Tbce Variant Search Result - Rat Genome Database

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631 records found for search term Tbce

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11633595	CV279610	single nucleotide variant	NM_003193.5(TBCE):c.-68G>C	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000350597]	uncertain significance	1	235367468	235367468	Human	1	name
11647922	CV279868	single nucleotide variant	NM_003193.5(TBCE):c.-92C>G	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000279264]	uncertain significance	1	235367444	235367444	Human	1	name
11634010	CV279869	single nucleotide variant	NM_003193.5(TBCE):c.-49T>C	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000390069]\|not provided [RCV001753753]	benign\|likely benign	1	235367487	235367487	Human	1	name
11633843	CV281257	single nucleotide variant	NM_003193.5(TBCE):c.-93T>A	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000371904]	likely benign	1	235367443	235367443	Human	1	name
28889771	CV863916	single nucleotide variant	NM_003193.5(TBCE):c.*17T>C	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001099551]	uncertain significance	1	235448779	235448779	Human	1	name
28889773	CV863917	single nucleotide variant	NM_003193.5(TBCE):c.*39G>A	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001099552]	uncertain significance	1	235448801	235448801	Human	1	name
11655392	CV279645	single nucleotide variant	NM_003193.5(TBCE):c.*177T>C	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000325582]	uncertain significance	1	235448939	235448939	Human	1	name
11633967	CV281244	single nucleotide variant	NM_003193.5(TBCE):c.*108A>G	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000383617]	likely benign\|uncertain significance	1	235448870	235448870	Human	1	name
11632830	CV281245	single nucleotide variant	NM_003193.5(TBCE):c.*142T>A	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000291613]\|not provided [RCV001598646]	benign	1	235448904	235448904	Human	1	name
28889779	CV863918	single nucleotide variant	NM_003193.5(TBCE):c.*132A>G	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001099553]	uncertain significance	1	235448894	235448894	Human	1	name
28894758	CV863919	single nucleotide variant	NM_003193.5(TBCE):c.*133T>G	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001101528]	uncertain significance	1	235448895	235448895	Human	1	name
28894762	CV865139	single nucleotide variant	NM_003193.5(TBCE):c.*208G>A	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001101529]	uncertain significance	1	235448970	235448970	Human	1	name
150516278	CV1287281	single nucleotide variant	NM_003193.5(TBCE):c.101-1G>C	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV005005995]\|not provided [RCV001723273]	pathogenic\|likely pathogenic	1	235401502	235401502	Human	1	name
150545125	CV1315432	single nucleotide variant	NM_003193.5(TBCE):c.899-2A>G	not provided [RCV001783849]	likely pathogenic	1	235436542	235436542	Human		name
151348372	CV1324013	single nucleotide variant	NM_003193.5(TBCE):c.737+1G>A	Encephalopathy, progressive, with amyotrophy and optic atrophy [RCV001807925]	likely pathogenic	1	235434281	235434281	Human	1	name
151840654	CV1345928	single nucleotide variant	NM_003193.5(TBCE):c.738-3C>T	Inborn genetic diseases [RCV002552915]\|not provided [RCV001902796]	uncertain significance	1	235435742	235435742	Human	1	name
151833532	CV1416597	single nucleotide variant	NM_003193.5(TBCE):c.898+6T>C	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV002484782]\|not provided [RCV002014542]	uncertain significance	1	235436456	235436456	Human	1	name
151755428	CV1417744	single nucleotide variant	NM_003193.5(TBCE):c.101-2A>G	Inborn genetic diseases [RCV002551045]\|not provided [RCV001894751]	likely pathogenic\|uncertain significance	1	235401501	235401501	Human	1	name
10047653	CV190816	single nucleotide variant	NM_003193.5(TBCE):c.898+5A>T	not provided [RCV000959529]\|not specified [RCV000173772]	likely benign\|conflicting interpretations of pathogenicity	1	235436455	235436455	Human		name
156018441	CV1909287	single nucleotide variant	NM_003193.5(TBCE):c.898+5A>G	Inborn genetic diseases [RCV004963468]\|TBCE-related disorder [RCV004738683]\|not provided [RCV002619268]	likely benign\|uncertain significance	1	235436455	235436455	Human	1	name , trait , alternate_id
10053422	CV196243	single nucleotide variant	NM_003193.5(TBCE):c.833+8G>T	not provided [RCV000180591]	conflicting interpretations of pathogenicity\|uncertain significance	1	235435848	235435848	Human		name
156085891	CV2060521	single nucleotide variant	NM_003193.5(TBCE):c.460+3A>G	not provided [RCV002824010]	uncertain significance	1	235419564	235419564	Human		name
11632480	CV281275	single nucleotide variant	NM_003193.5(TBCE):c.560+5G>A	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000259893]\|not provided [RCV001517610]	benign	1	235427244	235427244	Human	1	name
405136511	CV2907023	duplication	NM_003193.5(TBCE):c.372-8dup	not provided [RCV003560493]	benign	1	235419460	235419461	Human		name
402467271	CV2910301	single nucleotide variant	NM_003193.5(TBCE):c.371+2T>A	not provided [RCV003569573]	likely pathogenic	1	235414620	235414620	Human		name
405115142	CV2956861	single nucleotide variant	NM_003193.5(TBCE):c.371+1G>A	not provided [RCV003666754]	likely pathogenic	1	235414619	235414619	Human		name
402488462	CV2987720	single nucleotide variant	NM_003193.5(TBCE):c.661-9C>G	not provided [RCV003713535]	likely benign	1	235434195	235434195	Human		name
405248350	CV2990268	single nucleotide variant	NM_003193.5(TBCE):c.186-4C>T	not provided [RCV003685953]	likely benign	1	235414429	235414429	Human		name
402517556	CV2992355	single nucleotide variant	NM_003193.5(TBCE):c.372-6A>G	not provided [RCV003690047]	likely benign	1	235419467	235419467	Human		name
405014086	CV2994344	single nucleotide variant	NM_003193.5(TBCE):c.834-9G>A	not provided [RCV003694235]	likely benign	1	235436377	235436377	Human		name
402490908	CV3011858	single nucleotide variant	NM_003193.5(TBCE):c.899-7T>G	not provided [RCV003687523]	likely benign	1	235436537	235436537	Human		name
405115493	CV3019402	single nucleotide variant	NM_003193.5(TBCE):c.372-5T>C	not provided [RCV003700196]	likely benign	1	235419468	235419468	Human		name
405093563	CV3022639	single nucleotide variant	NM_003193.5(TBCE):c.186-2A>G	not provided [RCV003699907]	likely pathogenic	1	235414431	235414431	Human		name
405210078	CV3062208	single nucleotide variant	NM_003193.5(TBCE):c.101-7C>T	not provided [RCV003731878]	likely benign	1	235401496	235401496	Human		name
597714295	CV3715735	single nucleotide variant	NM_003193.5(TBCE):c.185+1G>C	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV005010066]	likely pathogenic	1	235401588	235401588	Human	1	name
597714355	CV3715762	single nucleotide variant	NM_003193.5(TBCE):c.561-2A>G	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV005010071]	likely pathogenic	1	235430703	235430703	Human	1	name
597944643	CV3776649	single nucleotide variant	NM_003193.5(TBCE):c.738-8C>T	not provided [RCV005119505]	likely benign	1	235435737	235435737	Human		name
597941210	CV3785737	single nucleotide variant	NM_003193.5(TBCE):c.661-7C>T	not provided [RCV005133629]	likely benign	1	235434197	235434197	Human		name
13835536	CV586796	single nucleotide variant	NM_003193.5(TBCE):c.100+6C>T	TBCE-related disorder [RCV004547930]\|not provided [RCV000731368]	likely benign\|uncertain significance	1	235380155	235380155	Human		name , trait , alternate_id
14692960	CV620715	single nucleotide variant	NM_003193.5(TBCE):c.100+1G>A	Autosomal recessive Kenny-Caffey syndrome [RCV001198592]\|Disorder of sexual differentiation [RCV001568319]\|Hypoparathyroidism-retardation-dysmorphism syndrome [RCV005021158]\|TBCE-related disorder [RCV004549847]\|not provided [RCV001322455]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	1	235380150	235380150	Human	4	name , trait , alternate_id
15143913	CV743737	single nucleotide variant	NM_003193.5(TBCE):c.101-5G>A	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001099436]\|not provided [RCV000899916]\|not specified [RCV001701353]	benign\|likely benign	1	235401498	235401498	Human	1	name
15145915	CV758884	single nucleotide variant	NM_003193.5(TBCE):c.560+8C>T	not provided [RCV000922626]	likely benign	1	235427247	235427247	Human		name
28878645	CV865136	single nucleotide variant	NM_003193.5(TBCE):c.963+8C>G	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001095972]\|not provided [RCV002557975]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	235436616	235436616	Human	1	name
126767529	CV1023045	single nucleotide variant	NM_003193.5(TBCE):c.1117-9T>G	not provided [RCV001342857]	uncertain significance	1	235438760	235438760	Human		name
150331620	CV1163390	duplication	NM_003193.5(TBCE):c.-31-55dup	not provided [RCV001527878]	benign	1	235379947	235379948	Human		name
150415288	CV1175859	single nucleotide variant	NM_003193.5(TBCE):c.964-32C>T	not provided [RCV001548510]	likely benign	1	235437290	235437290	Human		name
150515953	CV1216388	single nucleotide variant	NM_003193.5(TBCE):c.185+22G>T	not provided [RCV001608579]	benign	1	235401609	235401609	Human		name
150436470	CV1221846	single nucleotide variant	NM_003193.5(TBCE):c.660+63A>G	not provided [RCV001609538]	benign	1	235430867	235430867	Human		name
150472057	CV1252184	single nucleotide variant	NM_003193.5(TBCE):c.834-77T>G	not provided [RCV001671385]	benign	1	235436309	235436309	Human		name
150465973	CV1257281	single nucleotide variant	NM_003193.5(TBCE):c.738-87C>T	not provided [RCV001670296]	benign	1	235435658	235435658	Human		name
150491457	CV1267778	single nucleotide variant	NM_003193.5(TBCE):c.460+48T>G	not provided [RCV001687803]	benign	1	235419609	235419609	Human		name
150467370	CV1277559	single nucleotide variant	NM_003193.5(TBCE):c.964-47G>A	not provided [RCV001710854]	benign	1	235437275	235437275	Human		name
152073903	CV1520809	single nucleotide variant	NM_003193.5(TBCE):c.738-19A>G	not provided [RCV002075469]	likely benign	1	235435726	235435726	Human		name
152076030	CV1528421	single nucleotide variant	NM_003193.5(TBCE):c.834-20T>C	not provided [RCV002112116]	likely benign	1	235436366	235436366	Human		name
152067513	CV1529340	single nucleotide variant	NM_003193.5(TBCE):c.964-11C>T	not provided [RCV002168865]	likely benign	1	235437311	235437311	Human		name
152050691	CV1552694	single nucleotide variant	NM_003193.5(TBCE):c.899-17C>T	not provided [RCV002145655]	likely benign	1	235436527	235436527	Human		name
152110057	CV1563967	deletion	NM_003193.5(TBCE):c.660+16del	not provided [RCV002174215]	likely benign	1	235430818	235430818	Human		name
152125798	CV1565658	single nucleotide variant	NM_003193.5(TBCE):c.460+15G>T	not provided [RCV002136295]	likely benign	1	235419576	235419576	Human		name
152123036	CV1587184	single nucleotide variant	NM_003193.5(TBCE):c.833+14A>G	not provided [RCV002135956]	likely benign	1	235435854	235435854	Human		name
152051558	CV1596972	single nucleotide variant	NM_003193.5(TBCE):c.372-10T>C	not provided [RCV002166943]	likely benign	1	235419463	235419463	Human		name
152059429	CV1597613	single nucleotide variant	NM_003193.5(TBCE):c.1270+8C>T	not provided [RCV002128165]	likely benign	1	235438930	235438930	Human		name
152105902	CV1612682	single nucleotide variant	NM_003193.5(TBCE):c.1270+7G>C	not provided [RCV002173711]	likely benign	1	235438929	235438929	Human		name
152146557	CV1615375	single nucleotide variant	NM_003193.5(TBCE):c.100+19T>G	not provided [RCV002101564]	likely benign	1	235380168	235380168	Human		name
152147946	CV1618799	single nucleotide variant	NM_003193.5(TBCE):c.1117-7A>G	not provided [RCV002121343]	likely benign	1	235438762	235438762	Human		name
152057140	CV1647378	single nucleotide variant	NM_003193.5(TBCE):c.460+20C>A	not provided [RCV002208230]	likely benign	1	235419581	235419581	Human		name
152084607	CV1663056	single nucleotide variant	NM_003193.5(TBCE):c.100+17T>G	not provided [RCV002170998]	likely benign	1	235380166	235380166	Human		name
152124046	CV1665628	single nucleotide variant	NM_003193.5(TBCE):c.737+17T>G	not provided [RCV002198441]	likely benign	1	235434297	235434297	Human		name
156417404	CV1970379	single nucleotide variant	NM_003193.5(TBCE):c.738-17T>A	not provided [RCV002590172]	likely benign	1	235435728	235435728	Human		name
156249454	CV1988429	single nucleotide variant	NM_003193.5(TBCE):c.661-15G>A	not provided [RCV002645846]	likely benign	1	235434189	235434189	Human		name
156026021	CV2020266	single nucleotide variant	NM_003193.5(TBCE):c.1339+7A>T	not provided [RCV002691230]	likely benign	1	235441889	235441889	Human		name
156257665	CV2041330	single nucleotide variant	NM_003193.5(TBCE):c.834-13T>C	not provided [RCV002806221]	likely benign	1	235436373	235436373	Human		name
155998304	CV2045395	single nucleotide variant	NM_003193.5(TBCE):c.371+18C>T	not provided [RCV002756075]	likely benign	1	235414636	235414636	Human		name
155987270	CV2056217	single nucleotide variant	NM_003193.5(TBCE):c.461-10G>A	not provided [RCV002819037]	likely benign	1	235427130	235427130	Human		name
156160576	CV2074193	single nucleotide variant	NM_003193.5(TBCE):c.1117-4A>C	not provided [RCV002851194]	likely benign	1	235438765	235438765	Human		name
156345779	CV2172595	single nucleotide variant	NM_003193.5(TBCE):c.1340-5T>C	not provided [RCV003030552]	likely benign	1	235442847	235442847	Human		name
11633852	CV279616	single nucleotide variant	NM_003193.5(TBCE):c.460+14C>T	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000375485]\|not provided [RCV002059460]	likely benign\|uncertain significance	1	235419575	235419575	Human	1	name
11634026	CV279618	single nucleotide variant	NM_003193.5(TBCE):c.737+11C>T	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000388661]\|not provided [RCV002059461]	benign\|uncertain significance	1	235434291	235434291	Human	1	name
11652575	CV279871	single nucleotide variant	NM_003193.5(TBCE):c.100+15T>G	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000305943]\|not provided [RCV002059459]	likely benign\|uncertain significance	1	235380164	235380164	Human	1	name
11632596	CV281209	single nucleotide variant	NM_003193.5(TBCE):c.100+13T>G	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000267116]\|not provided [RCV001850547]	benign\|likely benign\|uncertain significance	1	235380162	235380162	Human	1	name
11651036	CV281278	single nucleotide variant	NM_003193.5(TBCE):c.737+15C>T	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000296615]	uncertain significance	1	235434295	235434295	Human	1	name
11633553	CV281289	single nucleotide variant	NM_003193.5(TBCE):c.738-12T>A	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000349174]\|not provided [RCV002059462]	likely benign\|uncertain significance	1	235435733	235435733	Human	1	name
11633631	CV281298	deletion	NM_003193.5(TBCE):c.1270+4del	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000353814]	uncertain significance	1	235438926	235438926	Human	1	name
402515012	CV2855350	single nucleotide variant	NM_003193.5(TBCE):c.1117-9T>C	not provided [RCV003547185]	likely benign	1	235438760	235438760	Human		name
405094846	CV2874811	single nucleotide variant	NM_003193.5(TBCE):c.1340-4A>C	not provided [RCV003550177]	likely benign	1	235442848	235442848	Human		name
402491181	CV2877656	single nucleotide variant	NM_003193.5(TBCE):c.738-13A>G	not provided [RCV003544958]	likely benign	1	235435732	235435732	Human		name
405026480	CV2889894	single nucleotide variant	NM_003193.5(TBCE):c.561-17C>A	not provided [RCV003578019]	likely benign	1	235430688	235430688	Human		name
405228660	CV2894632	single nucleotide variant	NM_003193.5(TBCE):c.460+15G>C	not provided [RCV003555119]	likely benign	1	235419576	235419576	Human		name
405113277	CV2900729	single nucleotide variant	NM_003193.5(TBCE):c.963+13C>G	not provided [RCV003558180]	likely benign	1	235436621	235436621	Human		name
402473282	CV2908881	single nucleotide variant	NM_003193.5(TBCE):c.899-12C>T	not provided [RCV003570956]	likely benign	1	235436532	235436532	Human		name
405206346	CV2913468	single nucleotide variant	NM_003193.5(TBCE):c.461-18C>G	not provided [RCV003566553]	likely benign	1	235427122	235427122	Human		name
402477137	CV2914247	single nucleotide variant	NM_003193.5(TBCE):c.661-17C>G	not provided [RCV003571615]	likely benign	1	235434187	235434187	Human		name
405175190	CV2915542	single nucleotide variant	NM_003193.5(TBCE):c.560+11T>G	not provided [RCV003563475]	likely benign	1	235427250	235427250	Human		name
405119686	CV2952181	single nucleotide variant	NM_003193.5(TBCE):c.834-18G>A	not provided [RCV003671334]	likely benign	1	235436368	235436368	Human		name
405116346	CV2953171	single nucleotide variant	NM_003193.5(TBCE):c.185+18A>G	not provided [RCV003666874]	likely benign	1	235401605	235401605	Human		name
405127396	CV2954736	single nucleotide variant	NM_003193.5(TBCE):c.372-13G>T	not provided [RCV003668056]	likely benign	1	235419460	235419460	Human		name
405245752	CV2965511	single nucleotide variant	NM_003193.5(TBCE):c.461-12A>G	not provided [RCV003685253]	likely benign	1	235427128	235427128	Human		name
405189766	CV2977903	single nucleotide variant	NM_003193.5(TBCE):c.660+14T>A	not provided [RCV003706274]	likely benign	1	235430818	235430818	Human		name
405234085	CV2981766	single nucleotide variant	NM_003193.5(TBCE):c.1116+8C>T	not provided [RCV003711891]	likely benign	1	235437482	235437482	Human		name
402479659	CV2990961	duplication	NM_003193.5(TBCE):c.833+12dup	not provided [RCV003686463]	benign	1	235435848	235435849	Human		name
405115952	CV2996321	single nucleotide variant	NM_003193.5(TBCE):c.898+19G>T	not provided [RCV003723290]	likely benign	1	235436469	235436469	Human		name
402520191	CV3000309	single nucleotide variant	NM_003193.5(TBCE):c.185+12T>G	not provided [RCV003716369]	likely benign	1	235401599	235401599	Human		name
402518580	CV3002271	single nucleotide variant	NM_003193.5(TBCE):c.899-17C>A	not provided [RCV003690116]	likely benign	1	235436527	235436527	Human		name
402523629	CV3011485	single nucleotide variant	NM_003193.5(TBCE):c.898+10A>T	not provided [RCV003716620]	likely benign	1	235436460	235436460	Human		name
405163718	CV3018052	single nucleotide variant	NM_003193.5(TBCE):c.899-10C>T	not provided [RCV003704144]	likely benign	1	235436534	235436534	Human		name
405054701	CV3023163	single nucleotide variant	NM_003193.5(TBCE):c.737+20A>C	not provided [RCV003697257]	likely benign	1	235434300	235434300	Human		name
405170582	CV3025763	single nucleotide variant	NM_003193.5(TBCE):c.460+18A>C	not provided [RCV003704650]	likely benign	1	235419579	235419579	Human		name
405093772	CV3026091	deletion	NM_003193.5(TBCE):c.899-12del	not provided [RCV003699834]	likely benign	1	235436531	235436531	Human		name
405078023	CV3031817	single nucleotide variant	NM_003193.5(TBCE):c.1339+7A>C	not provided [RCV003698728]	likely benign	1	235441889	235441889	Human		name
402487489	CV3033990	single nucleotide variant	NM_003193.5(TBCE):c.461-11T>C	not provided [RCV003713362]	likely benign	1	235427129	235427129	Human		name
405187143	CV3068841	single nucleotide variant	NM_003193.5(TBCE):c.371+19G>A	not provided [RCV003729375]	likely benign	1	235414637	235414637	Human		name
405186795	CV3124406	single nucleotide variant	NM_003193.5(TBCE):c.963+19A>G	not provided [RCV003820605]	likely benign	1	235436627	235436627	Human		name
405214132	CV3128345	single nucleotide variant	NM_003193.5(TBCE):c.963+13C>A	not provided [RCV003823769]	likely benign	1	235436621	235436621	Human		name
405135229	CV3130524	single nucleotide variant	NM_003193.5(TBCE):c.661-16C>T	not provided [RCV003838757]	likely benign	1	235434188	235434188	Human		name
405144250	CV3141410	single nucleotide variant	NM_003193.5(TBCE):c.186-15G>A	not provided [RCV003839526]	likely benign	1	235414418	235414418	Human		name
405205360	CV3144226	deletion	NM_003193.5(TBCE):c.560+17del	not provided [RCV003845016]	likely benign	1	235427256	235427256	Human		name
405188413	CV3149263	duplication	NM_003193.5(TBCE):c.737+14dup	not provided [RCV003843189]	likely benign	1	235434293	235434294	Human		name
405171092	CV3150057	single nucleotide variant	NM_003193.5(TBCE):c.101-19G>T	not provided [RCV003841528]	likely benign	1	235401484	235401484	Human		name
405046847	CV3150667	single nucleotide variant	NM_003193.5(TBCE):c.963+13C>T	not provided [RCV003849270]	likely benign	1	235436621	235436621	Human		name
405174930	CV3152213	single nucleotide variant	NM_003193.5(TBCE):c.1116+7A>G	not provided [RCV003858168]	likely benign	1	235437481	235437481	Human		name
405042402	CV3154097	duplication	NM_003193.5(TBCE):c.371+15dup	not provided [RCV003848965]	likely benign	1	235414632	235414633	Human		name
405234697	CV3155571	single nucleotide variant	NM_003193.5(TBCE):c.561-16T>G	not provided [RCV003853549]	likely benign	1	235430689	235430689	Human		name
405205222	CV3165646	single nucleotide variant	NM_003193.5(TBCE):c.371+11T>A	not provided [RCV003861312]	likely benign	1	235414629	235414629	Human		name
405225675	CV3169290	single nucleotide variant	NM_003193.5(TBCE):c.1491+7T>G	not provided [RCV003864313]	likely benign	1	235448447	235448447	Human		name
402468319	CV3174306	single nucleotide variant	NM_003193.5(TBCE):c.1271-6A>C	not provided [RCV003873589]	likely benign	1	235441808	235441808	Human		name
402514129	CV3178782	single nucleotide variant	NM_003193.5(TBCE):c.460+15G>A	not provided [RCV003879215]	likely benign	1	235419576	235419576	Human		name
404980794	CV3183417	single nucleotide variant	NM_003193.5(TBCE):c.963+14G>A	not provided [RCV003880440]	likely benign	1	235436622	235436622	Human		name
597758889	CV3715773	single nucleotide variant	NM_003193.5(TBCE):c.1116+1G>T	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV005017901]	likely pathogenic	1	235437475	235437475	Human	1	name
597953373	CV3776394	single nucleotide variant	NM_003193.5(TBCE):c.661-20G>A	not provided [RCV005121522]	likely benign	1	235434184	235434184	Human		name
597958858	CV3797397	single nucleotide variant	NM_003193.5(TBCE):c.737+18A>T	not provided [RCV005138084]	likely benign	1	235434298	235434298	Human		name
597905909	CV3803999	single nucleotide variant	NM_003193.5(TBCE):c.833+11C>T	not provided [RCV005153545]	likely benign	1	235435851	235435851	Human		name
597961666	CV3812205	single nucleotide variant	NM_003193.5(TBCE):c.372-13G>C	not provided [RCV005163858]	likely benign	1	235419460	235419460	Human		name
617153486	CV4016603	single nucleotide variant	NM_003193.5(TBCE):c.1491+1G>T	not provided [RCV005415700]	uncertain significance	1	235448441	235448441	Human		name
28884285	CV865137	single nucleotide variant	NM_003193.5(TBCE):c.1270+9G>A	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001097760]\|not provided [RCV003727846]	likely benign\|uncertain significance	1	235438931	235438931	Human	1	name
150339943	CV1167891	single nucleotide variant	NM_003193.5(TBCE):c.963+285C>T	not provided [RCV001534777]	benign	1	235436893	235436893	Human		name
150333305	CV1170691	single nucleotide variant	NM_003193.5(TBCE):c.460+257T>G	not provided [RCV001539425]	benign	1	235419818	235419818	Human		name
150416549	CV1179219	single nucleotide variant	NM_003193.5(TBCE):c.963+232C>T	not provided [RCV001549712]	likely benign	1	235436840	235436840	Human		name
150424688	CV1182876	single nucleotide variant	NM_003193.5(TBCE):c.372-400A>G	not provided [RCV001556990]	likely benign	1	235419073	235419073	Human		name
150418697	CV1192810	single nucleotide variant	NM_003193.5(TBCE):c.738-216A>G	not provided [RCV001569336]	likely benign	1	235435529	235435529	Human		name
150421179	CV1196569	single nucleotide variant	NM_003193.5(TBCE):c.964-211G>A	not provided [RCV001577926]	likely benign	1	235437111	235437111	Human		name
150449608	CV1215131	single nucleotide variant	NM_003193.5(TBCE):c.460+200C>G	not provided [RCV001611721]	benign	1	235419761	235419761	Human		name
150477505	CV1218635	single nucleotide variant	NM_003193.5(TBCE):c.461-204G>A	not provided [RCV001616262]	benign	1	235426936	235426936	Human		name
150436601	CV1220572	single nucleotide variant	NM_003193.5(TBCE):c.560+231G>A	not provided [RCV001609556]	benign	1	235427470	235427470	Human		name
150503533	CV1223769	single nucleotide variant	NM_003193.5(TBCE):c.561-262A>G	not provided [RCV001621418]	benign	1	235430443	235430443	Human		name
150507246	CV1226543	single nucleotide variant	NM_003193.5(TBCE):c.661-838G>A	not provided [RCV001635911]	benign	1	235433366	235433366	Human		name
150513080	CV1228892	single nucleotide variant	NM_003193.5(TBCE):c.661-267T>G	not provided [RCV001637734]	benign	1	235433937	235433937	Human		name
150454948	CV1232369	single nucleotide variant	NM_003193.5(TBCE):c.561-248G>C	not provided [RCV001648383]	benign	1	235430457	235430457	Human		name
150473663	CV1234318	single nucleotide variant	NM_003193.5(TBCE):c.660+131A>G	not provided [RCV001651637]	benign	1	235430935	235430935	Human		name
150461680	CV1234810	single nucleotide variant	NM_003193.5(TBCE):c.560+265A>G	not provided [RCV001649392]	benign	1	235427504	235427504	Human		name
150502887	CV1241672	single nucleotide variant	NM_003193.5(TBCE):c.963+206T>C	not provided [RCV001657263]	benign	1	235436814	235436814	Human	5	name
150511674	CV1242772	single nucleotide variant	NM_003193.5(TBCE):c.738-174C>T	not provided [RCV001661125]	benign	1	235435571	235435571	Human		name
150431059	CV1243570	single nucleotide variant	NM_003193.5(TBCE):c.460+308C>T	not provided [RCV001663190]	benign	1	235419869	235419869	Human		name
150456741	CV1248695	single nucleotide variant	NM_003193.5(TBCE):c.737+240T>C	not provided [RCV001668870]	benign	1	235434520	235434520	Human		name
150489499	CV1250864	single nucleotide variant	NM_003193.5(TBCE):c.1270+67G>A	not provided [RCV001674531]	benign	1	235438989	235438989	Human		name
150448437	CV1253551	single nucleotide variant	NM_003193.5(TBCE):c.1116+24A>C	not provided [RCV001667479]	benign	1	235437498	235437498	Human		name
150456452	CV1260014	single nucleotide variant	NM_003193.5(TBCE):c.963+126A>C	not provided [RCV001681493]	benign	1	235436734	235436734	Human		name
150460535	CV1264188	single nucleotide variant	NM_003193.5(TBCE):c.560+232C>G	not provided [RCV001682104]	benign	1	235427471	235427471	Human		name
150469878	CV1268170	single nucleotide variant	NM_003193.5(TBCE):c.372-245C>T	not provided [RCV001695034]	benign	1	235419228	235419228	Human		name
150464819	CV1268503	single nucleotide variant	NM_003193.5(TBCE):c.372-328T>C	not provided [RCV001694199]	benign	1	235419145	235419145	Human		name
150458073	CV1269580	single nucleotide variant	NM_003193.5(TBCE):c.460+327A>C	not provided [RCV001693120]	benign	1	235419888	235419888	Human		name
150498040	CV1271443	single nucleotide variant	NM_003193.5(TBCE):c.661-119G>A	not provided [RCV001689133]	benign	1	235434085	235434085	Human		name
150464387	CV1276379	single nucleotide variant	NM_003193.5(TBCE):c.738-173G>A	not provided [RCV001710324]	benign	1	235435572	235435572	Human		name
152030687	CV1534333	single nucleotide variant	NM_003193.5(TBCE):c.1270+14C>T	not provided [RCV002086198]	likely benign	1	235438936	235438936	Human		name
152109972	CV1563951	single nucleotide variant	NM_003193.5(TBCE):c.1492-18C>T	not provided [RCV002174206]	likely benign	1	235448652	235448652	Human		name
152097189	CV1599888	single nucleotide variant	NM_003193.5(TBCE):c.1492-13G>A	not provided [RCV002151349]	likely benign	1	235448657	235448657	Human		name
152121159	CV1613151	single nucleotide variant	NM_003193.5(TBCE):c.1271-15T>G	not provided [RCV002154274]	likely benign	1	235441799	235441799	Human		name
155910693	CV2041288	single nucleotide variant	NM_003193.5(TBCE):c.1400-12G>A	not provided [RCV002771560]	likely benign	1	235448337	235448337	Human		name
11656172	CV279644	duplication	NM_003193.5(TBCE):c.60_62dup	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000331563]	uncertain significance	1	235448819	235448820	Human	1	name
11633825	CV279876	single nucleotide variant	NM_003193.5(TBCE):c.1492-14C>T	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000371083]\|not provided [RCV002059463]	benign\|likely benign\|uncertain significance	1	235448656	235448656	Human	1	name
401936972	CV2816242	single nucleotide variant	NM_003193.5(TBCE):c.1270+53A>G	not provided [RCV003414968]	likely benign	1	235438975	235438975	Human		name
405160538	CV2899217	single nucleotide variant	NM_003193.5(TBCE):c.1400-20C>A	not provided [RCV003562336]	likely benign	1	235448329	235448329	Human		name
402466949	CV2914882	single nucleotide variant	NM_003193.5(TBCE):c.1399+12C>T	not provided [RCV003569501]	likely benign	1	235442923	235442923	Human		name
405190158	CV2924658	single nucleotide variant	NM_003193.5(TBCE):c.1339+16T>C	not provided [RCV003564830]	likely benign	1	235441898	235441898	Human		name
405007259	CV2926704	single nucleotide variant	NM_003193.5(TBCE):c.1270+15A>G	not provided [RCV003576436]	likely benign	1	235438937	235438937	Human		name
402490034	CV2948945	single nucleotide variant	NM_003193.5(TBCE):c.1492-13G>C	not provided [RCV003660459]	likely benign	1	235448657	235448657	Human		name
405155065	CV2950654	single nucleotide variant	NM_003193.5(TBCE):c.1492-19A>G	not provided [RCV003670226]	likely benign	1	235448651	235448651	Human		name
405166844	CV2957379	single nucleotide variant	NM_003193.5(TBCE):c.1492-13G>T	not provided [RCV003675037]	likely benign	1	235448657	235448657	Human		name
402489726	CV2984533	single nucleotide variant	NM_003193.5(TBCE):c.1339+12A>T	not provided [RCV003713657]	likely benign	1	235441894	235441894	Human		name
402482906	CV2997993	single nucleotide variant	NM_003193.5(TBCE):c.1400-19T>G	not provided [RCV003686784]	likely benign	1	235448330	235448330	Human		name
402516157	CV3003128	single nucleotide variant	NM_003193.5(TBCE):c.1400-18T>G	not provided [RCV003716083]	likely benign	1	235448331	235448331	Human		name
405033286	CV3009325	single nucleotide variant	NM_003193.5(TBCE):c.1116+11G>C	not provided [RCV003695733]	likely benign	1	235437485	235437485	Human		name
405197758	CV3032580	single nucleotide variant	NM_003193.5(TBCE):c.1271-16T>C	not provided [RCV003707065]	likely benign	1	235441798	235441798	Human		name
405236795	CV3032888	single nucleotide variant	NM_003193.5(TBCE):c.1117-10A>G	not provided [RCV003712497]	likely benign	1	235438759	235438759	Human		name
405217446	CV3037887	single nucleotide variant	NM_003193.5(TBCE):c.1116+16A>G	not provided [RCV003709505]	likely benign	1	235437490	235437490	Human		name
405103755	CV3116346	single nucleotide variant	NM_003193.5(TBCE):c.1116+15C>T	not provided [RCV003812062]	likely benign	1	235437489	235437489	Human		name
405091167	CV3122611	single nucleotide variant	NM_003193.5(TBCE):c.1340-10T>C	not provided [RCV003811176]	likely benign	1	235442842	235442842	Human		name
405020866	CV3139189	single nucleotide variant	NM_003193.5(TBCE):c.1340-20T>C	not provided [RCV003829831]	likely benign	1	235442832	235442832	Human		name
405243983	CV3161158	single nucleotide variant	NM_003193.5(TBCE):c.1400-17T>C	not provided [RCV003868067]	likely benign	1	235448332	235448332	Human		name
597908738	CV3739037	single nucleotide variant	NM_003193.5(TBCE):c.1116+18G>A	not provided [RCV005073272]	likely benign	1	235437492	235437492	Human		name
597898189	CV3854526	single nucleotide variant	NM_003193.5(TBCE):c.1492-17C>T	not provided [RCV005201633]	likely benign	1	235448653	235448653	Human		name
28889768	CV865138	single nucleotide variant	NM_003193.5(TBCE):c.1400-14T>C	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001099550]\|not provided [RCV002069673]	benign\|likely benign	1	235448335	235448335	Human	1	name
150409154	CV1175860	single nucleotide variant	NM_003193.5(TBCE):c.1400-143A>C	not provided [RCV001546151]	likely benign	1	235448206	235448206	Human		name
150422262	CV1179218	deletion	NM_003193.5(TBCE):c.661-1277del	not provided [RCV001552459]	likely benign	1	235432917	235432917	Human		name
150418590	CV1192811	single nucleotide variant	NM_003193.5(TBCE):c.1339+174G>C	not provided [RCV001569287]	likely benign	1	235442056	235442056	Human		name
150466240	CV1201212	single nucleotide variant	NM_003193.5(TBCE):c.1400-224G>A	not provided [RCV001587692]	likely benign	1	235448125	235448125	Human		name
150430526	CV1230923	deletion	NM_003193.5(TBCE):c.1400-109del	not provided [RCV001641472]	benign	1	235448221	235448221	Human		name
150443298	CV1232561	single nucleotide variant	NM_003193.5(TBCE):c.1339+264C>T	not provided [RCV001645529]	benign	1	235442146	235442146	Human		name
150442284	CV1246868	deletion	NM_003193.5(TBCE):c.661-1263del	not provided [RCV001666522]	benign	1	235432930	235432930	Human		name
150436794	CV1249753	single nucleotide variant	NM_003193.5(TBCE):c.1117-251A>C	not provided [RCV001665667]	benign	1	235438518	235438518	Human		name
150484391	CV1250010	duplication	NM_003193.5(TBCE):c.1399+181dup	not provided [RCV001673623]	benign	1	235443087	235443088	Human		name
150464199	CV1252636	single nucleotide variant	NM_003193.5(TBCE):c.1270+167G>A	not provided [RCV001669960]	benign	1	235439089	235439089	Human		name
150447974	CV1253483	single nucleotide variant	NM_003193.5(TBCE):c.1116+122C>G	not provided [RCV001667411]	benign	1	235437596	235437596	Human		name
150481443	CV1261890	single nucleotide variant	NM_003193.5(TBCE):c.661-1196C>T	not provided [RCV001680275]\|not specified [RCV001701213]	benign	1	235433008	235433008	Human		name
150461135	CV1264269	single nucleotide variant	NM_003193.5(TBCE):c.1270+307G>C	not provided [RCV001682186]	benign	1	235439229	235439229	Human		name
150444752	CV1266576	duplication	NM_003193.5(TBCE):c.661-1288dup	not provided [RCV001691013]	benign	1	235432914	235432915	Human		name
150489622	CV1267474	single nucleotide variant	NM_003193.5(TBCE):c.1399+274C>T	not provided [RCV001687497]	benign	1	235443185	235443185	Human		name
150470538	CV1269864	single nucleotide variant	NM_003193.5(TBCE):c.1270+292G>A	not provided [RCV001695151]	benign	1	235439214	235439214	Human		name
150496468	CV1271531	duplication	NM_003193.5(TBCE):c.1400-109dup	not provided [RCV001688831]	benign	1	235448220	235448221	Human		name
150449921	CV1275736	single nucleotide variant	NM_003193.5(TBCE):c.1117-126G>T	not provided [RCV001708191]	benign	1	235438643	235438643	Human		name
150456275	CV1278477	single nucleotide variant	NM_003193.5(TBCE):c.661-1524G>C	not provided [RCV001709092]	benign	1	235432680	235432680	Human		name
150487006	CV1283724	single nucleotide variant	NM_003193.5(TBCE):c.1339+126A>T	not provided [RCV001715879]	benign	1	235442008	235442008	Human		name
155797557	CV1860395	single nucleotide variant	NM_003193.5(TBCE):c.661-1170G>C	not provided [RCV002467037]	uncertain significance	1	235433034	235433034	Human		name
155797790	CV1860488	single nucleotide variant	NM_003193.5(TBCE):c.661-1251C>T	not provided [RCV002467130]	uncertain significance	1	235432953	235432953	Human		name
401936969	CV2816239	single nucleotide variant	NM_003193.5(TBCE):c.661-1238C>T	not provided [RCV003414965]	likely benign	1	235432966	235432966	Human		name
401936970	CV2816240	single nucleotide variant	NM_003193.5(TBCE):c.661-1190T>C	not provided [RCV003414966]	likely benign	1	235433014	235433014	Human		name
401936973	CV2816243	single nucleotide variant	NM_003193.5(TBCE):c.1271-610G>T	not provided [RCV003414969]	benign	1	235441204	235441204	Human		name
405271395	CV3202789	single nucleotide variant	NM_003193.5(TBCE):c.661-1115C>T	TBCE-related disorder [RCV004550933]	likely benign	1	235433089	235433089	Human		name , trait , alternate_id
405287336	CV3220691	single nucleotide variant	NM_003193.5(TBCE):c.661-1267A>T	TBCE-related disorder [RCV004554378]	likely benign	1	235432937	235432937	Human		name , trait , alternate_id
407458198	CV3416288	single nucleotide variant	NM_003193.5(TBCE):c.661-1226T>C	not provided [RCV004599166]	likely benign	1	235432978	235432978	Human		name
598178785	CV4008491	single nucleotide variant	NM_003193.5(TBCE):c.661-1147A>G	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV005394010]	uncertain significance	1	235433057	235433057	Human	1	name
150514316	CV1213424	microsatellite	NM_003193.5(TBCE):c.100+13TG[15]	not provided [RCV001599015]	benign	1	235380162	235380183	Human		name
150501976	CV1224351	microsatellite	NM_003193.5(TBCE):c.100+13TG[18]	not provided [RCV001620992]	benign	1	235380162	235380177	Human		name
150431416	CV1235439	microsatellite	NM_003193.5(TBCE):c.100+13TG[19]	not provided [RCV001641809]	benign	1	235380162	235380175	Human		name
150485014	CV1250141	microsatellite	NM_003193.5(TBCE):c.100+13TG[16]	not provided [RCV001673754]	benign	1	235380162	235380181	Human		name
151858545	CV1406399	microsatellite	NM_003193.5(TBCE):c.100+13TG[20]	not provided [RCV001958916]	likely benign	1	235380162	235380173	Human		name
152055366	CV1522043	microsatellite	NM_003193.5(TBCE):c.100+13TG[11]	not provided [RCV002189894]	likely benign	1	235380162	235380191	Human		name
152067756	CV1529440	microsatellite	NM_003193.5(TBCE):c.100+13TG[21]	not provided [RCV002168895]	likely benign	1	235380162	235380171	Human		name
152143455	CV1538405	microsatellite	NM_003193.5(TBCE):c.100+13TG[14]	not provided [RCV002219682]	benign	1	235380162	235380185	Human		name
152065189	CV1539711	microsatellite	NM_003193.5(TBCE):c.100+13TG[23]	not provided [RCV002147319]	likely benign	1	235380162	235380167	Human		name
152065306	CV1539729	microsatellite	NM_003193.5(TBCE):c.100+13TG[13]	not provided [RCV002147334]	likely benign	1	235380162	235380187	Human		name
152046362	CV1556245	microsatellite	NM_003193.5(TBCE):c.100+13TG[22]	not provided [RCV002206965]	likely benign	1	235380162	235380169	Human		name
152048965	CV1585468	microsatellite	NM_003193.5(TBCE):c.100+13TG[12]	not provided [RCV002145431]	likely benign	1	235380162	235380189	Human		name
152033814	CV1610459	microsatellite	NM_003193.5(TBCE):c.100+13TG[24]	not provided [RCV002124998]	benign	1	235380162	235380165	Human		name
11653424	CV279615	microsatellite	NM_003193.5(TBCE):c.100+13TG[27]	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000311006]\|not provided [RCV002059457]	likely benign\|uncertain significance	1	235380161	235380162	Human		name
11658497	CV281271	microsatellite	NM_003193.5(TBCE):c.100+13TG[28]	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000349552]\|not provided [RCV002059458]	likely benign\|uncertain significance	1	235380161	235380162	Human		name
11633084	CV281274	microsatellite	NM_003193.5(TBCE):c.100+13TG[25]	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000310092]\|not provided [RCV001850546]	likely benign\|uncertain significance	1	235380162	235380163	Human		name
12896046	CV389403	microsatellite	NM_003193.5(TBCE):c.100+13TG[17]	not provided [RCV000514809]\|not specified [RCV000454812]	benign\|likely benign	1	235380162	235380179	Human		name
150517441	CV1226891	microsatellite	NM_003193.5(TBCE):c.1399+275AT[7]	not provided [RCV001639986]	benign	1	235443185	235443186	Human		name
150486527	CV1262589	microsatellite	NM_003193.5(TBCE):c.1399+285AC[8]	not provided [RCV001686986]	benign	1	235443195	235443196	Human		name
150332961	CV1168821	microsatellite	NM_003193.5(TBCE):c.661-1330TAT[2]	not provided [RCV001537095]	benign	1	235432874	235432876	Human		name
150510690	CV1229219	microsatellite	NM_003193.5(TBCE):c.1399+255AC[11]	not provided [RCV001637147]	benign	1	235443165	235443166	Human		name
156418710	CV1918658	duplication	NM_003193.5(TBCE):c.371+2_371+8dup	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV005356300]\|not provided [RCV002611914]	likely pathogenic\|uncertain significance	1	235414617	235414618	Human	1	name
402480842	CV3170734	microsatellite	NM_003193.5(TBCE):c.964-7_964-6del	not provided [RCV003875936]	likely benign	1	235437312	235437313	Human		name
13531001	CV511248	duplication	NM_003193.5(TBCE):c.1491_1491+4dup	Autosomal recessive Kenny-Caffey syndrome [RCV002289908]\|Inborn genetic diseases [RCV000622961]	likely pathogenic\|uncertain significance	1	235448437	235448438	Human	2	name
150511133	CV1229365	microsatellite	NM_003193.5(TBCE):c.964-192AAAAC[3]	not provided [RCV001637293]	benign	1	235437130	235437134	Human		name
11643093	CV267612	microsatellite	NM_003193.5(TBCE):c.660+9_660+10del	not provided [RCV000386744]	conflicting interpretations of pathogenicity\|uncertain significance	1	235430811	235430812	Human		name
405032252	CV3074948	single nucleotide variant	NM_003193.5(TBCE):c.21G>A (p.Ala7=)	TBCE-related disorder [RCV004554325]\|not provided [RCV003739236]	likely benign	1	235380070	235380070	Human		name , trait , alternate_id
597899877	CV3796486	single nucleotide variant	NM_003193.5(TBCE):c.13T>C (p.Leu5=)	not provided [RCV005152569]	likely benign	1	235380062	235380062	Human		name
151851348	CV1391826	deletion	NM_003193.5(TBCE):c.100+11_100+27del	not provided [RCV002033218]	likely benign\|uncertain significance	1	235380159	235380175	Human		name
152032947	CV1542556	duplication	NM_003193.5(TBCE):c.1491+3_1491+7dup	not provided [RCV002106470]	likely benign	1	235448441	235448442	Human		name
152128152	CV1581297	deletion	NM_003193.5(TBCE):c.100+12_100+17del	not provided [RCV002099114]	likely benign	1	235380161	235380166	Human		name
156367767	CV1909484	single nucleotide variant	NM_003193.5(TBCE):c.33T>C (p.Gly11=)	not provided [RCV002602939]	likely benign	1	235380082	235380082	Human		name
155915463	CV1980807	single nucleotide variant	NM_003193.5(TBCE):c.93C>G (p.Pro31=)	not provided [RCV002614288]	likely benign	1	235380142	235380142	Human		name
156120434	CV2039831	deletion	NM_003193.5(TBCE):c.461-12_461-11del	not provided [RCV002785768]	likely benign	1	235427128	235427129	Human		name
329373985	CV2452751	single nucleotide variant	NM_003193.5(TBCE):c.7G>T (p.Asp3Tyr)	Inborn genetic diseases [RCV003210643]	uncertain significance	1	235380056	235380056	Human	1	name
329955301	CV2671245	single nucleotide variant	NM_003193.5(TBCE):c.2T>A (p.Met1Lys)	not specified [RCV003236521]	uncertain significance	1	235380051	235380051	Human		name
402504238	CV2933541	microsatellite	NM_003193.5(TBCE):c.737+15_737+18del	not provided [RCV003574304]	likely benign	1	235434290	235434293	Human		name
402500751	CV2943544	deletion	NM_003193.5(TBCE):c.100+11_100+17del	not provided [RCV003661523]	likely benign	1	235380159	235380165	Human		name
405184180	CV2967533	duplication	NM_003193.5(TBCE):c.371+13_371+15dup	not provided [RCV003676585]	likely benign	1	235414629	235414630	Human		name
405217588	CV2968512	single nucleotide variant	NM_003193.5(TBCE):c.51T>C (p.Asn17=)	not provided [RCV003680229]	likely benign	1	235380100	235380100	Human		name
402496109	CV2978709	deletion	NM_003193.5(TBCE):c.100+11_100+29del	not provided [RCV003714226]	likely benign	1	235380159	235380177	Human		name
405120359	CV2994011	deletion	NM_003193.5(TBCE):c.660+13_660+16del	not provided [RCV003723822]	likely benign	1	235430814	235430817	Human		name
405123756	CV3021068	deletion	NM_003193.5(TBCE):c.22del (p.Asp8fs)	not provided [RCV003701032]	pathogenic	1	235380070	235380070	Human		name
402484049	CV3036637	deletion	NM_003193.5(TBCE):c.560+14_560+15del	not provided [RCV003713050]	likely benign	1	235427253	235427254	Human		name
405143936	CV3056206	deletion	NM_003193.5(TBCE):c.100+11_100+31del	not provided [RCV003725887]	likely benign	1	235380159	235380179	Human		name
405116307	CV3115850	deletion	NM_003193.5(TBCE):c.100+11_100+15del	not provided [RCV003814340]	likely benign	1	235380159	235380163	Human		name
402517150	CV3135776	single nucleotide variant	NM_003193.5(TBCE):c.93C>T (p.Pro31=)	not provided [RCV003824402]	likely benign	1	235380142	235380142	Human		name
405123899	CV3136379	single nucleotide variant	NM_003193.5(TBCE):c.75T>C (p.Phe25=)	not provided [RCV003837709]	likely benign	1	235380124	235380124	Human		name
402486912	CV3181856	duplication	NM_003193.5(TBCE):c.1400-6_1400-3dup	not provided [RCV003876525]	likely benign	1	235448341	235448342	Human		name
597842876	CV3831107	deletion	NM_003193.5(TBCE):c.100+11_100+21del	not provided [RCV005172488]	likely benign	1	235380159	235380169	Human		name
152150154	CV1559419	deletion	NM_003193.5(TBCE):c.1340-11_1340-8del	not provided [RCV002220682]	likely benign	1	235442840	235442843	Human		name
156414144	CV1986503	single nucleotide variant	NM_003193.5(TBCE):c.219C>T (p.Asn73=)	not provided [RCV002609069]	likely benign	1	235414466	235414466	Human		name
155916278	CV2091773	single nucleotide variant	NM_003193.5(TBCE):c.150T>C (p.Asp50=)	not provided [RCV002903106]	likely benign	1	235401552	235401552	Human		name
402495988	CV2875224	single nucleotide variant	NM_003193.5(TBCE):c.165G>A (p.Gly55=)	not provided [RCV003545391]	likely benign	1	235401567	235401567	Human		name
405129475	CV2962243	single nucleotide variant	NM_003193.5(TBCE):c.294T>C (p.Asp98=)	not provided [RCV003668250]	likely benign	1	235414541	235414541	Human		name
402505956	CV3039077	single nucleotide variant	NM_003193.5(TBCE):c.105C>T (p.Pro35=)	not provided [RCV003715201]	likely benign	1	235401507	235401507	Human		name
402481115	CV3041521	single nucleotide variant	NM_003193.5(TBCE):c.198A>G (p.Gly66=)	not provided [RCV003712832]	likely benign	1	235414445	235414445	Human		name
405118809	CV3116127	single nucleotide variant	NM_003193.5(TBCE):c.216G>C (p.Pro72=)	not provided [RCV003814617]	likely benign	1	235414463	235414463	Human		name
405092959	CV3118856	single nucleotide variant	NM_003193.5(TBCE):c.201A>C (p.Gly67=)	not provided [RCV003811307]	likely benign	1	235414448	235414448	Human		name
405159800	CV3124988	single nucleotide variant	NM_003193.5(TBCE):c.147T>C (p.His49=)	not provided [RCV003818259]	likely benign	1	235401549	235401549	Human		name
402522768	CV3127025	single nucleotide variant	NM_003193.5(TBCE):c.216G>A (p.Pro72=)	not provided [RCV003824943]	likely benign	1	235414463	235414463	Human		name
405113691	CV3133649	single nucleotide variant	NM_003193.5(TBCE):c.192G>T (p.Pro64=)	not provided [RCV003836442]	likely benign	1	235414439	235414439	Human		name
405056377	CV3147715	single nucleotide variant	NM_003193.5(TBCE):c.282A>T (p.Gly94=)	not provided [RCV003849945]	likely benign	1	235414529	235414529	Human		name
405236093	CV3166317	single nucleotide variant	NM_003193.5(TBCE):c.192G>A (p.Pro64=)	not provided [RCV003853766]	likely benign	1	235414439	235414439	Human		name
402469972	CV3171032	single nucleotide variant	NM_003193.5(TBCE):c.189C>T (p.His63=)	not provided [RCV003873995]	likely benign	1	235414436	235414436	Human		name
402467547	CV3174119	single nucleotide variant	NM_003193.5(TBCE):c.246T>G (p.Leu82=)	not provided [RCV003873402]	likely benign	1	235414493	235414493	Human		name
405227363	CV3180188	single nucleotide variant	NM_003193.5(TBCE):c.252A>T (p.Ala84=)	not provided [RCV003864608]	likely benign	1	235414499	235414499	Human		name
597640001	CV3619205	single nucleotide variant	NM_003193.5(TBCE):c.16A>T (p.Thr6Ser)	Inborn genetic diseases [RCV004971364]	uncertain significance	1	235380065	235380065	Human	1	name
15128896	CV746284	single nucleotide variant	NM_003193.5(TBCE):c.285A>G (p.Pro95=)	not provided [RCV000919732]	likely benign	1	235414532	235414532	Human		name
15180144	CV761712	single nucleotide variant	NM_003193.5(TBCE):c.159C>T (p.His53=)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001099437]\|not provided [RCV000929812]	likely benign\|uncertain significance	1	235401561	235401561	Human	1	name
126742599	CV1019325	single nucleotide variant	NM_003193.5(TBCE):c.71G>A (p.Arg24His)	Encephalopathy, progressive, with amyotrophy and optic atrophy [RCV001336550]\|Hypoparathyroidism-retardation-dysmorphism syndrome [RCV002486343]\|not provided [RCV002546783]	uncertain significance	1	235380120	235380120	Human	2	name
150478485	CV1271066	duplication	NM_003193.5(TBCE):c.737+271_737+276dup	not provided [RCV001696502]	benign	1	235434549	235434550	Human		name
151830019	CV1343396	single nucleotide variant	NM_003193.5(TBCE):c.35G>A (p.Arg12Gln)	not provided [RCV001920400]	uncertain significance	1	235380084	235380084	Human		name
151766807	CV1366244	single nucleotide variant	NM_003193.5(TBCE):c.83T>G (p.Val28Gly)	not provided [RCV001949763]	uncertain significance	1	235380132	235380132	Human		name
152112402	CV1539273	single nucleotide variant	NM_003193.5(TBCE):c.822C>A (p.Ala274=)	not provided [RCV002080428]	likely benign	1	235435829	235435829	Human		name
152162496	CV1606327	single nucleotide variant	NM_003193.5(TBCE):c.540C>T (p.His180=)	not provided [RCV002181171]	likely benign	1	235427219	235427219	Human		name
156267888	CV1879435	single nucleotide variant	NM_003193.5(TBCE):c.885G>A (p.Pro295=)	not provided [RCV003060605]	uncertain significance	1	235436437	235436437	Human		name
156292241	CV1926007	deletion	NM_003193.5(TBCE):c.1339+13_1339+18del	not provided [RCV002647246]	likely benign	1	235441892	235441897	Human		name
156440639	CV1943696	single nucleotide variant	NM_003193.5(TBCE):c.732C>T (p.Ser244=)	not provided [RCV003110675]	likely benign	1	235434275	235434275	Human		name
156090275	CV2016317	single nucleotide variant	NM_003193.5(TBCE):c.660G>A (p.Glu220=)	not provided [RCV002706286]	uncertain significance	1	235430804	235430804	Human		name
156118245	CV2035718	single nucleotide variant	NM_003193.5(TBCE):c.984A>G (p.Leu328=)	not provided [RCV002785682]	likely benign	1	235437342	235437342	Human		name
156104968	CV2038462	single nucleotide variant	NM_003193.5(TBCE):c.630C>T (p.Val210=)	TBCE-related disorder [RCV004548364]\|not provided [RCV002761458]	likely benign	1	235430774	235430774	Human		name , trait , alternate_id
156124741	CV2104017	single nucleotide variant	NM_003193.5(TBCE):c.675C>T (p.Val225=)	not provided [RCV002914307]	likely benign	1	235434218	235434218	Human		name
156017844	CV2151431	single nucleotide variant	NM_003193.5(TBCE):c.58C>T (p.His20Tyr)	not provided [RCV003018081]	uncertain significance	1	235380107	235380107	Human		name
156095385	CV2167328	single nucleotide variant	NM_003193.5(TBCE):c.384G>A (p.Lys128=)	not provided [RCV003038371]	likely benign	1	235419485	235419485	Human		name
11638376	CV272376	single nucleotide variant	NM_003193.5(TBCE):c.615A>C (p.Val205=)	not provided [RCV000302510]	uncertain significance	1	235430759	235430759	Human		name
401864433	CV2748674	single nucleotide variant	NM_003193.5(TBCE):c.89C>T (p.Pro30Leu)	Pituitary stalk interruption syndrome [RCV003330349]	uncertain significance	1	235380138	235380138	Human	1	name
11634005	CV279625	single nucleotide variant	NM_003193.5(TBCE):c.808C>T (p.Leu270=)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000387320]\|not provided [RCV003765732]	likely benign\|uncertain significance	1	235435815	235435815	Human	1	name
11633598	CV281294	single nucleotide variant	NM_003193.5(TBCE):c.909G>A (p.Thr303=)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000348208]\|TBCE-related disorder [RCV004549653]\|not provided [RCV002262929]	likely benign\|uncertain significance	1	235436554	235436554	Human	1	name , trait , alternate_id
11662845	CV281296	single nucleotide variant	NM_003193.5(TBCE):c.981G>A (p.Glu327=)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000390004]	uncertain significance	1	235437339	235437339	Human	1	name
402510714	CV2858785	single nucleotide variant	NM_003193.5(TBCE):c.990G>A (p.Lys330=)	not provided [RCV003546998]	likely benign	1	235437348	235437348	Human		name
405202889	CV2861490	single nucleotide variant	NM_003193.5(TBCE):c.399T>C (p.Ser133=)	not provided [RCV003551510]	likely benign	1	235419500	235419500	Human		name
405175345	CV2864532	single nucleotide variant	NM_003193.5(TBCE):c.498A>G (p.Ser166=)	not provided [RCV003542699]	likely benign	1	235427177	235427177	Human		name
402518950	CV2870938	single nucleotide variant	NM_003193.5(TBCE):c.306A>G (p.Gln102=)	not provided [RCV003547611]	likely benign	1	235414553	235414553	Human		name
405113913	CV2896595	single nucleotide variant	NM_003193.5(TBCE):c.996A>C (p.Pro332=)	not provided [RCV003558261]	likely benign	1	235437354	235437354	Human		name
402504000	CV2933482	single nucleotide variant	NM_003193.5(TBCE):c.972T>C (p.Phe324=)	not provided [RCV003574284]	likely benign	1	235437330	235437330	Human		name
402504246	CV2933545	single nucleotide variant	NM_003193.5(TBCE):c.417A>G (p.Val139=)	not provided [RCV003574305]	likely benign	1	235419518	235419518	Human		name
402518983	CV2946161	single nucleotide variant	NM_003193.5(TBCE):c.693G>A (p.Leu231=)	not provided [RCV003663160]	likely benign	1	235434236	235434236	Human		name
405134409	CV2957909	single nucleotide variant	NM_003193.5(TBCE):c.813T>C (p.Tyr271=)	not provided [RCV003672687]	likely benign	1	235435820	235435820	Human		name
405137974	CV2963209	single nucleotide variant	NM_003193.5(TBCE):c.330T>C (p.Pro110=)	not provided [RCV003668884]	likely benign	1	235414577	235414577	Human		name
405229167	CV2967883	single nucleotide variant	NM_003193.5(TBCE):c.462T>C (p.Asn154=)	not provided [RCV003681960]	likely benign	1	235427141	235427141	Human		name
405216379	CV2972069	single nucleotide variant	NM_003193.5(TBCE):c.591A>G (p.Ser197=)	not provided [RCV003680078]	likely benign	1	235430735	235430735	Human		name
405189065	CV2974292	single nucleotide variant	NM_003193.5(TBCE):c.954G>A (p.Gln318=)	not provided [RCV003677031]	likely benign	1	235436599	235436599	Human		name
405206817	CV2994400	single nucleotide variant	NM_003193.5(TBCE):c.687A>T (p.Pro229=)	not provided [RCV003678843]	likely benign	1	235434230	235434230	Human		name
405022405	CV3002737	deletion	NM_003193.5(TBCE):c.1340-17_1340-14del	not provided [RCV003694943]	likely benign	1	235442832	235442835	Human		name
402508607	CV3034168	single nucleotide variant	NM_003193.5(TBCE):c.930G>A (p.Lys310=)	not provided [RCV003715456]	likely benign	1	235436575	235436575	Human		name
405207942	CV3037074	single nucleotide variant	NM_003193.5(TBCE):c.609T>C (p.Leu203=)	not provided [RCV003708247]	likely benign	1	235430753	235430753	Human		name
405197009	CV3037827	deletion	NM_003193.5(TBCE):c.1340-13_1340-10del	not provided [RCV003707032]	likely benign	1	235442836	235442839	Human		name
405253343	CV3044422	single nucleotide variant	NM_003193.5(TBCE):c.396T>C (p.Val132=)	not provided [RCV003722494]	likely benign	1	235419497	235419497	Human		name
405244045	CV3054109	single nucleotide variant	NM_003193.5(TBCE):c.378G>C (p.Leu126=)	not provided [RCV003719884]	likely benign	1	235419479	235419479	Human		name
405038725	CV3067750	single nucleotide variant	NM_003193.5(TBCE):c.978T>C (p.Asn326=)	not provided [RCV003739744]	likely benign	1	235437336	235437336	Human		name
404976977	CV3117455	single nucleotide variant	NM_003193.5(TBCE):c.789A>G (p.Gln263=)	not provided [RCV003825227]	likely benign	1	235435796	235435796	Human		name
405113777	CV3118803	single nucleotide variant	NM_003193.5(TBCE):c.351C>T (p.Asp117=)	not provided [RCV003814031]	likely benign	1	235414598	235414598	Human		name
405196999	CV3138773	single nucleotide variant	NM_003193.5(TBCE):c.651G>A (p.Thr217=)	not provided [RCV003821589]	likely benign	1	235430795	235430795	Human		name
405015088	CV3138894	single nucleotide variant	NM_003193.5(TBCE):c.879T>C (p.His293=)	not provided [RCV003829231]	likely benign	1	235436431	235436431	Human		name
405228432	CV3153332	single nucleotide variant	NM_003193.5(TBCE):c.684C>T (p.Cys228=)	not provided [RCV003848396]	likely benign	1	235434227	235434227	Human		name
405217527	CV3160984	deletion	NM_003193.5(TBCE):c.195del (p.Gly66fs)	not provided [RCV003863046]	pathogenic	1	235414442	235414442	Human		name
405239923	CV3165976	single nucleotide variant	NM_003193.5(TBCE):c.567T>C (p.Asn189=)	not provided [RCV003866988]	likely benign	1	235430711	235430711	Human		name
402467265	CV3174048	single nucleotide variant	NM_003193.5(TBCE):c.483A>C (p.Ser161=)	not provided [RCV003873331]	likely benign	1	235427162	235427162	Human		name
402470869	CV3175283	deletion	NM_003193.5(TBCE):c.1271-16_1271-15del	not provided [RCV003874215]	likely benign	1	235441796	235441797	Human		name
402498031	CV3179389	single nucleotide variant	NM_003193.5(TBCE):c.447T>C (p.Ala149=)	not provided [RCV003877656]	likely benign	1	235419548	235419548	Human		name
404987004	CV3179713	single nucleotide variant	NM_003193.5(TBCE):c.669G>C (p.Arg223=)	not provided [RCV003881190]	likely benign	1	235434212	235434212	Human		name
405250577	CV3180780	single nucleotide variant	NM_003193.5(TBCE):c.969G>A (p.Ser323=)	not provided [RCV003870057]	likely benign	1	235437327	235437327	Human		name
597640020	CV3619209	single nucleotide variant	NM_003193.5(TBCE):c.62C>G (p.Ala21Gly)	Inborn genetic diseases [RCV004971368]	uncertain significance	1	235380111	235380111	Human	1	name
597714197	CV3715711	single nucleotide variant	NM_003193.5(TBCE):c.34C>T (p.Arg12Ter)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV005010057]	likely pathogenic	1	235380083	235380083	Human	1	name
597928419	CV3783420	single nucleotide variant	NM_003193.5(TBCE):c.633C>T (p.Leu211=)	not provided [RCV005116107]	likely benign	1	235430777	235430777	Human		name
598196972	CV3912963	single nucleotide variant	NM_003193.5(TBCE):c.59A>G (p.His20Arg)	Inborn genetic diseases [RCV005289515]	uncertain significance	1	235380108	235380108	Human	1	name
13517835	CV488693	single nucleotide variant	NM_003193.5(TBCE):c.585C>T (p.Ser195=)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001101430]\|not provided [RCV000596850]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	235430729	235430729	Human	1	name
13516482	CV492659	single nucleotide variant	NM_003193.5(TBCE):c.708T>G (p.Leu236=)	not provided [RCV000595579]	conflicting interpretations of pathogenicity\|uncertain significance	1	235434251	235434251	Human		name
13705983	CV537120	single nucleotide variant	NM_003193.5(TBCE):c.678G>A (p.Ala226=)	not provided [RCV000658553]	conflicting interpretations of pathogenicity\|uncertain significance	1	235434221	235434221	Human		name
15157085	CV718805	single nucleotide variant	NM_003193.5(TBCE):c.945C>T (p.Asn315=)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001095971]\|not provided [RCV000880755]	likely benign\|uncertain significance	1	235436590	235436590	Human	1	name
15127900	CV746285	single nucleotide variant	NM_003193.5(TBCE):c.403A>C (p.Arg135=)	not provided [RCV000919567]	likely benign	1	235419504	235419504	Human		name
15105406	CV746286	single nucleotide variant	NM_003193.5(TBCE):c.606G>A (p.Thr202=)	not provided [RCV000915539]	likely benign	1	235430750	235430750	Human		name
15125538	CV746287	single nucleotide variant	NM_003193.5(TBCE):c.837A>G (p.Leu279=)	not provided [RCV000919175]	likely benign	1	235436389	235436389	Human		name
15110351	CV746288	single nucleotide variant	NM_003193.5(TBCE):c.843A>G (p.Gln281=)	TBCE-related disorder [RCV004551819]\|not provided [RCV000916515]	likely benign	1	235436395	235436395	Human		name , trait , alternate_id
15193025	CV761713	single nucleotide variant	NM_003193.5(TBCE):c.342C>T (p.Ile114=)	not provided [RCV000933250]	likely benign	1	235414589	235414589	Human		name
15195027	CV761714	single nucleotide variant	NM_003193.5(TBCE):c.765G>A (p.Lys255=)	not provided [RCV000933815]	likely benign	1	235435772	235435772	Human		name
15138329	CV780602	single nucleotide variant	NM_003193.5(TBCE):c.501A>G (p.Ser167=)	not provided [RCV000982454]	likely benign	1	235427180	235427180	Human		name
28884003	CV863914	single nucleotide variant	NM_003193.5(TBCE):c.70C>T (p.Arg24Cys)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001097670]	uncertain significance	1	235380119	235380119	Human	1	name
28878636	CV863915	single nucleotide variant	NM_003193.5(TBCE):c.835T>C (p.Leu279=)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001095970]\|not provided [RCV001873464]	likely benign\|uncertain significance	1	235436387	235436387	Human	1	name
126748102	CV1002586	single nucleotide variant	NM_003193.5(TBCE):c.190C>T (p.Pro64Ser)	not provided [RCV001315472]	uncertain significance	1	235414437	235414437	Human		name
126918732	CV1039894	single nucleotide variant	NM_003193.5(TBCE):c.262C>T (p.Arg88Cys)	not provided [RCV001361898]	uncertain significance	1	235414509	235414509	Human		name
127276275	CV1067007	single nucleotide variant	NM_003193.5(TBCE):c.1380C>T (p.Val460=)	not provided [RCV001407107]	likely benign	1	235442892	235442892	Human		name
150485138	CV1273980	insertion	NM_003193.5(TBCE):c.963+130_963+131insC	not provided [RCV001698649]	benign	1	235436738	235436739	Human		name
150528197	CV1289094	single nucleotide variant	NM_003193.5(TBCE):c.155G>A (p.Ser52Asn)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001725858]	uncertain significance	1	235401557	235401557	Human	1	name
151355343	CV1328410	single nucleotide variant	NM_003193.5(TBCE):c.1567C>T (p.Leu523=)	not provided [RCV002542045]\|not specified [RCV001820415]	likely benign	1	235448745	235448745	Human		name
151782884	CV1435039	single nucleotide variant	NM_003193.5(TBCE):c.194C>T (p.Thr65Ile)	not provided [RCV001916044]	uncertain significance	1	235414441	235414441	Human		name
151803147	CV1456732	single nucleotide variant	NM_003193.5(TBCE):c.212G>A (p.Arg71His)	not provided [RCV001877554]	uncertain significance	1	235414459	235414459	Human		name
151738455	CV1469562	single nucleotide variant	NM_003193.5(TBCE):c.1398G>A (p.Pro466=)	not provided [RCV002041984]	uncertain significance	1	235442910	235442910	Human		name
152045744	CV1556164	single nucleotide variant	NM_003193.5(TBCE):c.1062G>T (p.Ala354=)	not provided [RCV002206902]	likely benign	1	235437420	235437420	Human		name
152093307	CV1570487	single nucleotide variant	NM_003193.5(TBCE):c.133G>A (p.Glu45Lys)	not provided [RCV002213026]	likely benign\|conflicting interpretations of pathogenicity	1	235401535	235401535	Human		name
152127743	CV1581183	single nucleotide variant	NM_003193.5(TBCE):c.1101G>A (p.Thr367=)	not provided [RCV002099058]	likely benign	1	235437459	235437459	Human		name
152061066	CV1585044	single nucleotide variant	NM_003193.5(TBCE):c.1534T>C (p.Leu512=)	not provided [RCV002073683]	likely benign	1	235448712	235448712	Human		name
152149712	CV1601420	single nucleotide variant	NM_003193.5(TBCE):c.1206G>A (p.Pro402=)	TBCE-related disorder [RCV004553771]\|not provided [RCV002157988]	likely benign	1	235438858	235438858	Human		name , trait , alternate_id
152148952	CV1616669	single nucleotide variant	NM_003193.5(TBCE):c.1059G>A (p.Thr353=)	not provided [RCV002201669]	likely benign	1	235437417	235437417	Human		name
152060346	CV1659556	single nucleotide variant	NM_003193.5(TBCE):c.1260C>T (p.Phe420=)	not provided [RCV002073599]	likely benign	1	235438912	235438912	Human		name
152034849	CV1666323	single nucleotide variant	NM_003193.5(TBCE):c.1470G>T (p.Leu490=)	not provided [RCV002106815]	likely benign	1	235448419	235448419	Human		name
156250716	CV1867814	single nucleotide variant	NM_003193.5(TBCE):c.1116G>A (p.Glu372=)	not provided [RCV003060018]	uncertain significance	1	235437474	235437474	Human		name
155958473	CV1911907	single nucleotide variant	NM_003193.5(TBCE):c.260A>C (p.Asn87Thr)	Inborn genetic diseases [RCV004070568]\|not provided [RCV002616610]	uncertain significance	1	235414507	235414507	Human	1	name
156362296	CV1931782	single nucleotide variant	NM_003193.5(TBCE):c.157C>T (p.His53Tyr)	not provided [RCV002632762]	uncertain significance	1	235401559	235401559	Human		name
156387969	CV1955042	single nucleotide variant	NM_003193.5(TBCE):c.1530G>A (p.Lys510=)	not provided [RCV002583631]	likely benign	1	235448708	235448708	Human		name
156298060	CV1955408	single nucleotide variant	NM_003193.5(TBCE):c.1056G>A (p.Glu352=)	not provided [RCV002578099]	likely benign	1	235437414	235437414	Human		name
156338507	CV1964095	single nucleotide variant	NM_003193.5(TBCE):c.251C>T (p.Ala84Val)	not provided [RCV002580376]	uncertain significance	1	235414498	235414498	Human		name
156412097	CV1969198	single nucleotide variant	NM_003193.5(TBCE):c.1002A>G (p.Leu334=)	not provided [RCV002587704]	likely benign	1	235437360	235437360	Human		name
156353646	CV1985852	single nucleotide variant	NM_003193.5(TBCE):c.1398G>T (p.Pro466=)	not provided [RCV002632165]	uncertain significance	1	235442910	235442910	Human		name
156237499	CV1992407	single nucleotide variant	NM_003193.5(TBCE):c.215C>T (p.Pro72Leu)	Inborn genetic diseases [RCV005281205]\|not provided [RCV002627020]	uncertain significance	1	235414462	235414462	Human	1	name
156229368	CV2019619	single nucleotide variant	NM_003193.5(TBCE):c.1429T>C (p.Leu477=)	not provided [RCV002701300]	likely benign	1	235448378	235448378	Human		name
156319402	CV2025228	single nucleotide variant	NM_003193.5(TBCE):c.1419G>A (p.Lys473=)	not provided [RCV002716993]	likely benign	1	235448368	235448368	Human		name
156090446	CV2034382	single nucleotide variant	NM_003193.5(TBCE):c.135G>C (p.Glu45Asp)	not provided [RCV002760925]	uncertain significance	1	235401537	235401537	Human		name
155904346	CV2047968	single nucleotide variant	NM_003193.5(TBCE):c.1077C>T (p.Ile359=)	not provided [RCV002771173]	likely benign	1	235437435	235437435	Human		name
155922688	CV2073776	single nucleotide variant	NM_003193.5(TBCE):c.1473G>A (p.Leu491=)	not provided [RCV002838388]	likely benign	1	235448422	235448422	Human		name
155923916	CV2148664	single nucleotide variant	NM_003193.5(TBCE):c.211C>T (p.Arg71Cys)	not provided [RCV003013318]	uncertain significance	1	235414458	235414458	Human		name
156125716	CV2176021	single nucleotide variant	NM_003193.5(TBCE):c.1362T>C (p.His454=)	not provided [RCV003039494]	likely benign	1	235442874	235442874	Human		name
11632535	CV266305	single nucleotide variant	NM_003193.5(TBCE):c.253A>G (p.Ile85Val)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000265978]\|TBCE-related disorder [RCV004547665]\|not provided [RCV000431082]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	235414500	235414500	Human	1	name , trait , alternate_id
11638747	CV269187	single nucleotide variant	NM_003193.5(TBCE):c.194C>A (p.Thr65Lys)	TBCE-related disorder [RCV004547694]\|not provided [RCV000970946]\|not specified [RCV000309356]	likely benign\|conflicting interpretations of pathogenicity	1	235414441	235414441	Human		name , trait , alternate_id
11633673	CV270614	single nucleotide variant	NM_003193.5(TBCE):c.214C>T (p.Pro72Ser)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000358245]\|TBCE-related disorder [RCV004737417]\|not provided [RCV000974002]\|not specified [RCV000354837]	benign\|likely benign\|uncertain significance	1	235414461	235414461	Human	1	name , trait , alternate_id
11632979	CV279872	single nucleotide variant	NM_003193.5(TBCE):c.1125C>T (p.Pro375=)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000301622]\|not provided [RCV003114466]	likely benign\|uncertain significance	1	235438777	235438777	Human	1	name
11634047	CV281239	single nucleotide variant	NM_003193.5(TBCE):c.1068A>G (p.Leu356=)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000393509]\|not provided [RCV001510160]\|not specified [RCV001699340]	benign\|likely benign	1	235437426	235437426	Human	1	name
11632975	CV281240	single nucleotide variant	NM_003193.5(TBCE):c.1263C>G (p.Leu421=)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000301320]\|not provided [RCV000909049]	likely benign\|uncertain significance	1	235438915	235438915	Human	1	name
11633457	CV281297	single nucleotide variant	NM_003193.5(TBCE):c.1050A>G (p.Glu350=)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000341298]\|not provided [RCV000966789]\|not specified [RCV001820850]	benign\|uncertain significance	1	235437408	235437408	Human	1	name
401936971	CV2816241	single nucleotide variant	NM_003193.5(TBCE):c.1224C>T (p.Ser408=)	TBCE-related disorder [RCV004738737]\|not provided [RCV003414967]	likely benign	1	235438876	235438876	Human		name , trait , alternate_id
402486753	CV2865404	single nucleotide variant	NM_003193.5(TBCE):c.1128G>A (p.Glu376=)	not provided [RCV003544546]	likely benign	1	235438780	235438780	Human		name
402488430	CV2865546	single nucleotide variant	NM_003193.5(TBCE):c.1065A>G (p.Arg355=)	not provided [RCV003544601]	likely benign	1	235437423	235437423	Human		name
405194904	CV2868639	single nucleotide variant	NM_003193.5(TBCE):c.1020A>G (p.Leu340=)	not provided [RCV003550740]	likely benign	1	235437378	235437378	Human		name
405095716	CV2874766	single nucleotide variant	NM_003193.5(TBCE):c.1539G>A (p.Gln513=)	not provided [RCV003550153]	likely benign	1	235448717	235448717	Human		name
405186175	CV2920571	single nucleotide variant	NM_003193.5(TBCE):c.1083C>T (p.Ser361=)	not provided [RCV003564375]	likely benign	1	235437441	235437441	Human		name
405036661	CV2932778	single nucleotide variant	NM_003193.5(TBCE):c.1164T>C (p.Ala388=)	not provided [RCV003578756]	likely benign	1	235438816	235438816	Human		name
405071599	CV2941063	single nucleotide variant	NM_003193.5(TBCE):c.1425G>A (p.Lys475=)	not provided [RCV003664014]	likely benign	1	235448374	235448374	Human		name
405074117	CV2941301	single nucleotide variant	NM_003193.5(TBCE):c.1401C>T (p.Gly467=)	not provided [RCV003664160]	likely benign	1	235448350	235448350	Human		name
405111356	CV2942193	deletion	NM_003193.5(TBCE):c.700del (p.Leu234fs)	not provided [RCV003666348]	pathogenic	1	235434243	235434243	Human		name
405068788	CV2944664	single nucleotide variant	NM_003193.5(TBCE):c.1122C>T (p.Leu374=)	not provided [RCV003663826]	likely benign	1	235438774	235438774	Human		name
402485622	CV2945040	single nucleotide variant	NM_003193.5(TBCE):c.1455T>C (p.Pro485=)	not provided [RCV003660043]	likely benign	1	235448404	235448404	Human		name
405121719	CV2954032	single nucleotide variant	NM_003193.5(TBCE):c.1393C>T (p.Leu465=)	not provided [RCV003667515]	likely benign	1	235442905	235442905	Human		name
405150856	CV2956940	single nucleotide variant	NM_003193.5(TBCE):c.1428A>T (p.Gly476=)	not provided [RCV003669989]	likely benign	1	235448377	235448377	Human		name
405150937	CV2959756	single nucleotide variant	NM_003193.5(TBCE):c.1416A>G (p.Gln472=)	not provided [RCV003674006]	likely benign	1	235448365	235448365	Human		name
405237474	CV2969923	single nucleotide variant	NM_003193.5(TBCE):c.1569A>G (p.Leu523=)	not provided [RCV003683334]	likely benign	1	235448747	235448747	Human		name
405192550	CV2974936	deletion	NM_003193.5(TBCE):c.470del (p.Lys157fs)	not provided [RCV003677340]	pathogenic	1	235427147	235427147	Human		name
402477907	CV2980145	single nucleotide variant	NM_003193.5(TBCE):c.1336C>T (p.Leu446=)	not provided [RCV003686263]	likely benign	1	235441879	235441879	Human		name
405010957	CV2983698	duplication	NM_003193.5(TBCE):c.908dup (p.Ser304fs)	not provided [RCV003693976]	pathogenic	1	235436552	235436553	Human		name
405247890	CV2984043	single nucleotide variant	NM_003193.5(TBCE):c.1077C>A (p.Ile359=)	not provided [RCV003720945]	likely benign	1	235437435	235437435	Human		name
402496143	CV2988650	single nucleotide variant	NM_003193.5(TBCE):c.1443T>C (p.Leu481=)	not provided [RCV003714277]	likely benign	1	235448392	235448392	Human		name
402508830	CV2998321	single nucleotide variant	NM_003193.5(TBCE):c.1497G>T (p.Pro499=)	not provided [RCV003689339]	likely benign	1	235448675	235448675	Human		name
405241247	CV3004718	single nucleotide variant	NM_003193.5(TBCE):c.1254C>T (p.Tyr418=)	not provided [RCV003719255]	likely benign	1	235438906	235438906	Human		name
402496252	CV3005831	single nucleotide variant	NM_003193.5(TBCE):c.1500C>A (p.Gly500=)	not provided [RCV003688040]	likely benign	1	235448678	235448678	Human		name
405041876	CV3007365	single nucleotide variant	NM_003193.5(TBCE):c.1578A>G (p.Arg526=)	not provided [RCV003696285]	likely benign	1	235448756	235448756	Human		name
405224588	CV3035883	single nucleotide variant	NM_003193.5(TBCE):c.1170A>G (p.Gly390=)	not provided [RCV003710390]	likely benign	1	235438822	235438822	Human		name
405209745	CV3062131	single nucleotide variant	NM_003193.5(TBCE):c.1093C>T (p.Leu365=)	not provided [RCV003731826]	likely benign	1	235437451	235437451	Human		name
404996970	CV3123831	single nucleotide variant	NM_003193.5(TBCE):c.1560A>G (p.Gly520=)	not provided [RCV003827738]	likely benign	1	235448738	235448738	Human		name
404978660	CV3127649	single nucleotide variant	NM_003193.5(TBCE):c.1194A>T (p.Gly398=)	not provided [RCV003825681]	likely benign	1	235438846	235438846	Human		name
405200453	CV3128815	single nucleotide variant	NM_003193.5(TBCE):c.1257G>A (p.Gln419=)	not provided [RCV003821858]	likely benign	1	235438909	235438909	Human		name
405132464	CV3130097	single nucleotide variant	NM_003193.5(TBCE):c.1014C>T (p.Ser338=)	not provided [RCV003838520]	likely benign	1	235437372	235437372	Human		name
405137323	CV3130614	single nucleotide variant	NM_003193.5(TBCE):c.1509C>T (p.Ile503=)	not provided [RCV003838847]	likely benign	1	235448687	235448687	Human		name
405203066	CV3143928	single nucleotide variant	NM_003193.5(TBCE):c.1570T>C (p.Leu524=)	not provided [RCV003844718]	likely benign	1	235448748	235448748	Human		name
405143919	CV3155739	single nucleotide variant	NM_003193.5(TBCE):c.1203T>C (p.Asp401=)	not provided [RCV003855781]	likely benign	1	235438855	235438855	Human		name
405223913	CV3158494	single nucleotide variant	NM_003193.5(TBCE):c.1182A>G (p.Lys394=)	not provided [RCV003863990]	likely benign	1	235438834	235438834	Human		name
405129263	CV3163218	single nucleotide variant	NM_003193.5(TBCE):c.1029C>G (p.Pro343=)	not provided [RCV003854399]	likely benign	1	235437387	235437387	Human		name
405239227	CV3165865	single nucleotide variant	NM_003193.5(TBCE):c.1296A>G (p.Glu432=)	not provided [RCV003866877]	likely benign	1	235441839	235441839	Human		name
402478782	CV3170234	single nucleotide variant	NM_003193.5(TBCE):c.1018C>T (p.Leu340=)	not provided [RCV003875622]	likely benign	1	235437376	235437376	Human		name
402472832	CV3172052	single nucleotide variant	NM_003193.5(TBCE):c.1041G>A (p.Glu347=)	not provided [RCV003874655]	likely benign	1	235437399	235437399	Human		name
402502107	CV3180970	single nucleotide variant	NM_003193.5(TBCE):c.1557T>C (p.Asn519=)	not provided [RCV003877987]	likely benign	1	235448735	235448735	Human		name
407512623	CV3485674	single nucleotide variant	NM_003193.5(TBCE):c.149A>G (p.Asp50Gly)	Inborn genetic diseases [RCV004673495]	uncertain significance	1	235401551	235401551	Human	1	name
597758879	CV3715769	deletion	NM_003193.5(TBCE):c.736del (p.Arg246fs)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV005017899]	likely pathogenic	1	235434277	235434277	Human	1	name
597847453	CV3746357	single nucleotide variant	NM_003193.5(TBCE):c.146A>C (p.His49Pro)	not provided [RCV005060175]	uncertain significance	1	235401548	235401548	Human		name
597926180	CV3772715	deletion	NM_003193.5(TBCE):c.819del (p.Ile273fs)	not provided [RCV005115865]	pathogenic	1	235435826	235435826	Human		name
597878526	CV3783124	deletion	NM_003193.5(TBCE):c.450del (p.Ala151fs)	not provided [RCV005123826]	pathogenic	1	235419550	235419550	Human		name
597942884	CV3786328	single nucleotide variant	NM_003193.5(TBCE):c.1404C>T (p.Ser468=)	not provided [RCV005134019]	likely benign	1	235448353	235448353	Human		name
597937336	CV3787861	deletion	NM_003193.5(TBCE):c.689del (p.Gly230fs)	not provided [RCV005132740]	pathogenic	1	235434231	235434231	Human		name
597830968	CV3820168	single nucleotide variant	NM_003193.5(TBCE):c.1065A>T (p.Arg355=)	not provided [RCV005169946]	likely benign	1	235437423	235437423	Human		name
597954046	CV3844328	single nucleotide variant	NM_003193.5(TBCE):c.1308G>A (p.Gln436=)	not provided [RCV005191001]	likely benign	1	235441851	235441851	Human		name
598208521	CV3912966	single nucleotide variant	NM_003193.5(TBCE):c.265T>C (p.Tyr89His)	Inborn genetic diseases [RCV005291500]	uncertain significance	1	235414512	235414512	Human	1	name
13523342	CV491545	single nucleotide variant	NM_003193.5(TBCE):c.244C>A (p.Leu82Ile)	not provided [RCV000592871]	uncertain significance	1	235414491	235414491	Human		name
13532210	CV511247	single nucleotide variant	NM_003193.5(TBCE):c.101G>C (p.Gly34Ala)	Inborn genetic diseases [RCV000624008]	likely pathogenic	1	235401503	235401503	Human	1	name
13833207	CV584436	single nucleotide variant	NM_003193.5(TBCE):c.191C>T (p.Pro64Leu)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001099438]\|not provided [RCV000898232]\|not specified [RCV000728395]	likely benign	1	235414438	235414438	Human	1	name
13833216	CV584445	single nucleotide variant	NM_003193.5(TBCE):c.281G>A (p.Gly94Glu)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001099439]\|not provided [RCV001457327]\|not specified [RCV000728405]	likely benign	1	235414528	235414528	Human	1	name
15164819	CV707221	single nucleotide variant	NM_003193.5(TBCE):c.1497G>A (p.Pro499=)	TBCE-related disorder [RCV004738106]\|not provided [RCV000970813]	benign\|likely benign	1	235448675	235448675	Human		name , trait , alternate_id
15176210	CV732276	single nucleotide variant	NM_003193.5(TBCE):c.1215C>T (p.Asn405=)	not provided [RCV000906382]	likely benign	1	235438867	235438867	Human		name
15104009	CV746289	single nucleotide variant	NM_003193.5(TBCE):c.1062G>A (p.Ala354=)	not provided [RCV000915272]	likely benign	1	235437420	235437420	Human		name
15201398	CV746290	single nucleotide variant	NM_003193.5(TBCE):c.1290T>C (p.Asp430=)	not provided [RCV000913128]	likely benign	1	235441833	235441833	Human		name
15115135	CV761715	single nucleotide variant	NM_003193.5(TBCE):c.1566T>C (p.Cys522=)	not provided [RCV000939434]	likely benign	1	235448744	235448744	Human		name
126726973	CV1015680	single nucleotide variant	NM_003193.5(TBCE):c.527A>T (p.Asp176Val)	Encephalopathy, progressive, with amyotrophy and optic atrophy [RCV001332241]	uncertain significance	1	235427206	235427206	Human	1	name
126726975	CV1015681	single nucleotide variant	NM_003193.5(TBCE):c.529C>A (p.Gln177Lys)	Encephalopathy, progressive, with amyotrophy and optic atrophy [RCV001332242]	uncertain significance	1	235427208	235427208	Human	1	name
126746840	CV1023044	single nucleotide variant	NM_003193.5(TBCE):c.569A>C (p.Lys190Thr)	Inborn genetic diseases [RCV004036661]\|TBCE-related disorder [RCV004738263]\|not provided [RCV001351583]	uncertain significance	1	235430713	235430713	Human	1	name , trait , alternate_id
150411830	CV1195885	single nucleotide variant	NM_003193.5(TBCE):c.917T>C (p.Phe306Ser)	not provided [RCV001573852]	uncertain significance	1	235436562	235436562	Human		name
150491320	CV1225284	duplication	NM_003193.5(TBCE):c.1400-111_1400-109dup	not provided [RCV001618799]	benign	1	235448220	235448221	Human		name
150481126	CV1239720	duplication	NM_003193.5(TBCE):c.1400-110_1400-109dup	not provided [RCV001652883]	benign	1	235448220	235448221	Human		name
150494483	CV1267360	duplication	NM_003193.5(TBCE):c.1117-208_1117-206dup	not provided [RCV001688388]	benign	1	235438552	235438553	Human		name
151812064	CV1349528	single nucleotide variant	NM_003193.5(TBCE):c.795T>G (p.Ile265Met)	not provided [RCV001974873]	uncertain significance	1	235435802	235435802	Human		name
151843399	CV1357913	single nucleotide variant	NM_003193.5(TBCE):c.581C>T (p.Pro194Leu)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV002482684]\|Inborn genetic diseases [RCV002552952]\|not provided [RCV001881637]	uncertain significance	1	235430725	235430725	Human	2	name
151844335	CV1363427	single nucleotide variant	NM_003193.5(TBCE):c.667C>G (p.Arg223Gly)	not provided [RCV002032206]	uncertain significance	1	235434210	235434210	Human		name
151882822	CV1383941	single nucleotide variant	NM_003193.5(TBCE):c.908C>T (p.Thr303Met)	not provided [RCV001886805]	uncertain significance	1	235436553	235436553	Human		name
151824510	CV1442610	single nucleotide variant	NM_003193.5(TBCE):c.793A>G (p.Ile265Val)	Inborn genetic diseases [RCV002545523]\|not provided [RCV002013711]	uncertain significance	1	235435800	235435800	Human	1	name
151838437	CV1501390	single nucleotide variant	NM_003193.5(TBCE):c.309T>G (p.Ile103Met)	not provided [RCV001977403]	uncertain significance	1	235414556	235414556	Human		name
152116233	CV1566832	single nucleotide variant	NM_003193.5(TBCE):c.915G>C (p.Met305Ile)	not provided [RCV002097526]	likely benign	1	235436560	235436560	Human		name
155643552	CV1707923	single nucleotide variant	NM_003193.5(TBCE):c.786T>G (p.Asn262Lys)	Autosomal recessive Kenny-Caffey syndrome [RCV002289384]\|not provided [RCV005415640]	uncertain significance	1	235435793	235435793	Human	1	name
155687408	CV1777735	single nucleotide variant	NM_003193.5(TBCE):c.710A>C (p.Glu237Ala)	not provided [RCV002299104]	uncertain significance	1	235434253	235434253	Human		name
10049702	CV190815	single nucleotide variant	NM_003193.5(TBCE):c.847A>T (p.Ile283Phe)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000290879]\|Hypoparathyroidism-retardation-dysmorphism syndrome [RCV005396524]\|Inborn genetic diseases [RCV002516598]\|not provided [RCV000173771]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	235436399	235436399	Human	2	name
156144379	CV1922808	single nucleotide variant	NM_003193.5(TBCE):c.454T>C (p.Cys152Arg)	not provided [RCV002623777]	uncertain significance	1	235419555	235419555	Human		name
156409588	CV1961859	single nucleotide variant	NM_003193.5(TBCE):c.884C>T (p.Pro295Leu)	not provided [RCV002586867]	uncertain significance	1	235436436	235436436	Human		name
156131618	CV1977068	single nucleotide variant	NM_003193.5(TBCE):c.825C>G (p.His275Gln)	not provided [RCV002593516]	uncertain significance	1	235435832	235435832	Human		name
156011825	CV1988156	single nucleotide variant	NM_003193.5(TBCE):c.569A>T (p.Lys190Ile)	not provided [RCV002618945]	uncertain significance	1	235430713	235430713	Human		name
156233753	CV1999479	single nucleotide variant	NM_003193.5(TBCE):c.854C>T (p.Ser285Phe)	not provided [RCV002667680]	uncertain significance	1	235436406	235436406	Human		name
156304628	CV1999758	single nucleotide variant	NM_003193.5(TBCE):c.635A>G (p.Asn212Ser)	not provided [RCV002671322]	uncertain significance	1	235430779	235430779	Human		name
156357332	CV2006681	single nucleotide variant	NM_003193.5(TBCE):c.629T>C (p.Val210Ala)	Inborn genetic diseases [RCV005281215]\|not provided [RCV002676016]	uncertain significance	1	235430773	235430773	Human	1	name
156368361	CV2021100	single nucleotide variant	NM_003193.5(TBCE):c.555T>G (p.Asn185Lys)	not provided [RCV002721339]	uncertain significance	1	235427234	235427234	Human		name
8558596	CV20330	deletion	NM_003193.5(TBCE):c.66_67del (p.Val23fs)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000005610]\|not provided [RCV001390254]	pathogenic	1	235380115	235380116	Human	1	name
156009354	CV2075426	single nucleotide variant	NM_003193.5(TBCE):c.467G>A (p.Arg156Lys)	not provided [RCV002843788]	uncertain significance	1	235427146	235427146	Human		name
155982093	CV2098147	single nucleotide variant	NM_003193.5(TBCE):c.965G>C (p.Trp322Ser)	not provided [RCV002907757]	uncertain significance	1	235437323	235437323	Human		name
156331359	CV2187971	single nucleotide variant	NM_003193.5(TBCE):c.353C>G (p.Ser118Cys)	not provided [RCV003063717]	uncertain significance	1	235414600	235414600	Human		name
156055592	CV2269658	single nucleotide variant	NM_003193.5(TBCE):c.653G>A (p.Trp218Ter)	Inborn genetic diseases [RCV002822573]	pathogenic	1	235430797	235430797	Human	1	name
155917716	CV2332867	single nucleotide variant	NM_003193.5(TBCE):c.605C>T (p.Thr202Met)	Inborn genetic diseases [RCV002968933]	uncertain significance	1	235430749	235430749	Human	1	name
11350595	CV236949	single nucleotide variant	NM_003193.5(TBCE):c.998G>C (p.Ser333Thr)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000308505]\|not provided [RCV000224040]	benign\|likely benign	1	235437356	235437356	Human	1	name
155956410	CV2387284	single nucleotide variant	NM_003193.5(TBCE):c.547G>T (p.Val183Phe)	Inborn genetic diseases [RCV002753565]	uncertain significance	1	235427226	235427226	Human	1	name
243062884	CV2413976	single nucleotide variant	NM_003193.5(TBCE):c.650C>T (p.Thr217Met)	not provided [RCV003140895]	uncertain significance	1	235430794	235430794	Human		name
243062885	CV2413977	single nucleotide variant	NM_003193.5(TBCE):c.700C>A (p.Leu234Ile)	not provided [RCV003140896]	uncertain significance	1	235434243	235434243	Human		name
243054284	CV2418530	single nucleotide variant	NM_003193.5(TBCE):c.850C>G (p.Leu284Val)	not provided [RCV003154527]	uncertain significance	1	235436402	235436402	Human		name
329377428	CV2453294	single nucleotide variant	NM_003193.5(TBCE):c.752T>C (p.Leu251Pro)	Inborn genetic diseases [RCV003186382]	uncertain significance	1	235435759	235435759	Human	1	name
329385604	CV2462089	single nucleotide variant	NM_003193.5(TBCE):c.958T>C (p.Ser320Pro)	Inborn genetic diseases [RCV003214486]	uncertain significance	1	235436603	235436603	Human	1	name
329374969	CV2470861	single nucleotide variant	NM_003193.5(TBCE):c.540C>A (p.His180Gln)	Inborn genetic diseases [RCV003210991]	uncertain significance	1	235427219	235427219	Human	1	name
329954839	CV2670771	single nucleotide variant	NM_003193.5(TBCE):c.425C>T (p.Ala142Val)	not provided [RCV003236039]	uncertain significance	1	235419526	235419526	Human		name
11636410	CV268573	single nucleotide variant	NM_003193.5(TBCE):c.446C>G (p.Ala149Gly)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001099440]\|not provided [RCV000268210]	uncertain significance	1	235419547	235419547	Human	1	name
11633184	CV279617	single nucleotide variant	NM_003193.5(TBCE):c.614T>C (p.Val205Ala)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000317479]\|not provided [RCV000974898]\|not specified [RCV001699430]	benign\|likely benign	1	235430758	235430758	Human	1	name
11633195	CV281238	single nucleotide variant	NM_003193.5(TBCE):c.422G>A (p.Cys141Tyr)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000318538]\|Inborn genetic diseases [RCV004965384]	uncertain significance	1	235419523	235419523	Human	2	name
402515859	CV2855657	single nucleotide variant	NM_003193.5(TBCE):c.961C>T (p.Gln321Ter)	not provided [RCV003547332]	pathogenic	1	235436606	235436606	Human		name
405197855	CV2880408	single nucleotide variant	NM_003193.5(TBCE):c.654G>A (p.Trp218Ter)	not provided [RCV003551070]	pathogenic	1	235430798	235430798	Human		name
405155213	CV2890541	single nucleotide variant	NM_003193.5(TBCE):c.626T>G (p.Leu209Ter)	not provided [RCV003561998]	pathogenic	1	235430770	235430770	Human		name
405135135	CV2896821	single nucleotide variant	NM_003193.5(TBCE):c.433A>T (p.Lys145Ter)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV005014791]\|not provided [RCV003560355]	pathogenic\|likely pathogenic	1	235419534	235419534	Human	1	name
405204546	CV2912513	single nucleotide variant	NM_003193.5(TBCE):c.733G>T (p.Glu245Ter)	not provided [RCV003566330]	pathogenic	1	235434276	235434276	Human		name
405190654	CV2924627	deletion	NM_003193.5(TBCE):c.1253del (p.Tyr418fs)	not provided [RCV003564815]	pathogenic	1	235438905	235438905	Human		name
405065250	CV2927479	single nucleotide variant	NM_003193.5(TBCE):c.512T>A (p.Val171Glu)	not provided [RCV003580768]	uncertain significance	1	235427191	235427191	Human		name
402482362	CV2940891	single nucleotide variant	NM_003193.5(TBCE):c.373C>T (p.Gln125Ter)	not provided [RCV003659761]	pathogenic	1	235419474	235419474	Human		name
405016695	CV2991668	deletion	NM_003193.5(TBCE):c.1294del (p.Glu432fs)	not provided [RCV003694469]	pathogenic	1	235441835	235441835	Human		name
404999233	CV3008762	single nucleotide variant	NM_003193.5(TBCE):c.836T>G (p.Leu279Ter)	not provided [RCV003692893]	pathogenic	1	235436388	235436388	Human		name
405144879	CV3126194	deletion	NM_003193.5(TBCE):c.1025del (p.Asn342fs)	not provided [RCV003817110]	pathogenic	1	235437381	235437381	Human		name
405192827	CV3157144	deletion	NM_003193.5(TBCE):c.1183del (p.Gln395fs)	not provided [RCV003859832]	pathogenic	1	235438835	235438835	Human		name
405791179	CV3335366	single nucleotide variant	NM_003193.5(TBCE):c.359T>G (p.Met120Arg)	Inborn genetic diseases [RCV004474128]	uncertain significance	1	235414606	235414606	Human	1	name
405791183	CV3335367	single nucleotide variant	NM_003193.5(TBCE):c.701T>C (p.Leu234Pro)	Inborn genetic diseases [RCV004474129]	uncertain significance	1	235434244	235434244	Human	1	name
12738850	CV359106	single nucleotide variant	NM_003193.5(TBCE):c.464T>A (p.Ile155Asn)	Encephalopathy, progressive, with amyotrophy and optic atrophy [RCV000412509]\|TBCE-related disorder [RCV005407084]\|not provided [RCV001569082]	pathogenic\|likely pathogenic	1	235427143	235427143	Human	1	name , trait , alternate_id
597640014	CV3619208	single nucleotide variant	NM_003193.5(TBCE):c.308T>C (p.Ile103Thr)	Inborn genetic diseases [RCV004971367]	uncertain significance	1	235414555	235414555	Human	1	name
597714328	CV3715744	single nucleotide variant	NM_003193.5(TBCE):c.389A>G (p.Gln130Arg)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV005010069]	uncertain significance	1	235419490	235419490	Human	1	name
597888364	CV3739251	duplication	NM_003193.5(TBCE):c.1214dup (p.Asn405fs)	not provided [RCV005070798]	pathogenic	1	235438859	235438860	Human		name
597931289	CV3780339	single nucleotide variant	NM_003193.5(TBCE):c.367C>T (p.Gln123Ter)	not provided [RCV005116659]	pathogenic	1	235414614	235414614	Human		name
597884550	CV3780615	duplication	NM_003193.5(TBCE):c.1337dup (p.Thr447fs)	not provided [RCV005124743]	pathogenic	1	235441879	235441880	Human		name
597912297	CV3834190	deletion	NM_003193.5(TBCE):c.1214del (p.Asn405fs)	not provided [RCV005182952]	pathogenic	1	235438860	235438860	Human		name
597915893	CV3860927	single nucleotide variant	NM_003193.5(TBCE):c.813T>G (p.Tyr271Ter)	not provided [RCV005204290]	pathogenic	1	235435820	235435820	Human		name
598163182	CV3912960	single nucleotide variant	NM_003193.5(TBCE):c.586G>A (p.Gly196Ser)	Inborn genetic diseases [RCV005283068]	uncertain significance	1	235430730	235430730	Human	1	name
598196967	CV3912962	single nucleotide variant	NM_003193.5(TBCE):c.954G>T (p.Gln318His)	Inborn genetic diseases [RCV005289514]	uncertain significance	1	235436599	235436599	Human	1	name
598196977	CV3912964	single nucleotide variant	NM_003193.5(TBCE):c.495G>C (p.Leu165Phe)	Inborn genetic diseases [RCV005289516]	uncertain significance	1	235427174	235427174	Human	1	name
13592703	CV513240	single nucleotide variant	NM_003193.5(TBCE):c.332T>G (p.Val111Gly)	Encephalopathy, progressive, with amyotrophy and optic atrophy [RCV000625912]	likely pathogenic	1	235414579	235414579	Human	1	name
13831958	CV582455	single nucleotide variant	NM_003193.5(TBCE):c.841C>T (p.Gln281Ter)	not provided [RCV000722643]	pathogenic\|uncertain significance	1	235436393	235436393	Human		name
13833553	CV584788	single nucleotide variant	NM_003193.5(TBCE):c.334G>A (p.Glu112Lys)	not provided [RCV000728848]	uncertain significance	1	235414581	235414581	Human		name
13838430	CV589733	single nucleotide variant	NM_003193.5(TBCE):c.394G>A (p.Val132Ile)	TBCE-related disorder [RCV004547941]\|not provided [RCV000735123]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	235419495	235419495	Human		name , trait , alternate_id
15113552	CV718804	single nucleotide variant	NM_003193.5(TBCE):c.667C>T (p.Arg223Trp)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV001101431]\|not provided [RCV000894687]	likely benign	1	235434210	235434210	Human	1	name
28878809	CV858921	deletion	NM_003193.5(TBCE):c.1038del (p.Glu347fs)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV005359861]\|not provided [RCV001090704]	likely pathogenic	1	235437394	235437394	Human	1	name
126761388	CV987304	single nucleotide variant	NM_003193.5(TBCE):c.764A>G (p.Lys255Arg)	not provided [RCV001300076]	uncertain significance	1	235435771	235435771	Human		name
126742596	CV1019326	single nucleotide variant	NM_003193.5(TBCE):c.1189G>A (p.Gly397Ser)	Encephalopathy, progressive, with amyotrophy and optic atrophy [RCV001336549]\|Inborn genetic diseases [RCV005286417]\|not provided [RCV003120565]	uncertain significance	1	235438841	235438841	Human	2	name
126921517	CV1039895	single nucleotide variant	NM_003193.5(TBCE):c.1174G>A (p.Glu392Lys)	not provided [RCV001363587]	uncertain significance	1	235438826	235438826	Human		name
151846699	CV1368566	single nucleotide variant	NM_003193.5(TBCE):c.1220T>C (p.Leu407Pro)	not provided [RCV001936802]	uncertain significance	1	235438872	235438872	Human		name
151715061	CV1388945	single nucleotide variant	NM_003193.5(TBCE):c.1439G>A (p.Arg480His)	Inborn genetic diseases [RCV002571319]\|not provided [RCV002002770]	uncertain significance	1	235448388	235448388	Human	1	name
151711644	CV1395153	single nucleotide variant	NM_003193.5(TBCE):c.1397C>G (p.Pro466Arg)	not provided [RCV001964421]	uncertain significance	1	235442909	235442909	Human		name
151763734	CV1407569	single nucleotide variant	NM_003193.5(TBCE):c.1148T>C (p.Leu383Pro)	not provided [RCV002044565]	uncertain significance	1	235438800	235438800	Human		name
151788922	CV1434337	single nucleotide variant	NM_003193.5(TBCE):c.1135C>T (p.Arg379Trp)	not provided [RCV001876320]	uncertain significance	1	235438787	235438787	Human		name
151712509	CV1444692	single nucleotide variant	NM_003193.5(TBCE):c.1058C>T (p.Thr353Met)	not provided [RCV001964574]	uncertain significance	1	235437416	235437416	Human		name
151840235	CV1508106	single nucleotide variant	NM_003193.5(TBCE):c.1196A>G (p.His399Arg)	Inborn genetic diseases [RCV003250355]\|not provided [RCV001956657]	uncertain significance	1	235438848	235438848	Human	1	name
155983089	CV1887137	single nucleotide variant	NM_003193.5(TBCE):c.1100C>T (p.Thr367Met)	Inborn genetic diseases [RCV004071921]\|not provided [RCV003075756]	uncertain significance	1	235437458	235437458	Human	1	name
156418244	CV1914616	single nucleotide variant	NM_003193.5(TBCE):c.1438C>T (p.Arg480Cys)	not provided [RCV002611423]	uncertain significance	1	235448387	235448387	Human		name
156392836	CV1987782	single nucleotide variant	NM_003193.5(TBCE):c.1141G>A (p.Ala381Thr)	not provided [RCV002635156]	uncertain significance	1	235438793	235438793	Human		name
156114292	CV2018690	single nucleotide variant	NM_003193.5(TBCE):c.1004G>A (p.Arg335Gln)	not provided [RCV002695790]	uncertain significance	1	235437362	235437362	Human		name
156205955	CV2021461	deletion	NM_003193.5(TBCE):c.1493delA (p.Lys498fs)	not provided [RCV002711572]	uncertain significance	1	235448670	235448670	Human		name
8558597	CV20331	single nucleotide variant	NM_003193.5(TBCE):c.1113T>A (p.Cys371Ter)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000005611]	pathogenic	1	235437471	235437471	Human	1	name
156020022	CV2058891	single nucleotide variant	NM_003193.5(TBCE):c.1433T>C (p.Leu478Pro)	not provided [RCV002820571]	uncertain significance	1	235448382	235448382	Human		name
156264797	CV2129020	single nucleotide variant	NM_003193.5(TBCE):c.1465C>G (p.Leu489Val)	not provided [RCV002934013]	uncertain significance	1	235448414	235448414	Human		name
156032308	CV2156506	single nucleotide variant	NM_003193.5(TBCE):c.1049A>G (p.Glu350Gly)	not provided [RCV003018725]	uncertain significance	1	235437407	235437407	Human		name
156143584	CV2178634	single nucleotide variant	NM_003193.5(TBCE):c.1042G>A (p.Asp348Asn)	not provided [RCV003040126]	uncertain significance	1	235437400	235437400	Human		name
155973746	CV2239025	single nucleotide variant	NM_003193.5(TBCE):c.1139G>C (p.Arg380Thr)	Inborn genetic diseases [RCV002777077]	likely benign	1	235438791	235438791	Human	1	name
156087273	CV2388116	single nucleotide variant	NM_003193.5(TBCE):c.1157G>A (p.Arg386Gln)	Inborn genetic diseases [RCV002784089]	uncertain significance	1	235438809	235438809	Human	1	name
243062882	CV2413974	single nucleotide variant	NM_003193.5(TBCE):c.1107C>A (p.Asn369Lys)	not provided [RCV003140893]	uncertain significance	1	235437465	235437465	Human		name
243062883	CV2413975	single nucleotide variant	NM_003193.5(TBCE):c.1078G>A (p.Ala360Thr)	not provided [RCV003140894]	uncertain significance	1	235437436	235437436	Human		name
11633365	CV266503	single nucleotide variant	NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000332713]\|Hypoparathyroidism-retardation-dysmorphism syndrome [RCV005396869]\|not provided [RCV000303019]	conflicting interpretations of pathogenicity\|uncertain significance	1	235448414	235448414	Human	1	name
11634048	CV279629	single nucleotide variant	NM_003193.5(TBCE):c.1253A>G (p.Tyr418Cys)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000393559]\|not provided [RCV001298186]	uncertain significance	1	235438905	235438905	Human	1	name
11633679	CV279873	single nucleotide variant	NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000358804]\|not provided [RCV000974899]\|not specified [RCV001700036]	benign\|likely benign	1	235438878	235438878	Human	1	name
11632507	CV279874	single nucleotide variant	NM_003193.5(TBCE):c.1397C>T (p.Pro466Leu)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000261313]\|Microcephaly [RCV001252727]\|not provided [RCV001488419]\|not specified [RCV000728393]	likely benign\|uncertain significance	1	235442909	235442909	Human	3	name
11632655	CV279878	single nucleotide variant	NM_003193.5(TBCE):c.1577G>A (p.Arg526Gln)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000274200]\|TBCE-related disorder [RCV004549654]\|not provided [RCV000953169]\|not specified [RCV000504178]	benign\|likely benign\|uncertain significance	1	235448755	235448755	Human	1	name , trait , alternate_id
402469828	CV2931198	single nucleotide variant	NM_003193.5(TBCE):c.1225G>T (p.Glu409Ter)	not provided [RCV003570217]	pathogenic	1	235438877	235438877	Human		name
405119442	CV2957522	single nucleotide variant	NM_003193.5(TBCE):c.1228G>T (p.Glu410Ter)	not provided [RCV003667283]	pathogenic	1	235438880	235438880	Human		name
405226698	CV2967184	single nucleotide variant	NM_003193.5(TBCE):c.1090C>T (p.Gln364Ter)	not provided [RCV003681545]	pathogenic	1	235437448	235437448	Human		name
405243442	CV2971579	single nucleotide variant	NM_003193.5(TBCE):c.1156C>T (p.Arg386Ter)	not provided [RCV003684590]	pathogenic	1	235438808	235438808	Human		name
405125979	CV3043558	single nucleotide variant	NM_003193.5(TBCE):c.1217G>C (p.Arg406Thr)	not provided [RCV003724306]	uncertain significance	1	235438869	235438869	Human		name
405129949	CV3114962	single nucleotide variant	NM_003193.5(TBCE):c.1063C>T (p.Arg355Ter)	not provided [RCV003815807]	pathogenic	1	235437421	235437421	Human		name
405791172	CV3335364	single nucleotide variant	NM_003193.5(TBCE):c.1061C>T (p.Ala354Val)	Inborn genetic diseases [RCV004474126]	uncertain significance	1	235437419	235437419	Human	1	name
405791176	CV3335365	single nucleotide variant	NM_003193.5(TBCE):c.1128G>C (p.Glu376Asp)	Inborn genetic diseases [RCV004474127]	uncertain significance	1	235438780	235438780	Human	1	name
597639984	CV3619201	single nucleotide variant	NM_003193.5(TBCE):c.1573G>A (p.Val525Met)	Inborn genetic diseases [RCV004971361]	uncertain significance	1	235448751	235448751	Human	1	name
597639989	CV3619202	single nucleotide variant	NM_003193.5(TBCE):c.1136G>A (p.Arg379Gln)	Inborn genetic diseases [RCV004971362]	uncertain significance	1	235438788	235438788	Human	1	name
597639995	CV3619204	single nucleotide variant	NM_003193.5(TBCE):c.1456G>A (p.Val486Met)	Inborn genetic diseases [RCV004971363]	uncertain significance	1	235448405	235448405	Human	1	name
597640003	CV3619206	single nucleotide variant	NM_003193.5(TBCE):c.1561G>A (p.Asp521Asn)	Inborn genetic diseases [RCV004971365]	uncertain significance	1	235448739	235448739	Human	1	name
597640008	CV3619207	single nucleotide variant	NM_003193.5(TBCE):c.1347G>T (p.Lys449Asn)	Inborn genetic diseases [RCV004971366]	uncertain significance	1	235442859	235442859	Human	1	name
597640024	CV3619210	single nucleotide variant	NM_003193.5(TBCE):c.1331A>G (p.Gln444Arg)	Inborn genetic diseases [RCV004971369]	uncertain significance	1	235441874	235441874	Human	1	name
597968658	CV3791024	single nucleotide variant	NM_003193.5(TBCE):c.1426G>A (p.Gly476Arg)	not provided [RCV005141056]	uncertain significance	1	235448375	235448375	Human		name
598196958	CV3912959	single nucleotide variant	NM_003193.5(TBCE):c.1079C>A (p.Ala360Asp)	Inborn genetic diseases [RCV005289512]	uncertain significance	1	235437437	235437437	Human	1	name
598196981	CV3912965	single nucleotide variant	NM_003193.5(TBCE):c.1472T>C (p.Leu491Ser)	Inborn genetic diseases [RCV005289517]	uncertain significance	1	235448421	235448421	Human	1	name
598178773	CV4008489	single nucleotide variant	NM_003193.5(TBCE):c.1112G>A (p.Cys371Tyr)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV005394008]	uncertain significance	1	235437470	235437470	Human	1	name
13524138	CV491697	single nucleotide variant	NM_003193.5(TBCE):c.1571T>C (p.Leu524Ser)	not provided [RCV000593886]	uncertain significance	1	235448749	235448749	Human		name
13705984	CV537121	single nucleotide variant	NM_003193.5(TBCE):c.1183C>T (p.Gln395Ter)	not provided [RCV000658554]	likely pathogenic	1	235438835	235438835	Human		name
12907451	CV227212	deletion	NM_003193.5(TBCE):c.143_144del (p.Lys48fs)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000490495]\|Hypoparathyroidism-retardation-dysmorphism syndrome [RCV004796107]\|TBCE-related disorder [RCV005237730]\|not provided [RCV001782699]	pathogenic\|likely pathogenic	1	235401545	235401546	Human	3	name , trait , alternate_id
153000538	CV1683120	microsatellite	NM_003193.5(TBCE):c.636_639del (p.Asn212fs)	See cases [RCV002253130]\|not provided [RCV003669258]	pathogenic\|likely pathogenic	1	235430776	235430779	Human		name
405067760	CV3030932	deletion	NM_003193.5(TBCE):c.757_760del (p.Thr253fs)	not provided [RCV003698134]	pathogenic	1	235435761	235435764	Human		name
21072152	CV792714	deletion	NM_003193.5(TBCE):c.355_356del (p.Ile119fs)	Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000991360]	likely pathogenic	1	235414601	235414602	Human	1	name
150500919	CV1223595	insertion	NM_003193.5(TBCE):c.1399+273_1399+274insTATA	not provided [RCV001620716]	benign	1	235443183	235443184	Human		name
151348562	CV1324094	microsatellite	NM_003193.5(TBCE):c.1333CTA[1] (p.Leu446del)	Encephalopathy, progressive, with amyotrophy and optic atrophy [RCV001808007]	uncertain significance	1	235441876	235441878	Human		name
155796947	CV1863079	duplication	NM_003193.5(TBCE):c.1410_1434dup (p.Ser479fs)	Encephalopathy, progressive, with amyotrophy and optic atrophy [RCV002470353]	uncertain significance	1	235448358	235448359	Human	1	name
156319941	CV2071313	deletion	NM_003193.5(TBCE):c.1537_1538del (p.Gln513fs)	not provided [RCV002834628]	uncertain significance	1	235448714	235448715	Human		name
405014458	CV2930420	deletion	NM_003193.5(TBCE):c.1355_1362del (p.Tyr452fs)	not provided [RCV003577019]	pathogenic	1	235442865	235442872	Human		name
405127542	CV2954758	deletion	NM_003193.5(TBCE):c.1301_1307del (p.Lys434fs)	not provided [RCV003668070]	pathogenic	1	235441842	235441848	Human		name
405122263	CV3131673	microsatellite	NM_003193.5(TBCE):c.1306_1307del (p.Gln436fs)	not provided [RCV003837537]	pathogenic	1	235441846	235441847	Human		name
8558595	CV20329	deletion	NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)	Autosomal recessive Kenny-Caffey syndrome [RCV000191990]\|Encephalopathy, progressive, with amyotrophy and optic atrophy [RCV003989279]\|Hypoparathyroidism-retardation-dysmorphism syndrome [RCV000005608]\|TBCE-related disorder [RCV005256548]\|not provided [RCV000224 ... (more) 858]	pathogenic\|likely pathogenic	1	235401553	235401564	Human	3	name , trait , alternate_id
12738809	CV359105	deletion	NM_003193.5(TBCE):c.924del (p.Ser308_Leu309insTer)	Encephalopathy, progressive, with amyotrophy and optic atrophy [RCV000412635]\|TBCE-related disorder [RCV002298580]\|not provided [RCV003558367]	pathogenic	1	235436568	235436568	Human	1	name , trait , alternate_id
126761392	CV987305	deletion	NM_003193.5(TBCE):c.1523_1558del (p.Asp508_Asn519del)	not provided [RCV001300077]	uncertain significance	1	235448692	235448727	Human		name
596941974	CV3543918	indel	NM_003193.5(TBCE):c.1464_1475delinsACTTTGGA (p.Asp488fs)	not specified [RCV004799908]	uncertain significance	1	235448413	235448424	Human		name
11351052	CV237051	deletion	NM_001079515.2(TBCE):c.151_162delGGGAGCCACGAA (p.Ser52_Gly55del)	not provided [RCV000224858]	pathogenic	1	235401553	235401564	Human		name
405116443	CV2996451	microsatellite	NM_003193.5(TBCE):c.500_501insCCATGATGAAAAACCTGTTGTCATC (p.Trp168fs)	not provided [RCV003723333]	pathogenic	1	235427162	235427163	Human		name
151776207	CV1342566	duplication	NM_003193.5(TBCE):c.1423_1455dup (p.Pro485_Val486insLysGlyLeuLeuSerArgLeuLeuLysValPro)	Inborn genetic diseases [RCV002592651]\|not provided [RCV001988706]	uncertain significance	1	235448371	235448372	Human	1	name
405285129	CV3202488	single nucleotide variant	NM_001363644.2(TBCEL):c.436A>T (p.Ile146Leu)	TBCEL-related disorder [RCV003909750]	likely benign	11	121053713	121053713	Human		name , trait , alternate_id
597761972	CV3619215	single nucleotide variant	NM_001363644.2(TBCEL):c.10C>A (p.Pro4Thr)	not specified [RCV004869532]	uncertain significance	11	121045700	121045700	Human		name
401859858	CV2794418	single nucleotide variant	NM_001363644.2(TBCEL):c.74G>A (p.Arg25His)	not provided [RCV003387586]	uncertain significance	11	121045764	121045764	Human		name
156220232	CV2254130	single nucleotide variant	NM_001363644.2(TBCEL):c.143A>G (p.Asn48Ser)	not specified [RCV004129568]	uncertain significance	11	121047537	121047537	Human		name
156249238	CV2358841	single nucleotide variant	NM_001363644.2(TBCEL):c.292A>C (p.Asn98His)	not specified [RCV004212189]	uncertain significance	11	121053569	121053569	Human		name
401741048	CV2680536	single nucleotide variant	NM_001363644.2(TBCEL):c.122C>G (p.Ser41Cys)	not specified [RCV004291170]	uncertain significance	11	121045812	121045812	Human		name
401762374	CV2723417	single nucleotide variant	NM_001363644.2(TBCEL):c.274G>A (p.Val92Ile)	not specified [RCV004323493]	uncertain significance	11	121053551	121053551	Human		name
401898210	CV2790953	single nucleotide variant	NM_001363644.2(TBCEL):c.122C>T (p.Ser41Phe)	not specified [RCV004354584]	uncertain significance	11	121045812	121045812	Human		name
405791476	CV3335368	single nucleotide variant	NM_001363644.2(TBCEL):c.110C>A (p.Thr37Lys)	not specified [RCV004474130]	uncertain significance	11	121045800	121045800	Human		name
597761969	CV3619214	single nucleotide variant	NM_001363644.2(TBCEL):c.220G>A (p.Ala74Thr)	not specified [RCV004869531]	uncertain significance	11	121047614	121047614	Human		name
8633886	CV89102	single nucleotide variant	NM_001130047.1(TBCEL):c.1047C>T (p.His349=)	Malignant melanoma [RCV000069199]	not provided	11	121086868	121086868	Human		name
156185920	CV2195608	single nucleotide variant	NM_001363644.2(TBCEL):c.733A>G (p.Ile245Val)	not specified [RCV004082816]	uncertain significance	11	121058365	121058365	Human		name
156017323	CV2295571	single nucleotide variant	NM_001363644.2(TBCEL):c.503G>C (p.Cys168Ser)	not specified [RCV004160662]	uncertain significance	11	121055099	121055099	Human		name
156083753	CV2369056	single nucleotide variant	NM_001363644.2(TBCEL):c.435G>T (p.Met145Ile)	not specified [RCV004207987]	uncertain significance	11	121053712	121053712	Human		name
156247356	CV2396895	single nucleotide variant	NM_001363644.2(TBCEL):c.608A>T (p.Asp203Val)	not specified [RCV004234016]	uncertain significance	11	121055204	121055204	Human		name
405791472	CV3335369	single nucleotide variant	NM_001363644.2(TBCEL):c.382G>A (p.Val128Ile)	not specified [RCV004474131]	uncertain significance	11	121053659	121053659	Human		name
405791471	CV3335370	single nucleotide variant	NM_001363644.2(TBCEL):c.511A>G (p.Ile171Val)	not specified [RCV004474132]	uncertain significance	11	121055107	121055107	Human		name
405791468	CV3335371	single nucleotide variant	NM_001363644.2(TBCEL):c.578G>A (p.Arg193Gln)	not specified [RCV004474133]	uncertain significance	11	121055174	121055174	Human		name
405791465	CV3335372	single nucleotide variant	NM_001363644.2(TBCEL):c.595T>C (p.Phe199Leu)	not specified [RCV004474134]	uncertain significance	11	121055191	121055191	Human		name
405791462	CV3335373	single nucleotide variant	NM_001363644.2(TBCEL):c.689G>A (p.Arg230Gln)	not specified [RCV004474135]	uncertain significance	11	121055285	121055285	Human		name
405791459	CV3335374	single nucleotide variant	NM_001363644.2(TBCEL):c.757A>C (p.Lys253Gln)	not specified [RCV004474136]	uncertain significance	11	121058389	121058389	Human		name
597761952	CV3619211	single nucleotide variant	NM_001363644.2(TBCEL):c.379G>A (p.Gly127Arg)	not specified [RCV004869528]	uncertain significance	11	121053656	121053656	Human		name
597761963	CV3619213	single nucleotide variant	NM_001363644.2(TBCEL):c.670A>G (p.Arg224Gly)	not specified [RCV004869530]	uncertain significance	11	121055266	121055266	Human		name
597761977	CV3619216	single nucleotide variant	NM_001363644.2(TBCEL):c.941A>G (p.Glu314Gly)	not specified [RCV004869533]	uncertain significance	11	121060070	121060070	Human		name
598208523	CV3912967	single nucleotide variant	NM_001363644.2(TBCEL):c.616G>A (p.Val206Ile)	not specified [RCV005291501]	uncertain significance	11	121055212	121055212	Human		name
598208528	CV3912968	single nucleotide variant	NM_001363644.2(TBCEL):c.647A>C (p.Glu216Ala)	not specified [RCV005291502]	uncertain significance	11	121055243	121055243	Human		name
8626923	CV82067	single nucleotide variant	NM_001130047.1(TBCEL):c.940G>A (p.Glu314Lys)	Malignant melanoma [RCV000062146]	not provided	11	121060069	121060069	Human		name
155931340	CV2399825	single nucleotide variant	NM_001363644.2(TBCEL):c.1130A>G (p.Gln377Arg)	not specified [RCV004245626]	uncertain significance	11	121086951	121086951	Human		name
329372612	CV2451568	single nucleotide variant	NM_001363644.2(TBCEL):c.1135C>T (p.Pro379Ser)	not specified [RCV004274505]	uncertain significance	11	121086956	121086956	Human		name
8633885	CV89101	single nucleotide variant	NM_001130047.1(TBCEL):c.1046A>T (p.His349Leu)	Malignant melanoma [RCV000069198]	not provided	11	121086867	121086867	Human		name
8633887	CV89103	single nucleotide variant	NM_001130047.1(TBCEL):c.1078C>T (p.Arg360Cys)	Malignant melanoma [RCV000069200]	not provided	11	121086899	121086899	Human		name
8633888	CV89104	single nucleotide variant	NM_001130047.1(TBCEL):c.1223C>T (p.Ser408Phe)	Malignant melanoma [RCV000069201]	not provided	11	121087044	121087044	Human		name

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