1853G>C (p.Gly618Ala)	not provided [RCV003057052]	uncertain significance	10	69937690	69937690	Human		name
155976102	CV2235988	single nucleotide variant	NM_001368882.1(COL13A1):c.1577G>T (p.Gly526Val)	Inborn genetic diseases [RCV002777286]	uncertain significance	10	69930446	69930446	Human	1	name
156295844	CV2239796	single nucleotide variant	NM_001368882.1(COL13A1):c.1952G>A (p.Gly651Glu)	Inborn genetic diseases [RCV002807685]	uncertain significance	10	69944162	69944162	Human	1	name
156040348	CV2279110	single nucleotide variant	NM_001368882.1(COL13A1):c.1264C>G (p.Pro422Ala)	Inborn genetic diseases [RCV002846021]	uncertain significance	10	69923835	69923835	Human	1	name
156252903	CV2284000	single nucleotide variant	NM_001368882.1(COL13A1):c.1880G>A (p.Gly627Glu)	Congenital myasthenic syndrome 19 [RCV003143550]\|Inborn genetic diseases [RCV002854947]	uncertain significance	10	69940989	69940989	Human	2	name
156294929	CV2321455	single nucleotide variant	NM_001368882.1(COL13A1):c.1988G>A (p.Gly663Glu)	Inborn genetic diseases [RCV002935889]	uncertain significance	10	69945690	69945690	Human	1	name
156229918	CV2353027	single nucleotide variant	NM_001368882.1(COL13A1):c.2117C>T (p.Ala706Val)	Inborn genetic diseases [RCV002986693]	uncertain significance	10	69952940	69952940	Human	1	name
156264120	CV2384569	single nucleotide variant	NM_001368882.1(COL13A1):c.1913C>T (p.Pro638Leu)	Inborn genetic diseases [RCV002714744]	uncertain significance	10	69941022	69941022	Human	1	name
401771415	CV2711667	single nucleotide variant	NM_001368882.1(COL13A1):c.1405C>T (p.Arg469Trp)	Inborn genetic diseases [RCV003261460]	uncertain significance	10	69927093	69927093	Human	1	name
401903283	CV2802664	single nucleotide variant	NM_001368882.1(COL13A1):c.1178G>C (p.Gly393Ala)	COL13A1-related disorder [RCV003394413]	uncertain significance	10	69922742	69922742	Human		name , trait , alternate_id
401961813	CV2844135	single nucleotide variant	NM_001368882.1(COL13A1):c.1103C>T (p.Ala368Val)	Inborn genetic diseases [RCV004614443]\|not provided [RCV003481976]	uncertain significance	10	69921895	69921895	Human	1	name
405230960	CV2988241	single nucleotide variant	NM_001368882.1(COL13A1):c.2062G>T (p.Glu688Ter)	not provided [RCV003711512]	pathogenic	10	69952885	69952885	Human		name
405073019	CV3034543	single nucleotide variant	NM_001368882.1(COL13A1):c.1561C>T (p.Pro521Ser)	not provided [RCV003698432]	uncertain significance	10	69930430	69930430	Human		name
402475796	CV3173694	single nucleotide variant	NM_001368882.1(COL13A1):c.1481A>G (p.Gln494Arg)	not provided [RCV003875232]	uncertain significance	10	69928995	69928995	Human		name
405274254	CV3195050	single nucleotide variant	NM_001368882.1(COL13A1):c.1921C>T (p.Pro641Ser)	COL13A1-related disorder [RCV003902290]\|Inborn genetic diseases [RCV004369751]\|not provided [RCV005101612]	benign\|likely benign\|uncertain significance	10	69944131	69944131	Human	2	name , trait , alternate_id
405686727	CV3306980	single nucleotide variant	NM_001368882.1(COL13A1):c.1153G>A (p.Gly385Ser)	Inborn genetic diseases [RCV004444530]	uncertain significance	10	69922717	69922717	Human	1	name
405686731	CV3306981	single nucleotide variant	NM_001368882.1(COL13A1):c.1207C>A (p.Leu403Ile)	Inborn genetic diseases [RCV004444531]	uncertain significance	10	69922771	69922771	Human	1	name
405686736	CV3306982	single nucleotide variant	NM_001368882.1(COL13A1):c.1406G>A (p.Arg469Gln)	Inborn genetic diseases [RCV004444532]	uncertain significance	10	69927094	69927094	Human	1	name
405686741	CV3306983	single nucleotide variant	NM_001368882.1(COL13A1):c.1438C>T (p.Pro480Ser)	Inborn genetic diseases [RCV004444533]	uncertain significance	10	69928952	69928952	Human	1	name
407451066	CV3426021	single nucleotide variant	NM_001368882.1(COL13A1):c.1652A>G (p.Glu551Gly)	Inborn genetic diseases [RCV004607924]	uncertain significance	10	69930521	69930521	Human	1	name
407451075	CV3426024	single nucleotide variant	NM_001368882.1(COL13A1):c.1012A>T (p.Ile338Phe)	Inborn genetic diseases [RCV004607927]	uncertain significance	10	69919074	69919074	Human	1	name
408366667	CV3514105	single nucleotide variant	NM_001368882.1(COL13A1):c.2132C>T (p.Ala711Val)	COL13A1-related disorder [RCV004756918]	uncertain significance	10	69952955	69952955	Human		name , trait , alternate_id
408366816	CV3515405	single nucleotide variant	NM_001368882.1(COL13A1):c.1136G>A (p.Gly379Glu)	COL13A1-related disorder [RCV004756971]	uncertain significance	10	69921928	69921928	Human		name , trait , alternate_id
596930013	CV3531301	single nucleotide variant	NM_001368882.1(COL13A1):c.1387G>A (p.Glu463Lys)	not provided [RCV004779875]	uncertain significance	10	69925861	69925861	Human		name
597648326	CV3660641	single nucleotide variant	NM_001368882.1(COL13A1):c.1957A>C (p.Lys653Gln)	Inborn genetic diseases [RCV004974212]	uncertain significance	10	69944167	69944167	Human	1	name
597648340	CV3660649	single nucleotide variant	NM_001368882.1(COL13A1):c.1534C>T (p.Pro512Ser)	Inborn genetic diseases [RCV004974215]	uncertain significance	10	69930403	69930403	Human	1	name
597648352	CV3660651	single nucleotide variant	NM_001368882.1(COL13A1):c.2111A>G (p.Gln704Arg)	Inborn genetic diseases [RCV004974217]	uncertain significance	10	69952934	69952934	Human	1	name
597648370	CV3660654	single nucleotide variant	NM_001368882.1(COL13A1):c.1897G>A (p.Gly633Ser)	Inborn genetic diseases [RCV004974220]	uncertain significance	10	69941006	69941006	Human	1	name
12838960	CV373501	single nucleotide variant	NM_001368882.1(COL13A1):c.2023G>A (p.Gly675Ser)	Inborn genetic diseases [RCV003343828]\|not provided [RCV000427929]	uncertain significance	10	69947307	69947307	Human	1	name
597966214	CV3823692	single nucleotide variant	NM_001368882.1(COL13A1):c.1288G>T (p.Glu430Ter)	not provided [RCV005165112]	pathogenic	10	69924966	69924966	Human		name
598218400	CV3891659	single nucleotide variant	NM_001368882.1(COL13A1):c.1487G>A (p.Gly496Glu)	Congenital myasthenic syndrome 19 [RCV005252502]	uncertain significance	10	69930044	69930044	Human	1	name
598216653	CV3952215	single nucleotide variant	NM_001368882.1(COL13A1):c.1154G>A (p.Gly385Asp)	Inborn genetic diseases [RCV005316955]	uncertain significance	10	69922718	69922718	Human	1	name
14396716	CV612880	single nucleotide variant	NM_001368882.1(COL13A1):c.1634G>T (p.Ser545Ile)	not provided [RCV000761725]	uncertain significance	10	69930503	69930503	Human		name
38597763	CV964343	single nucleotide variant	NM_001368882.1(COL13A1):c.1138C>T (p.Gln380Ter)	Congenital myasthenic syndrome 19 [RCV001253101]	pathogenic	10	69921930	69921930	Human	1	name
40814950	CV970225	single nucleotide variant	NM_001368882.1(COL13A1):c.1559G>A (p.Gly520Asp)	Congenital myasthenic syndrome 19 [RCV001261648]	pathogenic	10	69930428	69930428	Human	1	name
151760821	CV1380211	deletion	NM_001368882.1(COL13A1):c.330_354del (p.Pro111fs)	not provided [RCV001970161]	pathogenic	10	69822403	69822427	Human		name
597936771	CV3807712	deletion	NM_001368882.1(COL13A1):c.769_803del (p.Ser257fs)	not provided [RCV005158091]	pathogenic	10	69902764	69902798	Human		name
151859320	CV1389596	duplication	NM_001368882.1(COL13A1):c.913_915dup (p.Gly305dup)	not provided [RCV001905080]	uncertain significance	10	69905812	69905813	Human		name
151840816	CV1342197	indel	NM_001368882.1(COL13A1):c.52_53delinsAA (p.Gly18Lys)	not provided [RCV001956727]	uncertain significance	10	69802475	69802476	Human		name
243056298	CV2407617	insertion	NM_001368882.1(COL13A1):c.2141_2142insCT (p.Leu715fs)	Congenital myasthenic syndrome 19 [RCV003145696]	uncertain significance	10	69952964	69952965	Human	1	name
151803448	CV1375504	indel	NM_001368882.1(COL13A1):c.973_974delinsAA (p.Pro325Asn)	not provided [RCV001953141]	uncertain significance	10	69918291	69918292	Human		name
150333725	CV1174909	indel	NM_001368882.1(COL13A1):c.1884_1886delinsCCCT (p.Ser629fs)	Congenital myasthenic syndrome 19 [RCV001543594]	pathogenic	10	69940993	69940995	Human		name

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