Tanc2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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537 records found for search term Tanc2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
153301033	CV1688873	single nucleotide variant	NM_001394998.1(TANC2):c.*3034T>C	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002266601]	uncertain significance	17	63424989	63424989	Human	1	name
401906478	CV2808149	single nucleotide variant	NM_001394998.1(TANC2):c.770-3C>T	not provided [RCV003421400]	likely benign	17	63237811	63237811	Human		name
598177130	CV3891043	single nucleotide variant	NM_001394998.1(TANC2):c.139+2T>A	not provided [RCV005251896]	likely pathogenic	17	63074016	63074016	Human		name
34890311	CV916785	single nucleotide variant	NM_001394998.1(TANC2):c.769+1G>A	Autism spectrum disorder [RCV001261843]\|INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES [RCV001182001]	pathogenic\|likely pathogenic	17	63200958	63200958	Human	3	name
150528951	CV1288580	single nucleotide variant	NM_001394998.1(TANC2):c.3466-1G>A	not provided [RCV001727048]	likely pathogenic	17	63406153	63406153	Human		name
150545119	CV1315428	single nucleotide variant	NM_001394998.1(TANC2):c.3765+2T>C	Inborn genetic diseases [RCV002541214]\|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001783845]	likely pathogenic\|uncertain significance	17	63411688	63411688	Human	2	name
153349633	CV1693718	single nucleotide variant	NM_001394998.1(TANC2):c.3331+5C>T	not provided [RCV002276049]	likely benign	17	63398919	63398919	Human		name
156382807	CV2223646	single nucleotide variant	NM_001394998.1(TANC2):c.1575+4C>T	Inborn genetic diseases [RCV002722853]	uncertain significance	17	63319094	63319094	Human	1	name
156034033	CV2236452	single nucleotide variant	NM_001394998.1(TANC2):c.1442-4C>A	Inborn genetic diseases [RCV002758278]	uncertain significance	17	63318953	63318953	Human	1	name
155943136	CV2244919	single nucleotide variant	NM_001394998.1(TANC2):c.1034-3C>T	Inborn genetic diseases [RCV002752187]	uncertain significance	17	63267745	63267745	Human	1	name
243062855	CV2413946	single nucleotide variant	NM_001394998.1(TANC2):c.1441+3A>G	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140865]	uncertain significance	17	63314672	63314672	Human	1	name
329401008	CV2446017	single nucleotide variant	NM_001394998.1(TANC2):c.3238-1G>A	Inborn genetic diseases [RCV003198035]	pathogenic	17	63398820	63398820	Human	1	name
405277740	CV3196105	single nucleotide variant	NM_001394998.1(TANC2):c.1808-7A>G	TANC2-related disorder [RCV003904622]	likely benign	17	63351243	63351243	Human		name , trait , alternate_id
405853778	CV3393690	single nucleotide variant	NM_001394998.1(TANC2):c.1033+8T>G	not provided [RCV004546915]	likely benign	17	63238085	63238085	Human		name
405854403	CV3393905	single nucleotide variant	NM_001394998.1(TANC2):c.3929-7A>G	not provided [RCV004547131]	likely benign	17	63413536	63413536	Human		name
405867306	CV3394286	single nucleotide variant	NM_001394998.1(TANC2):c.2583-1G>A	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004566403]	pathogenic	17	63379717	63379717	Human	1	name
408394097	CV3521719	single nucleotide variant	NM_001394998.1(TANC2):c.2582+2T>G	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004764518]	likely pathogenic	17	63355392	63355392	Human	1	name
15196433	CV760590	single nucleotide variant	NM_001394998.1(TANC2):c.1034-6T>C	TANC2-related disorder [RCV003950743]\|not provided [RCV000911695]	benign\|likely benign	17	63267742	63267742	Human	1	name , trait , alternate_id
15140918	CV776513	single nucleotide variant	NM_001394998.1(TANC2):c.1807+8T>C	not provided [RCV000943802]	likely benign	17	63340340	63340340	Human		name
15161091	CV779959	single nucleotide variant	NM_001394998.1(TANC2):c.2582+8A>G	not provided [RCV000970026]	benign\|likely benign	17	63355398	63355398	Human		name
34890313	CV916786	single nucleotide variant	NM_001394998.1(TANC2):c.1441+1G>A	Autism spectrum disorder [RCV001261833]\|INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES [RCV001182002]\|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004559915]\|Neurodevelopmental disorder [RC ... (more) V001261832]	pathogenic\|likely pathogenic	17	63314670	63314670	Human	4	name
40815172	CV970258	single nucleotide variant	NM_001394998.1(TANC2):c.3765+1G>T	Intellectual disability [RCV001261846]	likely pathogenic	17	63411687	63411687	Human	2	name
40815165	CV970259	single nucleotide variant	NM_001394998.1(TANC2):c.4268+2T>G	Neurodevelopmental disorder [RCV001261837]	likely pathogenic	17	63418409	63418409	Human	1	name
407572719	CV3497208	deletion	NM_001394998.1(TANC2):c.3589+31del	not provided [RCV004699028]	uncertain significance	17	63406307	63406307	Human		name
401906477	CV2808142	single nucleotide variant	NM_001394998.1(TANC2):c.68-24166A>C	not provided [RCV003421399]	benign	17	63049777	63049777	Human		name
40815161	CV970257	microsatellite	NM_025185.3(TANC2):c.1589_1590delGA	Epilepsy [RCV001261834]	likely pathogenic	17	63351248	63351249	Human		name
329352069	CV2476697	single nucleotide variant	NM_001394998.1(TANC2):c.3052-2244T>G	not provided [RCV003222929]	likely benign	17	63393499	63393499	Human		name
401906480	CV2808152	microsatellite	NM_001394998.1(TANC2):c.1033+9TTG[8]	not provided [RCV003421402]	benign\|likely benign	17	63238085	63238086	Human		name
401914568	CV2808144	single nucleotide variant	NM_001394998.1(TANC2):c.90G>A (p.Pro30=)	not provided [RCV003428374]	likely benign	17	63073965	63073965	Human		name
401914570	CV2808145	single nucleotide variant	NM_001394998.1(TANC2):c.97A>C (p.Arg33=)	not provided [RCV003428375]	uncertain significance	17	63073972	63073972	Human		name
408368399	CV3500621	single nucleotide variant	NM_001394998.1(TANC2):c.1A>G (p.Met1Val)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004723713]	uncertain significance	17	63009560	63009560	Human	1	name
597632117	CV3552783	single nucleotide variant	NM_001394998.1(TANC2):c.7C>T (p.Arg3Trp)	not provided [RCV004823611]	uncertain significance	17	63009566	63009566	Human		name
597634161	CV3612289	single nucleotide variant	NM_001394998.1(TANC2):c.8G>A (p.Arg3Gln)	Inborn genetic diseases [RCV004969287]	uncertain significance	17	63009567	63009567	Human	1	name
8636275	CV91498	single nucleotide variant	NM_025185.3(TANC2):c.2100C>T (p.Ser700=)	Malignant melanoma [RCV000071596]	not provided	17	63355130	63355130	Human		name
151773620	CV1368193	deletion	NM_001394998.1(TANC2):c.91del (p.Asp31fs)	not provided [RCV001871363]	pathogenic	17	63073965	63073965	Human		name
401914571	CV2808146	single nucleotide variant	NM_001394998.1(TANC2):c.114C>T (p.Asp38=)	not provided [RCV003428376]	likely benign	17	63073989	63073989	Human		name
407425286	CV3409430	single nucleotide variant	NM_001394998.1(TANC2):c.189C>T (p.Val63=)	not provided [RCV004585361]	likely benign	17	63099224	63099224	Human		name
150532199	CV1308441	single nucleotide variant	NM_001394998.1(TANC2):c.94C>T (p.Arg32Ter)	not provided [RCV001757485]	pathogenic\|uncertain significance	17	63073969	63073969	Human		name
153348088	CV1695137	single nucleotide variant	NM_001394998.1(TANC2):c.98G>C (p.Arg33Thr)	not provided [RCV002279068]	uncertain significance	17	63073973	63073973	Human		name
155978908	CV2215115	single nucleotide variant	NM_001394998.1(TANC2):c.53A>G (p.Lys18Arg)	Inborn genetic diseases [RCV002688178]	likely benign	17	63009612	63009612	Human	1	name
329352468	CV2476695	single nucleotide variant	NM_001394998.1(TANC2):c.897G>A (p.Leu299=)	not provided [RCV003222927]	likely benign	17	63237941	63237941	Human		name
401725773	CV2735954	single nucleotide variant	NM_001394998.1(TANC2):c.564A>G (p.Glu188=)	not provided [RCV003312398]	likely benign	17	63194121	63194121	Human		name
401799067	CV2741643	single nucleotide variant	NM_001394998.1(TANC2):c.29T>G (p.Leu10Arg)	not provided [RCV003323051]	uncertain significance	17	63009588	63009588	Human		name
401828534	CV2743469	insertion	NM_001394998.1(TANC2):c.4167+2_4167+3insTT	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003326310]	uncertain significance	17	63415675	63415676	Human	1	name
401865569	CV2749274	single nucleotide variant	NM_001394998.1(TANC2):c.77G>A (p.Ser26Asn)	not specified [RCV003330472]	uncertain significance	17	63073952	63073952	Human		name
401902767	CV2799576	single nucleotide variant	NM_001394998.1(TANC2):c.94C>G (p.Arg32Gly)	TANC2-related disorder [RCV003419038]	uncertain significance	17	63073969	63073969	Human		name , trait , alternate_id
401914566	CV2808143	single nucleotide variant	NM_001394998.1(TANC2):c.85C>G (p.Pro29Ala)	not provided [RCV003428373]	likely benign	17	63073960	63073960	Human		name
401914574	CV2808148	single nucleotide variant	NM_001394998.1(TANC2):c.321T>C (p.Thr107=)	not provided [RCV003428377]	uncertain significance	17	63099356	63099356	Human		name
405263812	CV3185235	single nucleotide variant	NM_001394998.1(TANC2):c.639C>T (p.Ala213=)	not provided [RCV003885799]	likely benign	17	63200827	63200827	Human		name
405276973	CV3193543	single nucleotide variant	NM_001394998.1(TANC2):c.867G>A (p.Gln289=)	TANC2-related disorder [RCV003974711]	benign	17	63237911	63237911	Human		name , trait , alternate_id
405291772	CV3206125	single nucleotide variant	NM_001394998.1(TANC2):c.981A>G (p.Gln327=)	TANC2-related disorder [RCV003964196]	likely benign	17	63238025	63238025	Human		name , trait , alternate_id
407511645	CV3475183	single nucleotide variant	NM_001394998.1(TANC2):c.76A>G (p.Ser26Gly)	Inborn genetic diseases [RCV004673175]	uncertain significance	17	63073951	63073951	Human	1	name
408391833	CV3523455	single nucleotide variant	NM_001394998.1(TANC2):c.85C>A (p.Pro29Thr)	not provided [RCV004770829]	uncertain significance	17	63073960	63073960	Human		name
596947178	CV3548728	single nucleotide variant	NM_001394998.1(TANC2):c.56A>G (p.Asn19Ser)	not provided [RCV004811052]	uncertain significance	17	63009615	63009615	Human		name
598129415	CV3888712	single nucleotide variant	NM_001394998.1(TANC2):c.528C>T (p.Val176=)	not provided [RCV005244886]	uncertain significance	17	63194085	63194085	Human		name
15125051	CV715611	single nucleotide variant	NM_001394998.1(TANC2):c.804C>T (p.Arg268=)	TANC2-related disorder [RCV003926210]\|not provided [RCV000963516]	benign	17	63237848	63237848	Human	1	name , trait , alternate_id
15201560	CV727334	single nucleotide variant	NM_001394998.1(TANC2):c.594C>T (p.Ile198=)	not provided [RCV000891226]	benign\|likely benign	17	63200782	63200782	Human		name
151352898	CV1326261	single nucleotide variant	NM_001394998.1(TANC2):c.146T>C (p.Ile49Thr)	not provided [RCV001815833]	uncertain significance	17	63099181	63099181	Human		name
151352899	CV1326262	single nucleotide variant	NM_001394998.1(TANC2):c.184G>A (p.Ala62Thr)	not provided [RCV001815834]	likely benign\|uncertain significance	17	63099219	63099219	Human		name
152060579	CV1667068	single nucleotide variant	NM_001394998.1(TANC2):c.1086T>C (p.His362=)	not provided [RCV002211414]	likely benign	17	63267800	63267800	Human		name
153000310	CV1682970	single nucleotide variant	NM_001394998.1(TANC2):c.206G>C (p.Ser69Thr)	See cases [RCV002252980]	uncertain significance	17	63099241	63099241	Human		name
155645698	CV1709052	single nucleotide variant	NM_001394998.1(TANC2):c.178G>A (p.Asp60Asn)	not provided [RCV002291928]	uncertain significance	17	63099213	63099213	Human		name
155641596	CV1709860	single nucleotide variant	NM_001394998.1(TANC2):c.2538C>T (p.Ile846=)	not provided [RCV002292960]	likely benign	17	63355346	63355346	Human		name
156068908	CV2203735	single nucleotide variant	NM_001394998.1(TANC2):c.160G>A (p.Asp54Asn)	Inborn genetic diseases [RCV002660126]\|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003492806]\|not provided [RCV003420406]	uncertain significance	17	63099195	63099195	Human	2	name
156124674	CV2227373	single nucleotide variant	NM_001394998.1(TANC2):c.163T>C (p.Cys55Arg)	Inborn genetic diseases [RCV002708071]	uncertain significance	17	63099198	63099198	Human	1	name
156098587	CV2370793	single nucleotide variant	NM_001394998.1(TANC2):c.118C>T (p.Arg40Cys)	Inborn genetic diseases [RCV002661820]	likely benign	17	63073993	63073993	Human	1	name
243052886	CV2416234	single nucleotide variant	NM_001394998.1(TANC2):c.158G>A (p.Ser53Asn)	not provided [RCV003149295]	uncertain significance	17	63099193	63099193	Human		name
401775238	CV2692307	single nucleotide variant	NM_001394998.1(TANC2):c.143G>A (p.Gly48Asp)	Inborn genetic diseases [RCV003286026]	uncertain significance	17	63099178	63099178	Human	1	name
401739876	CV2738640	single nucleotide variant	NM_001394998.1(TANC2):c.180C>A (p.Asp60Glu)	not provided [RCV003318034]	uncertain significance	17	63099215	63099215	Human		name
401857790	CV2750531	single nucleotide variant	NM_001394998.1(TANC2):c.197T>C (p.Leu66Pro)	TANC2-related disorder [RCV003928992]\|not provided [RCV003334204]	likely benign	17	63099232	63099232	Human	1	name , trait , alternate_id
401869814	CV2792189	single nucleotide variant	NM_001394998.1(TANC2):c.202G>T (p.Val68Leu)	Inborn genetic diseases [RCV003381039]	uncertain significance	17	63099237	63099237	Human	1	name
401935838	CV2808147	single nucleotide variant	NM_001394998.1(TANC2):c.128G>A (p.Arg43His)	not provided [RCV003413300]	uncertain significance	17	63074003	63074003	Human		name
401914576	CV2808151	single nucleotide variant	NM_001394998.1(TANC2):c.1020A>C (p.Pro340=)	not provided [RCV003428378]	likely benign	17	63238064	63238064	Human		name
401914579	CV2808154	single nucleotide variant	NM_001394998.1(TANC2):c.1380C>G (p.Leu460=)	TANC2-related disorder [RCV003929089]\|not provided [RCV003428379]	likely benign	17	63314608	63314608	Human	1	name , trait , alternate_id
401906482	CV2808155	single nucleotide variant	NM_001394998.1(TANC2):c.1446G>A (p.Val482=)	not provided [RCV003421404]	likely benign	17	63318961	63318961	Human		name
401935839	CV2808158	single nucleotide variant	NM_001394998.1(TANC2):c.1902G>A (p.Ser634=)	not provided [RCV003413301]	likely benign	17	63351344	63351344	Human		name
401914582	CV2808159	single nucleotide variant	NM_001394998.1(TANC2):c.1920C>T (p.Ile640=)	TANC2-related disorder [RCV003929090]\|not provided [RCV003428381]	benign\|likely benign	17	63351362	63351362	Human	1	name , trait , alternate_id
401914586	CV2808160	single nucleotide variant	NM_001394998.1(TANC2):c.1953A>G (p.Val651=)	not provided [RCV003428382]	likely benign	17	63351395	63351395	Human		name
401906484	CV2808161	single nucleotide variant	NM_001394998.1(TANC2):c.2004G>A (p.Arg668=)	not provided [RCV003421406]	likely benign	17	63354812	63354812	Human		name
401914589	CV2808163	single nucleotide variant	NM_001394998.1(TANC2):c.2412G>C (p.Gly804=)	not provided [RCV003428384]	likely benign	17	63355220	63355220	Human		name
401906486	CV2808165	single nucleotide variant	NM_001394998.1(TANC2):c.2757A>C (p.Thr919=)	not provided [RCV003421408]	likely benign	17	63388700	63388700	Human		name
401912872	CV2830051	single nucleotide variant	NM_001394998.1(TANC2):c.101A>G (p.Gln34Arg)	not provided [RCV003441265]	uncertain significance	17	63073976	63073976	Human		name
405257052	CV3185719	single nucleotide variant	NM_001394998.1(TANC2):c.1989G>A (p.Leu663=)	TANC2-related disorder [RCV003956643]\|not provided [RCV003886283]	benign	17	63354797	63354797	Human	1	name , trait , alternate_id
405266364	CV3186623	single nucleotide variant	NM_001394998.1(TANC2):c.2424C>T (p.Gly808=)	not provided [RCV003886704]	likely benign	17	63355232	63355232	Human		name
405280848	CV3190581	single nucleotide variant	NM_001394998.1(TANC2):c.1344C>T (p.Phe448=)	TANC2-related disorder [RCV003907019]	likely benign	17	63314572	63314572	Human		name , trait , alternate_id
405257381	CV3194124	single nucleotide variant	NM_001394998.1(TANC2):c.206G>A (p.Ser69Asn)	TANC2-related disorder [RCV003892231]	likely benign	17	63099241	63099241	Human		name , trait , alternate_id
405282373	CV3212807	single nucleotide variant	NM_001394998.1(TANC2):c.1752C>T (p.Asp584=)	TANC2-related disorder [RCV003956953]	likely benign	17	63340277	63340277	Human		name , trait , alternate_id
405854830	CV3394946	indel	NM_001394998.1(TANC2):c.2201_2202delinsGA	not provided [RCV004555087]	uncertain significance	17	63424156	63424157	Human		name
407511628	CV3475173	single nucleotide variant	NM_001394998.1(TANC2):c.127C>T (p.Arg43Cys)	Inborn genetic diseases [RCV004673167]	likely benign	17	63074002	63074002	Human	1	name
596924816	CV3532436	single nucleotide variant	NM_001394998.1(TANC2):c.151A>G (p.Thr51Ala)	not provided [RCV004777547]	uncertain significance	17	63099186	63099186	Human		name
598129830	CV3887252	single nucleotide variant	NM_001394998.1(TANC2):c.2889A>G (p.Leu963=)	not provided [RCV005245312]	likely benign	17	63389382	63389382	Human		name
598129163	CV3888456	single nucleotide variant	NM_001394998.1(TANC2):c.1041C>T (p.Ser347=)	not provided [RCV005244630]	likely benign	17	63267755	63267755	Human		name
598182786	CV3920065	single nucleotide variant	NM_001394998.1(TANC2):c.108T>A (p.Ser36Arg)	Inborn genetic diseases [RCV005286999]	uncertain significance	17	63073983	63073983	Human	1	name
15196437	CV756014	single nucleotide variant	NM_001394998.1(TANC2):c.1572G>A (p.Ser524=)	TANC2-related disorder [RCV003902897]\|not provided [RCV000911696]	benign\|likely benign	17	63319087	63319087	Human	1	name , trait , alternate_id
150429464	CV1189239	single nucleotide variant	NM_001394998.1(TANC2):c.881G>T (p.Ser294Ile)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001563643]	uncertain significance	17	63237925	63237925	Human	1	name
150528953	CV1288581	single nucleotide variant	NM_001394998.1(TANC2):c.5220C>T (p.Ser1740=)	not provided [RCV001727049]	likely benign	17	63420950	63420950	Human		name
150520702	CV1289862	single nucleotide variant	NM_001394998.1(TANC2):c.3549C>T (p.Ser1183=)	not provided [RCV001730234]	benign\|likely benign	17	63406237	63406237	Human		name
150535172	CV1306960	single nucleotide variant	NM_001394998.1(TANC2):c.772A>G (p.Thr258Ala)	not provided [RCV001759014]	uncertain significance	17	63237816	63237816	Human		name
150528801	CV1307368	single nucleotide variant	NM_001394998.1(TANC2):c.864G>A (p.Trp288Ter)	not provided [RCV001755504]	pathogenic\|uncertain significance	17	63237908	63237908	Human		name
152060591	CV1667070	single nucleotide variant	NM_001394998.1(TANC2):c.5028T>C (p.Pro1676=)	TANC2-related disorder [RCV003926325]\|not provided [RCV002211416]	benign\|likely benign	17	63420758	63420758	Human	1	name , trait , alternate_id
153000110	CV1682869	single nucleotide variant	NM_001394998.1(TANC2):c.604A>G (p.Ile202Val)	See cases [RCV002252879]	uncertain significance	17	63200792	63200792	Human		name
155795789	CV1861503	single nucleotide variant	NM_001394998.1(TANC2):c.569A>G (p.Gln190Arg)	not provided [RCV002469785]	uncertain significance	17	63194126	63194126	Human		name
155962957	CV1931709	single nucleotide variant	NM_001394998.1(TANC2):c.929C>G (p.Thr310Ser)	not provided [RCV002616822]	uncertain significance	17	63237973	63237973	Human		name
155930516	CV2129115	single nucleotide variant	NM_001394998.1(TANC2):c.547G>A (p.Asp183Asn)	not provided [RCV002970607]	uncertain significance	17	63194104	63194104	Human		name
155960156	CV2204106	single nucleotide variant	NM_001394998.1(TANC2):c.994A>G (p.Ile332Val)	Inborn genetic diseases [RCV002686535]	uncertain significance	17	63238038	63238038	Human	1	name
156168486	CV2280037	single nucleotide variant	NM_001394998.1(TANC2):c.824G>A (p.Ser275Asn)	Inborn genetic diseases [RCV002872965]	uncertain significance	17	63237868	63237868	Human	1	name
156035405	CV2303449	single nucleotide variant	NM_001394998.1(TANC2):c.885G>T (p.Met295Ile)	Inborn genetic diseases [RCV002910251]	uncertain significance	17	63237929	63237929	Human	1	name
156151363	CV2318773	single nucleotide variant	NM_001394998.1(TANC2):c.538C>G (p.Gln180Glu)	Inborn genetic diseases [RCV002954669]	uncertain significance	17	63194095	63194095	Human	1	name
156087899	CV2337824	single nucleotide variant	NM_001394998.1(TANC2):c.893G>C (p.Cys298Ser)	Inborn genetic diseases [RCV002926560]	uncertain significance	17	63237937	63237937	Human	1	name
243062850	CV2413941	single nucleotide variant	NM_001394998.1(TANC2):c.6177G>A (p.Gln2059=)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140860]	uncertain significance	17	63421907	63421907	Human	1	name
243062853	CV2413944	single nucleotide variant	NM_001394998.1(TANC2):c.936T>G (p.Ser312Arg)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140863]	uncertain significance	17	63237980	63237980	Human	1	name
243062856	CV2413947	single nucleotide variant	NM_001394998.1(TANC2):c.601C>T (p.Arg201Trp)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140866]	uncertain significance	17	63200789	63200789	Human	1	name
243052426	CV2416110	single nucleotide variant	NM_001394998.1(TANC2):c.674C>T (p.Pro225Leu)	not provided [RCV003149170]	uncertain significance	17	63200862	63200862	Human		name
329352076	CV2476699	single nucleotide variant	NM_001394998.1(TANC2):c.4485C>T (p.Phe1495=)	not provided [RCV003222931]	likely benign	17	63420215	63420215	Human		name
401740250	CV2683303	single nucleotide variant	NM_001394998.1(TANC2):c.718G>T (p.Ala240Ser)	Inborn genetic diseases [RCV003251176]\|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV005399302]	likely benign	17	63200906	63200906	Human	2	name
401725776	CV2735955	single nucleotide variant	NM_001394998.1(TANC2):c.3753C>T (p.Gly1251=)	not provided [RCV003312399]	likely benign	17	63411674	63411674	Human		name
401740249	CV2738693	single nucleotide variant	NM_001394998.1(TANC2):c.976T>C (p.Ser326Pro)	not provided [RCV003318087]	uncertain significance	17	63238020	63238020	Human		name
401829752	CV2743794	single nucleotide variant	NM_001394998.1(TANC2):c.3798C>T (p.Ile1266=)	not provided [RCV003326970]	likely benign	17	63412030	63412030	Human		name
401934946	CV2800817	single nucleotide variant	NM_001394998.1(TANC2):c.954G>C (p.Glu318Asp)	TANC2-related disorder [RCV003412384]	uncertain significance	17	63237998	63237998	Human		name , trait , alternate_id
401906479	CV2808150	single nucleotide variant	NM_001394998.1(TANC2):c.802C>T (p.Arg268Cys)	Inborn genetic diseases [RCV004364549]\|not provided [RCV003421401]	uncertain significance	17	63237846	63237846	Human	1	name
401914595	CV2808167	single nucleotide variant	NM_001394998.1(TANC2):c.3420A>T (p.Arg1140=)	not provided [RCV003428386]	likely benign	17	63405210	63405210	Human		name
401914598	CV2808168	single nucleotide variant	NM_001394998.1(TANC2):c.3567C>T (p.Thr1189=)	not provided [RCV003428387]	likely benign	17	63406255	63406255	Human		name
401914604	CV2808172	single nucleotide variant	NM_001394998.1(TANC2):c.4428G>A (p.Pro1476=)	not provided [RCV003428390]	likely benign	17	63420158	63420158	Human		name
401914606	CV2808173	single nucleotide variant	NM_001394998.1(TANC2):c.4596G>A (p.Pro1532=)	not provided [RCV003428391]	likely benign	17	63420326	63420326	Human		name
401914609	CV2808174	single nucleotide variant	NM_001394998.1(TANC2):c.4797T>C (p.Arg1599=)	not provided [RCV003428392]	likely benign	17	63420527	63420527	Human		name
401906489	CV2808178	single nucleotide variant	NM_001394998.1(TANC2):c.5466C>T (p.Ser1822=)	not provided [RCV003421411]	likely benign	17	63421196	63421196	Human		name
401914614	CV2808179	single nucleotide variant	NM_001394998.1(TANC2):c.5544G>A (p.Pro1848=)	not provided [RCV003428394]	likely benign	17	63421274	63421274	Human		name
401906490	CV2808180	single nucleotide variant	NM_001394998.1(TANC2):c.5565G>A (p.Pro1855=)	not provided [RCV003421412]	likely benign	17	63421295	63421295	Human		name
401906491	CV2808182	single nucleotide variant	NM_001394998.1(TANC2):c.6036C>T (p.Asn2012=)	TANC2-related disorder [RCV003908903]\|not provided [RCV003421413]	likely benign	17	63421766	63421766	Human	1	name , trait , alternate_id
401914617	CV2808183	single nucleotide variant	NM_001394998.1(TANC2):c.6081C>A (p.Ser2027=)	not provided [RCV003428396]	likely benign	17	63421811	63421811	Human		name
401914621	CV2808184	single nucleotide variant	NM_001394998.1(TANC2):c.6168G>A (p.Arg2056=)	not provided [RCV003428397]	likely benign	17	63421898	63421898	Human		name
405070803	CV2853532	single nucleotide variant	NM_001394998.1(TANC2):c.587C>G (p.Ser196Ter)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003594709]	likely pathogenic	17	63200775	63200775	Human	1	name
405120322	CV2994002	single nucleotide variant	NM_001394998.1(TANC2):c.952G>A (p.Glu318Lys)	not provided [RCV003723817]	uncertain significance	17	63237996	63237996	Human		name
405264516	CV3185330	single nucleotide variant	NM_001394998.1(TANC2):c.4689A>G (p.Arg1563=)	not provided [RCV003885894]	likely benign	17	63420419	63420419	Human		name
405277165	CV3195351	single nucleotide variant	NM_001394998.1(TANC2):c.5892G>A (p.Thr1964=)	TANC2-related disorder [RCV003904141]\|not provided [RCV005242456]	likely benign	17	63421622	63421622	Human	1	name , trait , alternate_id
405292155	CV3199763	single nucleotide variant	NM_001394998.1(TANC2):c.5409C>T (p.Arg1803=)	TANC2-related disorder [RCV003964407]	benign	17	63421139	63421139	Human		name , trait , alternate_id
405285101	CV3202456	single nucleotide variant	NM_001394998.1(TANC2):c.5271G>A (p.Pro1757=)	TANC2-related disorder [RCV003909722]\|not provided [RCV005242465]	likely benign	17	63421001	63421001	Human	1	name , trait , alternate_id
405256214	CV3203574	single nucleotide variant	NM_001394998.1(TANC2):c.3762G>A (p.Glu1254=)	TANC2-related disorder [RCV003939815]	likely benign	17	63411683	63411683	Human		name , trait , alternate_id
405275149	CV3204668	single nucleotide variant	NM_001394998.1(TANC2):c.3804C>T (p.His1268=)	TANC2-related disorder [RCV003952066]	likely benign	17	63412036	63412036	Human		name , trait , alternate_id
405271151	CV3209327	single nucleotide variant	NM_001394998.1(TANC2):c.5943C>T (p.Ile1981=)	TANC2-related disorder [RCV003949669]	likely benign	17	63421673	63421673	Human		name , trait , alternate_id
405283268	CV3218549	single nucleotide variant	NM_001394998.1(TANC2):c.6204G>A (p.Pro2068=)	TANC2-related disorder [RCV003957334]	likely benign	17	63421934	63421934	Human		name , trait , alternate_id
405286224	CV3218713	single nucleotide variant	NM_001394998.1(TANC2):c.3354G>A (p.Arg1118=)	TANC2-related disorder [RCV003959435]\|not provided [RCV005426290]	likely benign	17	63405144	63405144	Human	1	name , trait , alternate_id
405261569	CV3221539	single nucleotide variant	NM_001394998.1(TANC2):c.5224T>C (p.Leu1742=)	TANC2-related disorder [RCV003967003]	likely benign	17	63420954	63420954	Human		name , trait , alternate_id
405708594	CV3225529	deletion	NM_001394998.1(TANC2):c.2044del (p.Gln682fs)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003990585]	likely pathogenic	17	63354851	63354851	Human	1	name
405694954	CV3226543	single nucleotide variant	NM_001394998.1(TANC2):c.4059C>T (p.Tyr1353=)	not provided [RCV003992936]	likely benign	17	63415566	63415566	Human		name
405696450	CV3226732	single nucleotide variant	NM_001394998.1(TANC2):c.4407G>A (p.Pro1469=)	not provided [RCV003993125]	likely benign	17	63420137	63420137	Human		name
405696926	CV3226787	single nucleotide variant	NM_001394998.1(TANC2):c.6051C>T (p.Asp2017=)	not provided [RCV003993181]	likely benign	17	63421781	63421781	Human		name
405763468	CV3327788	single nucleotide variant	NM_001394998.1(TANC2):c.3318C>T (p.Leu1106=)	Inborn genetic diseases [RCV004469032]	likely benign	17	63398901	63398901	Human	1	name
405763537	CV3327798	single nucleotide variant	NM_001394998.1(TANC2):c.745G>A (p.Glu249Lys)	Inborn genetic diseases [RCV004469042]	uncertain significance	17	63200933	63200933	Human	1	name
405763566	CV3327803	single nucleotide variant	NM_001394998.1(TANC2):c.832G>A (p.Glu278Lys)	Inborn genetic diseases [RCV004469047]	uncertain significance	17	63237876	63237876	Human	1	name
405854914	CV3395042	deletion	NM_001394998.1(TANC2):c.1808del (p.Glu603fs)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004555184]	likely pathogenic	17	63351250	63351250	Human	1	name
405855048	CV3395574	single nucleotide variant	NM_001394998.1(TANC2):c.803G>A (p.Arg268His)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004555822]	uncertain significance	17	63237847	63237847	Human	1	name
407429435	CV3413846	single nucleotide variant	NM_001394998.1(TANC2):c.713A>G (p.Tyr238Cys)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004595255]	uncertain significance	17	63200901	63200901	Human	1	name
407511640	CV3475181	deletion	NM_001394998.1(TANC2):c.2949del (p.Asn984fs)	Inborn genetic diseases [RCV004673173]	pathogenic	17	63389441	63389441	Human	1	name
407530501	CV3475186	single nucleotide variant	NM_001394998.1(TANC2):c.524A>C (p.Lys175Thr)	Inborn genetic diseases [RCV004681942]	uncertain significance	17	63194081	63194081	Human	1	name
408388631	CV3520839	single nucleotide variant	NM_001394998.1(TANC2):c.706T>C (p.Cys236Arg)	not provided [RCV004761672]	uncertain significance	17	63200894	63200894	Human		name
408394001	CV3521671	single nucleotide variant	NM_001394998.1(TANC2):c.599A>C (p.Gln200Pro)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004764469]	uncertain significance	17	63200787	63200787	Human	1	name
408382616	CV3526751	single nucleotide variant	NM_001394998.1(TANC2):c.934A>G (p.Ser312Gly)	not provided [RCV004772064]	uncertain significance	17	63237978	63237978	Human		name
596942779	CV3542674	single nucleotide variant	NM_001394998.1(TANC2):c.506G>T (p.Gly169Val)	not provided [RCV004798258]	uncertain significance	17	63194063	63194063	Human		name
596946510	CV3548357	single nucleotide variant	NM_001394998.1(TANC2):c.4008C>T (p.Asp1336=)	not provided [RCV004810183]	uncertain significance	17	63413622	63413622	Human		name
598122272	CV3884304	single nucleotide variant	NM_001394998.1(TANC2):c.683G>A (p.Ser228Asn)	not specified [RCV005236994]	uncertain significance	17	63200871	63200871	Human		name
598129521	CV3886936	single nucleotide variant	NM_001394998.1(TANC2):c.4773G>A (p.Pro1591=)	not provided [RCV005244996]	likely benign	17	63420503	63420503	Human		name
598129522	CV3886937	single nucleotide variant	NM_001394998.1(TANC2):c.5130C>T (p.Thr1710=)	not provided [RCV005244997]	likely benign	17	63420860	63420860	Human		name
598129523	CV3886938	single nucleotide variant	NM_001394998.1(TANC2):c.5715C>T (p.Asp1905=)	not provided [RCV005244998]	likely benign	17	63421445	63421445	Human		name
598129899	CV3887323	single nucleotide variant	NM_001394998.1(TANC2):c.3198A>G (p.Gln1066=)	not provided [RCV005245383]	likely benign	17	63395889	63395889	Human		name
598127683	CV3888284	single nucleotide variant	NM_001394998.1(TANC2):c.436G>A (p.Asp146Asn)	not provided [RCV005242970]	uncertain significance	17	63193993	63193993	Human		name
598174993	CV3890949	single nucleotide variant	NM_001394998.1(TANC2):c.668C>T (p.Thr223Ile)	not provided [RCV005251802]	uncertain significance	17	63200856	63200856	Human		name
598182758	CV3920058	single nucleotide variant	NM_001394998.1(TANC2):c.692C>A (p.Ala231Glu)	Inborn genetic diseases [RCV005286993]	likely benign	17	63200880	63200880	Human	1	name
598264864	CV3920060	single nucleotide variant	NM_001394998.1(TANC2):c.899A>G (p.Tyr300Cys)	Inborn genetic diseases [RCV005280855]	uncertain significance	17	63237943	63237943	Human	1	name
15185649	CV704274	single nucleotide variant	NM_001394998.1(TANC2):c.3978C>T (p.Ile1326=)	not provided [RCV000953045]	benign\|likely benign	17	63413592	63413592	Human		name
15127730	CV715610	single nucleotide variant	NM_001394998.1(TANC2):c.680T>G (p.Ile227Ser)	not provided [RCV000963957]	benign	17	63200868	63200868	Human		name
150338384	CV1174203	single nucleotide variant	NM_001394998.1(TANC2):c.1894A>G (p.Ile632Val)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001542290]	uncertain significance	17	63351336	63351336	Human	1	name
150438253	CV1286816	single nucleotide variant	NM_001394998.1(TANC2):c.2856C>A (p.Tyr952Ter)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001724762]	pathogenic\|likely pathogenic	17	63389349	63389349	Human	1	name
150528947	CV1288578	single nucleotide variant	NM_001394998.1(TANC2):c.1580T>C (p.Val527Ala)	not provided [RCV001727046]	likely benign	17	63340105	63340105	Human		name
150528949	CV1288579	single nucleotide variant	NM_001394998.1(TANC2):c.1592A>G (p.Tyr531Cys)	Inborn genetic diseases [RCV002539765]\|not provided [RCV001727047]	uncertain significance	17	63340117	63340117	Human	1	name
150532190	CV1308436	single nucleotide variant	NM_001394998.1(TANC2):c.1613A>G (p.Tyr538Cys)	not provided [RCV001757480]	uncertain significance	17	63340138	63340138	Human		name
150532212	CV1308450	single nucleotide variant	NM_001394998.1(TANC2):c.2735G>T (p.Gly912Val)	not provided [RCV001757494]	uncertain significance	17	63388678	63388678	Human		name
150532254	CV1308477	single nucleotide variant	NM_001394998.1(TANC2):c.2377A>C (p.Thr793Pro)	not provided [RCV001757521]	uncertain significance	17	63355185	63355185	Human		name
150533053	CV1310991	single nucleotide variant	NM_001394998.1(TANC2):c.1171C>T (p.Pro391Ser)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001825036]\|not provided [RCV001776726]	uncertain significance\|not provided	17	63314399	63314399	Human	1	name
150545642	CV1315816	single nucleotide variant	NM_001394998.1(TANC2):c.2951A>G (p.Asn984Ser)	Inborn genetic diseases [RCV004040813]\|See cases [RCV001784147]	uncertain significance	17	63389444	63389444	Human	1	name
151353245	CV1326263	single nucleotide variant	NM_001394998.1(TANC2):c.1998C>G (p.Phe666Leu)	TANC2-related disorder [RCV003976211]\|not provided [RCV001816210]	uncertain significance	17	63354806	63354806	Human	1	name , trait , alternate_id
151663585	CV1334051	single nucleotide variant	NM_001394998.1(TANC2):c.1844T>C (p.Ile615Thr)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001839225]\|TANC2-related disorder [RCV003407832]	uncertain significance	17	63351286	63351286	Human	1	name , trait , alternate_id
151717007	CV1441793	single nucleotide variant	NM_001394998.1(TANC2):c.1004A>G (p.Tyr335Cys)	not provided [RCV002025176]	uncertain significance	17	63238048	63238048	Human		name
151809830	CV1444916	deletion	NM_001394998.1(TANC2):c.4632del (p.Gly1545fs)	not provided [RCV001939530]	pathogenic	17	63420361	63420361	Human		name
153000207	CV1682915	single nucleotide variant	NM_001394998.1(TANC2):c.1834A>G (p.Ile612Val)	Inborn genetic diseases [RCV004673652]\|See cases [RCV002252925]\|not provided [RCV003156372]	uncertain significance	17	63351276	63351276	Human	1	name
153346543	CV1691824	single nucleotide variant	NM_001394998.1(TANC2):c.2767T>C (p.Ser923Pro)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002273307]	likely benign\|uncertain significance	17	63388710	63388710	Human	1	name
153348540	CV1692577	single nucleotide variant	NM_001394998.1(TANC2):c.2890T>C (p.Cys964Arg)	Neurodevelopmental delay [RCV002274431]	uncertain significance	17	63389383	63389383	Human	1	name
153348862	CV1692907	single nucleotide variant	NM_001394998.1(TANC2):c.2588G>C (p.Gly863Ala)	not provided [RCV002274763]	uncertain significance	17	63379723	63379723	Human		name
155642362	CV1707351	single nucleotide variant	NM_001394998.1(TANC2):c.1553C>T (p.Ala518Val)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002288281]	uncertain significance	17	63319068	63319068	Human	1	name
155802821	CV1857794	single nucleotide variant	NM_001394998.1(TANC2):c.2330G>A (p.Arg777Gln)	not provided [RCV002461644]	uncertain significance	17	63355138	63355138	Human		name
155797481	CV1860378	single nucleotide variant	NM_001394998.1(TANC2):c.2389A>G (p.Ile797Val)	not provided [RCV002467020]	uncertain significance	17	63355197	63355197	Human		name
156189693	CV1867299	duplication	NM_001394998.1(TANC2):c.4868dup (p.Gln1625fs)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002509002]	not provided	17	63420596	63420597	Human		name
156047446	CV1867550	single nucleotide variant	NM_001394998.1(TANC2):c.2043C>A (p.Asp681Glu)	not provided [RCV002510022]	uncertain significance	17	63354851	63354851	Human		name
155943665	CV1935480	single nucleotide variant	NM_001394998.1(TANC2):c.1222A>C (p.Ser408Arg)	not provided [RCV002511226]	uncertain significance	17	63314450	63314450	Human		name
155953787	CV1936218	deletion	NM_001394998.1(TANC2):c.3075del (p.Gln1026fs)	not provided [RCV002511877]	pathogenic	17	63395764	63395764	Human		name
156445038	CV1949095	single nucleotide variant	NM_001394998.1(TANC2):c.1125C>G (p.Ser375Arg)	not provided [RCV003115972]	uncertain significance	17	63267839	63267839	Human		name
156268259	CV2026743	single nucleotide variant	NM_001394998.1(TANC2):c.1763C>T (p.Ser588Phe)	not provided [RCV002746549]	uncertain significance	17	63340288	63340288	Human		name
156256364	CV2056835	single nucleotide variant	NM_001394998.1(TANC2):c.1039A>G (p.Ser347Gly)	not provided [RCV002791865]	uncertain significance	17	63267753	63267753	Human		name
156399844	CV2202260	single nucleotide variant	NM_001394998.1(TANC2):c.1604A>T (p.Asp535Val)	Inborn genetic diseases [RCV002656229]	uncertain significance	17	63340129	63340129	Human	1	name
156175773	CV2205272	single nucleotide variant	NM_001394998.1(TANC2):c.2713G>A (p.Val905Ile)	Inborn genetic diseases [RCV002665000]	uncertain significance	17	63388656	63388656	Human	1	name
156035017	CV2208030	single nucleotide variant	NM_001394998.1(TANC2):c.1139G>A (p.Arg380His)	Inborn genetic diseases [RCV002691857]	uncertain significance	17	63267853	63267853	Human	1	name
156097846	CV2253220	single nucleotide variant	NM_001394998.1(TANC2):c.2618G>A (p.Arg873His)	Inborn genetic diseases [RCV002798929]	uncertain significance	17	63379753	63379753	Human	1	name
156367070	CV2269817	single nucleotide variant	NM_001394998.1(TANC2):c.2993A>G (p.Tyr998Cys)	Inborn genetic diseases [RCV002813704]	uncertain significance	17	63389486	63389486	Human	1	name
156019797	CV2272700	single nucleotide variant	NM_001394998.1(TANC2):c.1804A>G (p.Lys602Glu)	Inborn genetic diseases [RCV002844508]	uncertain significance	17	63340329	63340329	Human	1	name
156198685	CV2293712	single nucleotide variant	NM_001394998.1(TANC2):c.1009A>C (p.Met337Leu)	Inborn genetic diseases [RCV002874688]	uncertain significance	17	63238053	63238053	Human	1	name
156348813	CV2309091	single nucleotide variant	NM_001394998.1(TANC2):c.1435C>T (p.Pro479Ser)	Inborn genetic diseases [RCV002939545]	uncertain significance	17	63314663	63314663	Human	1	name
156290601	CV2309851	single nucleotide variant	NM_001394998.1(TANC2):c.1481C>T (p.Pro494Leu)	Inborn genetic diseases [RCV002897149]	uncertain significance	17	63318996	63318996	Human	1	name
156347309	CV2315231	single nucleotide variant	NM_001394998.1(TANC2):c.1882T>C (p.Tyr628His)	Inborn genetic diseases [RCV002939342]	uncertain significance	17	63351324	63351324	Human	1	name
156057089	CV2326715	single nucleotide variant	NM_001394998.1(TANC2):c.2755A>G (p.Thr919Ala)	Inborn genetic diseases [RCV002950446]	likely benign	17	63388698	63388698	Human	1	name
156277725	CV2328328	single nucleotide variant	NM_001394998.1(TANC2):c.2789G>A (p.Arg930Gln)	Inborn genetic diseases [RCV002921514]\|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004820937]\|not provided [RCV003420473]	likely benign\|uncertain significance	17	63388732	63388732	Human	2	name
155992066	CV2379270	single nucleotide variant	NM_001394998.1(TANC2):c.1901C>T (p.Ser634Leu)	Inborn genetic diseases [RCV002689300]	uncertain significance	17	63351343	63351343	Human	1	name
156434490	CV2402931	single nucleotide variant	NM_001394998.1(TANC2):c.2866G>A (p.Val956Ile)	not provided [RCV003126369]	uncertain significance	17	63389359	63389359	Human		name
243062565	CV2405039	single nucleotide variant	NM_001394998.1(TANC2):c.2698A>C (p.Ser900Arg)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003225820]	uncertain significance	17	63388641	63388641	Human	1	name
243062857	CV2413948	single nucleotide variant	NM_001394998.1(TANC2):c.1954A>G (p.Thr652Ala)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140867]	uncertain significance	17	63351396	63351396	Human	1	name
243062859	CV2413950	single nucleotide variant	NM_001394998.1(TANC2):c.2858G>A (p.Arg953Gln)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140869]	uncertain significance	17	63389351	63389351	Human	1	name
243062860	CV2413951	single nucleotide variant	NM_001394998.1(TANC2):c.1111A>G (p.Met371Val)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140870]	uncertain significance	17	63267825	63267825	Human	1	name
243053236	CV2416287	single nucleotide variant	NM_001394998.1(TANC2):c.2096A>G (p.Gln699Arg)	not provided [RCV003149348]	uncertain significance	17	63354904	63354904	Human		name
329363006	CV2449638	single nucleotide variant	NM_001394998.1(TANC2):c.2605T>G (p.Phe869Val)	Inborn genetic diseases [RCV003181162]	uncertain significance	17	63379740	63379740	Human	1	name
329386230	CV2454879	single nucleotide variant	NM_001394998.1(TANC2):c.2962T>G (p.Ser988Ala)	Inborn genetic diseases [RCV003214691]	uncertain significance	17	63389455	63389455	Human	1	name
329352574	CV2476696	single nucleotide variant	NM_001394998.1(TANC2):c.2405A>G (p.Asn802Ser)	Inborn genetic diseases [RCV004285585]\|not provided [RCV003222928]	likely benign\|uncertain significance	17	63355213	63355213	Human	1	name
329847466	CV2524302	single nucleotide variant	NM_001394998.1(TANC2):c.2512C>T (p.His838Tyr)	not provided [RCV003227194]	uncertain significance	17	63355320	63355320	Human		name
329953386	CV2668362	single nucleotide variant	NM_001394998.1(TANC2):c.2360C>T (p.Ala787Val)	not provided [RCV003230015]	uncertain significance	17	63355168	63355168	Human		name
329954409	CV2669093	single nucleotide variant	NM_001394998.1(TANC2):c.1687C>T (p.Arg563Trp)	See cases [RCV003232926]	uncertain significance	17	63340212	63340212	Human		name
329954193	CV2669456	single nucleotide variant	NM_001394998.1(TANC2):c.1552G>T (p.Ala518Ser)	not provided [RCV003231964]	uncertain significance	17	63319067	63319067	Human		name
329952337	CV2671686	single nucleotide variant	NM_001394998.1(TANC2):c.1268A>T (p.His423Leu)	not provided [RCV003237082]	uncertain significance	17	63314496	63314496	Human		name
401739434	CV2738566	single nucleotide variant	NM_001394998.1(TANC2):c.2107T>A (p.Ser703Thr)	TANC2-related disorder [RCV003906694]\|not specified [RCV003317958]	uncertain significance	17	63354915	63354915	Human	1	name , trait , alternate_id
401797307	CV2740928	single nucleotide variant	NM_001394998.1(TANC2):c.1372G>A (p.Val458Met)	not provided [RCV003322092]	uncertain significance	17	63314600	63314600	Human		name
401797681	CV2741038	single nucleotide variant	NM_001394998.1(TANC2):c.1534C>T (p.Arg512Cys)	not provided [RCV003322202]	uncertain significance	17	63319049	63319049	Human		name
401830423	CV2748125	single nucleotide variant	NM_001394998.1(TANC2):c.2503A>G (p.Met835Val)	not provided [RCV003329732]	uncertain significance	17	63355311	63355311	Human		name
401881806	CV2784832	single nucleotide variant	NM_001394998.1(TANC2):c.1079A>G (p.Gln360Arg)	Inborn genetic diseases [RCV003365068]\|not provided [RCV003883986]	likely benign\|uncertain significance	17	63267793	63267793	Human	1	name
401913679	CV2799580	single nucleotide variant	NM_001394998.1(TANC2):c.1942A>G (p.Lys648Glu)	TANC2-related disorder [RCV003427930]	uncertain significance	17	63351384	63351384	Human		name , trait , alternate_id
401934686	CV2802717	single nucleotide variant	NM_001394998.1(TANC2):c.2382T>A (p.Asp794Glu)	TANC2-related disorder [RCV003412112]	uncertain significance	17	63355190	63355190	Human		name , trait , alternate_id
401926331	CV2803563	single nucleotide variant	NM_001394998.1(TANC2):c.2621A>G (p.Gln874Arg)	TANC2-related disorder [RCV003405916]	uncertain significance	17	63379756	63379756	Human		name , trait , alternate_id
401906481	CV2808153	single nucleotide variant	NM_001394998.1(TANC2):c.1229C>T (p.Thr410Ile)	not provided [RCV003421403]	uncertain significance	17	63314457	63314457	Human		name
401906483	CV2808156	single nucleotide variant	NM_001394998.1(TANC2):c.1498A>G (p.Ile500Val)	Inborn genetic diseases [RCV004963653]\|not provided [RCV003421405]	likely benign\|uncertain significance	17	63319013	63319013	Human	1	name
401914580	CV2808157	single nucleotide variant	NM_001394998.1(TANC2):c.1556T>C (p.Met519Thr)	not provided [RCV003428380]	uncertain significance	17	63319071	63319071	Human		name
401914587	CV2808162	single nucleotide variant	NM_001394998.1(TANC2):c.2306T>C (p.Phe769Ser)	not provided [RCV003428383]	uncertain significance	17	63355114	63355114	Human		name
401906485	CV2808164	single nucleotide variant	NM_001394998.1(TANC2):c.2425A>C (p.Thr809Pro)	not provided [RCV003421407]	uncertain significance	17	63355233	63355233	Human		name
405869399	CV2831979	single nucleotide variant	NM_001394998.1(TANC2):c.1411G>T (p.Ala471Ser)	not provided [RCV004572992]	uncertain significance	17	63314639	63314639	Human		name
401943851	CV2840227	single nucleotide variant	NM_001394998.1(TANC2):c.1540C>T (p.Arg514Trp)	Inborn genetic diseases [RCV004364729]\|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004784157]\|not provided [RCV003456986]	likely benign\|uncertain significance	17	63319055	63319055	Human	2	name
401943855	CV2840228	single nucleotide variant	NM_001394998.1(TANC2):c.2369A>T (p.His790Leu)	not provided [RCV003456987]	uncertain significance	17	63355177	63355177	Human		name
405260965	CV3185994	single nucleotide variant	NM_001394998.1(TANC2):c.2747C>T (p.Ser916Phe)	not provided [RCV003885070]	likely benign	17	63388690	63388690	Human		name
405259844	CV3186444	single nucleotide variant	NM_001394998.1(TANC2):c.2183A>G (p.Tyr728Cys)	Inborn genetic diseases [RCV004369706]\|not provided [RCV003884203]	uncertain significance	17	63354991	63354991	Human	1	name
405258675	CV3194104	single nucleotide variant	NM_001394998.1(TANC2):c.1280C>T (p.Ala427Val)	Inborn genetic diseases [RCV004369727]\|TANC2-related disorder [RCV003893686]	uncertain significance	17	63314508	63314508	Human	2	name , trait , alternate_id
405704815	CV3225148	single nucleotide variant	NM_001394998.1(TANC2):c.1042T>A (p.Ser348Thr)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003990104]	uncertain significance	17	63267756	63267756	Human	1	name
405699821	CV3227244	single nucleotide variant	NM_001394998.1(TANC2):c.2798A>G (p.Tyr933Cys)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003993596]	uncertain significance	17	63388741	63388741	Human	1	name
405763463	CV3327787	single nucleotide variant	NM_001394998.1(TANC2):c.1389T>A (p.His463Gln)	Inborn genetic diseases [RCV004469031]	uncertain significance	17	63314617	63314617	Human	1	name
407426710	CV3411510	single nucleotide variant	NM_001394998.1(TANC2):c.1822G>T (p.Asp608Tyr)	not provided [RCV004590688]	uncertain significance	17	63351264	63351264	Human		name
407426960	CV3411760	single nucleotide variant	NM_001394998.1(TANC2):c.1090C>G (p.Pro364Ala)	not provided [RCV004590938]	uncertain significance	17	63267804	63267804	Human		name
407429248	CV3413659	duplication	NM_001394998.1(TANC2):c.4006dup (p.Asp1336fs)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004595068]	pathogenic	17	63413615	63413616	Human	1	name
407511624	CV3475171	single nucleotide variant	NM_001394998.1(TANC2):c.1702C>T (p.Arg568Trp)	Inborn genetic diseases [RCV004673165]	uncertain significance	17	63340227	63340227	Human	1	name
407530497	CV3475174	single nucleotide variant	NM_001394998.1(TANC2):c.1360A>G (p.Ile454Val)	Inborn genetic diseases [RCV004681939]	uncertain significance	17	63314588	63314588	Human	1	name
407511632	CV3475176	single nucleotide variant	NM_001394998.1(TANC2):c.2605T>C (p.Phe869Leu)	Inborn genetic diseases [RCV004673169]	uncertain significance	17	63379740	63379740	Human	1	name
407511636	CV3475178	single nucleotide variant	NM_001394998.1(TANC2):c.1633T>C (p.Phe545Leu)	Inborn genetic diseases [RCV004673171]	uncertain significance	17	63340158	63340158	Human	1	name
407511642	CV3475182	single nucleotide variant	NM_001394998.1(TANC2):c.2953G>A (p.Val985Met)	Inborn genetic diseases [RCV004673174]	uncertain significance	17	63389446	63389446	Human	1	name
408368428	CV3500639	single nucleotide variant	NM_001394998.1(TANC2):c.2015A>T (p.Asp672Val)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004723719]	uncertain significance	17	63354823	63354823	Human	1	name
408374900	CV3508075	single nucleotide variant	NM_001394998.1(TANC2):c.1846G>A (p.Asp616Asn)	TANC2-related disorder [RCV004747551]	uncertain significance	17	63351288	63351288	Human		name , trait , alternate_id
408394528	CV3518216	single nucleotide variant	NM_001394998.1(TANC2):c.1938G>A (p.Trp646Ter)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004759539]	pathogenic	17	63351380	63351380	Human	1	name
408390420	CV3519300	single nucleotide variant	NM_001394998.1(TANC2):c.2230G>C (p.Val744Leu)	not provided [RCV004762609]	uncertain significance	17	63355038	63355038	Human		name
408388496	CV3520754	single nucleotide variant	NM_001394998.1(TANC2):c.1426C>T (p.His476Tyr)	not provided [RCV004761587]	uncertain significance	17	63314654	63314654	Human		name
408390360	CV3527522	single nucleotide variant	NM_001394998.1(TANC2):c.1423C>T (p.Pro475Ser)	not provided [RCV004774789]	uncertain significance	17	63314651	63314651	Human		name
408391163	CV3527912	single nucleotide variant	NM_001394998.1(TANC2):c.2711G>A (p.Gly904Asp)	not provided [RCV004775183]	uncertain significance	17	63388654	63388654	Human		name
408393393	CV3528456	single nucleotide variant	NM_001394998.1(TANC2):c.1592A>C (p.Tyr531Ser)	not provided [RCV004776224]	uncertain significance	17	63340117	63340117	Human		name
596929981	CV3531279	single nucleotide variant	NM_001394998.1(TANC2):c.2368C>T (p.His790Tyr)	not provided [RCV004779853]	uncertain significance	17	63355176	63355176	Human		name
596924499	CV3532285	single nucleotide variant	NM_001394998.1(TANC2):c.2564A>G (p.Lys855Arg)	not provided [RCV004777396]	uncertain significance	17	63355372	63355372	Human		name
596921446	CV3535092	single nucleotide variant	NM_001394998.1(TANC2):c.2768C>G (p.Ser923Cys)	not provided [RCV004784651]	uncertain significance	17	63388711	63388711	Human		name
596922424	CV3537171	single nucleotide variant	NM_001394998.1(TANC2):c.1994C>G (p.Pro665Arg)	not provided [RCV004786167]	uncertain significance	17	63354802	63354802	Human		name
596946487	CV3548309	single nucleotide variant	NM_001394998.1(TANC2):c.1692G>C (p.Glu564Asp)	not provided [RCV004810134]	likely benign	17	63340217	63340217	Human		name
597634119	CV3612278	single nucleotide variant	NM_001394998.1(TANC2):c.1586A>G (p.Tyr529Cys)	Inborn genetic diseases [RCV004969276]	uncertain significance	17	63340111	63340111	Human	1	name
597634142	CV3612284	single nucleotide variant	NM_001394998.1(TANC2):c.2780C>T (p.Ala927Val)	Inborn genetic diseases [RCV004969282]	uncertain significance	17	63388723	63388723	Human	1	name
597634151	CV3612286	single nucleotide variant	NM_001394998.1(TANC2):c.1810A>G (p.Arg604Gly)	Inborn genetic diseases [RCV004969284]	uncertain significance	17	63351252	63351252	Human	1	name
597633566	CV3705386	single nucleotide variant	NM_001394998.1(TANC2):c.1306G>C (p.Val436Leu)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV005023843]	uncertain significance	17	63314534	63314534	Human	1	name
597718666	CV3733439	single nucleotide variant	NM_001394998.1(TANC2):c.1405C>A (p.Gln469Lys)	not provided [RCV005052629]	uncertain significance	17	63314633	63314633	Human		name
597720317	CV3733579	single nucleotide variant	NM_001394998.1(TANC2):c.2509G>A (p.Val837Ile)	not provided [RCV005052770]	uncertain significance	17	63355317	63355317	Human		name
597968899	CV3791142	single nucleotide variant	NM_001394998.1(TANC2):c.2897A>G (p.Gln966Arg)	not provided [RCV005141174]	uncertain significance	17	63389390	63389390	Human		name
598127965	CV3888395	single nucleotide variant	NM_001394998.1(TANC2):c.2301G>T (p.Met767Ile)	not provided [RCV005243081]	uncertain significance	17	63355109	63355109	Human		name
598123337	CV3890298	single nucleotide variant	NM_001394998.1(TANC2):c.2783C>T (p.Ser928Phe)	not provided [RCV005250817]	uncertain significance	17	63388726	63388726	Human		name
598182763	CV3920059	single nucleotide variant	NM_001394998.1(TANC2):c.1769G>A (p.Arg590Gln)	Inborn genetic diseases [RCV005286994]	uncertain significance	17	63340294	63340294	Human	1	name
598182768	CV3920061	single nucleotide variant	NM_001394998.1(TANC2):c.1163G>A (p.Arg388His)	Inborn genetic diseases [RCV005286995]	uncertain significance	17	63314391	63314391	Human	1	name
598182771	CV3920062	single nucleotide variant	NM_001394998.1(TANC2):c.2857C>T (p.Arg953Trp)	Inborn genetic diseases [RCV005286996]	uncertain significance	17	63389350	63389350	Human	1	name
598194097	CV3920066	single nucleotide variant	NM_001394998.1(TANC2):c.1412C>T (p.Ala471Val)	Inborn genetic diseases [RCV005289022]	uncertain significance	17	63314640	63314640	Human	1	name
598194113	CV3920070	single nucleotide variant	NM_001394998.1(TANC2):c.1723A>G (p.Met575Val)	Inborn genetic diseases [RCV005289025]	uncertain significance	17	63340248	63340248	Human	1	name
598264870	CV3920072	single nucleotide variant	NM_001394998.1(TANC2):c.2906T>G (p.Leu969Arg)	Inborn genetic diseases [RCV005280857]	uncertain significance	17	63389399	63389399	Human	1	name
598178741	CV4008484	single nucleotide variant	NM_001394998.1(TANC2):c.1670C>G (p.Pro557Arg)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV005394003]	uncertain significance	17	63340195	63340195	Human	1	name
617149249	CV4017290	single nucleotide variant	NM_001394998.1(TANC2):c.1045G>C (p.Ala349Pro)	not provided [RCV005416947]	uncertain significance	17	63267759	63267759	Human		name
617149325	CV4017485	single nucleotide variant	NM_001394998.1(TANC2):c.2582G>A (p.Arg861Lys)	not provided [RCV005417143]	uncertain significance	17	63355390	63355390	Human		name
15192957	CV740929	single nucleotide variant	NM_001394998.1(TANC2):c.2920A>G (p.Met974Val)	Inborn genetic diseases [RCV004669169]\|TANC2-related disorder [RCV003950727]\|not provided [RCV000910698]	likely benign	17	63389413	63389413	Human	2	name , trait , alternate_id
34890318	CV916788	deletion	NM_001394998.1(TANC2):c.4701del (p.Gln1567fs)	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES [RCV001182005]\|Intellectual disability [RCV001261841]	pathogenic\|likely pathogenic	17	63420431	63420431	Human	4	name
34890319	CV916789	deletion	NM_001394998.1(TANC2):c.4657del (p.Arg1553fs)	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES [RCV001182006]\|Neurodevelopmental disorder [RCV001261839]	pathogenic\|likely pathogenic	17	63420386	63420386	Human	2	name
38464830	CV961539	single nucleotide variant	NM_001394998.1(TANC2):c.1685A>G (p.Tyr562Cys)	TANC2-related neurodevelopmental disorders [RCV001249772]	uncertain significance	17	63340210	63340210	Human		name , trait
40814993	CV970334	single nucleotide variant	NM_001394998.1(TANC2):c.2486G>A (p.Arg829His)	Autism spectrum disorder [RCV001261688]	uncertain significance	17	63355294	63355294	Human	2	name
40814995	CV970335	single nucleotide variant	NM_001394998.1(TANC2):c.2500C>T (p.Arg834Cys)	Inborn genetic diseases [RCV001267477]\|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002471067]\|Intellectual disability [RCV001261689]	uncertain significance	17	63355308	63355308	Human	4	name
40814997	CV970337	single nucleotide variant	NM_001394998.1(TANC2):c.2603C>T (p.Ala868Val)	Schizophrenia [RCV001261690]	uncertain significance	17	63379738	63379738	Human	2	name
40815170	CV970338	deletion	NM_001394998.1(TANC2):c.3003del (p.Ala1002fs)	Neurodevelopmental disorder [RCV001261844]	likely pathogenic	17	63389496	63389496	Human	1	name
40815163	CV970340	deletion	NM_001394998.1(TANC2):c.4080del (p.Glu1361fs)	Epilepsy [RCV001261836]	likely pathogenic	17	63415587	63415587	Human	2	name
150335298	CV1166260	single nucleotide variant	NM_001394998.1(TANC2):c.4891C>T (p.Pro1631Ser)	not provided [RCV001531441]	uncertain significance	17	63420621	63420621	Human		name
150438258	CV1286817	single nucleotide variant	NM_001394998.1(TANC2):c.5350C>T (p.Arg1784Ter)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001724763]	likely pathogenic	17	63421080	63421080	Human	1	name
150528955	CV1288582	single nucleotide variant	NM_001394998.1(TANC2):c.5340T>A (p.Asp1780Glu)	not provided [RCV001727050]	uncertain significance	17	63421070	63421070	Human		name
150532124	CV1306244	single nucleotide variant	NM_001394998.1(TANC2):c.6211G>T (p.Glu2071Ter)	not provided [RCV001757433]	uncertain significance	17	63421941	63421941	Human		name
150532479	CV1306760	single nucleotide variant	NM_001394998.1(TANC2):c.3290G>A (p.Arg1097Gln)	not provided [RCV001757758]	uncertain significance	17	63398873	63398873	Human		name
151352040	CV1322243	single nucleotide variant	NM_001394998.1(TANC2):c.4703C>T (p.Ser1568Phe)	not provided [RCV001806866]	uncertain significance	17	63420433	63420433	Human		name
151349435	CV1325368	single nucleotide variant	NM_001394998.1(TANC2):c.5312G>T (p.Cys1771Phe)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001814653]	uncertain significance	17	63421042	63421042	Human	1	name
151352900	CV1326264	single nucleotide variant	NM_001394998.1(TANC2):c.5085G>T (p.Gln1695His)	not provided [RCV001815835]	uncertain significance	17	63420815	63420815	Human		name
151719930	CV1336782	single nucleotide variant	NM_001394998.1(TANC2):c.3727C>G (p.Pro1243Ala)	Inborn genetic diseases [RCV002545282]\|not provided [RCV002034823]	uncertain significance	17	63411648	63411648	Human	1	name
151709245	CV1490493	single nucleotide variant	NM_001394998.1(TANC2):c.5683C>A (p.Pro1895Thr)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002290809]\|not provided [RCV001992632]	uncertain significance	17	63421413	63421413	Human	1	name
151831453	CV1490502	single nucleotide variant	NM_001394998.1(TANC2):c.5612A>G (p.Asn1871Ser)	not provided [RCV001985152]	uncertain significance	17	63421342	63421342	Human		name
152060586	CV1667069	single nucleotide variant	NM_001394998.1(TANC2):c.3805G>A (p.Val1269Ile)	not provided [RCV002211415]	uncertain significance	17	63412037	63412037	Human		name
152980924	CV1676228	single nucleotide variant	NM_001394998.1(TANC2):c.3183G>T (p.Lys1061Asn)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002245305]	uncertain significance	17	63395874	63395874	Human	1	name
152999160	CV1679603	duplication	NM_001394998.1(TANC2):c.213_228dup (p.Ile77fs)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002250992]	likely pathogenic\|uncertain significance	17	63099245	63099246	Human	1	name
153304843	CV1687289	single nucleotide variant	NM_001394998.1(TANC2):c.4442C>T (p.Pro1481Leu)	not provided [RCV002263107]	likely benign	17	63420172	63420172	Human		name
153304844	CV1687290	single nucleotide variant	NM_001394998.1(TANC2):c.6067A>G (p.Ser2023Gly)	not provided [RCV002263108]	uncertain significance	17	63421797	63421797	Human		name
153301304	CV1689152	deletion	NM_001394998.1(TANC2):c.323-24667_323-24660del	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002266880]	uncertain significance	17	63126601	63126608	Human	1	name
153346341	CV1691663	single nucleotide variant	NM_001394998.1(TANC2):c.5519G>A (p.Ser1840Asn)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002273146]	conflicting interpretations of pathogenicity\|uncertain significance	17	63421249	63421249	Human	1	name
155642438	CV1707393	single nucleotide variant	NM_001394998.1(TANC2):c.4452G>T (p.Gln1484His)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002288323]	uncertain significance	17	63420182	63420182	Human	1	name
155643888	CV1708200	single nucleotide variant	NM_001394998.1(TANC2):c.5594G>A (p.Arg1865His)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002290189]	uncertain significance	17	63421324	63421324	Human	1	name
155802954	CV1857865	single nucleotide variant	NM_001394998.1(TANC2):c.3575T>C (p.Phe1192Ser)	not provided [RCV002461715]	uncertain significance	17	63406263	63406263	Human		name
155797602	CV1859422	single nucleotide variant	NM_001394998.1(TANC2):c.4547G>A (p.Arg1516Gln)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002465049]	uncertain significance	17	63420277	63420277	Human	1	name
155953802	CV1936219	single nucleotide variant	NM_001394998.1(TANC2):c.3608T>C (p.Met1203Thr)	Inborn genetic diseases [RCV004064296]\|not provided [RCV002511878]	likely benign	17	63411529	63411529	Human	1	name
156437222	CV1937052	single nucleotide variant	NM_001394998.1(TANC2):c.4715C>T (p.Ala1572Val)	not provided [RCV003106753]	uncertain significance	17	63420445	63420445	Human		name
156230293	CV1955965	single nucleotide variant	NM_001394998.1(TANC2):c.3698C>T (p.Thr1233Ile)	not provided [RCV002575846]	uncertain significance	17	63411619	63411619	Human		name
156125072	CV2046624	single nucleotide variant	NM_001394998.1(TANC2):c.3457C>A (p.His1153Asn)	not provided [RCV002800383]	uncertain significance	17	63405247	63405247	Human		name
156320246	CV2197256	single nucleotide variant	NM_001394998.1(TANC2):c.5243T>C (p.Ile1748Thr)	Inborn genetic diseases [RCV002649116]	uncertain significance	17	63420973	63420973	Human	1	name
156254775	CV2203312	single nucleotide variant	NM_001394998.1(TANC2):c.4025G>A (p.Gly1342Asp)	Inborn genetic diseases [RCV002668599]	uncertain significance	17	63415532	63415532	Human	1	name
155922349	CV2207471	single nucleotide variant	NM_001394998.1(TANC2):c.3044G>A (p.Arg1015Gln)	Inborn genetic diseases [RCV002683037]	uncertain significance	17	63389537	63389537	Human	1	name
156113033	CV2212643	single nucleotide variant	NM_001394998.1(TANC2):c.3886G>A (p.Gly1296Arg)	Inborn genetic diseases [RCV002707331]	uncertain significance	17	63412118	63412118	Human	1	name
156150917	CV2213114	single nucleotide variant	NM_001394998.1(TANC2):c.4786G>A (p.Gly1596Arg)	Inborn genetic diseases [RCV002697640]	uncertain significance	17	63420516	63420516	Human	1	name
156338216	CV2224907	single nucleotide variant	NM_001394998.1(TANC2):c.4943A>C (p.Tyr1648Ser)	Inborn genetic diseases [RCV002718805]	uncertain significance	17	63420673	63420673	Human	1	name
156123418	CV2227245	single nucleotide variant	NM_001394998.1(TANC2):c.6044G>C (p.Arg2015Pro)	Inborn genetic diseases [RCV002707992]	uncertain significance	17	63421774	63421774	Human	1	name
156119591	CV2228968	single nucleotide variant	NM_001394998.1(TANC2):c.3259C>G (p.Leu1087Val)	Inborn genetic diseases [RCV002762213]\|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003147834]	uncertain significance	17	63398842	63398842	Human	2	name
156230952	CV2235106	single nucleotide variant	NM_001394998.1(TANC2):c.5254G>C (p.Val1752Leu)	Inborn genetic diseases [RCV002767648]	likely benign	17	63420984	63420984	Human	1	name
155975730	CV2235929	single nucleotide variant	NM_001394998.1(TANC2):c.4013T>A (p.Phe1338Tyr)	Inborn genetic diseases [RCV002777253]	uncertain significance	17	63413627	63413627	Human	1	name
156057943	CV2262850	single nucleotide variant	NM_001394998.1(TANC2):c.5080G>A (p.Ala1694Thr)	Inborn genetic diseases [RCV002822708]	uncertain significance	17	63420810	63420810	Human	1	name
156132764	CV2276658	single nucleotide variant	NM_001394998.1(TANC2):c.4048C>T (p.Arg1350Cys)	Inborn genetic diseases [RCV002849803]	uncertain significance	17	63415555	63415555	Human	1	name
156135274	CV2284723	single nucleotide variant	NM_001394998.1(TANC2):c.5710T>C (p.Cys1904Arg)	Inborn genetic diseases [RCV002849953]	uncertain significance	17	63421440	63421440	Human	1	name
155905727	CV2303169	single nucleotide variant	NM_001394998.1(TANC2):c.4353A>C (p.Arg1451Ser)	Inborn genetic diseases [RCV002901759]	uncertain significance	17	63420083	63420083	Human	1	name
156303007	CV2308166	single nucleotide variant	NM_001394998.1(TANC2):c.4480A>G (p.Ile1494Val)	Inborn genetic diseases [RCV002898113]	uncertain significance	17	63420210	63420210	Human	1	name
156184849	CV2324617	single nucleotide variant	NM_001394998.1(TANC2):c.5426A>G (p.Tyr1809Cys)	Inborn genetic diseases [RCV002930637]\|not provided [RCV003222474]	likely benign	17	63421156	63421156	Human	1	name
156177882	CV2327268	single nucleotide variant	NM_001394998.1(TANC2):c.5186A>G (p.Gln1729Arg)	Inborn genetic diseases [RCV002916944]	uncertain significance	17	63420916	63420916	Human	1	name
155966281	CV2329784	single nucleotide variant	NM_001394998.1(TANC2):c.5377G>A (p.Val1793Met)	Inborn genetic diseases [RCV002945380]\|not provided [RCV005412499]	likely benign	17	63421107	63421107	Human	1	name
155901956	CV2345899	single nucleotide variant	NM_001394998.1(TANC2):c.5131G>A (p.Val1711Ile)	Inborn genetic diseases [RCV002989896]	likely benign	17	63420861	63420861	Human	1	name
155983763	CV2348095	single nucleotide variant	NM_001394998.1(TANC2):c.5242A>G (p.Ile1748Val)	Inborn genetic diseases [RCV002946908]\|not provided [RCV004598250]	likely benign	17	63420972	63420972	Human	1	name
156343768	CV2349239	single nucleotide variant	NM_001394998.1(TANC2):c.4400C>T (p.Pro1467Leu)	Inborn genetic diseases [RCV002965616]	uncertain significance	17	63420130	63420130	Human	1	name
156068067	CV2356789	single nucleotide variant	NM_001394998.1(TANC2):c.3559C>G (p.Leu1187Val)	Inborn genetic diseases [RCV003000577]	uncertain significance	17	63406247	63406247	Human	1	name
156072268	CV2365373	single nucleotide variant	NM_001394998.1(TANC2):c.4601G>A (p.Arg1534Gln)	Inborn genetic diseases [RCV003000805]\|not provided [RCV003427660]	likely benign	17	63420331	63420331	Human	1	name
156347825	CV2375561	single nucleotide variant	NM_001394998.1(TANC2):c.3857C>T (p.Thr1286Ile)	Inborn genetic diseases [RCV002719931]	uncertain significance	17	63412089	63412089	Human	1	name
155992074	CV2379271	single nucleotide variant	NM_001394998.1(TANC2):c.4894G>A (p.Ala1632Thr)	Inborn genetic diseases [RCV002689301]	uncertain significance	17	63420624	63420624	Human	1	name
156208739	CV2382540	single nucleotide variant	NM_001394998.1(TANC2):c.4357G>A (p.Glu1453Lys)	Inborn genetic diseases [RCV002743931]\|TANC2-related disorder [RCV003954033]\|not provided [RCV003427678]	likely benign	17	63420087	63420087	Human	2	name , trait , alternate_id
156057850	CV2383290	single nucleotide variant	NM_001394998.1(TANC2):c.5495C>T (p.Ser1832Leu)	Inborn genetic diseases [RCV002693235]	uncertain significance	17	63421225	63421225	Human	1	name
156257724	CV2383606	single nucleotide variant	NM_001394998.1(TANC2):c.4615A>G (p.Ile1539Val)	Inborn genetic diseases [RCV002714370]	likely benign	17	63420345	63420345	Human	1	name
156003728	CV2396786	single nucleotide variant	NM_001394998.1(TANC2):c.4522T>C (p.Ser1508Pro)	Inborn genetic diseases [RCV002734376]	uncertain significance	17	63420252	63420252	Human	1	name
156102975	CV2400174	single nucleotide variant	NM_001394998.1(TANC2):c.5204T>C (p.Ile1735Thr)	Inborn genetic diseases [RCV002785030]\|not provided [RCV003326659]	likely benign	17	63420934	63420934	Human	1	name
156440032	CV2401716	single nucleotide variant	NM_001394998.1(TANC2):c.5603C>T (p.Pro1868Leu)	not provided [RCV003110004]	uncertain significance	17	63421333	63421333	Human		name
156448607	CV2402014	single nucleotide variant	NM_001394998.1(TANC2):c.5585T>A (p.Val1862Glu)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003120173]	uncertain significance	17	63421315	63421315	Human	1	name
156434520	CV2402980	single nucleotide variant	NM_001394998.1(TANC2):c.5737A>G (p.Thr1913Ala)	not provided [RCV003126408]	uncertain significance	17	63421467	63421467	Human		name
156435286	CV2403515	single nucleotide variant	NM_001394998.1(TANC2):c.3073G>A (p.Gly1025Arg)	Autism spectrum disorder [RCV003127451]	likely benign	17	63395764	63395764	Human	2	name
156435288	CV2403517	single nucleotide variant	NM_001394998.1(TANC2):c.3866T>C (p.Val1289Ala)	Autism spectrum disorder [RCV003127453]	likely benign	17	63412098	63412098	Human	2	name
156435289	CV2403518	single nucleotide variant	NM_001394998.1(TANC2):c.4328G>A (p.Arg1443His)	Autism spectrum disorder [RCV003127454]	likely benign	17	63420058	63420058	Human	2	name
156435291	CV2403519	single nucleotide variant	NM_001394998.1(TANC2):c.5596T>G (p.Phe1866Val)	Autism spectrum disorder [RCV003127455]	likely benign	17	63421326	63421326	Human	2	name
243051371	CV2403938	single nucleotide variant	NM_001394998.1(TANC2):c.5923T>G (p.Phe1975Val)	not provided [RCV003128902]	uncertain significance	17	63421653	63421653	Human		name
243062848	CV2413939	single nucleotide variant	NM_001394998.1(TANC2):c.4370G>A (p.Arg1457Lys)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140858]	uncertain significance	17	63420100	63420100	Human	1	name
243062849	CV2413940	single nucleotide variant	NM_001394998.1(TANC2):c.6098T>C (p.Val2033Ala)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140859]	uncertain significance	17	63421828	63421828	Human	1	name
243062851	CV2413942	single nucleotide variant	NM_001394998.1(TANC2):c.5404G>A (p.Gly1802Arg)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140861]	uncertain significance	17	63421134	63421134	Human	1	name
243062852	CV2413943	single nucleotide variant	NM_001394998.1(TANC2):c.6121C>G (p.Gln2041Glu)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140862]	uncertain significance	17	63421851	63421851	Human	1	name
243062854	CV2413945	single nucleotide variant	NM_001394998.1(TANC2):c.5403C>G (p.Ile1801Met)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140864]	uncertain significance	17	63421133	63421133	Human	1	name
243062858	CV2413949	single nucleotide variant	NM_001394998.1(TANC2):c.6077C>T (p.Ser2026Phe)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003140868]	uncertain significance	17	63421807	63421807	Human	1	name
243051325	CV2415822	single nucleotide variant	NM_001394998.1(TANC2):c.4912T>C (p.Tyr1638His)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003148432]	uncertain significance	17	63420642	63420642	Human	1	name
243053770	CV2418276	single nucleotide variant	NM_001394998.1(TANC2):c.3373C>T (p.Arg1125Cys)	not provided [RCV003154338]	uncertain significance	17	63405163	63405163	Human		name
329391341	CV2447740	single nucleotide variant	NM_001394998.1(TANC2):c.5017T>C (p.Tyr1673His)	Inborn genetic diseases [RCV003191966]	uncertain significance	17	63420747	63420747	Human	1	name
329378173	CV2459063	single nucleotide variant	NM_001394998.1(TANC2):c.4595C>G (p.Pro1532Arg)	Inborn genetic diseases [RCV003212053]	uncertain significance	17	63420325	63420325	Human	1	name
329362598	CV2464036	single nucleotide variant	NM_001394998.1(TANC2):c.5480G>C (p.Gly1827Ala)	Inborn genetic diseases [RCV003206107]	uncertain significance	17	63421210	63421210	Human	1	name
329393676	CV2472077	single nucleotide variant	NM_001394998.1(TANC2):c.5972A>G (p.Asn1991Ser)	Inborn genetic diseases [RCV003218431]	uncertain significance	17	63421702	63421702	Human	1	name
329395295	CV2473080	single nucleotide variant	NM_001394998.1(TANC2):c.4781A>G (p.Gln1594Arg)	not provided [RCV003219064]	uncertain significance	17	63420511	63420511	Human		name
329352079	CV2476700	single nucleotide variant	NM_001394998.1(TANC2):c.6044G>A (p.Arg2015His)	Inborn genetic diseases [RCV004285586]\|not provided [RCV003222932]	likely benign	17	63421774	63421774	Human	1	name
329350038	CV2477255	single nucleotide variant	NM_001394998.1(TANC2):c.4366T>C (p.Cys1456Arg)	not provided [RCV003221580]	uncertain significance	17	63420096	63420096	Human		name
329953434	CV2668413	single nucleotide variant	NM_001394998.1(TANC2):c.3656A>G (p.His1219Arg)	not provided [RCV003230066]	uncertain significance	17	63411577	63411577	Human		name
401759239	CV2701449	single nucleotide variant	NM_001394998.1(TANC2):c.4880G>A (p.Arg1627Gln)	Inborn genetic diseases [RCV003256804]	uncertain significance	17	63420610	63420610	Human	1	name
401720636	CV2702011	single nucleotide variant	NM_001394998.1(TANC2):c.6085C>G (p.Pro2029Ala)	Inborn genetic diseases [RCV003267293]	uncertain significance	17	63421815	63421815	Human	1	name
401777939	CV2704467	single nucleotide variant	NM_001394998.1(TANC2):c.5654C>T (p.Pro1885Leu)	Inborn genetic diseases [RCV003286903]	uncertain significance	17	63421384	63421384	Human	1	name
401764531	CV2721354	single nucleotide variant	NM_001394998.1(TANC2):c.4855C>G (p.Pro1619Ala)	Inborn genetic diseases [RCV003258596]	uncertain significance	17	63420585	63420585	Human	1	name
401725780	CV2735956	single nucleotide variant	NM_001394998.1(TANC2):c.4936G>A (p.Val1646Met)	not provided [RCV003312400]	uncertain significance	17	63420666	63420666	Human		name
401732106	CV2736667	single nucleotide variant	NM_001394998.1(TANC2):c.5099A>C (p.Asn1700Thr)	not provided [RCV003313429]	uncertain significance	17	63420829	63420829	Human		name
401829426	CV2743795	single nucleotide variant	NM_001394998.1(TANC2):c.5642C>G (p.Pro1881Arg)	not provided [RCV003326971]	uncertain significance	17	63421372	63421372	Human		name
401830323	CV2748025	single nucleotide variant	NM_001394998.1(TANC2):c.4027A>G (p.Lys1343Glu)	not provided [RCV003329632]	uncertain significance	17	63415534	63415534	Human		name
401870974	CV2749454	single nucleotide variant	NM_001394998.1(TANC2):c.4124T>C (p.Val1375Ala)	not provided [RCV003332582]	uncertain significance	17	63415631	63415631	Human		name
401860326	CV2749496	single nucleotide variant	NM_001394998.1(TANC2):c.3199C>G (p.Gln1067Glu)	not provided [RCV003332624]	uncertain significance	17	63395890	63395890	Human		name
401873576	CV2749776	single nucleotide variant	NM_001394998.1(TANC2):c.4927G>T (p.Gly1643Cys)	not provided [RCV003332905]	uncertain significance	17	63420657	63420657	Human		name
401856358	CV2752449	single nucleotide variant	NM_001394998.1(TANC2):c.4471G>A (p.Val1491Ile)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003340787]	uncertain significance	17	63420201	63420201	Human	1	name
401860089	CV2765466	single nucleotide variant	NM_001394998.1(TANC2):c.3161A>G (p.Gln1054Arg)	Inborn genetic diseases [RCV003342133]\|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003492870]\|not provided [RCV004721181]	uncertain significance	17	63395852	63395852	Human	2	name
401860151	CV2768502	single nucleotide variant	NM_001394998.1(TANC2):c.5525A>G (p.Asn1842Ser)	Inborn genetic diseases [RCV003357362]	uncertain significance	17	63421255	63421255	Human	1	name
401898176	CV2781033	single nucleotide variant	NM_001394998.1(TANC2):c.5593C>T (p.Arg1865Cys)	Inborn genetic diseases [RCV003376328]	uncertain significance	17	63421323	63421323	Human	1	name
401911389	CV2800293	single nucleotide variant	NM_001394998.1(TANC2):c.5483C>G (p.Ser1828Cys)	TANC2-related disorder [RCV003399532]	uncertain significance	17	63421213	63421213	Human		name , trait , alternate_id
401906167	CV2802380	single nucleotide variant	NM_001394998.1(TANC2):c.4327C>T (p.Arg1443Cys)	TANC2-related disorder [RCV003421041]	uncertain significance	17	63420057	63420057	Human		name , trait , alternate_id
401914593	CV2808166	single nucleotide variant	NM_001394998.1(TANC2):c.3350G>C (p.Gly1117Ala)	not provided [RCV003428385]	benign\|likely benign	17	63405140	63405140	Human		name
401914600	CV2808169	single nucleotide variant	NM_001394998.1(TANC2):c.3868G>C (p.Val1290Leu)	not provided [RCV003428388]	uncertain significance	17	63412100	63412100	Human		name
401914601	CV2808170	single nucleotide variant	NM_001394998.1(TANC2):c.3944C>T (p.Ala1315Val)	not provided [RCV003428389]	uncertain significance	17	63413558	63413558	Human		name
401906487	CV2808171	single nucleotide variant	NM_001394998.1(TANC2):c.4111C>T (p.Arg1371Trp)	not provided [RCV003421409]	uncertain significance	17	63415618	63415618	Human		name
401906488	CV2808175	single nucleotide variant	NM_001394998.1(TANC2):c.4925C>G (p.Ser1642Cys)	not provided [RCV003421410]	uncertain significance	17	63420655	63420655	Human		name
401935840	CV2808176	single nucleotide variant	NM_001394998.1(TANC2):c.5228T>A (p.Val1743Asp)	not provided [RCV003413302]	uncertain significance	17	63420958	63420958	Human		name
401914611	CV2808177	single nucleotide variant	NM_001394998.1(TANC2):c.5462G>A (p.Arg1821His)	not provided [RCV003428393]	likely benign	17	63421192	63421192	Human		name
401914616	CV2808181	single nucleotide variant	NM_001394998.1(TANC2):c.5869G>C (p.Val1957Leu)	Inborn genetic diseases [RCV004364550]\|not provided [RCV003428395]	uncertain significance	17	63421599	63421599	Human	1	name
401914623	CV2808185	single nucleotide variant	NM_001394998.1(TANC2):c.6203C>T (p.Pro2068Leu)	not provided [RCV003428398]	uncertain significance	17	63421933	63421933	Human		name
401916776	CV2829484	single nucleotide variant	NM_001394998.1(TANC2):c.4730A>G (p.His1577Arg)	not provided [RCV003443528]	uncertain significance	17	63420460	63420460	Human		name
401917038	CV2829630	single nucleotide variant	NM_001394998.1(TANC2):c.3329C>T (p.Thr1110Ile)	not provided [RCV003443674]	uncertain significance	17	63398912	63398912	Human		name
401913970	CV2830502	single nucleotide variant	NM_001394998.1(TANC2):c.5767C>T (p.Arg1923Ter)	not provided [RCV003442240]	uncertain significance	17	63421497	63421497	Human		name
405869461	CV2832002	single nucleotide variant	NM_001394998.1(TANC2):c.3782A>G (p.Asp1261Gly)	not provided [RCV004573014]	uncertain significance	17	63412014	63412014	Human		name
402475506	CV2915953	single nucleotide variant	NM_001394998.1(TANC2):c.4393C>A (p.Pro1465Thr)	not provided [RCV003571245]	uncertain significance	17	63420123	63420123	Human		name
405265267	CV3185553	single nucleotide variant	NM_001394998.1(TANC2):c.6076T>G (p.Ser2026Ala)	Inborn genetic diseases [RCV004369688]\|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV005030356]\|not provided [RCV003886117]	likely benign\|uncertain significance	17	63421806	63421806	Human	2	name
405261087	CV3186049	single nucleotide variant	NM_001394998.1(TANC2):c.3996G>A (p.Met1332Ile)	not provided [RCV003885125]	uncertain significance	17	63413610	63413610	Human		name
405261116	CV3186061	single nucleotide variant	NM_001394998.1(TANC2):c.4477G>A (p.Asp1493Asn)	not provided [RCV003885137]	likely benign	17	63420207	63420207	Human		name
405259494	CV3186293	single nucleotide variant	NM_001394998.1(TANC2):c.5549C>T (p.Pro1850Leu)	not provided [RCV003884052]	likely benign	17	63421279	63421279	Human		name
405267121	CV3186771	single nucleotide variant	NM_001394998.1(TANC2):c.4807C>G (p.Pro1603Ala)	not provided [RCV003886852]	uncertain significance	17	63420537	63420537	Human		name
405269676	CV3187437	single nucleotide variant	NM_001394998.1(TANC2):c.4967A>G (p.Gln1656Arg)	not provided [RCV003887521]	uncertain significance	17	63420697	63420697	Human		name
405269751	CV3187470	single nucleotide variant	NM_001394998.1(TANC2):c.5080G>T (p.Ala1694Ser)	not provided [RCV003887554]	uncertain significance	17	63420810	63420810	Human		name
405269800	CV3187493	single nucleotide variant	NM_001394998.1(TANC2):c.3980T>A (p.Leu1327Gln)	not provided [RCV003887577]	uncertain significance	17	63413594	63413594	Human		name
405259534	CV3189680	single nucleotide variant	NM_001394998.1(TANC2):c.3388C>T (p.Gln1130Ter)	TANC2-related disorder [RCV003894273]	likely pathogenic	17	63405178	63405178	Human		name , trait , alternate_id
405282787	CV3191172	single nucleotide variant	NM_001394998.1(TANC2):c.4849C>A (p.Pro1617Thr)	TANC2-related disorder [RCV003921582]	uncertain significance	17	63420579	63420579	Human		name , trait , alternate_id
405274834	CV3199853	single nucleotide variant	NM_001394998.1(TANC2):c.5650C>T (p.Arg1884Trp)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV005392755]\|TANC2-related disorder [RCV003973893]	uncertain significance	17	63421380	63421380	Human	1	name , trait , alternate_id
405266708	CV3202069	single nucleotide variant	NM_001394998.1(TANC2):c.4684A>T (p.Thr1562Ser)	TANC2-related disorder [RCV003911550]	uncertain significance	17	63420414	63420414	Human		name , trait , alternate_id
405270654	CV3212060	single nucleotide variant	NM_001394998.1(TANC2):c.3202G>A (p.Ala1068Thr)	TANC2-related disorder [RCV003949441]	uncertain significance	17	63395893	63395893	Human		name , trait , alternate_id
405294876	CV3214898	single nucleotide variant	NM_001394998.1(TANC2):c.3661T>C (p.Ser1221Pro)	TANC2-related disorder [RCV003936764]\|not provided [RCV004585084]	benign\|likely benign	17	63411582	63411582	Human	1	name , trait , alternate_id
405291306	CV3222292	single nucleotide variant	NM_001394998.1(TANC2):c.6053T>C (p.Leu2018Pro)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003985174]	uncertain significance	17	63421783	63421783	Human	1	name
405701371	CV3225977	single nucleotide variant	NM_001394998.1(TANC2):c.5222G>A (p.Arg1741Gln)	Inborn genetic diseases [RCV004674012]\|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003989418]	uncertain significance	17	63420952	63420952	Human	2	name
405696979	CV3226795	single nucleotide variant	NM_001394998.1(TANC2):c.3221G>C (p.Ser1074Thr)	not provided [RCV003993189]	uncertain significance	17	63395912	63395912	Human		name
405654076	CV3228098	single nucleotide variant	NM_001394998.1(TANC2):c.6154T>C (p.Ser2052Pro)	not specified [RCV003994832]	uncertain significance	17	63421884	63421884	Human		name
405763477	CV3327789	single nucleotide variant	NM_001394998.1(TANC2):c.3449G>A (p.Arg1150His)	Inborn genetic diseases [RCV004469033]	uncertain significance	17	63405239	63405239	Human	1	name
405763482	CV3327790	single nucleotide variant	NM_001394998.1(TANC2):c.3670C>T (p.Arg1224Cys)	Inborn genetic diseases [RCV004469034]	uncertain significance	17	63411591	63411591	Human	1	name
405763489	CV3327791	single nucleotide variant	NM_001394998.1(TANC2):c.3695C>T (p.Ala1232Val)	Inborn genetic diseases [RCV004469035]	uncertain significance	17	63411616	63411616	Human	1	name
405763496	CV3327792	single nucleotide variant	NM_001394998.1(TANC2):c.4095G>C (p.Glu1365Asp)	Inborn genetic diseases [RCV004469036]	uncertain significance	17	63415602	63415602	Human	1	name
405763503	CV3327793	single nucleotide variant	NM_001394998.1(TANC2):c.4712C>T (p.Pro1571Leu)	Inborn genetic diseases [RCV004469037]	uncertain significance	17	63420442	63420442	Human	1	name
405763509	CV3327794	single nucleotide variant	NM_001394998.1(TANC2):c.4886G>C (p.Ser1629Thr)	Inborn genetic diseases [RCV004469038]	uncertain significance	17	63420616	63420616	Human	1	name
405763517	CV3327795	single nucleotide variant	NM_001394998.1(TANC2):c.4925C>T (p.Ser1642Phe)	Inborn genetic diseases [RCV004469039]	uncertain significance	17	63420655	63420655	Human	1	name
405763524	CV3327796	single nucleotide variant	NM_001394998.1(TANC2):c.4955C>T (p.Thr1652Ile)	Inborn genetic diseases [RCV004469040]	uncertain significance	17	63420685	63420685	Human	1	name
405763530	CV3327797	single nucleotide variant	NM_001394998.1(TANC2):c.5233C>T (p.Gln1745Ter)	Inborn genetic diseases [RCV004469041]	likely pathogenic	17	63420963	63420963	Human	1	name
405763543	CV3327799	single nucleotide variant	NM_001394998.1(TANC2):c.5528C>A (p.Pro1843His)	Inborn genetic diseases [RCV004469043]	uncertain significance	17	63421258	63421258	Human	1	name
405763554	CV3327801	single nucleotide variant	NM_001394998.1(TANC2):c.5798T>C (p.Ile1933Thr)	Inborn genetic diseases [RCV004469045]	uncertain significance	17	63421528	63421528	Human	1	name
405763560	CV3327802	single nucleotide variant	NM_001394998.1(TANC2):c.6169C>A (p.Gln2057Lys)	Inborn genetic diseases [RCV004469046]	uncertain significance	17	63421899	63421899	Human	1	name
405855276	CV3394038	single nucleotide variant	NM_001394998.1(TANC2):c.3671G>A (p.Arg1224His)	Inborn genetic diseases [RCV005281533]\|Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004547264]	uncertain significance	17	63411592	63411592	Human	2	name
405871853	CV3398105	single nucleotide variant	NM_001394998.1(TANC2):c.4633G>A (p.Gly1545Ser)	not provided [RCV004575106]	uncertain significance	17	63420363	63420363	Human		name
407425010	CV3411037	single nucleotide variant	NM_001394998.1(TANC2):c.4795C>T (p.Arg1599Cys)	not provided [RCV004588727]	uncertain significance	17	63420525	63420525	Human		name
407511625	CV3475172	single nucleotide variant	NM_001394998.1(TANC2):c.5848C>T (p.Arg1950Trp)	Inborn genetic diseases [RCV004673166]	uncertain significance	17	63421578	63421578	Human	1	name
407511629	CV3475175	single nucleotide variant	NM_001394998.1(TANC2):c.3149C>T (p.Thr1050Met)	Inborn genetic diseases [RCV004673168]	likely benign	17	63395840	63395840	Human	1	name
407511633	CV3475177	single nucleotide variant	NM_001394998.1(TANC2):c.6037G>A (p.Gly2013Arg)	Inborn genetic diseases [RCV004673170]	uncertain significance	17	63421767	63421767	Human	1	name
407511637	CV3475179	single nucleotide variant	NM_001394998.1(TANC2):c.3097G>A (p.Ala1033Thr)	Inborn genetic diseases [RCV004673172]	uncertain significance	17	63395788	63395788	Human	1	name
407530498	CV3475180	single nucleotide variant	NM_001394998.1(TANC2):c.6187A>G (p.Ile2063Val)	Inborn genetic diseases [RCV004681940]	uncertain significance	17	63421917	63421917	Human	1	name
407530500	CV3475184	single nucleotide variant	NM_001394998.1(TANC2):c.4901G>C (p.Ser1634Thr)	Inborn genetic diseases [RCV004681941]	uncertain significance	17	63420631	63420631	Human	1	name
407511646	CV3475185	single nucleotide variant	NM_001394998.1(TANC2):c.3889G>A (p.Ala1297Thr)	Inborn genetic diseases [RCV004673176]	uncertain significance	17	63412121	63412121	Human	1	name
407511649	CV3475187	single nucleotide variant	NM_001394998.1(TANC2):c.3956C>T (p.Ser1319Phe)	Inborn genetic diseases [RCV004673177]	uncertain significance	17	63413570	63413570	Human	1	name
407573989	CV3498338	single nucleotide variant	NM_001394998.1(TANC2):c.4741C>A (p.His1581Asn)	not specified [RCV004702813]	uncertain significance	17	63420471	63420471	Human		name
408382361	CV3504524	single nucleotide variant	NM_001394998.1(TANC2):c.4871C>T (p.Pro1624Leu)	TANC2-related disorder [RCV004729826]	uncertain significance	17	63420601	63420601	Human		name , trait , alternate_id
408371045	CV3504670	single nucleotide variant	NM_001394998.1(TANC2):c.5693C>T (p.Pro1898Leu)	TANC2-related disorder [RCV004724377]	uncertain significance	17	63421423	63421423	Human		name , trait , alternate_id
408374782	CV3507552	single nucleotide variant	NM_001394998.1(TANC2):c.3469G>A (p.Val1157Ile)	TANC2-related disorder [RCV004747493]	uncertain significance	17	63406157	63406157	Human		name , trait , alternate_id
408375159	CV3510078	single nucleotide variant	NM_001394998.1(TANC2):c.5011C>T (p.Arg1671Trp)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV005230783]\|TANC2-related disorder [RCV004747811]	uncertain significance	17	63420741	63420741	Human	1	name , trait , alternate_id
408375234	CV3510943	single nucleotide variant	NM_001394998.1(TANC2):c.5150A>G (p.Tyr1717Cys)	TANC2-related disorder [RCV004747918]	uncertain significance	17	63420880	63420880	Human		name , trait , alternate_id
408374679	CV3517959	single nucleotide variant	NM_001394998.1(TANC2):c.5823G>T (p.Gln1941His)	TANC2-related disorder [RCV004747006]	uncertain significance	17	63421553	63421553	Human		name , trait , alternate_id
408393357	CV3519787	single nucleotide variant	NM_001394998.1(TANC2):c.3221G>A (p.Ser1074Asn)	not provided [RCV004764083]	uncertain significance	17	63395912	63395912	Human		name
408385798	CV3520356	single nucleotide variant	NM_001394998.1(TANC2):c.5918A>G (p.Glu1973Gly)	not provided [RCV004760177]	uncertain significance	17	63421648	63421648	Human		name
408385996	CV3520458	single nucleotide variant	NM_001394998.1(TANC2):c.3127T>G (p.Phe1043Val)	not provided [RCV004760279]	uncertain significance	17	63395818	63395818	Human		name
408391572	CV3521372	single nucleotide variant	NM_001394998.1(TANC2):c.4801A>C (p.Ser1601Arg)	not provided [RCV004763194]	uncertain significance	17	63420531	63420531	Human		name
408380962	CV3523717	single nucleotide variant	NM_001394998.1(TANC2):c.6061C>T (p.Arg2021Ter)	not provided [RCV004766115]	uncertain significance	17	63421791	63421791	Human		name
408382014	CV3524076	single nucleotide variant	NM_001394998.1(TANC2):c.3736C>G (p.Leu1246Val)	not provided [RCV004766474]	uncertain significance	17	63411657	63411657	Human		name
408386714	CV3524192	single nucleotide variant	NM_001394998.1(TANC2):c.4580C>T (p.Pro1527Leu)	not provided [RCV004768066]	uncertain significance	17	63420310	63420310	Human		name
408384911	CV3525996	single nucleotide variant	NM_001394998.1(TANC2):c.3632T>G (p.Leu1211Arg)	not specified [RCV004766907]	uncertain significance	17	63411553	63411553	Human		name
408388201	CV3527411	single nucleotide variant	NM_001394998.1(TANC2):c.3778G>T (p.Val1260Leu)	not provided [RCV004773714]	uncertain significance	17	63412010	63412010	Human		name
408392715	CV3528256	single nucleotide variant	NM_001394998.1(TANC2):c.3568G>A (p.Val1190Met)	not provided [RCV004776024]	uncertain significance	17	63406256	63406256	Human		name
596926716	CV3530878	single nucleotide variant	NM_001394998.1(TANC2):c.5765C>A (p.Thr1922Asn)	not provided [RCV004778463]	uncertain significance	17	63421495	63421495	Human		name
596929139	CV3530973	single nucleotide variant	NM_001394998.1(TANC2):c.4204C>A (p.Leu1402Met)	not provided [RCV004779547]	uncertain significance	17	63418343	63418343	Human		name
596929552	CV3531087	single nucleotide variant	NM_001394998.1(TANC2):c.5951T>C (p.Ile1984Thr)	not provided [RCV004779661]	uncertain significance	17	63421681	63421681	Human		name
596930102	CV3531358	single nucleotide variant	NM_001394998.1(TANC2):c.5146G>C (p.Ala1716Pro)	not provided [RCV004779932]	uncertain significance	17	63420876	63420876	Human		name
596921959	CV3535588	single nucleotide variant	NM_001394998.1(TANC2):c.4546C>T (p.Arg1516Trp)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004785143]	uncertain significance	17	63420276	63420276	Human	1	name
596924899	CV3536805	single nucleotide variant	NM_001394998.1(TANC2):c.4658G>A (p.Arg1553Gln)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004785799]	uncertain significance	17	63420388	63420388	Human	1	name
596922626	CV3537316	single nucleotide variant	NM_001394998.1(TANC2):c.6145A>G (p.Arg2049Gly)	not provided [RCV004787286]	uncertain significance	17	63421875	63421875	Human		name
596942222	CV3542546	single nucleotide variant	NM_001394998.1(TANC2):c.5299G>T (p.Ala1767Ser)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004798130]	uncertain significance	17	63421029	63421029	Human	1	name
596943624	CV3542810	single nucleotide variant	NM_001394998.1(TANC2):c.5226G>C (p.Leu1742Phe)	not provided [RCV004798394]	uncertain significance	17	63420956	63420956	Human		name
596945353	CV3547846	single nucleotide variant	NM_001394998.1(TANC2):c.5642C>T (p.Pro1881Leu)	not provided [RCV004809177]	uncertain significance	17	63421372	63421372	Human		name
596946044	CV3550347	single nucleotide variant	NM_001394998.1(TANC2):c.4900A>G (p.Ser1634Gly)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004818887]	uncertain significance	17	63420630	63420630	Human	1	name
596946304	CV3550569	single nucleotide variant	NM_001394998.1(TANC2):c.4033A>C (p.Lys1345Gln)	not provided [RCV004819108]	uncertain significance	17	63415540	63415540	Human		name
597634123	CV3612279	single nucleotide variant	NM_001394998.1(TANC2):c.3702C>A (p.Asp1234Glu)	Inborn genetic diseases [RCV004969277]	uncertain significance	17	63411623	63411623	Human	1	name
597634125	CV3612280	single nucleotide variant	NM_001394998.1(TANC2):c.5941A>G (p.Ile1981Val)	Inborn genetic diseases [RCV004969278]	uncertain significance	17	63421671	63421671	Human	1	name
597634129	CV3612281	single nucleotide variant	NM_001394998.1(TANC2):c.3749A>G (p.Tyr1250Cys)	Inborn genetic diseases [RCV004969279]	uncertain significance	17	63411670	63411670	Human	1	name
597634134	CV3612282	single nucleotide variant	NM_001394998.1(TANC2):c.3812A>G (p.Tyr1271Cys)	Inborn genetic diseases [RCV004969280]	likely benign	17	63412044	63412044	Human	1	name
597634138	CV3612283	single nucleotide variant	NM_001394998.1(TANC2):c.3683A>G (p.Asp1228Gly)	Inborn genetic diseases [RCV004969281]	likely benign	17	63411604	63411604	Human	1	name
597634147	CV3612285	single nucleotide variant	NM_001394998.1(TANC2):c.5344C>A (p.Pro1782Thr)	Inborn genetic diseases [RCV004969283]	uncertain significance	17	63421074	63421074	Human	1	name
597634154	CV3612287	single nucleotide variant	NM_001394998.1(TANC2):c.3173T>A (p.Val1058Glu)	Inborn genetic diseases [RCV004969285]	uncertain significance	17	63395864	63395864	Human	1	name
597634157	CV3612288	single nucleotide variant	NM_001394998.1(TANC2):c.4464A>G (p.Ile1488Met)	Inborn genetic diseases [RCV004969286]	uncertain significance	17	63420194	63420194	Human	1	name
597634165	CV3612290	single nucleotide variant	NM_001394998.1(TANC2):c.4292A>C (p.Asp1431Ala)	Inborn genetic diseases [RCV004969288]	uncertain significance	17	63420022	63420022	Human	1	name
597634169	CV3612291	single nucleotide variant	NM_001394998.1(TANC2):c.4808C>G (p.Pro1603Arg)	Inborn genetic diseases [RCV004969289]	uncertain significance	17	63420538	63420538	Human	1	name
597657826	CV3731721	single nucleotide variant	NM_001394998.1(TANC2):c.6149A>G (p.Gln2050Arg)	not provided [RCV005001902]	uncertain significance	17	63421879	63421879	Human		name
597832968	CV3734833	single nucleotide variant	NM_001394998.1(TANC2):c.4412C>T (p.Pro1471Leu)	not provided [RCV005054566]	uncertain significance	17	63420142	63420142	Human		name
597833275	CV3735532	single nucleotide variant	NM_001394998.1(TANC2):c.5455C>G (p.Leu1819Val)	not provided [RCV005063394]	uncertain significance	17	63421185	63421185	Human		name
597886634	CV3854987	single nucleotide variant	NM_001394998.1(TANC2):c.3839C>G (p.Ala1280Gly)	not provided [RCV005199833]	uncertain significance	17	63412071	63412071	Human		name
598125576	CV3885807	single nucleotide variant	NM_001394998.1(TANC2):c.5699A>T (p.Tyr1900Phe)	Abnormality of the musculoskeletal system [RCV005241611]	uncertain significance	17	63421429	63421429	Human	2	name
598232695	CV3886459	single nucleotide variant	NM_001394998.1(TANC2):c.5867C>G (p.Ser1956Cys)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV005255903]	uncertain significance	17	63421597	63421597	Human	1	name
598199139	CV3892520	single nucleotide variant	NM_001394998.1(TANC2):c.5368C>T (p.Arg1790Ter)	not provided [RCV005254353]	likely pathogenic	17	63421098	63421098	Human		name
598201441	CV3892788	single nucleotide variant	NM_001394998.1(TANC2):c.5044G>A (p.Val1682Ile)	not provided [RCV005254621]	uncertain significance	17	63420774	63420774	Human		name
598227661	CV3894534	single nucleotide variant	NM_001394998.1(TANC2):c.3416G>T (p.Arg1139Leu)	not provided [RCV005257777]	uncertain significance	17	63405206	63405206	Human		name
598243024	CV3894731	single nucleotide variant	NM_001394998.1(TANC2):c.3289C>T (p.Arg1097Ter)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV005257937]	likely pathogenic	17	63398872	63398872	Human	1	name
598159224	CV3897046	single nucleotide variant	NM_001394998.1(TANC2):c.5609G>A (p.Ser1870Asn)	not provided [RCV005368020]	uncertain significance	17	63421339	63421339	Human		name
598182777	CV3920063	single nucleotide variant	NM_001394998.1(TANC2):c.4613A>T (p.Tyr1538Phe)	Inborn genetic diseases [RCV005286997]	uncertain significance	17	63420343	63420343	Human	1	name
598182781	CV3920064	single nucleotide variant	NM_001394998.1(TANC2):c.6184C>G (p.Pro2062Ala)	Inborn genetic diseases [RCV005286998]	uncertain significance	17	63421914	63421914	Human	1	name
598194102	CV3920067	single nucleotide variant	NM_001394998.1(TANC2):c.4342C>T (p.Leu1448Phe)	Inborn genetic diseases [RCV005289023]	uncertain significance	17	63420072	63420072	Human	1	name
598264866	CV3920069	single nucleotide variant	NM_001394998.1(TANC2):c.5270C>T (p.Pro1757Leu)	Inborn genetic diseases [RCV005280856]	uncertain significance	17	63421000	63421000	Human	1	name
598194118	CV3920071	single nucleotide variant	NM_001394998.1(TANC2):c.4429G>C (p.Glu1477Gln)	Inborn genetic diseases [RCV005289026]	uncertain significance	17	63420159	63420159	Human	1	name
616933906	CV4011878	single nucleotide variant	NM_001394998.1(TANC2):c.5806A>G (p.Thr1936Ala)	not specified [RCV005408427]	uncertain significance	17	63421536	63421536	Human		name
616937766	CV4014825	single nucleotide variant	NM_001394998.1(TANC2):c.4006G>C (p.Asp1336His)	not provided [RCV005411841]	uncertain significance	17	63413620	63413620	Human		name
616939266	CV4015596	single nucleotide variant	NM_001394998.1(TANC2):c.4729C>T (p.His1577Tyr)	not provided [RCV005413108]	uncertain significance	17	63420459	63420459	Human		name
616939293	CV4015624	single nucleotide variant	NM_001394998.1(TANC2):c.5600C>T (p.Ser1867Phe)	not provided [RCV005413136]	uncertain significance	17	63421330	63421330	Human		name
616936096	CV4016001	single nucleotide variant	NM_001394998.1(TANC2):c.5527C>T (p.Pro1843Ser)	not provided [RCV005414865]	uncertain significance	17	63421257	63421257	Human		name
617154573	CV4022310	single nucleotide variant	NM_001394998.1(TANC2):c.2999C>T (p.Ala1000Val)	not provided [RCV005429666]	uncertain significance	17	63389492	63389492	Human		name
617154399	CV4022573	single nucleotide variant	NM_001394998.1(TANC2):c.4337A>G (p.Gln1446Arg)	not provided [RCV005429930]	uncertain significance	17	63420067	63420067	Human		name
13798403	CV551322	single nucleotide variant	NM_001394998.1(TANC2):c.3689G>T (p.Gly1230Val)	not provided [RCV000678329]	uncertain significance	17	63411610	63411610	Human		name
13798405	CV551323	single nucleotide variant	NM_001394998.1(TANC2):c.5597T>G (p.Phe1866Cys)	not provided [RCV000678330]	uncertain significance	17	63421327	63421327	Human		name
34890307	CV916784	single nucleotide variant	NM_001394998.1(TANC2):c.4699C>T (p.Gln1567Ter)	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES [RCV001181999]\|Neurodevelopmental disorder [RCV001261840]	pathogenic\|likely pathogenic	17	63420429	63420429	Human	2	name
34890314	CV916787	single nucleotide variant	NM_001394998.1(TANC2):c.3418C>T (p.Arg1140Ter)	Autism spectrum disorder [RCV001261835]\|INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES [RCV001182003]	pathogenic\|likely pathogenic	17	63405208	63405208	Human	3	name
39457085	CV965744	single nucleotide variant	NM_001394998.1(TANC2):c.3619G>T (p.Gly1207Ter)	Intellectual disability [RCV001255337]	pathogenic	17	63411540	63411540	Human	2	name
39456948	CV966301	single nucleotide variant	NM_001394998.1(TANC2):c.3453G>C (p.Gln1151His)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004799403]	uncertain significance	17	63405243	63405243	Human	1	name
40815000	CV970339	single nucleotide variant	NM_001394998.1(TANC2):c.3104G>A (p.Arg1035Gln)	Autism spectrum disorder [RCV001261691]	uncertain significance	17	63395795	63395795	Human	2	name
40815166	CV970341	single nucleotide variant	NM_001394998.1(TANC2):c.4450C>T (p.Gln1484Ter)	Intellectual Disability with multiple congenital anomalies [RCV001261838]	likely pathogenic	17	63420180	63420180	Human		name
40815001	CV970343	single nucleotide variant	NM_001394998.1(TANC2):c.5318A>G (p.His1773Arg)	Autism spectrum disorder [RCV001261692]	uncertain significance	17	63421048	63421048	Human	2	name
40886650	CV974081	single nucleotide variant	NM_001394998.1(TANC2):c.5755A>G (p.Ser1919Gly)	Inborn genetic diseases [RCV001265841]	uncertain significance	17	63421485	63421485	Human	1	name
40886623	CV974082	single nucleotide variant	NM_001394998.1(TANC2):c.6029T>C (p.Leu2010Pro)	Inborn genetic diseases [RCV001265800]	uncertain significance	17	63421759	63421759	Human	1	name
150547488	CV1316050	duplication	NM_001394998.1(TANC2):c.1048_1060dup (p.Leu354fs)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV001785326]	pathogenic	17	63267759	63267760	Human	1	name
151662826	CV1333470	duplication	NM_001394998.1(TANC2):c.2662_2665dup (p.His889fs)	not provided [RCV001837662]	likely pathogenic	17	63379796	63379797	Human		name
329846636	CV2534123	microsatellite	NM_001394998.1(TANC2):c.3861TGT[2] (p.Val1290del)	not provided [RCV003228330]	uncertain significance	17	63412093	63412095	Human		name
405003974	CV3184522	microsatellite	NM_001394998.1(TANC2):c.1123_1124del (p.Ser375fs)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV003883311]\|Intellectual disability [RCV004798984]	likely pathogenic	17	63267835	63267836	Human		name
405267865	CV3189573	microsatellite	NM_001394998.1(TANC2):c.4129CTC[2] (p.Leu1379del)	TANC2-related disorder [RCV003898966]	uncertain significance	17	63415636	63415638	Human		name , trait , alternate_id
40815171	CV970336	microsatellite	NM_001394998.1(TANC2):c.2571_2572dup (p.Cys858fs)	Developmental delay [RCV001261845]	likely pathogenic	17	63355375	63355376	Human		name
405763549	CV3327800	deletion	NM_001394998.1(TANC2):c.5738_5742del (p.Thr1913fs)	Inborn genetic diseases [RCV004469044]	likely pathogenic\|uncertain significance	17	63421465	63421469	Human	1	name
596921827	CV3535453	duplication	NM_001394998.1(TANC2):c.6044_6054dup (p.Leu2019fs)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004785008]	uncertain significance	17	63421770	63421771	Human	1	name
40814992	CV970342	microsatellite	NM_001394998.1(TANC2):c.4965_4968del (p.Gln1656fs)	Neurodevelopmental disorder [RCV001261687]	likely pathogenic	17	63420690	63420693	Human		name
153349200	CV1694054	deletion	NM_001394998.1(TANC2):c.5247_5249del (p.Gly1750del)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV002275592]	uncertain significance	17	63420975	63420977	Human	1	name
596927516	CV3536735	deletion	NM_001394998.1(TANC2):c.179_184del (p.Asp60_Tyr61del)	Intellectual developmental disorder with autistic features and language delay, with or without seizures [RCV004790145]	uncertain significance	17	63099213	63099218	Human	1	name
156148141	CV2394470	microsatellite	NM_001394998.1(TANC2):c.4379AGCAGCCAC[1] (p.1460QQP[1])	Inborn genetic diseases [RCV002763950]	uncertain significance	17	63420108	63420116	Human		name
616938937	CV4015264	indel	NM_001394998.1(TANC2):c.3967_3968delinsGA (p.Ile1323Asp)	not provided [RCV005412773]	uncertain significance	17	63413581	63413582	Human		name
329352072	CV2476698	deletion	NM_001394998.1(TANC2):c.4400_4408del (p.Pro1467_Pro1469del)	TANC2-related disorder [RCV003906675]\|not provided [RCV003222930]	benign\|likely benign	17	63420122	63420130	Human	1	name , trait , alternate_id
598123139	CV3890215	deletion	NM_001394998.1(TANC2):c.5727_5732del (p.Val1910_Ser1911del)	not provided [RCV005250734]	uncertain significance	17	63421456	63421461	Human		name
40815168	CV970344	duplication	NM_001394998.1(TANC2):c.5571_5596dup (p.Phe1866delinsCysIleProLysValTer)	Developmental delay [RCV001261842]	likely pathogenic	17	63421297	63421298	Human	2	name
38597612	CV965336	indel	NM_001394998.1(TANC2):c.3528_3536delinsAGCAGGGCCGCAGACAAGCAGGGCCGCAAGCAGACAA (p.Pro1177fs)	not provided [RCV001254803]	likely pathogenic	17	63406216	63406224	Human		name

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