Tcf12 Variant Search Result - Rat Genome Database

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452 records found for search term Tcf12

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150547675	CV1292121	single nucleotide variant	NM_207037.2(TCF12):c.*3A>G	TCF12-related craniosynostosis [RCV001733787]	likely benign	15	57282590	57282590	Human	1	name , trait
150338446	CV1174179	single nucleotide variant	NM_207037.2(TCF12):c.*646T>G	TCF12-related craniosynostosis [RCV001542371]	uncertain significance	15	57286791	57286791	Human	1	name , trait
150423194	CV1184992	single nucleotide variant	NM_207037.2(TCF12):c.76-45T>C	not provided [RCV001554996]	likely benign	15	56920981	56920981	Human		name
151236055	CV1319486	single nucleotide variant	NM_207037.2(TCF12):c.825+1G>A	not provided [RCV001797431]	pathogenic	15	57232431	57232431	Human		name
151355738	CV1326919	single nucleotide variant	NM_207037.2(TCF12):c.826-2A>G	TCF12-related craniosynostosis [RCV001822091]	pathogenic	15	57232710	57232710	Human	1	name , trait
151716882	CV1334784	single nucleotide variant	NM_207037.2(TCF12):c.579+2T>C	Developmental disorder [RCV001843740]	likely pathogenic	15	57197827	57197827	Human	1	name
151850315	CV1389759	single nucleotide variant	NM_207037.2(TCF12):c.971-5T>G	not provided [RCV001937255]	uncertain significance	15	57234038	57234038	Human		name
153305356	CV1688465	single nucleotide variant	NM_207037.2(TCF12):c.527-6C>A	not specified [RCV002266199]	uncertain significance	15	57197767	57197767	Human		name
155267824	CV1701386	single nucleotide variant	NM_207037.2(TCF12):c.325+2T>C	TCF12-related craniosynostosis [RCV002283611]	likely pathogenic	15	57091893	57091893	Human	1	name , trait
156243268	CV2043937	single nucleotide variant	NM_207037.2(TCF12):c.75+19G>C	not provided [RCV002805753]	benign	15	56920007	56920007	Human		name
156262329	CV2216551	single nucleotide variant	NM_207037.2(TCF12):c.526+1G>A	Inborn genetic diseases [RCV002703101]\|not provided [RCV004719303]	pathogenic\|uncertain significance	15	57192294	57192294	Human	1	name
11549142	CV255311	single nucleotide variant	NM_207037.2(TCF12):c.76-18A>G	not provided [RCV001668617]\|not specified [RCV000250022]	benign	15	56921008	56921008	Human		name
401721405	CV2737556	single nucleotide variant	NM_207037.2(TCF12):c.222+1G>A	Hypogonadotropic hypogonadism 26 with or without anosmia [RCV003314497]	likely pathogenic	15	57063824	57063824	Human	1	name
405245530	CV2969246	single nucleotide variant	NM_207037.2(TCF12):c.686-1G>A	not provided [RCV003685192]	likely pathogenic	15	57232290	57232290	Human		name
405217766	CV2972273	single nucleotide variant	NM_207037.2(TCF12):c.579+5G>T	not provided [RCV003680179]	pathogenic	15	57197830	57197830	Human		name
407501716	CV3495622	single nucleotide variant	NM_207037.2(TCF12):c.326-2A>G	not provided [RCV004697462]	likely pathogenic	15	57166400	57166400	Human		name
408389885	CV3524810	single nucleotide variant	NM_207037.2(TCF12):c.526+5G>C	not provided [RCV004769705]	uncertain significance	15	57192298	57192298	Human		name
597648859	CV3551672	single nucleotide variant	NM_207037.2(TCF12):c.686-3T>G	not provided [RCV004820385]	uncertain significance	15	57232288	57232288	Human		name
15169182	CV760394	single nucleotide variant	NM_207037.2(TCF12):c.971-4C>G	not provided [RCV000927445]	likely benign	15	57234039	57234039	Human		name
40887417	CV973956	single nucleotide variant	NM_207037.2(TCF12):c.390+5G>A	Inborn genetic diseases [RCV001266996]	uncertain significance	15	57166471	57166471	Human	1	name
150529543	CV1052868	single nucleotide variant	NM_207037.2(TCF12):c.1261-3C>G	TCF12-related craniosynostosis [RCV001726533]	pathogenic	15	57253259	57253259	Human	1	name , trait
150332923	CV1172741	single nucleotide variant	NM_207037.2(TCF12):c.826-53T>C	not provided [RCV001539230]	benign	15	57232659	57232659	Human		name
150408291	CV1177899	single nucleotide variant	NM_207037.2(TCF12):c.-22-92C>G	not provided [RCV001545841]	likely benign	15	56919800	56919800	Human		name
150422755	CV1181268	single nucleotide variant	NM_207037.2(TCF12):c.580-81C>A	not provided [RCV001553074]	likely benign	15	57231071	57231071	Human		name
150410766	CV1191688	single nucleotide variant	NM_207037.2(TCF12):c.222+68G>T	not provided [RCV001566223]	likely benign	15	57063891	57063891	Human		name
150442766	CV1204760	single nucleotide variant	NM_207037.2(TCF12):c.75+287G>A	not provided [RCV001583867]	likely benign	15	56920275	56920275	Human		name
150460371	CV1205765	single nucleotide variant	NM_207037.2(TCF12):c.825+49G>A	not provided [RCV001586722]	likely benign	15	57232479	57232479	Human		name
150442827	CV1264499	single nucleotide variant	NM_207037.2(TCF12):c.391-40C>T	not provided [RCV001679482]	benign	15	57192118	57192118	Human		name
150489710	CV1267491	single nucleotide variant	NM_207037.2(TCF12):c.76-205A>G	not provided [RCV001687515]	benign	15	56920821	56920821	Human		name
150492109	CV1267887	single nucleotide variant	NM_207037.2(TCF12):c.685+87A>G	not provided [RCV001687913]	benign	15	57231344	57231344	Human		name
150544302	CV1297751	single nucleotide variant	NM_207037.2(TCF12):c.1745+3A>G	not provided [RCV001772658]	uncertain significance	15	57263277	57263277	Human		name
151854839	CV1473673	single nucleotide variant	NM_207037.2(TCF12):c.1261-2A>C	not provided [RCV001904558]	uncertain significance	15	57253260	57253260	Human		name
152158443	CV1557096	single nucleotide variant	NM_207037.2(TCF12):c.826-14C>G	not provided [RCV002203018]	likely benign	15	57232698	57232698	Human		name
152126668	CV1614870	single nucleotide variant	NM_207037.2(TCF12):c.527-19T>G	not provided [RCV002082309]	benign	15	57197754	57197754	Human		name
155642123	CV1707251	single nucleotide variant	NM_207037.2(TCF12):c.1189-2A>G	not provided [RCV002288181]	likely pathogenic	15	57252419	57252419	Human		name
156157241	CV1954463	single nucleotide variant	NM_207037.2(TCF12):c.326-13C>G	not provided [RCV002573096]	likely benign	15	57166389	57166389	Human		name
156399455	CV1982133	single nucleotide variant	NM_207037.2(TCF12):c.1582+6T>C	not provided [RCV002635830]	uncertain significance	15	57262214	57262214	Human		name
156318479	CV2018173	single nucleotide variant	NM_207037.2(TCF12):c.1468-6C>T	not provided [RCV002672042]	likely benign	15	57262088	57262088	Human		name
156031175	CV2093477	single nucleotide variant	NM_207037.2(TCF12):c.1036-6G>A	TCF12-related craniosynostosis [RCV003319998]\|not provided [RCV002885407]	likely pathogenic\|uncertain significance	15	57243466	57243466	Human	1	name , trait
156268628	CV2167890	single nucleotide variant	NM_207037.2(TCF12):c.1188+1G>C	not provided [RCV003026906]	likely pathogenic	15	57251424	57251424	Human		name
11350786	CV237372	single nucleotide variant	NM_207037.2(TCF12):c.1035+5G>A	TCF12-related craniosynostosis [RCV001283796]\|not provided [RCV000224406]	pathogenic\|likely pathogenic	15	57234112	57234112	Human	1	name , trait
11551441	CV255314	single nucleotide variant	NM_207037.2(TCF12):c.579+11A>G	not provided [RCV001707604]\|not specified [RCV000253051]	benign	15	57197836	57197836	Human	1	name
11551441	CV255314	single nucleotide variant	NM_207037.2(TCF12):c.579+11A>G	not provided [RCV001707604]\|not specified [RCV000253051]	benign	15	57197836	57197837	Human	1	name
11545228	CV255315	single nucleotide variant	NM_207037.2(TCF12):c.580-12T>C	not provided [RCV001548537]\|not specified [RCV000244849]	benign\|likely benign	15	57231140	57231140	Human		name
401828621	CV2742962	single nucleotide variant	NM_207037.2(TCF12):c.1189-5G>C	not provided [RCV003325670]	uncertain significance	15	57252416	57252416	Human		name
401931406	CV2798388	single nucleotide variant	NM_207037.2(TCF12):c.1745+2T>C	TCF12-related disorder [RCV003391378]	likely pathogenic	15	57263276	57263276	Human		name , trait , alternate_id
401947020	CV2831949	single nucleotide variant	NM_207037.2(TCF12):c.1746-8T>G	TCF12-related craniosynostosis [RCV003447456]	likely pathogenic	15	57273022	57273022	Human	1	name , trait
405189832	CV2968502	single nucleotide variant	NM_207037.2(TCF12):c.526+17A>G	not provided [RCV003677102]	likely benign	15	57192310	57192310	Human		name
405134711	CV3115328	single nucleotide variant	NM_207037.2(TCF12):c.325+17C>T	not provided [RCV003816173]	likely benign	15	57091908	57091908	Human		name
405103705	CV3116247	single nucleotide variant	NM_207037.2(TCF12):c.825+14C>T	not provided [RCV003811963]	likely benign	15	57232444	57232444	Human		name
405185012	CV3124233	single nucleotide variant	NM_207037.2(TCF12):c.685+18A>T	not provided [RCV003820432]	likely benign	15	57231275	57231275	Human		name
405110220	CV3133113	single nucleotide variant	NM_207037.2(TCF12):c.222+17A>G	not provided [RCV003836099]	likely benign	15	57063840	57063840	Human		name
402516078	CV3135817	single nucleotide variant	NM_207037.2(TCF12):c.526+17A>T	not provided [RCV003824443]	likely benign	15	57192310	57192310	Human		name
405287847	CV3203350	single nucleotide variant	NM_207037.2(TCF12):c.1583-8T>C	TCF12-related disorder [RCV003924629]	likely benign	15	57263104	57263104	Human		name , trait , alternate_id
408387651	CV3527131	single nucleotide variant	NM_207037.2(TCF12):c.1189-6T>A	not provided [RCV004773433]	uncertain significance	15	57252415	57252415	Human		name
12848850	CV373605	single nucleotide variant	NM_207037.2(TCF12):c.1036-1G>T	not provided [RCV000419466]	likely pathogenic	15	57243471	57243471	Human		name
597940523	CV3757255	single nucleotide variant	NM_207037.2(TCF12):c.1115-9T>C	not provided [RCV005077440]	likely benign	15	57251341	57251341	Human		name
597944823	CV3779490	single nucleotide variant	NM_207037.2(TCF12):c.222+16A>T	not provided [RCV005134454]	likely benign	15	57063839	57063839	Human		name
597912822	CV3817331	single nucleotide variant	NM_207037.2(TCF12):c.1115-1G>A	not provided [RCV005154533]	likely pathogenic	15	57251349	57251349	Human		name
597933204	CV3858581	single nucleotide variant	NM_207037.2(TCF12):c.579+18T>G	not provided [RCV005207050]	likely benign	15	57197843	57197843	Human		name
13798608	CV551431	single nucleotide variant	NM_207037.2(TCF12):c.1467+1G>C	Coronal craniosynostosis [RCV000678478]	likely pathogenic	15	57253469	57253469	Human	2	name
8572534	CV70558	single nucleotide variant	NM_207037.2(TCF12):c.1035+3G>C	TCF12-related craniosynostosis [RCV000049329]\|not provided [RCV004794355]	pathogenic\|likely pathogenic	15	57234110	57234110	Human	1	name , trait
15163468	CV760350	single nucleotide variant	NM_207037.2(TCF12):c.1036-9T>C	not provided [RCV000926135]	benign	15	57243463	57243463	Human		name
15187813	CV778117	single nucleotide variant	NM_207037.2(TCF12):c.1582+7A>G	not provided [RCV000953698]	benign	15	57262215	57262215	Human		name
150338900	CV1167637	single nucleotide variant	NM_207037.2(TCF12):c.1035+74A>T	not provided [RCV001533853]	likely benign	15	57234181	57234181	Human		name
150339917	CV1168330	single nucleotide variant	NM_207037.2(TCF12):c.390+237A>G	not provided [RCV001534746]	benign	15	57166703	57166703	Human		name
150333974	CV1169639	single nucleotide variant	NM_207037.2(TCF12):c.391-144C>A	not provided [RCV001537559]	likely benign	15	57192014	57192014	Human		name
150336209	CV1172740	single nucleotide variant	NM_207037.2(TCF12):c.685+298A>G	not provided [RCV001540890]	benign	15	57231555	57231555	Human		name
150415724	CV1177901	single nucleotide variant	NM_207037.2(TCF12):c.971-224G>A	not provided [RCV001548707]	likely benign	15	57233819	57233819	Human		name
150404951	CV1177904	single nucleotide variant	NM_207037.2(TCF12):c.*11+297T>C	not provided [RCV001544643]	likely benign	15	57282895	57282895	Human		name
150422074	CV1194953	single nucleotide variant	NM_207037.2(TCF12):c.685+328T>C	not provided [RCV001570825]	likely benign	15	57231585	57231585	Human		name
150420183	CV1198645	single nucleotide variant	NM_207037.2(TCF12):c.326-137T>C	not provided [RCV001577500]	likely benign	15	57166265	57166265	Human		name
150414790	CV1198646	single nucleotide variant	NM_207037.2(TCF12):c.390+251T>C	not provided [RCV001575115]	likely benign	15	57166717	57166717	Human		name
150459582	CV1202943	single nucleotide variant	NM_207037.2(TCF12):c.970+294A>G	not provided [RCV001586596]	likely benign	15	57233150	57233150	Human		name
150477870	CV1203253	single nucleotide variant	NM_207037.2(TCF12):c.-22-128G>A	not provided [RCV001589847]	likely benign	15	56919764	56919764	Human		name
150495533	CV1205030	single nucleotide variant	NM_207037.2(TCF12):c.526+188T>A	not provided [RCV001593522]	likely benign	15	57192481	57192481	Human		name
150499397	CV1209075	single nucleotide variant	NM_207037.2(TCF12):c.970+287T>C	not provided [RCV001594293]	likely benign	15	57233143	57233143	Human		name
150503611	CV1212517	single nucleotide variant	NM_207037.2(TCF12):c.579+222T>A	not provided [RCV001595392]	benign	15	57198047	57198047	Human		name
150441111	CV1220267	single nucleotide variant	NM_207037.2(TCF12):c.148+275G>A	not provided [RCV001610251]	benign	15	56921373	56921373	Human		name
150507415	CV1226586	single nucleotide variant	NM_207037.2(TCF12):c.390+268A>G	not provided [RCV001635954]	benign	15	57166734	57166734	Human		name
150515706	CV1227642	single nucleotide variant	NM_207037.2(TCF12):c.390+120C>T	not provided [RCV001638916]	benign	15	57166586	57166586	Human		name
150453925	CV1232187	single nucleotide variant	NM_207037.2(TCF12):c.1745+51C>A	not provided [RCV001648200]	benign	15	57263325	57263325	Human		name
150443894	CV1232937	duplication	NM_207037.2(TCF12):c.580-186dup	not provided [RCV001645609]	benign	15	57230954	57230955	Human		name
150480071	CV1239501	single nucleotide variant	NM_207037.2(TCF12):c.825+114T>G	not provided [RCV001652664]	benign	15	57232544	57232544	Human		name
150476017	CV1239820	single nucleotide variant	NM_207037.2(TCF12):c.686-209T>C	not provided [RCV001651997]	benign	15	57232082	57232082	Human		name
150482204	CV1247416	deletion	NM_207037.2(TCF12):c.685+116del	not provided [RCV001673241]	benign	15	57231366	57231366	Human		name
150469309	CV1249073	single nucleotide variant	NM_207037.2(TCF12):c.222+231C>T	not provided [RCV001670835]	benign	15	57064054	57064054	Human		name
150505868	CV1254726	single nucleotide variant	NM_207037.2(TCF12):c.825+128G>A	not provided [RCV001678031]	benign	15	57232558	57232558	Human		name
150471942	CV1259215	single nucleotide variant	NM_207037.2(TCF12):c.527-228C>T	not provided [RCV001684460]	benign	15	57197545	57197545	Human		name
150439832	CV1266830	single nucleotide variant	NM_207037.2(TCF12):c.579+267A>G	not provided [RCV001690265]	benign	15	57198092	57198092	Human		name
150485708	CV1273824	single nucleotide variant	NM_207037.2(TCF12):c.326-257G>T	not provided [RCV001698791]	benign	15	57166145	57166145	Human		name
150483104	CV1280133	single nucleotide variant	NM_207037.2(TCF12):c.526+122G>A	not provided [RCV001715132]	benign	15	57192415	57192415	Human		name
150530058	CV1291229	single nucleotide variant	NM_207037.2(TCF12):c.-22-335G>A	not provided [RCV001732717]	likely benign	15	56919557	56919557	Human		name
405052763	CV3138388	single nucleotide variant	NM_207037.2(TCF12):c.1036-19T>G	not provided [RCV003832232]	uncertain significance	15	57243453	57243453	Human		name
150335903	CV1172742	deletion	NM_207037.2(TCF12):c.1115-210del	not provided [RCV001540755]	likely benign	15	57251133	57251133	Human		name
150412030	CV1177902	single nucleotide variant	NM_207037.2(TCF12):c.1036-304T>C	not provided [RCV001547386]	likely benign	15	57243168	57243168	Human		name
150410436	CV1177903	single nucleotide variant	NM_207037.2(TCF12):c.1114+103T>C	not provided [RCV001546641]	likely benign	15	57243653	57243653	Human		name
150422316	CV1181269	single nucleotide variant	NM_207037.2(TCF12):c.1979-239T>A	not provided [RCV001552496]	likely benign	15	57282206	57282206	Human		name
8584486	CV119059	single nucleotide variant	NM_207037.1(TCF12):c.*12-1158A>G	Lung cancer [RCV000099579]	uncertain significance	15	57284999	57284999	Human		name
150406761	CV1194955	single nucleotide variant	NM_207037.2(TCF12):c.1582+134A>G	not provided [RCV001572121]	likely benign	15	57262342	57262342	Human		name
150462583	CV1206610	single nucleotide variant	NM_207037.2(TCF12):c.1114+132A>C	not provided [RCV001587011]	likely benign	15	57243682	57243682	Human		name
150434996	CV1206886	single nucleotide variant	NM_207037.2(TCF12):c.1582+261A>G	not provided [RCV001582235]	likely benign	15	57262469	57262469	Human		name
150501464	CV1213364	single nucleotide variant	NM_207037.2(TCF12):c.1035+278T>C	not provided [RCV001594776]	benign	15	57234385	57234385	Human		name
150514490	CV1228533	single nucleotide variant	NM_207037.2(TCF12):c.1468-321C>T	not provided [RCV001638520]	benign	15	57261773	57261773	Human		name
150459076	CV1236039	single nucleotide variant	NM_207037.2(TCF12):c.1261-168A>G	not provided [RCV001649010]	benign	15	57253094	57253094	Human		name
150508932	CV1244953	single nucleotide variant	NM_207037.2(TCF12):c.1036-205C>T	not provided [RCV001659204]	benign	15	57243267	57243267	Human		name
150442019	CV1264365	single nucleotide variant	NM_207037.2(TCF12):c.1189-126T>C	not provided [RCV001679348]	benign	15	57252295	57252295	Human		name
150472608	CV1272517	single nucleotide variant	NM_207037.2(TCF12):c.1468-302T>G	not provided [RCV001695573]	benign	15	57261792	57261792	Human		name
150478832	CV1273364	single nucleotide variant	NM_207037.2(TCF12):c.1978+320C>A	not provided [RCV001696567]	benign	15	57273582	57273582	Human		name
150492520	CV1281179	duplication	NM_207037.2(TCF12):c.1115-183dup	not provided [RCV001716829]	benign	15	57251159	57251160	Human		name
150531541	CV1291265	single nucleotide variant	NM_207037.2(TCF12):c.1583-188A>T	not provided [RCV001733118]	likely benign	15	57262924	57262924	Human		name
405269786	CV3201812	single nucleotide variant	NM_207037.2(TCF12):c.222+8840C>G	TCF12-related disorder [RCV003899716]	likely benign	15	57072663	57072663	Human		name , trait , alternate_id
150415104	CV1177900	deletion	NM_207037.2(TCF12):c.580-11405del	not provided [RCV001548426]	likely benign	15	57219747	57219747	Human		name
150425274	CV1184993	single nucleotide variant	NM_207037.2(TCF12):c.580-11913C>T	not provided [RCV001557791]	likely benign	15	57219239	57219239	Human		name
8584484	CV119057	single nucleotide variant	NM_207037.1(TCF12):c.149-71073A>C	Lung cancer [RCV000099577]	uncertain significance	15	56992677	56992677	Human		name
8584485	CV119058	single nucleotide variant	NM_207037.1(TCF12):c.580-10769G>A	Lung cancer [RCV000099578]	uncertain significance	15	57220383	57220383	Human		name
150406234	CV1191689	single nucleotide variant	NM_207037.2(TCF12):c.580-11292G>A	not provided [RCV001564630]	likely benign	15	57219860	57219860	Human		name
150440804	CV1204453	single nucleotide variant	NM_207037.2(TCF12):c.580-11355C>T	not provided [RCV001583558]	likely benign	15	57219797	57219797	Human		name
150512620	CV1228518	microsatellite	NM_207037.2(TCF12):c.970+214TG[2]	not provided [RCV001637650]	benign	15	57233070	57233071	Human		name
150436637	CV1234091	deletion	NM_207037.2(TCF12):c.580-11414del	not provided [RCV001644218]	benign	15	57219721	57219721	Human		name
150487213	CV1262702	single nucleotide variant	NM_207037.2(TCF12):c.580-11386C>T	not provided [RCV001687100]	benign	15	57219766	57219766	Human		name
150471727	CV1270134	duplication	NM_207037.2(TCF12):c.580-11414dup	not provided [RCV001695422]	benign	15	57219720	57219721	Human		name
150510133	CV1286693	microsatellite	NM_207037.2(TCF12):c.970+176TA[2]	not provided [RCV001720928]	benign	15	57233032	57233033	Human		name
151233252	CV1317017	microsatellite	NM_207037.2(TCF12):c.75+43TTTG[4]	not provided [RCV001786838]	likely benign	15	56920031	56920034	Human		name
153349194	CV1694045	single nucleotide variant	NM_207037.2(TCF12):c.1035+4660C>T	TCF12-related craniosynostosis [RCV002275586]	uncertain significance	15	57238767	57238767	Human	1	name , trait
156240964	CV2265634	single nucleotide variant	NM_207037.2(TCF12):c.580-11627T>C	Inborn genetic diseases [RCV002830521]	uncertain significance	15	57219525	57219525	Human	1	name
405269836	CV3197927	single nucleotide variant	NM_207037.2(TCF12):c.580-11601G>C	TCF12-related disorder [RCV003899740]	likely benign	15	57219551	57219551	Human		name , trait , alternate_id
596942719	CV3542664	deletion	NM_207037.2(TCF12):c.1036-1_1040del	not provided [RCV004798248]	pathogenic	15	57243468	57243473	Human		name
155798802	CV1862165	duplication	NM_207037.2(TCF12):c.20dup (p.Met8fs)	Hypogonadism with anosmia [RCV002471568]	uncertain significance	15	56919932	56919933	Human	1	name
156210066	CV1959594	deletion	NM_207037.2(TCF12):c.971-13_971-12del	not provided [RCV002575117]	likely benign	15	57234029	57234030	Human		name
597904624	CV3784600	deletion	NM_207037.2(TCF12):c.1035+3_1035+6del	not provided [RCV005127651]	pathogenic	15	57234108	57234111	Human		name
15134048	CV754552	single nucleotide variant	NM_207037.2(TCF12):c.57C>T (p.Asp19=)	not provided [RCV000920620]	likely benign	15	56919970	56919970	Human		name
150544210	CV1295874	deletion	NM_207037.2(TCF12):c.1978+3_1978+10del	not provided [RCV001772383]	likely pathogenic\|uncertain significance	15	57273261	57273268	Human		name
156347921	CV1989225	single nucleotide variant	NM_207037.2(TCF12):c.11A>T (p.Gln4Leu)	Inborn genetic diseases [RCV004965999]\|not provided [RCV002631776]	uncertain significance	15	56919924	56919924	Human	1	name
155986673	CV2097871	single nucleotide variant	NM_207037.2(TCF12):c.23T>C (p.Met8Thr)	not provided [RCV002882194]	uncertain significance	15	56919936	56919936	Human		name
11548027	CV255312	single nucleotide variant	NM_207037.2(TCF12):c.135A>G (p.Gln45=)	not provided [RCV001696203]\|not specified [RCV000248546]	benign	15	56921085	56921085	Human		name
11548120	CV255313	single nucleotide variant	NM_207037.2(TCF12):c.297A>G (p.Pro99=)	not provided [RCV001594926]\|not specified [RCV000248669]	benign	15	57091863	57091863	Human		name
407512879	CV3485840	single nucleotide variant	NM_207037.2(TCF12):c.22A>G (p.Met8Val)	Inborn genetic diseases [RCV004673619]	uncertain significance	15	56919935	56919935	Human	1	name
408389283	CV3529309	single nucleotide variant	NM_207037.2(TCF12):c.19C>T (p.Arg7Cys)	not provided [RCV004774131]	uncertain significance	15	56919932	56919932	Human		name
25318117	CV805835	deletion	NM_207037.2(TCF12):c.60del (p.Leu21fs)	not provided [RCV001008427]	likely pathogenic	15	56919973	56919973	Human		name
126739052	CV1021337	single nucleotide variant	NM_207037.2(TCF12):c.801C>T (p.Gly267=)	TCF12-related craniosynostosis [RCV001335664]\|not provided [RCV004809565]	uncertain significance	15	57232406	57232406	Human	1	name , trait
127274497	CV1065769	deletion	NM_207037.2(TCF12):c.207del (p.Tyr70fs)	TCF12-related craniosynostosis [RCV001391268]	pathogenic	15	57063807	57063807	Human	1	name , trait
150455095	CV1277128	duplication	NM_207037.2(TCF12):c.580-187_580-186dup	not provided [RCV001708920]	benign	15	57230954	57230955	Human		name
150530182	CV1291474	duplication	NM_207037.2(TCF12):c.1583-69_1583-66dup	not provided [RCV001732782]	benign	15	57263040	57263041	Human		name
156281601	CV1931627	single nucleotide variant	NM_207037.2(TCF12):c.321G>A (p.Leu107=)	not provided [RCV002628453]	likely benign	15	57091887	57091887	Human		name
10403653	CV208221	single nucleotide variant	NM_207037.2(TCF12):c.897C>T (p.Arg299=)	not specified [RCV000193062]	uncertain significance	15	57232783	57232783	Human		name
401828774	CV2743109	single nucleotide variant	NM_207037.2(TCF12):c.80T>A (p.Phe27Tyr)	not provided [RCV003325818]	uncertain significance	15	56921030	56921030	Human		name
405136204	CV3130607	single nucleotide variant	NM_207037.2(TCF12):c.939T>G (p.Thr313=)	not provided [RCV003838840]	likely benign	15	57232825	57232825	Human		name
597879635	CV3744725	single nucleotide variant	NM_207037.2(TCF12):c.663C>T (p.Phe221=)	not provided [RCV005069750]	likely benign	15	57231235	57231235	Human		name
616939507	CV4014001	single nucleotide variant	NM_207037.2(TCF12):c.636A>G (p.Pro212=)	not provided [RCV005413493]	likely benign	15	57231208	57231208	Human		name
15178730	CV739701	single nucleotide variant	NM_207037.2(TCF12):c.690G>C (p.Gly230=)	not provided [RCV000906942]	likely benign	15	57232295	57232295	Human		name
126737168	CV1000904	duplication	NM_207037.2(TCF12):c.662dup (p.Ala222fs)	not provided [RCV001311862]	pathogenic	15	57231232	57231233	Human		name
151355741	CV1326922	duplication	NM_207037.2(TCF12):c.596dup (p.Asn200fs)	HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA [RCV001822094]	pathogenic	15	57231164	57231165	Human		name
151355742	CV1326923	deletion	NM_207037.2(TCF12):c.445del (p.Ser149fs)	HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA [RCV001822095]	pathogenic	15	57192211	57192211	Human		name
152041091	CV1519451	single nucleotide variant	NM_207037.2(TCF12):c.268C>T (p.Arg90Ter)	TCF12-related craniosynostosis [RCV002071018]\|not provided [RCV005412366]	pathogenic\|likely pathogenic	15	57091834	57091834	Human	1	name , trait
152131848	CV1663700	single nucleotide variant	NM_207037.2(TCF12):c.1410C>T (p.Ser470=)	not provided [RCV002155645]	likely benign	15	57253411	57253411	Human		name
155794871	CV1861094	deletion	NM_207037.2(TCF12):c.381del (p.Gly128fs)	Global developmental delay [RCV002468807]	likely pathogenic	15	57166457	57166457	Human	2	name
156121287	CV2039876	single nucleotide variant	NM_207037.2(TCF12):c.1215C>T (p.His405=)	not provided [RCV002785802]	likely benign	15	57252447	57252447	Human		name
156282493	CV2220815	single nucleotide variant	NM_207037.2(TCF12):c.206C>T (p.Ser69Phe)	Inborn genetic diseases [RCV002747191]	uncertain significance	15	57063807	57063807	Human	1	name
156157738	CV2262425	single nucleotide variant	NM_207037.2(TCF12):c.107C>G (p.Thr36Ser)	Inborn genetic diseases [RCV002827176]\|not provided [RCV003720680]	uncertain significance	15	56921057	56921057	Human	1	name
329353555	CV2466880	single nucleotide variant	NM_207037.2(TCF12):c.130A>G (p.Ser44Gly)	Inborn genetic diseases [RCV003201353]	uncertain significance	15	56921080	56921080	Human	1	name
11551669	CV255317	single nucleotide variant	NM_207037.2(TCF12):c.1894T>C (p.Leu632=)	not provided [RCV001640590]\|not specified [RCV000253334]	benign	15	57273178	57273178	Human		name
11544520	CV255318	single nucleotide variant	NM_207037.2(TCF12):c.1950C>T (p.Val650=)	TCF12-related craniosynostosis [RCV002479976]\|not provided [RCV000973968]\|not specified [RCV000243904]	benign\|likely benign	15	57273234	57273234	Human	2	name , trait
401798508	CV2742464	single nucleotide variant	NM_207037.2(TCF12):c.143G>A (p.Gly48Glu)	not provided [RCV003324908]	uncertain significance	15	56921093	56921093	Human		name
401902939	CV2797646	single nucleotide variant	NM_207037.2(TCF12):c.296C>T (p.Pro99Leu)	TCF12-related disorder [RCV003419154]	uncertain significance	15	57091862	57091862	Human		name , trait , alternate_id
402492819	CV2877970	single nucleotide variant	NM_207037.2(TCF12):c.1911C>G (p.Pro637=)	not provided [RCV003545112]	likely benign	15	57273195	57273195	Human		name
405122408	CV3004280	single nucleotide variant	NM_207037.2(TCF12):c.233A>G (p.Asp78Gly)	not provided [RCV003724034]	uncertain significance	15	57091799	57091799	Human		name
405049111	CV3025413	duplication	NM_207037.2(TCF12):c.674dup (p.Phe226fs)	not provided [RCV003696878]	pathogenic	15	57231243	57231244	Human		name
405171140	CV3029396	single nucleotide variant	NM_207037.2(TCF12):c.1119C>G (p.Thr373=)	not provided [RCV003704610]	likely benign	15	57251354	57251354	Human		name
405253461	CV3054214	single nucleotide variant	NM_207037.2(TCF12):c.1929T>C (p.Ile643=)	not provided [RCV003722538]	benign	15	57273213	57273213	Human		name
405216313	CV3055638	single nucleotide variant	NM_207037.2(TCF12):c.1185C>G (p.Ser395=)	TCF12-related disorder [RCV003956512]\|not provided [RCV003732700]	likely benign	15	57251420	57251420	Human	1	name , trait , alternate_id
405221057	CV3059836	single nucleotide variant	NM_207037.2(TCF12):c.112C>T (p.Pro38Ser)	not provided [RCV003733191]	uncertain significance	15	56921062	56921062	Human		name
405277559	CV3195887	single nucleotide variant	NM_207037.2(TCF12):c.1140A>C (p.Gly380=)	TCF12-related disorder [RCV003904414]	likely benign	15	57251375	57251375	Human		name , trait , alternate_id
405289974	CV3214044	single nucleotide variant	NM_207037.2(TCF12):c.1452T>C (p.Ser484=)	TCF12-related disorder [RCV003926887]	likely benign	15	57253453	57253453	Human		name , trait , alternate_id
405257260	CV3222496	deletion	NM_207037.2(TCF12):c.655del (p.Ser219fs)	TCF12-related craniosynostosis [RCV003985992]	likely pathogenic	15	57231227	57231227	Human	1	name , trait
407512872	CV3485834	single nucleotide variant	NM_207037.2(TCF12):c.163G>C (p.Gly55Arg)	Inborn genetic diseases [RCV004673616]	uncertain significance	15	57063764	57063764	Human	1	name
407574687	CV3495435	deletion	NM_207037.2(TCF12):c.791del (p.Ser264fs)	TCF12-related craniosynostosis [RCV004720192]	pathogenic	15	57232396	57232396	Human	1	name , trait
408391211	CV3523109	single nucleotide variant	NM_207037.2(TCF12):c.254A>C (p.His85Pro)	not provided [RCV004770481]	uncertain significance	15	57091820	57091820	Human		name
408391214	CV3523110	single nucleotide variant	NM_207037.2(TCF12):c.241C>G (p.His81Asp)	not provided [RCV004770482]	uncertain significance	15	57091807	57091807	Human		name
596931010	CV3529852	single nucleotide variant	NM_207037.2(TCF12):c.263A>C (p.Asp88Ala)	not provided [RCV004780902]	uncertain significance	15	57091829	57091829	Human		name
596922344	CV3537051	single nucleotide variant	NM_207037.2(TCF12):c.253C>G (p.His85Asp)	not provided [RCV004786046]	uncertain significance	15	57091819	57091819	Human		name
596928616	CV3541573	duplication	NM_207037.2(TCF12):c.465dup (p.Tyr156fs)	TCF12-related craniosynostosis [RCV004797445]	likely pathogenic	15	57192231	57192232	Human	2	name , trait
596947174	CV3548724	deletion	NM_207037.2(TCF12):c.592del (p.Ser198fs)	not provided [RCV004811048]	pathogenic	15	57231164	57231164	Human		name
597640586	CV3615704	single nucleotide variant	NM_207037.2(TCF12):c.172A>G (p.Thr58Ala)	Inborn genetic diseases [RCV004971448]	uncertain significance	15	57063773	57063773	Human	1	name
597944932	CV3776735	single nucleotide variant	NM_207037.2(TCF12):c.262G>T (p.Asp88Tyr)	not provided [RCV005119591]	uncertain significance	15	57091828	57091828	Human		name
597942702	CV3816305	single nucleotide variant	NM_207037.2(TCF12):c.1578T>C (p.Tyr526=)	not provided [RCV005159366]	likely benign	15	57262204	57262204	Human		name
597849868	CV3824515	single nucleotide variant	NM_207037.2(TCF12):c.1182C>T (p.His394=)	not provided [RCV005173554]	likely benign	15	57251417	57251417	Human		name
616935579	CV4016132	duplication	NM_207037.2(TCF12):c.875dup (p.Pro293fs)	not provided [RCV005414998]	pathogenic	15	57232759	57232760	Human		name
15015362	CV680054	duplication	NM_207037.2(TCF12):c.786dup (p.Ser263fs)	TCF12-related craniosynostosis [RCV000853581]\|not provided [RCV002538878]	pathogenic	15	57232389	57232390	Human	1	name , trait
15200263	CV703264	single nucleotide variant	NM_207037.2(TCF12):c.1638C>T (p.Asn546=)	not provided [RCV000957279]	benign\|likely benign	15	57263167	57263167	Human		name
15102934	CV754553	single nucleotide variant	NM_207037.2(TCF12):c.1071G>A (p.Pro357=)	not provided [RCV000915065]	benign	15	57243507	57243507	Human		name
15147056	CV754554	single nucleotide variant	NM_207037.2(TCF12):c.1242C>T (p.Phe414=)	not provided [RCV000922829]	likely benign	15	57252474	57252474	Human		name
15198975	CV770249	single nucleotide variant	NM_207037.2(TCF12):c.1791A>G (p.Glu597=)	not provided [RCV000934969]	likely benign	15	57273075	57273075	Human		name
150337639	CV1166140	single nucleotide variant	NM_207037.2(TCF12):c.998C>G (p.Ser333Ter)	not provided [RCV001532753]	pathogenic	15	57234070	57234070	Human		name
150417701	CV1194952	single nucleotide variant	NM_207037.2(TCF12):c.398T>C (p.Leu133Pro)	not provided [RCV001568885]	uncertain significance	15	57192165	57192165	Human		name
150411185	CV1196130	single nucleotide variant	NM_207037.2(TCF12):c.311A>G (p.Asn104Ser)	not provided [RCV001573540]	likely benign	15	57091877	57091877	Human		name
150541030	CV1298641	single nucleotide variant	NM_207037.2(TCF12):c.454C>T (p.Pro152Ser)	TCF12-related disorder [RCV003968533]\|not provided [RCV001760789]	uncertain significance	15	57192221	57192221	Human	1	name , trait , alternate_id
150541039	CV1298645	single nucleotide variant	NM_207037.2(TCF12):c.857A>G (p.Asp286Gly)	not provided [RCV001760793]	uncertain significance	15	57232743	57232743	Human		name
150533957	CV1300303	single nucleotide variant	NM_207037.2(TCF12):c.742G>C (p.Gly248Arg)	not provided [RCV001758431]	uncertain significance	15	57232347	57232347	Human		name
150533817	CV1302105	single nucleotide variant	NM_207037.2(TCF12):c.616C>T (p.Arg206Cys)	not provided [RCV001758379]	uncertain significance	15	57231188	57231188	Human		name
151355739	CV1326920	duplication	NM_207037.2(TCF12):c.1528dup (p.Thr510fs)	HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA [RCV001822092]	pathogenic	15	57262153	57262154	Human		name
151355740	CV1326921	duplication	NM_207037.2(TCF12):c.1270dup (p.Met424fs)	HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA [RCV001822093]	pathogenic	15	57253269	57253270	Human		name
9832602	CV132727	deletion	NM_207037.2(TCF12):c.1071del (p.Ser358fs)	TCF12-related craniosynostosis [RCV000157615]	pathogenic	15	57243507	57243507	Human	1	name , trait
9832603	CV132728	duplication	NM_207037.2(TCF12):c.1366dup (p.Ile456fs)	TCF12-related craniosynostosis [RCV000157616]	pathogenic	15	57253366	57253367	Human	1	name , trait
151858404	CV1503606	duplication	NM_207037.2(TCF12):c.1836dup (p.Arg613fs)	not provided [RCV001996819]	pathogenic	15	57273119	57273120	Human		name
153000461	CV1683624	single nucleotide variant	NM_207037.2(TCF12):c.722C>A (p.Ser241Ter)	not provided [RCV002254079]	pathogenic	15	57232327	57232327	Human		name
153002242	CV1685464	single nucleotide variant	NM_207037.2(TCF12):c.632A>G (p.Tyr211Cys)	not provided [RCV002259450]	uncertain significance	15	57231204	57231204	Human		name
153305357	CV1688466	single nucleotide variant	NM_207037.2(TCF12):c.904A>G (p.Thr302Ala)	not specified [RCV002266200]	uncertain significance	15	57232790	57232790	Human		name
153302315	CV1689552	single nucleotide variant	NM_207037.2(TCF12):c.910A>G (p.Ser304Gly)	not provided [RCV002267503]	uncertain significance	15	57232796	57232796	Human		name
153348797	CV1692842	single nucleotide variant	NM_207037.2(TCF12):c.725A>G (p.Asn242Ser)	not provided [RCV002274698]	uncertain significance	15	57232330	57232330	Human		name
153349013	CV1693173	single nucleotide variant	NM_207037.2(TCF12):c.668G>A (p.Ser223Asn)	not provided [RCV002275396]	uncertain significance	15	57231240	57231240	Human		name
153348175	CV1695224	single nucleotide variant	NM_207037.2(TCF12):c.920A>T (p.Tyr307Phe)	not provided [RCV002279155]	uncertain significance	15	57232806	57232806	Human		name
155264896	CV1704445	single nucleotide variant	NM_207037.2(TCF12):c.866C>G (p.Thr289Arg)	not provided [RCV002284661]	uncertain significance	15	57232752	57232752	Human		name
155645079	CV1710563	deletion	NM_207037.2(TCF12):c.2032del (p.Val678fs)	not provided [RCV002293859]	uncertain significance	15	57282498	57282498	Human		name
155802935	CV1857857	single nucleotide variant	NM_207037.2(TCF12):c.634C>T (p.Pro212Ser)	not provided [RCV002461707]	uncertain significance	15	57231206	57231206	Human		name
155803281	CV1858030	single nucleotide variant	NM_207037.2(TCF12):c.367G>C (p.Asp123His)	not provided [RCV002461880]	uncertain significance	15	57166443	57166443	Human		name
156047638	CV1867557	deletion	NM_207037.2(TCF12):c.1495del (p.Ser499fs)	not provided [RCV002510029]	pathogenic	15	57262121	57262121	Human		name
156207107	CV1913260	single nucleotide variant	NM_207037.2(TCF12):c.946A>G (p.Ile316Val)	not provided [RCV002595925]	benign\|likely benign	15	57232832	57232832	Human		name
156105391	CV2008355	duplication	NM_207037.2(TCF12):c.1346dup (p.Leu449fs)	not provided [RCV002695460]	pathogenic	15	57253344	57253345	Human		name
156224705	CV2219432	duplication	NM_207037.2(TCF12):c.2042dup (p.Ser682fs)	Inborn genetic diseases [RCV002712360]	uncertain significance	15	57282507	57282508	Human	1	name
156342593	CV2222342	single nucleotide variant	NM_207037.2(TCF12):c.988G>T (p.Ala330Ser)	Inborn genetic diseases [RCV002719304]	uncertain significance	15	57234060	57234060	Human	1	name
156212570	CV2259968	single nucleotide variant	NM_207037.2(TCF12):c.605A>G (p.Asp202Gly)	Inborn genetic diseases [RCV002804175]	uncertain significance	15	57231177	57231177	Human	1	name
156019141	CV2272503	single nucleotide variant	NM_207037.2(TCF12):c.562C>T (p.Pro188Ser)	Inborn genetic diseases [RCV002844456]	likely benign	15	57197808	57197808	Human	1	name
156088708	CV2290725	single nucleotide variant	NM_207037.2(TCF12):c.922G>A (p.Val308Ile)	Inborn genetic diseases [RCV002869696]	uncertain significance	15	57232808	57232808	Human	1	name
156060223	CV2305386	single nucleotide variant	NM_207037.2(TCF12):c.908G>A (p.Ser303Asn)	Inborn genetic diseases [RCV002911737]	uncertain significance	15	57232794	57232794	Human	1	name
155905580	CV2349806	single nucleotide variant	NM_207037.2(TCF12):c.421G>A (p.Gly141Arg)	Inborn genetic diseases [RCV002990428]	uncertain significance	15	57192188	57192188	Human	1	name
156320698	CV2401469	deletion	NM_207037.2(TCF12):c.1991del (p.Asn664fs)	TCF12-related craniosynostosis [RCV002810043]	uncertain significance	15	57282456	57282456	Human	1	name , trait
243052818	CV2402943	single nucleotide variant	NM_207037.2(TCF12):c.457G>T (p.Gly153Trp)	Developmental delay [RCV003154084]	pathogenic	15	57192224	57192224	Human	2	name
243062903	CV2413995	single nucleotide variant	NM_207037.2(TCF12):c.370A>G (p.Thr124Ala)	not provided [RCV003140914]	uncertain significance	15	57166446	57166446	Human		name
329372883	CV2428695	single nucleotide variant	NM_207037.2(TCF12):c.584A>G (p.Tyr195Cys)	Inborn genetic diseases [RCV003184956]	uncertain significance	15	57231156	57231156	Human	1	name
329394982	CV2472994	single nucleotide variant	NM_207037.2(TCF12):c.634C>G (p.Pro212Ala)	not provided [RCV003218977]	uncertain significance	15	57231206	57231206	Human		name
329351076	CV2477905	single nucleotide variant	NM_207037.2(TCF12):c.461C>T (p.Thr154Ile)	not provided [RCV003224018]	uncertain significance	15	57192228	57192228	Human		name
329351131	CV2477942	single nucleotide variant	NM_207037.2(TCF12):c.835C>T (p.Pro279Ser)	not provided [RCV003224055]	uncertain significance	15	57232721	57232721	Human		name
11551519	CV255316	single nucleotide variant	NM_207037.2(TCF12):c.898G>A (p.Gly300Ser)	not provided [RCV001683148]\|not specified [RCV000253149]	benign	15	57232784	57232784	Human		name
401738986	CV2708272	single nucleotide variant	NM_207037.2(TCF12):c.368A>G (p.Asp123Gly)	Inborn genetic diseases [RCV003292005]\|not provided [RCV004696451]	uncertain significance	15	57166444	57166444	Human	1	name
401741238	CV2738803	single nucleotide variant	NM_207037.2(TCF12):c.478T>C (p.Ser160Pro)	not provided [RCV003318197]	uncertain significance	15	57192245	57192245	Human		name
401828713	CV2743048	single nucleotide variant	NM_207037.2(TCF12):c.675C>G (p.Phe225Leu)	not provided [RCV003325756]	uncertain significance	15	57231247	57231247	Human		name
401828124	CV2744494	single nucleotide variant	NM_207037.2(TCF12):c.356T>C (p.Leu119Pro)	not provided [RCV003327891]	uncertain significance	15	57166432	57166432	Human		name
401829210	CV2747283	single nucleotide variant	NM_207037.2(TCF12):c.734G>C (p.Ser245Thr)	not provided [RCV003328748]	uncertain significance	15	57232339	57232339	Human		name
401895113	CV2792710	single nucleotide variant	NM_207037.2(TCF12):c.341G>A (p.Arg114Lys)	Inborn genetic diseases [RCV003372108]	uncertain significance	15	57166417	57166417	Human	1	name
405717654	CV2852002	single nucleotide variant	NM_207037.2(TCF12):c.314C>A (p.Ser105Ter)	Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991630]	likely pathogenic	15	57091880	57091880	Human	1	name
405079902	CV2853468	single nucleotide variant	NM_207037.2(TCF12):c.784C>T (p.Gln262Ter)	TCF12-related craniosynostosis [RCV003581943]	likely pathogenic	15	57232389	57232389	Human	1	name , trait
405148097	CV2881811	duplication	NM_207037.2(TCF12):c.1382dup (p.Pro462fs)	not provided [RCV003561522]	pathogenic	15	57253380	57253381	Human		name
405112685	CV2900529	deletion	NM_207037.2(TCF12):c.1837del (p.Arg613fs)	not provided [RCV003558100]	pathogenic	15	57273121	57273121	Human		name
405241407	CV2901358	deletion	NM_207037.2(TCF12):c.1896del (p.Lys633fs)	not provided [RCV003557479]	pathogenic	15	57273180	57273180	Human		name
405269235	CV3187256	single nucleotide variant	NM_207037.2(TCF12):c.503C>T (p.Pro168Leu)	not provided [RCV003887340]	uncertain significance	15	57192270	57192270	Human		name
405263626	CV3189778	single nucleotide variant	NM_207037.2(TCF12):c.595C>G (p.Pro199Ala)	TCF12-related disorder [RCV003896827]	uncertain significance	15	57231167	57231167	Human		name , trait , alternate_id
405724657	CV3235003	duplication	NM_207037.2(TCF12):c.1879dup (p.Met627fs)	TCF12-related craniosynostosis [RCV004018028]	pathogenic	15	57273161	57273162	Human	1	name , trait
405746594	CV3331787	deletion	NM_207037.2(TCF12):c.1483del (p.Glu495fs)	Inborn genetic diseases [RCV004466418]	pathogenic	15	57262107	57262107	Human	1	name
405746576	CV3331789	duplication	NM_207037.2(TCF12):c.1540dup (p.Ser514fs)	Inborn genetic diseases [RCV004466420]	pathogenic	15	57262164	57262165	Human	1	name
405746554	CV3331792	single nucleotide variant	NM_207037.2(TCF12):c.696C>A (p.His232Gln)	Inborn genetic diseases [RCV004466423]	uncertain significance	15	57232301	57232301	Human	1	name
405746545	CV3331793	single nucleotide variant	NM_207037.2(TCF12):c.821G>A (p.Arg274His)	Inborn genetic diseases [RCV004466424]	uncertain significance	15	57232426	57232426	Human	1	name
405746290	CV3331794	single nucleotide variant	NM_207037.2(TCF12):c.960C>G (p.Asp320Glu)	Inborn genetic diseases [RCV004466425]	likely benign	15	57232846	57232846	Human	1	name
407512874	CV3485835	single nucleotide variant	NM_207037.2(TCF12):c.739C>T (p.Pro247Ser)	Inborn genetic diseases [RCV004673617]	uncertain significance	15	57232344	57232344	Human	1	name
408390153	CV3519224	single nucleotide variant	NM_207037.2(TCF12):c.458G>A (p.Gly153Glu)	not provided [RCV004762533]	uncertain significance	15	57192225	57192225	Human		name
408385417	CV3520148	single nucleotide variant	NM_207037.2(TCF12):c.617G>T (p.Arg206Leu)	not provided [RCV004759969]	uncertain significance	15	57231189	57231189	Human		name
408391798	CV3523420	single nucleotide variant	NM_207037.2(TCF12):c.706G>T (p.Asp236Tyr)	not provided [RCV004770794]	uncertain significance	15	57232311	57232311	Human		name
408381397	CV3523854	single nucleotide variant	NM_207037.2(TCF12):c.419T>C (p.Leu140Pro)	not provided [RCV004766252]	uncertain significance	15	57192186	57192186	Human		name
408390016	CV3524879	single nucleotide variant	NM_207037.2(TCF12):c.505C>T (p.Leu169Phe)	not provided [RCV004769774]	uncertain significance	15	57192272	57192272	Human		name
596923167	CV3530288	single nucleotide variant	NM_207037.2(TCF12):c.529C>A (p.Pro177Thr)	not provided [RCV004776887]	uncertain significance	15	57197775	57197775	Human		name
596929723	CV3531116	single nucleotide variant	NM_207037.2(TCF12):c.850C>T (p.Pro284Ser)	not provided [RCV004779690]	uncertain significance	15	57232736	57232736	Human		name
596931436	CV3531772	single nucleotide variant	NM_207037.2(TCF12):c.928G>C (p.Ala310Pro)	not provided [RCV004781334]	uncertain significance	15	57232814	57232814	Human		name
596925266	CV3541909	deletion	NM_207037.2(TCF12):c.1924del (p.Ile643fs)	TCF12-related craniosynostosis [RCV004795623]	likely pathogenic	15	57273207	57273207	Human	2	name , trait
597648850	CV3551671	deletion	NM_207037.2(TCF12):c.2077del (p.His693fs)	not provided [RCV004820384]	uncertain significance	15	57282541	57282541	Human		name
597648072	CV3551678	single nucleotide variant	NM_207037.2(TCF12):c.919T>C (p.Tyr307His)	not provided [RCV004820391]	uncertain significance	15	57232805	57232805	Human		name
597632223	CV3552803	single nucleotide variant	NM_207037.2(TCF12):c.677T>C (p.Phe226Ser)	not provided [RCV004823631]	uncertain significance	15	57231249	57231249	Human		name
597640602	CV3615699	single nucleotide variant	NM_207037.2(TCF12):c.391T>C (p.Ser131Pro)	Inborn genetic diseases [RCV004971444]	uncertain significance	15	57192158	57192158	Human	1	name
597640598	CV3615700	single nucleotide variant	NM_207037.2(TCF12):c.316A>G (p.Asn106Asp)	Inborn genetic diseases [RCV004971445]	likely benign	15	57091882	57091882	Human	1	name
597640594	CV3615701	single nucleotide variant	NM_207037.2(TCF12):c.298A>G (p.Thr100Ala)	Inborn genetic diseases [RCV004971446]	uncertain significance	15	57091864	57091864	Human	1	name
597640581	CV3615705	single nucleotide variant	NM_207037.2(TCF12):c.563C>T (p.Pro188Leu)	Inborn genetic diseases [RCV004971449]	uncertain significance	15	57197809	57197809	Human	1	name
597640577	CV3615706	single nucleotide variant	NM_207037.2(TCF12):c.377T>C (p.Leu126Ser)	Inborn genetic diseases [RCV004971450]	uncertain significance	15	57166453	57166453	Human	1	name
597640573	CV3615707	single nucleotide variant	NM_207037.2(TCF12):c.389A>G (p.Gln130Arg)	Inborn genetic diseases [RCV004971451]	uncertain significance	15	57166465	57166465	Human	1	name
597640570	CV3615708	single nucleotide variant	NM_207037.2(TCF12):c.708C>G (p.Asp236Glu)	Inborn genetic diseases [RCV004971452]	likely benign	15	57232313	57232313	Human	1	name
597905256	CV3738319	single nucleotide variant	NM_207037.2(TCF12):c.320T>C (p.Leu107Pro)	not provided [RCV005072741]	uncertain significance	15	57091886	57091886	Human		name
597888733	CV3739298	single nucleotide variant	NM_207037.2(TCF12):c.517G>A (p.Ala173Thr)	not provided [RCV005070845]	uncertain significance	15	57192284	57192284	Human		name
597888326	CV3839217	duplication	NM_207037.2(TCF12):c.1615dup (p.Thr539fs)	not provided [RCV005179303]	pathogenic	15	57263143	57263144	Human		name
597934444	CV3858785	deletion	NM_207037.2(TCF12):c.1763del (p.Glu588fs)	not provided [RCV005207255]	pathogenic	15	57273047	57273047	Human		name
598221094	CV3891890	single nucleotide variant	NM_207037.2(TCF12):c.314C>G (p.Ser105Ter)	TCF12-related craniosynostosis [RCV005253228]	likely pathogenic	15	57091880	57091880	Human	1	name , trait
598224167	CV3892048	deletion	NM_207037.2(TCF12):c.1713del (p.Asp572fs)	TCF12-related craniosynostosis [RCV005253387]	pathogenic	15	57263238	57263238	Human	1	name , trait
598199222	CV3892528	single nucleotide variant	NM_207037.2(TCF12):c.932C>G (p.Ser311Ter)	not provided [RCV005254361]	pathogenic	15	57232818	57232818	Human		name
598163517	CV3913204	deletion	NM_207037.2(TCF12):c.1806del (p.Arg602fs)	Inborn genetic diseases [RCV005283135]	pathogenic	15	57273089	57273089	Human	1	name
598163523	CV3913205	single nucleotide variant	NM_207037.2(TCF12):c.681G>A (p.Met227Ile)	Inborn genetic diseases [RCV005283136]	uncertain significance	15	57231253	57231253	Human	1	name
598178820	CV4008497	single nucleotide variant	NM_207037.2(TCF12):c.316A>C (p.Asn106His)	TCF12-related craniosynostosis [RCV005394016]	uncertain significance	15	57091882	57091882	Human	2	name , trait
617153525	CV4016621	duplication	NM_207037.2(TCF12):c.1143dup (p.Gln382fs)	not provided [RCV005415718]	pathogenic	15	57251375	57251376	Human		name
617154392	CV4022580	single nucleotide variant	NM_207037.2(TCF12):c.614A>G (p.Asn205Ser)	not provided [RCV005429937]	uncertain significance	15	57231186	57231186	Human		name
617154328	CV4022680	single nucleotide variant	NM_207037.2(TCF12):c.317A>G (p.Asn106Ser)	not provided [RCV005430038]	uncertain significance	15	57091883	57091883	Human		name
13216016	CV429707	single nucleotide variant	NM_207037.2(TCF12):c.919T>A (p.Tyr307Asn)	not specified [RCV000503208]	uncertain significance	15	57232805	57232805	Human		name
13509058	CV482073	single nucleotide variant	NM_207037.2(TCF12):c.812C>A (p.Ser271Ter)	TCF12-related craniosynostosis [RCV002286413]\|not provided [RCV000578877]	pathogenic\|likely pathogenic	15	57232417	57232417	Human	1	name , trait
13521551	CV495601	deletion	NM_207037.2(TCF12):c.2085del (p.Ser697fs)	not provided [RCV000599546]	uncertain significance	15	57282549	57282549	Human		name
15174068	CV679250	deletion	NM_207037.2(TCF12):c.1606del (p.Thr536fs)	Craniosynostosis syndrome [RCV000984625]	likely pathogenic	15	57263134	57263134	Human	2	name
8572530	CV70553	single nucleotide variant	NM_207037.2(TCF12):c.842C>G (p.Ser281Ter)	TCF12-related craniosynostosis [RCV000049324]\|not provided [RCV002272047]	pathogenic	15	57232728	57232728	Human	1	name , trait
8572531	CV70554	duplication	NM_207037.2(TCF12):c.1491dup (p.Val498fs)	HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA [RCV001818229]\|TCF12-related craniosynostosis [RCV000049325]\|not provided [RCV001569383]	pathogenic	15	57262116	57262117	Human	2	name , trait
8616671	CV70555	single nucleotide variant	NM_207037.2(TCF12):c.722C>G (p.Ser241Ter)	TCF12-related craniosynostosis [RCV000049326]	pathogenic	15	57232327	57232327	Human	1	name , trait
8572532	CV70556	deletion	NM_207037.2(TCF12):c.1646del (p.Lys549fs)	TCF12-related craniosynostosis [RCV000049327]	pathogenic	15	57263172	57263172	Human	1	name , trait
15139545	CV714502	single nucleotide variant	NM_207037.2(TCF12):c.521C>T (p.Ala174Val)	TCF12-related disorder [RCV003960774]\|not provided [RCV000965985]	benign\|likely benign	15	57192288	57192288	Human	1	name , trait , alternate_id
15119381	CV770248	single nucleotide variant	NM_207037.2(TCF12):c.339G>C (p.Glu113Asp)	TCF12-related disorder [RCV003903132]\|not provided [RCV000940176]	likely benign	15	57166415	57166415	Human	1	name , trait , alternate_id
21074631	CV797170	single nucleotide variant	NM_207037.2(TCF12):c.880A>G (p.Met294Val)	not provided [RCV000995362]	uncertain significance	15	57232766	57232766	Human		name
34891120	CV904602	single nucleotide variant	NM_207037.2(TCF12):c.950A>G (p.Asn317Ser)	not provided [RCV001171898]	uncertain significance	15	57232836	57232836	Human		name
40887887	CV973957	single nucleotide variant	NM_207037.2(TCF12):c.798T>G (p.Tyr266Ter)	Inborn genetic diseases [RCV001267439]\|TCF12-related disorder [RCV004731113]	pathogenic\|likely pathogenic	15	57232403	57232403	Human	2	name , trait , alternate_id
40903810	CV976404	single nucleotide variant	NM_207037.2(TCF12):c.446C>G (p.Ser149Ter)	not provided [RCV001269619]	likely pathogenic	15	57192213	57192213	Human		name
150408030	CV1182539	single nucleotide variant	NM_207037.2(TCF12):c.1807C>T (p.Arg603Trp)	Hypogonadotropic hypogonadism 26 with or without anosmia [RCV004762160]\|TCF12-related craniosynostosis [RCV001554341]\|not provided [RCV002282562]	likely pathogenic\|uncertain significance	15	57273091	57273091	Human	2	name , trait
150419157	CV1194954	single nucleotide variant	NM_207037.2(TCF12):c.1267C>T (p.Arg423Ter)	not provided [RCV001569556]	pathogenic\|likely pathogenic	15	57253268	57253268	Human		name
150546602	CV1291553	single nucleotide variant	NM_207037.2(TCF12):c.1882T>C (p.Cys628Arg)	not provided [RCV001733327]	pathogenic\|likely pathogenic	15	57273166	57273166	Human		name
150551162	CV1292535	single nucleotide variant	NM_207037.2(TCF12):c.2057C>T (p.Pro686Leu)	not provided [RCV001754142]	uncertain significance	15	57282523	57282523	Human		name
150556221	CV1296768	single nucleotide variant	NM_207037.2(TCF12):c.1315C>T (p.Arg439Trp)	not provided [RCV001774058]	uncertain significance	15	57253316	57253316	Human		name
150546008	CV1297095	single nucleotide variant	NM_207037.2(TCF12):c.1819A>G (p.Asn607Asp)	not provided [RCV001763386]	uncertain significance	15	57273103	57273103	Human		name
9832604	CV132729	single nucleotide variant	NM_207037.2(TCF12):c.1838G>A (p.Arg613His)	TCF12-related craniosynostosis [RCV000157617]\|not provided [RCV005000996]	pathogenic\|likely pathogenic	15	57273122	57273122	Human	1	name , trait
151730484	CV1441257	single nucleotide variant	NM_207037.2(TCF12):c.1444G>A (p.Ala482Thr)	not provided [RCV001945995]	uncertain significance	15	57253445	57253445	Human		name
151771461	CV1477617	single nucleotide variant	NM_207037.2(TCF12):c.1582G>A (p.Gly528Ser)	not provided [RCV001950194]	uncertain significance	15	57262208	57262208	Human		name
152028263	CV1586818	single nucleotide variant	NM_207037.2(TCF12):c.1445C>T (p.Ala482Val)	not provided [RCV002085408]	likely benign	15	57253446	57253446	Human		name
152056890	CV1670511	single nucleotide variant	NM_207037.2(TCF12):c.1127G>A (p.Trp376Ter)	not provided [RCV002226031]	pathogenic	15	57251362	57251362	Human		name
153000716	CV1683823	single nucleotide variant	NM_207037.2(TCF12):c.1196G>A (p.Arg399Gln)	not provided [RCV002254442]	uncertain significance	15	57252428	57252428	Human		name
155641666	CV1707091	single nucleotide variant	NM_207037.2(TCF12):c.1397C>T (p.Ala466Val)	not provided [RCV002288021]	uncertain significance	15	57253398	57253398	Human		name
155802791	CV1857778	single nucleotide variant	NM_207037.2(TCF12):c.1480C>G (p.Arg494Gly)	not provided [RCV002461627]	uncertain significance	15	57262106	57262106	Human		name
155800733	CV1863801	single nucleotide variant	NM_207037.2(TCF12):c.1982G>C (p.Arg661Thr)	not provided [RCV002474224]	uncertain significance	15	57282448	57282448	Human		name
156060197	CV1892319	single nucleotide variant	NM_207037.2(TCF12):c.1867G>T (p.Glu623Ter)	not provided [RCV003079197]	pathogenic	15	57273151	57273151	Human		name
156331477	CV2094837	single nucleotide variant	NM_207037.2(TCF12):c.1718T>C (p.Ile573Thr)	not provided [RCV002899950]	uncertain significance	15	57263247	57263247	Human		name
156359303	CV2183986	single nucleotide variant	NM_207037.2(TCF12):c.1862T>G (p.Phe621Cys)	not provided [RCV003048907]	uncertain significance	15	57273146	57273146	Human		name
156382622	CV2223565	single nucleotide variant	NM_207037.2(TCF12):c.1268G>A (p.Arg423Gln)	Inborn genetic diseases [RCV002722816]	uncertain significance	15	57253269	57253269	Human	1	name
156341842	CV2225937	single nucleotide variant	NM_207037.2(TCF12):c.1597C>G (p.Gln533Glu)	Inborn genetic diseases [RCV002719215]\|not provided [RCV004794614]	uncertain significance	15	57263126	57263126	Human	1	name
156103600	CV2260518	single nucleotide variant	NM_207037.2(TCF12):c.1774C>T (p.Pro592Ser)	Inborn genetic diseases [RCV002799278]	uncertain significance	15	57273058	57273058	Human	1	name
156241832	CV2265826	single nucleotide variant	NM_207037.2(TCF12):c.1732A>G (p.Arg578Gly)	Inborn genetic diseases [RCV002830571]	uncertain significance	15	57263261	57263261	Human	1	name
155948421	CV2272135	single nucleotide variant	NM_207037.2(TCF12):c.1820A>G (p.Asn607Ser)	Inborn genetic diseases [RCV002840099]	uncertain significance	15	57273104	57273104	Human	1	name
155924745	CV2358205	single nucleotide variant	NM_207037.2(TCF12):c.1415A>G (p.Asn472Ser)	Inborn genetic diseases [RCV002992454]\|not provided [RCV003720716]	likely benign\|uncertain significance	15	57253416	57253416	Human	1	name
243062904	CV2413996	single nucleotide variant	NM_207037.2(TCF12):c.1612G>A (p.Val538Ile)	not provided [RCV003140915]	uncertain significance	15	57263141	57263141	Human		name
243052222	CV2416113	single nucleotide variant	NM_207037.2(TCF12):c.1343G>A (p.Ser448Asn)	not provided [RCV003149173]	uncertain significance	15	57253344	57253344	Human		name
329354200	CV2437661	single nucleotide variant	NM_207037.2(TCF12):c.1234A>G (p.Met412Val)	Inborn genetic diseases [RCV003201998]	likely benign	15	57252466	57252466	Human	1	name
329402846	CV2451448	single nucleotide variant	NM_207037.2(TCF12):c.1457C>T (p.Ser486Leu)	Inborn genetic diseases [RCV003199740]	uncertain significance	15	57253458	57253458	Human	1	name
329377164	CV2457035	single nucleotide variant	NM_207037.2(TCF12):c.1581A>C (p.Arg527Ser)	Inborn genetic diseases [RCV003186286]	uncertain significance	15	57262207	57262207	Human	1	name
329382285	CV2465124	single nucleotide variant	NM_207037.2(TCF12):c.1270A>G (p.Met424Val)	Inborn genetic diseases [RCV003213342]	uncertain significance	15	57253271	57253271	Human	1	name
329350574	CV2477390	single nucleotide variant	NM_207037.2(TCF12):c.1850T>G (p.Ile617Ser)	not provided [RCV003221715]	uncertain significance	15	57273134	57273134	Human		name
329847935	CV2667554	single nucleotide variant	NM_207037.2(TCF12):c.1928T>A (p.Ile643Asn)	not provided [RCV003229121]	uncertain significance	15	57273212	57273212	Human		name
401720833	CV2702139	single nucleotide variant	NM_207037.2(TCF12):c.1498C>T (p.Leu500Phe)	Inborn genetic diseases [RCV003267376]	uncertain significance	15	57262124	57262124	Human	1	name
401763575	CV2714600	single nucleotide variant	NM_207037.2(TCF12):c.1296T>G (p.Asp432Glu)	Inborn genetic diseases [RCV003258254]	uncertain significance	15	57253297	57253297	Human	1	name
401796804	CV2739779	single nucleotide variant	NM_207037.2(TCF12):c.1750A>G (p.Thr584Ala)	not provided [RCV003319740]	uncertain significance	15	57273034	57273034	Human		name
401796254	CV2740460	single nucleotide variant	NM_207037.2(TCF12):c.1595G>A (p.Ser532Asn)	not provided [RCV003321130]	uncertain significance	15	57263124	57263124	Human		name
401799021	CV2741597	single nucleotide variant	NM_207037.2(TCF12):c.1226A>C (p.Gln409Pro)	TCF12-related disorder [RCV004731525]\|not provided [RCV003323005]	uncertain significance	15	57252458	57252458	Human	1	name , trait , alternate_id
401870976	CV2756530	single nucleotide variant	NM_207037.2(TCF12):c.2059A>G (p.Thr687Ala)	Inborn genetic diseases [RCV003361387]	likely benign	15	57282525	57282525	Human	1	name
401919243	CV2798212	single nucleotide variant	NM_207037.2(TCF12):c.1961T>C (p.Leu654Pro)	TCF12-related disorder [RCV003402233]	uncertain significance	15	57273245	57273245	Human		name , trait , alternate_id
401921297	CV2804522	single nucleotide variant	NM_207037.2(TCF12):c.1073C>G (p.Ser358Ter)	TCF12-related disorder [RCV003402907]	pathogenic	15	57243509	57243509	Human		name , trait , alternate_id
401901778	CV2804697	single nucleotide variant	NM_207037.2(TCF12):c.1758A>C (p.Glu586Asp)	TCF12-related disorder [RCV003393213]	uncertain significance	15	57273042	57273042	Human		name , trait , alternate_id
405717665	CV2852003	single nucleotide variant	NM_207037.2(TCF12):c.1597C>T (p.Gln533Ter)	Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991631]	likely pathogenic	15	57263126	57263126	Human	1	name
402476821	CV2857269	single nucleotide variant	NM_207037.2(TCF12):c.1589T>A (p.Leu530Ter)	not provided [RCV003543443]	pathogenic	15	57263118	57263118	Human		name
402491242	CV2866821	single nucleotide variant	NM_207037.2(TCF12):c.1780C>T (p.Gln594Ter)	not provided [RCV003573034]	pathogenic	15	57273064	57273064	Human		name
402496330	CV2883877	single nucleotide variant	NM_207037.2(TCF12):c.1838G>T (p.Arg613Leu)	not provided [RCV003573512]	uncertain significance	15	57273122	57273122	Human		name
402505328	CV2884413	single nucleotide variant	NM_207037.2(TCF12):c.1951A>T (p.Ile651Phe)	not provided [RCV003546305]	pathogenic	15	57273235	57273235	Human		name
405113855	CV2896581	single nucleotide variant	NM_207037.2(TCF12):c.1645A>T (p.Lys549Ter)	not provided [RCV003558254]	pathogenic	15	57263174	57263174	Human		name
405209652	CV2910226	single nucleotide variant	NM_207037.2(TCF12):c.1508A>G (p.Asn503Ser)	not provided [RCV003566980]	uncertain significance	15	57262134	57262134	Human		name
402474747	CV2915930	single nucleotide variant	NM_207037.2(TCF12):c.1927A>T (p.Ile643Phe)	not provided [RCV003571232]	uncertain significance	15	57273211	57273211	Human		name
405095448	CV2944011	single nucleotide variant	NM_207037.2(TCF12):c.1456T>C (p.Ser486Pro)	not provided [RCV003665608]	uncertain significance	15	57253457	57253457	Human		name
405040186	CV3013652	single nucleotide variant	NM_207037.2(TCF12):c.1936C>T (p.Gln646Ter)	not provided [RCV003696238]	pathogenic	15	57273220	57273220	Human		name
405112627	CV3118635	single nucleotide variant	NM_207037.2(TCF12):c.1316G>A (p.Arg439Gln)	not provided [RCV003813863]	uncertain significance	15	57253317	57253317	Human		name
405267421	CV3186828	single nucleotide variant	NM_207037.2(TCF12):c.1870C>T (p.Leu624Phe)	not provided [RCV003886909]	likely pathogenic	15	57273154	57273154	Human		name
405746620	CV3331784	single nucleotide variant	NM_207037.2(TCF12):c.1132A>G (p.Arg378Gly)	Inborn genetic diseases [RCV004466415]	uncertain significance	15	57251367	57251367	Human	1	name
405746611	CV3331785	single nucleotide variant	NM_207037.2(TCF12):c.1198G>A (p.Val400Ile)	Inborn genetic diseases [RCV004466416]	uncertain significance	15	57252430	57252430	Human	1	name
405746585	CV3331788	single nucleotide variant	NM_207037.2(TCF12):c.1502A>G (p.Asn501Ser)	Inborn genetic diseases [RCV004466419]	uncertain significance	15	57262128	57262128	Human	1	name
405746562	CV3331791	single nucleotide variant	NM_207037.2(TCF12):c.1666C>T (p.Pro556Ser)	Inborn genetic diseases [RCV004466422]	uncertain significance	15	57263195	57263195	Human	1	name
405853285	CV3392611	single nucleotide variant	NM_207037.2(TCF12):c.1449C>A (p.Ser483Arg)	not specified [RCV004526335]	uncertain significance	15	57253450	57253450	Human		name
407427521	CV3411926	single nucleotide variant	NM_207037.2(TCF12):c.2035T>C (p.Ser679Pro)	not provided [RCV004592097]	uncertain significance	15	57282501	57282501	Human		name
407427802	CV3412100	single nucleotide variant	NM_207037.2(TCF12):c.1843C>T (p.Arg615Trp)	not provided [RCV004592271]	uncertain significance	15	57273127	57273127	Human		name
407428055	CV3412322	single nucleotide variant	NM_207037.2(TCF12):c.1333C>A (p.Pro445Thr)	not provided [RCV004593490]	uncertain significance	15	57253334	57253334	Human		name
407429439	CV3413850	single nucleotide variant	NM_207037.2(TCF12):c.1952T>G (p.Ile651Ser)	TCF12-related craniosynostosis [RCV004595259]	uncertain significance	15	57273236	57273236	Human	1	name , trait
407512877	CV3485836	single nucleotide variant	NM_207037.2(TCF12):c.2041G>A (p.Val681Ile)	Inborn genetic diseases [RCV004673618]	uncertain significance	15	57282507	57282507	Human	1	name
407530757	CV3485837	single nucleotide variant	NM_207037.2(TCF12):c.1760A>G (p.Asp587Gly)	Inborn genetic diseases [RCV004682073]	uncertain significance	15	57273044	57273044	Human	1	name
407530759	CV3485838	single nucleotide variant	NM_207037.2(TCF12):c.1705T>C (p.Ser569Pro)	Inborn genetic diseases [RCV004682074]	uncertain significance	15	57263234	57263234	Human	1	name
407530760	CV3485839	single nucleotide variant	NM_207037.2(TCF12):c.1816A>T (p.Asn606Tyr)	Inborn genetic diseases [RCV004682075]	uncertain significance	15	57273100	57273100	Human	1	name
408380623	CV3501645	single nucleotide variant	NM_207037.2(TCF12):c.1277A>T (p.Asp426Val)	not provided [RCV004729173]	uncertain significance	15	57253278	57253278	Human		name
408373590	CV3502290	single nucleotide variant	NM_207037.2(TCF12):c.1252G>A (p.Val418Ile)	not provided [RCV004725877]	uncertain significance	15	57252484	57252484	Human		name
408377800	CV3503130	single nucleotide variant	NM_207037.2(TCF12):c.1948G>C (p.Val650Leu)	not provided [RCV004727701]	uncertain significance	15	57273232	57273232	Human		name
408377947	CV3503180	single nucleotide variant	NM_207037.2(TCF12):c.1094G>A (p.Gly365Glu)	not provided [RCV004727751]	uncertain significance	15	57243530	57243530	Human		name
408377950	CV3503181	single nucleotide variant	NM_207037.2(TCF12):c.1099C>T (p.Pro367Ser)	not provided [RCV004727752]	uncertain significance	15	57243535	57243535	Human		name
408384203	CV3520047	single nucleotide variant	NM_207037.2(TCF12):c.1016T>C (p.Leu339Pro)	not provided [RCV004759868]	uncertain significance	15	57234088	57234088	Human		name
408385480	CV3520194	single nucleotide variant	NM_207037.2(TCF12):c.1297G>T (p.Asp433Tyr)	not provided [RCV004760015]	uncertain significance	15	57253298	57253298	Human		name
408389047	CV3522876	single nucleotide variant	NM_207037.2(TCF12):c.1139G>T (p.Gly380Val)	not provided [RCV004769257]	uncertain significance	15	57251374	57251374	Human		name
408391379	CV3523168	single nucleotide variant	NM_207037.2(TCF12):c.1983G>C (p.Arg661Ser)	not provided [RCV004770540]	uncertain significance	15	57282449	57282449	Human		name
408381990	CV3524068	single nucleotide variant	NM_207037.2(TCF12):c.1287C>G (p.Asp429Glu)	not provided [RCV004766466]	uncertain significance	15	57253288	57253288	Human		name
408387155	CV3524421	single nucleotide variant	NM_207037.2(TCF12):c.1361G>A (p.Ser454Asn)	not provided [RCV004768295]	uncertain significance	15	57253362	57253362	Human		name
408393569	CV3526361	single nucleotide variant	NM_207037.2(TCF12):c.1832G>A (p.Arg611His)	TCF12-related craniosynostosis [RCV004771793]	likely pathogenic	15	57273116	57273116	Human	1	name , trait
408381870	CV3526628	single nucleotide variant	NM_207037.2(TCF12):c.1795G>C (p.Glu599Gln)	not provided [RCV004771941]	uncertain significance	15	57273079	57273079	Human		name
408392508	CV3528157	single nucleotide variant	NM_207037.2(TCF12):c.1619C>G (p.Thr540Arg)	not provided [RCV004775925]	uncertain significance	15	57263148	57263148	Human		name
408393143	CV3528375	single nucleotide variant	NM_207037.2(TCF12):c.1523C>A (p.Ser508Tyr)	not provided [RCV004776143]	uncertain significance	15	57262149	57262149	Human		name
596920569	CV3534043	single nucleotide variant	NM_207037.2(TCF12):c.1163G>T (p.Ser388Ile)	not specified [RCV004783261]	uncertain significance	15	57251398	57251398	Human		name
596921365	CV3534986	single nucleotide variant	NM_207037.2(TCF12):c.1412T>G (p.Leu471Arg)	not provided [RCV004784544]	uncertain significance	15	57253413	57253413	Human		name
596928443	CV3541492	single nucleotide variant	NM_207037.2(TCF12):c.1223T>A (p.Leu408Ter)	TCF12-related craniosynostosis [RCV004797364]	pathogenic	15	57252455	57252455	Human	1	name , trait
596943476	CV3542952	single nucleotide variant	NM_207037.2(TCF12):c.1357C>T (p.His453Tyr)	not provided [RCV004798537]	uncertain significance	15	57253358	57253358	Human		name
596944864	CV3543536	single nucleotide variant	NM_207037.2(TCF12):c.1578T>G (p.Tyr526Ter)	not provided [RCV004801658]	pathogenic	15	57262204	57262204	Human		name
596944929	CV3543583	single nucleotide variant	NM_207037.2(TCF12):c.1264T>C (p.Ser422Pro)	not provided [RCV004801705]	uncertain significance	15	57253265	57253265	Human		name
596938633	CV3549685	single nucleotide variant	NM_207037.2(TCF12):c.1208A>T (p.Gln403Leu)	not provided [RCV004812725]	uncertain significance	15	57252440	57252440	Human		name
12741758	CV361215	single nucleotide variant	NM_207037.2(TCF12):c.1720A>C (p.Lys574Gln)	TCF12-related craniosynostosis [RCV000415058]	uncertain significance	15	57263249	57263249	Human	1	name , trait
12739044	CV361216	single nucleotide variant	NM_207037.2(TCF12):c.1876C>T (p.Arg626Ter)	TCF12-related craniosynostosis [RCV000415362]\|not provided [RCV001861454]	pathogenic	15	57273160	57273160	Human	1	name , trait
597640589	CV3615703	single nucleotide variant	NM_207037.2(TCF12):c.1186C>G (p.Leu396Val)	Inborn genetic diseases [RCV004971447]	uncertain significance	15	57251421	57251421	Human	1	name
12848757	CV363864	single nucleotide variant	NM_207037.2(TCF12):c.1520T>G (p.Leu507Arg)	not provided [RCV000417638]	benign\|likely benign	15	57262146	57262146	Human		name
597632159	CV3704093	single nucleotide variant	NM_207037.2(TCF12):c.1376T>A (p.Leu459Ter)	TCF12-related craniosynostosis [RCV005003115]	likely pathogenic	15	57253377	57253377	Human	2	name , trait
597715197	CV3733171	single nucleotide variant	NM_207037.2(TCF12):c.1885C>G (p.Gln629Glu)	not provided [RCV005052360]	uncertain significance	15	57273169	57273169	Human		name
597927571	CV3783485	single nucleotide variant	NM_207037.2(TCF12):c.1168G>A (p.Glu390Lys)	not provided [RCV005116172]	uncertain significance	15	57251403	57251403	Human		name
597931157	CV3837663	single nucleotide variant	NM_207037.2(TCF12):c.1537A>T (p.Thr513Ser)	not provided [RCV005185823]	uncertain significance	15	57262163	57262163	Human		name
597924500	CV3840422	single nucleotide variant	NM_207037.2(TCF12):c.1549G>C (p.Asp517His)	not provided [RCV005184891]	uncertain significance	15	57262175	57262175	Human		name
597913870	CV3851057	duplication	NM_207037.2(TCF12):c.1815dup (p.Asn606Ter)	not provided [RCV005204025]	pathogenic	15	57273098	57273099	Human		name
597845465	CV3880435	single nucleotide variant	NM_207037.2(TCF12):c.1925T>C (p.Leu642Pro)	not provided [RCV005227323]	uncertain significance	15	57273209	57273209	Human		name
597861395	CV3880878	single nucleotide variant	NM_207037.2(TCF12):c.1727C>A (p.Ser576Ter)	TCF12-related craniosynostosis [RCV005229706]	likely pathogenic	15	57263256	57263256	Human	2	name , trait
598124536	CV3883581	single nucleotide variant	NM_207037.2(TCF12):c.1129C>A (p.Pro377Thr)	not provided [RCV005235935]	uncertain significance	15	57251364	57251364	Human		name
598124683	CV3883640	single nucleotide variant	NM_207037.2(TCF12):c.1309G>A (p.Val437Met)	not provided [RCV005235994]	uncertain significance	15	57253310	57253310	Human		name
598125876	CV3885961	single nucleotide variant	NM_207037.2(TCF12):c.2024A>C (p.Glu675Ala)	not provided [RCV005241764]	uncertain significance	15	57282490	57282490	Human		name
598238758	CV3893301	single nucleotide variant	NM_207037.2(TCF12):c.1832G>T (p.Arg611Leu)	not provided [RCV005256034]	uncertain significance	15	57273116	57273116	Human		name
598163512	CV3913203	single nucleotide variant	NM_207037.2(TCF12):c.1303A>G (p.Ile435Val)	Inborn genetic diseases [RCV005283134]	uncertain significance	15	57253304	57253304	Human	1	name
598209320	CV3913206	single nucleotide variant	NM_207037.2(TCF12):c.1580G>A (p.Arg527Lys)	Inborn genetic diseases [RCV005291672]	uncertain significance	15	57262206	57262206	Human	1	name
616939675	CV4014172	single nucleotide variant	NM_207037.2(TCF12):c.1162A>G (p.Ser388Gly)	not provided [RCV005413664]	uncertain significance	15	57251397	57251397	Human		name
616937689	CV4014861	single nucleotide variant	NM_207037.2(TCF12):c.1078C>G (p.Pro360Ala)	not provided [RCV005411877]	uncertain significance	15	57243514	57243514	Human		name
616939035	CV4015362	single nucleotide variant	NM_207037.2(TCF12):c.1799A>C (p.Lys600Thr)	not provided [RCV005412873]	uncertain significance	15	57273083	57273083	Human		name
617153538	CV4016629	single nucleotide variant	NM_207037.2(TCF12):c.1344T>A (p.Ser448Arg)	not provided [RCV005415726]	uncertain significance	15	57253345	57253345	Human		name
617153624	CV4016698	single nucleotide variant	NM_207037.2(TCF12):c.1896G>C (p.Leu632Phe)	not provided [RCV005415795]	uncertain significance	15	57273180	57273180	Human		name
617150490	CV4018971	single nucleotide variant	NM_207037.2(TCF12):c.1986C>A (p.Asn662Lys)	not provided [RCV005423379]	uncertain significance	15	57282452	57282452	Human		name
617150435	CV4018997	single nucleotide variant	NM_207037.2(TCF12):c.1114G>A (p.Gly372Ser)	not provided [RCV005423405]	uncertain significance	15	57243550	57243550	Human		name
13482411	CV445392	single nucleotide variant	NM_207037.2(TCF12):c.1540T>G (p.Ser514Ala)	not provided [RCV000521775]	uncertain significance	15	57262166	57262166	Human		name
13509221	CV482074	single nucleotide variant	NM_207037.2(TCF12):c.1128G>A (p.Trp376Ter)	TCF12-related craniosynostosis [RCV000845025]\|not provided [RCV000579226]	pathogenic\|likely pathogenic\|not provided	15	57251363	57251363	Human	1	name , trait
13533096	CV512149	single nucleotide variant	NM_207037.2(TCF12):c.1865A>G (p.Lys622Arg)	Inborn genetic diseases [RCV000624866]	uncertain significance	15	57273149	57273149	Human	1	name
14746764	CV672096	single nucleotide variant	NM_207037.2(TCF12):c.2006G>T (p.Cys669Phe)	not provided [RCV000844962]	not provided	15	57282472	57282472	Human		name
8572533	CV70557	single nucleotide variant	NM_207037.2(TCF12):c.1963G>T (p.Glu655Ter)	TCF12-related craniosynostosis [RCV000049328]	pathogenic	15	57273247	57273247	Human	1	name , trait
8572535	CV70559	single nucleotide variant	NM_207037.2(TCF12):c.1912C>G (p.Gln638Glu)	TCF12-related craniosynostosis [RCV000049330]	pathogenic	15	57273196	57273196	Human	1	name , trait
15196312	CV726148	single nucleotide variant	NM_207037.2(TCF12):c.1465A>G (p.Met489Val)	not provided [RCV000889742]	likely benign\|conflicting interpretations of pathogenicity	15	57253466	57253466	Human		name
21074632	CV797171	single nucleotide variant	NM_207037.2(TCF12):c.1831C>T (p.Arg611Cys)	not provided [RCV000995363]	uncertain significance	15	57273115	57273115	Human		name
28879688	CV860173	single nucleotide variant	NM_207037.2(TCF12):c.1453C>T (p.Arg485Ter)	Autism spectrum disorder [RCV005410925]\|not provided [RCV001090832]	pathogenic	15	57253454	57253454	Human	2	name
38460119	CV919583	single nucleotide variant	NM_207037.2(TCF12):c.1541C>A (p.Ser514Ter)	TCF12-related craniosynostosis [RCV001196018]\|not provided [RCV003660868]	pathogenic	15	57262167	57262167	Human	1	name , trait
40814859	CV971022	single nucleotide variant	NM_207037.2(TCF12):c.1837C>T (p.Arg613Cys)	TCF12-related craniosynostosis [RCV001262323]\|TCF12-related disorder [RCV003416138]\|not provided [RCV001773577]	likely pathogenic\|uncertain significance	15	57273121	57273121	Human	1	name , trait , alternate_id
40903320	CV975868	single nucleotide variant	NM_207037.2(TCF12):c.1808G>A (p.Arg603Gln)	TCF12-related craniosynostosis [RCV001269305]\|not provided [RCV002225821]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	15	57273092	57273092	Human	1	name , trait
126743703	CV996322	single nucleotide variant	NM_207037.2(TCF12):c.2068C>T (p.Pro690Ser)	TCF12-related craniosynostosis [RCV001810018]\|not provided [RCV001296230]	uncertain significance	15	57282534	57282534	Human	1	name , trait
150478862	CV1207740	duplication	NM_207037.2(TCF12):c.580-11415_580-11414dup	not provided [RCV001590016]	likely benign	15	57219720	57219721	Human		name
598201944	CV3891239	deletion	NM_207037.2(TCF12):c.780_781del (p.Met260fs)	TCF12-related craniosynostosis [RCV005255058]	likely pathogenic	15	57232384	57232385	Human	1	name , trait
13520875	CV495593	microsatellite	NM_207037.2(TCF12):c.584_585del (p.Tyr195fs)	not provided [RCV000598993]	likely pathogenic	15	57231153	57231154	Human		name
13611559	CV514678	deletion	NM_207037.2(TCF12):c.548_551del (p.Val183fs)	not provided [RCV000627557]	likely pathogenic	15	57197792	57197795	Human		name
28879679	CV860172	deletion	NM_207037.2(TCF12):c.778_779del (p.Met260fs)	TCF12-related craniosynostosis [RCV001263208]\|not provided [RCV001090831]	pathogenic\|likely pathogenic	15	57232383	57232384	Human	1	name , trait
9832601	CV132726	microsatellite	NM_207037.2(TCF12):c.1000_1001del (p.Gln334fs)	TCF12-related craniosynostosis [RCV000157614]	pathogenic	15	57234070	57234071	Human		name , trait
151732396	CV1336358	deletion	NM_207037.2(TCF12):c.1643_1647del (p.Glu548fs)	Craniosynostosis syndrome [RCV001849585]\|not provided [RCV003660909]	pathogenic	15	57263168	57263172	Human	2	name
156132823	CV2182247	microsatellite	NM_207037.2(TCF12):c.1804_1805del (p.Arg602fs)	not provided [RCV003055901]	pathogenic	15	57273085	57273086	Human		name
243062627	CV2405080	deletion	NM_207037.2(TCF12):c.1621_1622del (p.Glu541fs)	Hypogonadotropic hypogonadism 26 with or without anosmia [RCV003140630]	likely pathogenic	15	57263149	57263150	Human	1	name
401876018	CV2750175	microsatellite	NM_207037.2(TCF12):c.1490_1491del (p.Ser497fs)	Hypogonadotropic hypogonadism 26 with or without anosmia [RCV003333623]	likely pathogenic	15	57262114	57262115	Human		name
405213301	CV2918311	deletion	NM_207037.2(TCF12):c.1593_1594del (p.Gln533fs)	not provided [RCV003567438]	pathogenic	15	57263121	57263122	Human		name
407429442	CV3413853	duplication	NM_207037.2(TCF12):c.1054_1055dup (p.Ser353fs)	TCF12-related craniosynostosis [RCV004595262]	pathogenic	15	57243489	57243490	Human	1	name , trait
12850024	CV363977	microsatellite	NM_207037.2(TCF12):c.1490_1491dup (p.Val498fs)	not provided [RCV000440265]	pathogenic	15	57262113	57262114	Human		name
597861396	CV3850773	duplication	NM_207037.2(TCF12):c.1805_1806dup (p.Arg603fs)	not provided [RCV005195906]	pathogenic	15	57273088	57273089	Human		name
13217103	CV429708	deletion	NM_207037.2(TCF12):c.1642_1645del (p.Glu548fs)	Autism spectrum disorder [RCV005410905]\|TCF12-related craniosynostosis [RCV000499549]\|not provided [RCV001857176]	pathogenic	15	57263168	57263171	Human	3	name , trait
40887942	CV973037	deletion	NM_207037.2(TCF12):c.1907_1908del (p.Lys636fs)	TCF12-related craniosynostosis [RCV001265590]	pathogenic	15	57273188	57273189	Human	1	name , trait
156067554	CV2167030	insertion	NM_207037.2(TCF12):c.1180_1181insG (p.His394fs)	not provided [RCV003019937]	pathogenic	15	57251415	57251416	Human		name
405095596	CV2874918	insertion	NM_207037.2(TCF12):c.1282_1283insGG (p.Leu428fs)	not provided [RCV003550237]	pathogenic	15	57253283	57253284	Human		name
596925482	CV3541982	insertion	NM_207037.2(TCF12):c.743_744insGTCCG (p.Phe249fs)	TCF12-related craniosynostosis [RCV004795696]	likely pathogenic	15	57232347	57232348	Human	1	name , trait
153000711	CV1683822	indel	NM_207037.2(TCF12):c.707_710delinsCCC (p.Asp236fs)	not provided [RCV002254441]	pathogenic	15	57232312	57232315	Human		name
401732120	CV2736669	deletion	NM_207037.2(TCF12):c.595_600del (p.Pro199_Asn200del)	not provided [RCV003313431]	uncertain significance	15	57231167	57231172	Human		name
15174065	CV679251	deletion	NM_207037.2(TCF12):c.1769del (p.Asp589_Leu590insTer)	Craniosynostosis syndrome [RCV000984624]	likely pathogenic	15	57273051	57273051	Human	2	name
408388045	CV3527330	duplication	NM_207037.2(TCF12):c.798_800dup (p.Gly267_Asn268insGly)	not provided [RCV004773632]	uncertain significance	15	57232402	57232403	Human		name
596928796	CV3540563	duplication	NM_207037.2(TCF12):c.1254_1257dup (p.Glu420delinsLeuTer)	not provided [RCV004794891]	likely pathogenic	15	57252482	57252483	Human		name
401923336	CV2803175	deletion	NM_207037.2(TCF12):c.1369_1370del (p.Ile456_His457insTer)	TCF12-related disorder [RCV003404397]	likely pathogenic	15	57253369	57253370	Human		name , trait , alternate_id
153000708	CV1683821	deletion	NM_207037.2(TCF12):c.1703_1711del (p.Ser568_Lys571delinsTer)	not provided [RCV002254440]	pathogenic	15	57263232	57263240	Human		name

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