Hhat Variant Search Result - Rat Genome Database

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186 records found for search term Hhat

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
329388954	CV2448534	single nucleotide variant	NM_018194.6(HHAT):c.-77C>G	not specified [RCV004259217]	uncertain significance	1	210329071	210329071	Human		name
405258124	CV3208208	single nucleotide variant	NM_018194.6(HHAT):c.-57G>C	HHAT-related disorder [RCV003941646]	likely benign	1	210329091	210329091	Human		name , trait , alternate_id
405777223	CV3270082	single nucleotide variant	NM_018194.6(HHAT):c.-97G>A	not specified [RCV004396999]	uncertain significance	1	210329051	210329051	Human		name
408367332	CV3510514	single nucleotide variant	NM_018194.6(HHAT):c.-87C>T	HHAT-related disorder [RCV004758381]	likely benign	1	210329061	210329061	Human		name , trait , alternate_id
597761596	CV3685757	single nucleotide variant	NM_018194.6(HHAT):c.-94C>A	not specified [RCV004925942]	uncertain significance	1	210329054	210329054	Human		name
597761601	CV3685758	single nucleotide variant	NM_018194.6(HHAT):c.-74T>C	not specified [RCV004925943]	uncertain significance	1	210329074	210329074	Human		name
152051452	CV1523455	duplication	NM_018194.6(HHAT):c.92-7dup	not provided [RCV002127299]	benign	1	210362834	210362835	Human		name
156258792	CV2304888	single nucleotide variant	NM_018194.6(HHAT):c.-109G>C	not specified [RCV004168808]	uncertain significance	1	210329039	210329039	Human		name
598247891	CV3978746	single nucleotide variant	NM_018194.6(HHAT):c.-125C>G	not specified [RCV005345366]	uncertain significance	1	210329023	210329023	Human		name
15198139	CV729959	single nucleotide variant	NM_018194.6(HHAT):c.92-5G>T	not provided [RCV000890266]	likely benign	1	210362847	210362847	Human		name
15170733	CV778810	single nucleotide variant	NM_018194.6(HHAT):c.92-6G>T	not provided [RCV000972067]	likely benign	1	210362846	210362846	Human		name
152074578	CV1630234	single nucleotide variant	NM_018194.6(HHAT):c.91+20A>G	not provided [RCV002169733]	likely benign	1	210349086	210349086	Human		name
405069193	CV2875719	single nucleotide variant	NM_018194.6(HHAT):c.159+5A>C	not provided [RCV003548401]	likely benign	1	210362924	210362924	Human		name
15098994	CV729960	single nucleotide variant	NM_018194.6(HHAT):c.684+9C>T	not provided [RCV000891859]	benign	1	210404688	210404688	Human		name
15195198	CV777063	single nucleotide variant	NM_018194.6(HHAT):c.684+6G>C	not provided [RCV000955856]	benign	1	210404685	210404685	Human		name
152123197	CV1587207	single nucleotide variant	NM_018194.6(HHAT):c.1007+8G>T	not provided [RCV002135975]	likely benign	1	210464663	210464663	Human		name
152120893	CV1662092	single nucleotide variant	NM_018194.6(HHAT):c.159+15C>A	not provided [RCV002117838]	benign	1	210362934	210362934	Human		name
405148827	CV3020405	duplication	NM_018194.6(HHAT):c.1246-5dup	not provided [RCV003703140]	likely benign	1	210623518	210623519	Human		name
597904398	CV3784650	single nucleotide variant	NM_018194.6(HHAT):c.856+10G>A	not provided [RCV005127701]	benign	1	210418335	210418335	Human		name
597879761	CV3810175	single nucleotide variant	NM_018194.6(HHAT):c.1007+7C>T	not provided [RCV005149637]	likely benign	1	210464662	210464662	Human		name
152067464	CV1647183	single nucleotide variant	NM_018194.6(HHAT):c.1245+19G>C	not provided [RCV002129163]	benign	1	210588118	210588118	Human		name
156207179	CV2040281	single nucleotide variant	NM_018194.6(HHAT):c.1391-12C>T	not provided [RCV002790100]	likely benign	1	210674276	210674276	Human		name
597875796	CV3775878	single nucleotide variant	NM_018194.6(HHAT):c.1246-20T>G	not provided [RCV005123405]	likely benign	1	210623506	210623506	Human		name
597916411	CV3814692	single nucleotide variant	NM_018194.6(HHAT):c.1008-10T>C	not provided [RCV005155007]	likely benign	1	210513143	210513143	Human		name
8575534	CV109882	single nucleotide variant	NM_001122834.3(HHAT):c.159+4311A>C	Lung cancer [RCV000090407]	uncertain significance	1	210367230	210367230	Human		name
8575535	CV109883	single nucleotide variant	NM_001122834.3(HHAT):c.1008-3418A>G	Lung cancer [RCV000090408]	uncertain significance	1	210509735	210509735	Human		name
126922226	CV1039758	single nucleotide variant	NM_018194.6(HHAT):c.3G>A (p.Met1Ile)	not provided [RCV001364419]	uncertain significance	1	210348978	210348978	Human		name
8575536	CV109884	single nucleotide variant	NM_001122834.3(HHAT):c.1044-17031G>A	Lung cancer [RCV000090409]	uncertain significance	1	210570867	210570867	Human		name
405167551	CV3070966	single nucleotide variant	NM_018194.6(HHAT):c.51C>T (p.Phe17=)	not provided [RCV003727566]	likely benign	1	210349026	210349026	Human		name
13592886	CV511214	single nucleotide variant	NM_018194.6(HHAT):c.1A>T (p.Met1Leu)	Inborn genetic diseases [RCV000624001]	likely pathogenic	1	210348976	210348976	Human	1	name
156235599	CV2036479	single nucleotide variant	NM_018194.6(HHAT):c.168C>T (p.Thr56=)	not provided [RCV002805484]	likely benign	1	210387476	210387476	Human		name
15158170	CV718596	single nucleotide variant	NM_018194.6(HHAT):c.267A>G (p.Ala89=)	not provided [RCV000880957]	benign	1	210387575	210387575	Human		name
15183255	CV732075	single nucleotide variant	NM_018194.6(HHAT):c.165G>A (p.Ala55=)	not provided [RCV000908019]	likely benign	1	210387473	210387473	Human		name
150489588	CV1250882	single nucleotide variant	NM_018194.6(HHAT):c.534G>C (p.Leu178=)	not provided [RCV001674549]	benign	1	210404529	210404529	Human		name
152064699	CV1583230	single nucleotide variant	NM_018194.6(HHAT):c.699G>A (p.Glu233=)	not provided [RCV002110611]	benign	1	210418168	210418168	Human		name
152152083	CV1626763	single nucleotide variant	NM_018194.6(HHAT):c.492C>T (p.Asn164=)	not provided [RCV002202125]	benign	1	210404487	210404487	Human		name
156155977	CV1987765	single nucleotide variant	NM_018194.6(HHAT):c.669G>A (p.Ser223=)	not provided [RCV002642233]	likely benign	1	210404664	210404664	Human		name
405251324	CV3053254	single nucleotide variant	NM_018194.6(HHAT):c.543C>A (p.Thr181=)	not provided [RCV003721778]	benign	1	210404538	210404538	Human		name
15195194	CV696432	single nucleotide variant	NM_018194.6(HHAT):c.68A>G (p.Tyr23Cys)	HHAT-related disorder [RCV003915883]\|not provided [RCV000955855]	likely benign	1	210349043	210349043	Human	1	name , trait , alternate_id
15162778	CV732077	single nucleotide variant	NM_018194.6(HHAT):c.957C>T (p.Pro319=)	not provided [RCV000903629]	benign	1	210464605	210464605	Human		name
15178768	CV732078	single nucleotide variant	NM_018194.6(HHAT):c.996C>T (p.Thr332=)	not provided [RCV000906951]	likely benign	1	210464644	210464644	Human		name
15134724	CV746056	single nucleotide variant	NM_018194.6(HHAT):c.741G>A (p.Gly247=)	not provided [RCV000920735]	likely benign	1	210418210	210418210	Human		name
15195882	CV761534	single nucleotide variant	NM_018194.6(HHAT):c.774C>T (p.Ala258=)	not provided [RCV000934064]	likely benign	1	210418243	210418243	Human		name
151759210	CV1343043	single nucleotide variant	NM_018194.6(HHAT):c.1104G>A (p.Thr368=)	not provided [RCV002024168]	likely benign\|uncertain significance	1	210587958	210587958	Human		name
151852872	CV1376170	single nucleotide variant	NM_018194.6(HHAT):c.145G>A (p.Gly49Arg)	not provided [RCV001996186]	uncertain significance	1	210362905	210362905	Human		name
152096294	CV1586858	single nucleotide variant	NM_018194.6(HHAT):c.1180C>T (p.Leu394=)	not provided [RCV002078395]	benign\|likely benign	1	210588034	210588034	Human		name
152138720	CV1645345	single nucleotide variant	NM_018194.6(HHAT):c.1065C>T (p.Gly355=)	not provided [RCV002137899]	likely benign	1	210587919	210587919	Human		name
156175997	CV1891700	single nucleotide variant	NM_018194.6(HHAT):c.1470C>T (p.Tyr490=)	not provided [RCV003083396]	likely benign	1	210674367	210674367	Human		name
156260640	CV1906519	single nucleotide variant	NM_018194.6(HHAT):c.1311G>A (p.Ser437=)	HHAT-related disorder [RCV003906498]\|not provided [RCV003086426]	likely benign	1	210623591	210623591	Human	1	name , trait , alternate_id
155903052	CV2386418	single nucleotide variant	NM_018194.6(HHAT):c.164C>T (p.Ala55Val)	not specified [RCV004228745]	uncertain significance	1	210387472	210387472	Human		name
156003424	CV2400882	single nucleotide variant	NM_018194.6(HHAT):c.167C>A (p.Thr56Asn)	not specified [RCV004244174]	uncertain significance	1	210387475	210387475	Human		name
402486365	CV3171439	single nucleotide variant	NM_018194.6(HHAT):c.1107G>A (p.Ala369=)	not provided [RCV003876466]	likely benign	1	210587961	210587961	Human		name
405292569	CV3192499	single nucleotide variant	NM_018194.6(HHAT):c.1284C>T (p.His428=)	HHAT-related disorder [RCV003929756]	likely benign	1	210623564	210623564	Human		name , trait , alternate_id
407521942	CV3437255	single nucleotide variant	NM_018194.6(HHAT):c.256A>C (p.Thr86Pro)	not specified [RCV004630563]	uncertain significance	1	210387564	210387564	Human		name
597761622	CV3685763	single nucleotide variant	NM_018194.6(HHAT):c.295C>G (p.Leu99Val)	not specified [RCV004925948]	uncertain significance	1	210400489	210400489	Human		name
597761627	CV3685764	single nucleotide variant	NM_018194.6(HHAT):c.136A>G (p.Thr46Ala)	not specified [RCV004925949]	uncertain significance	1	210362896	210362896	Human		name
597832164	CV3864058	single nucleotide variant	NM_018194.6(HHAT):c.218G>A (p.Trp73Ter)	Chondrodysplasia-pseudohermaphroditism syndrome [RCV005208523]	likely pathogenic	1	210387526	210387526	Human	1	name
597832166	CV3864059	single nucleotide variant	NM_018194.6(HHAT):c.176A>G (p.Glu59Gly)	Chondrodysplasia-pseudohermaphroditism syndrome [RCV005208524]	uncertain significance	1	210387484	210387484	Human	1	name
598177492	CV3978747	single nucleotide variant	NM_018194.6(HHAT):c.203A>G (p.Lys68Arg)	not specified [RCV005351843]	uncertain significance	1	210387511	210387511	Human		name
15164042	CV696433	single nucleotide variant	NM_018194.6(HHAT):c.1146C>T (p.Tyr382=)	HHAT-related disorder [RCV003913242]\|not provided [RCV000948240]	benign\|likely benign	1	210588000	210588000	Human	1	name , trait , alternate_id
15158010	CV707062	single nucleotide variant	NM_018194.6(HHAT):c.1167A>G (p.Ala389=)	HHAT-related disorder [RCV003918409]\|not provided [RCV000969423]	benign	1	210588021	210588021	Human	1	name , trait , alternate_id
15193971	CV718598	single nucleotide variant	NM_018194.6(HHAT):c.1311G>C (p.Ser437=)	not provided [RCV000889091]	likely benign	1	210623591	210623591	Human		name
151786260	CV1456238	single nucleotide variant	NM_018194.6(HHAT):c.335C>T (p.Pro112Leu)	not provided [RCV002046639]	uncertain significance	1	210400529	210400529	Human		name
151864676	CV1478819	single nucleotide variant	NM_018194.6(HHAT):c.587C>T (p.Ser196Leu)	not provided [RCV002018190]	uncertain significance	1	210404582	210404582	Human		name
151734546	CV1501212	single nucleotide variant	NM_018194.6(HHAT):c.791T>C (p.Leu264Pro)	not provided [RCV002005135]	uncertain significance	1	210418260	210418260	Human		name
152159328	CV1605737	single nucleotide variant	NM_018194.6(HHAT):c.545G>A (p.Ser182Asn)	Thalidomide response [RCV005414341]\|not provided [RCV002103491]	benign\|drug response	1	210404540	210404540	Human		name
152155742	CV1629597	single nucleotide variant	NM_018194.6(HHAT):c.562T>C (p.Cys188Arg)	not provided [RCV002202619]	benign	1	210404557	210404557	Human		name
156354449	CV1880095	single nucleotide variant	NM_018194.6(HHAT):c.789C>A (p.His263Gln)	HHAT-related disorder [RCV003936518]\|not provided [RCV003065120]	likely benign	1	210418258	210418258	Human	1	name , trait , alternate_id
156143722	CV2002881	single nucleotide variant	NM_018194.6(HHAT):c.527G>A (p.Arg176His)	not provided [RCV002663662]	uncertain significance	1	210404522	210404522	Human		name
155958538	CV2135364	single nucleotide variant	NM_018194.6(HHAT):c.664T>C (p.Phe222Leu)	not provided [RCV002995032]	uncertain significance	1	210404659	210404659	Human		name
156342783	CV2222472	single nucleotide variant	NM_018194.6(HHAT):c.649G>A (p.Gly217Arg)	not specified [RCV004099323]	uncertain significance	1	210404644	210404644	Human		name
156004028	CV2290098	single nucleotide variant	NM_018194.6(HHAT):c.454G>A (p.Val152Met)	not specified [RCV004152775]	uncertain significance	1	210400648	210400648	Human		name
156363641	CV2329962	single nucleotide variant	NM_018194.6(HHAT):c.967C>T (p.Arg323Cys)	not specified [RCV004183415]	uncertain significance	1	210464615	210464615	Human		name
156009826	CV2362043	single nucleotide variant	NM_018194.6(HHAT):c.934C>T (p.Arg312Cys)	not specified [RCV004209854]	uncertain significance	1	210464582	210464582	Human		name
329392427	CV2468089	single nucleotide variant	NM_018194.6(HHAT):c.344C>A (p.Ala115Asp)	not specified [RCV004275695]	uncertain significance	1	210400538	210400538	Human		name
401758089	CV2704165	single nucleotide variant	NM_018194.6(HHAT):c.463G>A (p.Val155Ile)	not specified [RCV004311178]	uncertain significance	1	210400657	210400657	Human		name
401881016	CV2763212	single nucleotide variant	NM_018194.6(HHAT):c.386A>G (p.Gln129Arg)	not specified [RCV004336248]	uncertain significance	1	210400580	210400580	Human		name
401890633	CV2778264	single nucleotide variant	NM_018194.6(HHAT):c.626T>A (p.Phe209Tyr)	not specified [RCV004350324]	uncertain significance	1	210404621	210404621	Human		name
405204031	CV3116822	single nucleotide variant	NM_018194.6(HHAT):c.922G>A (p.Ala308Thr)	not provided [RCV003822306]\|not specified [RCV004366752]	uncertain significance	1	210464570	210464570	Human		name
405777209	CV3270080	single nucleotide variant	NM_018194.6(HHAT):c.391C>T (p.Arg131Trp)	not specified [RCV004396997]	uncertain significance	1	210400585	210400585	Human		name
405777216	CV3270081	single nucleotide variant	NM_018194.6(HHAT):c.407C>T (p.Thr136Met)	not specified [RCV004396998]	uncertain significance	1	210400601	210400601	Human		name
405777229	CV3270083	single nucleotide variant	NM_018194.6(HHAT):c.421C>G (p.Leu141Val)	not specified [RCV004397000]	uncertain significance	1	210400615	210400615	Human		name
405777235	CV3270084	single nucleotide variant	NM_018194.6(HHAT):c.470G>C (p.Arg157Thr)	not specified [RCV004397001]	uncertain significance	1	210404465	210404465	Human		name
405777241	CV3270085	single nucleotide variant	NM_018194.6(HHAT):c.542C>G (p.Thr181Ser)	not specified [RCV004397002]	uncertain significance	1	210404537	210404537	Human		name
405777396	CV3270086	single nucleotide variant	NM_018194.6(HHAT):c.578C>G (p.Pro193Arg)	not specified [RCV004397003]	uncertain significance	1	210404573	210404573	Human		name
405777408	CV3270088	single nucleotide variant	NM_018194.6(HHAT):c.775G>A (p.Glu259Lys)	not specified [RCV004397005]	uncertain significance	1	210418244	210418244	Human		name
405777415	CV3270089	single nucleotide variant	NM_018194.6(HHAT):c.916G>A (p.Val306Met)	not specified [RCV004397006]	uncertain significance	1	210464564	210464564	Human		name
405777419	CV3270090	single nucleotide variant	NM_018194.6(HHAT):c.932T>C (p.Met311Thr)	not specified [RCV004397007]	uncertain significance	1	210464580	210464580	Human		name
407521931	CV3437251	single nucleotide variant	NM_018194.6(HHAT):c.965C>T (p.Pro322Leu)	not specified [RCV004630559]	uncertain significance	1	210464613	210464613	Human		name
407521937	CV3437253	single nucleotide variant	NM_018194.6(HHAT):c.320G>T (p.Cys107Phe)	not specified [RCV004630561]	uncertain significance	1	210400514	210400514	Human		name
407521954	CV3437259	single nucleotide variant	NM_018194.6(HHAT):c.989G>C (p.Ser330Thr)	not specified [RCV004630567]	uncertain significance	1	210464637	210464637	Human		name
407521961	CV3437261	single nucleotide variant	NM_018194.6(HHAT):c.628T>C (p.Tyr210His)	not specified [RCV004630569]	uncertain significance	1	210404623	210404623	Human		name
597761585	CV3685754	single nucleotide variant	NM_018194.6(HHAT):c.761G>C (p.Trp254Ser)	not specified [RCV004925939]	uncertain significance	1	210418230	210418230	Human		name
597761589	CV3685755	single nucleotide variant	NM_018194.6(HHAT):c.724T>G (p.Cys242Gly)	not specified [RCV004925940]	uncertain significance	1	210418193	210418193	Human		name
597761611	CV3685760	single nucleotide variant	NM_018194.6(HHAT):c.977G>T (p.Ser326Ile)	not specified [RCV004925945]	uncertain significance	1	210464625	210464625	Human		name
597761616	CV3685761	single nucleotide variant	NM_018194.6(HHAT):c.942T>A (p.Asp314Glu)	not specified [RCV004925946]	uncertain significance	1	210464590	210464590	Human		name
597966304	CV3751547	single nucleotide variant	NM_018194.6(HHAT):c.653C>T (p.Pro218Leu)	not provided [RCV005082916]	uncertain significance	1	210404648	210404648	Human		name
597832167	CV3864060	single nucleotide variant	NM_018194.6(HHAT):c.972C>G (p.Cys324Trp)	Chondrodysplasia-pseudohermaphroditism syndrome [RCV005208525]	uncertain significance	1	210464620	210464620	Human	1	name
15175684	CV707060	single nucleotide variant	NM_018194.6(HHAT):c.997G>A (p.Gly333Arg)	Chondrodysplasia-pseudohermaphroditism syndrome [RCV002505480]\|HHAT-related disorder [RCV003936156]\|not provided [RCV000973009]	benign\|likely benign	1	210464645	210464645	Human	1	name , trait , alternate_id
15112206	CV718597	single nucleotide variant	NM_018194.6(HHAT):c.935G>A (p.Arg312His)	HHAT-related disorder [RCV003958007]\|not provided [RCV000894422]	benign	1	210464583	210464583	Human	1	name , trait , alternate_id
15160979	CV732076	single nucleotide variant	NM_018194.6(HHAT):c.526C>T (p.Arg176Cys)	HHAT-related disorder [RCV003958174]\|not provided [RCV000903255]	benign	1	210404521	210404521	Human	1	name , trait , alternate_id
40903335	CV975899	single nucleotide variant	NM_018194.6(HHAT):c.860G>T (p.Gly287Val)	Chondrodysplasia-pseudohermaphroditism syndrome [RCV001269340]	pathogenic	1	210464508	210464508	Human	1	name
40903336	CV975900	single nucleotide variant	NM_018194.6(HHAT):c.770T>C (p.Leu257Pro)	Chondrodysplasia-pseudohermaphroditism syndrome [RCV001269341]	pathogenic	1	210418239	210418239	Human	1	name
127260814	CV1058549	single nucleotide variant	NM_018194.6(HHAT):c.1134G>A (p.Trp378Ter)	not provided [RCV001387426]	pathogenic	1	210587988	210587988	Human		name
150547092	CV1291871	single nucleotide variant	NM_018194.6(HHAT):c.1436A>G (p.Tyr479Cys)	not specified [RCV001733549]	uncertain significance	1	210674333	210674333	Human		name
151862056	CV1420118	single nucleotide variant	NM_018194.6(HHAT):c.1027C>T (p.His343Tyr)	not provided [RCV001980245]	uncertain significance	1	210513172	210513172	Human		name
155797880	CV1860541	single nucleotide variant	NM_018194.6(HHAT):c.1201G>A (p.Gly401Arg)	not provided [RCV002467183]	uncertain significance	1	210588055	210588055	Human		name
156283840	CV1896974	single nucleotide variant	NM_018194.6(HHAT):c.1250G>A (p.Arg417Gln)	not provided [RCV003087213]\|not specified [RCV004634176]	likely benign\|uncertain significance	1	210623530	210623530	Human		name
156250904	CV2286770	single nucleotide variant	NM_018194.6(HHAT):c.1148A>G (p.Asp383Gly)	not specified [RCV004142580]	uncertain significance	1	210588002	210588002	Human		name
156191476	CV2339819	single nucleotide variant	NM_018194.6(HHAT):c.1207C>T (p.Arg403Trp)	not provided [RCV004598248]\|not specified [RCV004196509]	uncertain significance	1	210588061	210588061	Human		name
156308581	CV2341617	single nucleotide variant	NM_018194.6(HHAT):c.1169C>T (p.Ala390Val)	not specified [RCV004182545]	uncertain significance	1	210588023	210588023	Human		name
156391689	CV2382498	single nucleotide variant	NM_018194.6(HHAT):c.1103C>T (p.Thr368Met)	not specified [RCV004232837]	uncertain significance	1	210587957	210587957	Human		name
329377853	CV2436056	single nucleotide variant	NM_018194.6(HHAT):c.1063G>A (p.Gly355Ser)	not specified [RCV004255274]	uncertain significance	1	210587917	210587917	Human		name
329372648	CV2451590	single nucleotide variant	NM_018194.6(HHAT):c.1325C>A (p.Ser442Tyr)	not specified [RCV004274521]	uncertain significance	1	210623605	210623605	Human		name
401892751	CV2761961	single nucleotide variant	NM_018194.6(HHAT):c.1098T>G (p.Phe366Leu)	not specified [RCV004339584]	uncertain significance	1	210587952	210587952	Human		name
405874753	CV2842194	single nucleotide variant	NM_018194.6(HHAT):c.1270C>T (p.Arg424Cys)	See cases [RCV004579614]	uncertain significance	1	210623550	210623550	Human		name
405777203	CV3270079	single nucleotide variant	NM_018194.6(HHAT):c.1475C>T (p.Thr492Met)	not specified [RCV004396996]	likely benign	1	210674372	210674372	Human		name
407521934	CV3437252	single nucleotide variant	NM_018194.6(HHAT):c.1274G>A (p.Arg425His)	not specified [RCV004630560]	likely benign	1	210623554	210623554	Human		name
407521945	CV3437256	single nucleotide variant	NM_018194.6(HHAT):c.1208G>A (p.Arg403Gln)	not specified [RCV004630564]	likely benign	1	210588062	210588062	Human		name
407521948	CV3437257	single nucleotide variant	NM_018194.6(HHAT):c.1477G>A (p.Asp493Asn)	not specified [RCV004630565]	likely benign	1	210674374	210674374	Human		name
407521951	CV3437258	single nucleotide variant	NM_018194.6(HHAT):c.1282C>T (p.His428Tyr)	not specified [RCV004630566]	uncertain significance	1	210623562	210623562	Human		name
407521957	CV3437260	single nucleotide variant	NM_018194.6(HHAT):c.1363A>G (p.Thr455Ala)	not specified [RCV004630568]	uncertain significance	1	210623643	210623643	Human		name
597761591	CV3685756	single nucleotide variant	NM_018194.6(HHAT):c.1265A>G (p.Gln422Arg)	not specified [RCV004925941]	uncertain significance	1	210623545	210623545	Human		name
597761606	CV3685759	single nucleotide variant	NM_018194.6(HHAT):c.1346G>A (p.Gly449Asp)	not specified [RCV004925944]	uncertain significance	1	210623626	210623626	Human		name
597761618	CV3685762	single nucleotide variant	NM_018194.6(HHAT):c.1396C>G (p.Pro466Ala)	not specified [RCV004925947]	uncertain significance	1	210674293	210674293	Human		name
597761632	CV3685765	single nucleotide variant	NM_018194.6(HHAT):c.1354G>A (p.Val452Ile)	not specified [RCV004925950]	uncertain significance	1	210623634	210623634	Human		name
597761637	CV3685766	single nucleotide variant	NM_018194.6(HHAT):c.1471G>A (p.Ala491Thr)	not specified [RCV004925951]	likely benign	1	210674368	210674368	Human		name
598177466	CV3978742	single nucleotide variant	NM_018194.6(HHAT):c.1271G>A (p.Arg424His)	not specified [RCV005351839]	uncertain significance	1	210623551	210623551	Human		name
598177473	CV3978743	single nucleotide variant	NM_018194.6(HHAT):c.1319T>G (p.Ile440Ser)	not specified [RCV005351840]	uncertain significance	1	210623599	210623599	Human		name
598177479	CV3978744	single nucleotide variant	NM_018194.6(HHAT):c.1465A>G (p.Thr489Ala)	not specified [RCV005351841]	uncertain significance	1	210674362	210674362	Human		name
598177486	CV3978745	single nucleotide variant	NM_018194.6(HHAT):c.1141G>A (p.Gly381Ser)	not specified [RCV005351842]	uncertain significance	1	210587995	210587995	Human		name
598177498	CV3978748	single nucleotide variant	NM_018194.6(HHAT):c.1262C>G (p.Pro421Arg)	not specified [RCV005351844]	uncertain significance	1	210623542	210623542	Human		name
617153089	CV4021062	single nucleotide variant	NM_018194.6(HHAT):c.1135C>T (p.His379Tyr)	not provided [RCV005428815]	uncertain significance	1	210587989	210587989	Human		name
15124466	CV707061	single nucleotide variant	NM_018194.6(HHAT):c.1112C>T (p.Thr371Ile)	HHAT-related disorder [RCV003978408]\|not provided [RCV000963421]	likely benign	1	210587966	210587966	Human	1	name , trait , alternate_id
15101807	CV718599	single nucleotide variant	NM_018194.6(HHAT):c.1457G>T (p.Trp486Leu)	not provided [RCV000892353]	likely benign	1	210674354	210674354	Human		name
15203237	CV746057	single nucleotide variant	NM_018194.6(HHAT):c.1349A>G (p.Asn450Ser)	not provided [RCV000913802]	likely benign	1	210623629	210623629	Human		name
126909753	CV1036907	microsatellite	NM_018194.6(HHAT):c.362CCA[1] (p.Thr122del)	Chondrodysplasia-pseudohermaphroditism syndrome [RCV001354048]	uncertain significance	1	210400555	210400557	Human		name
598212556	CV4009062	single nucleotide variant	NM_020707.4(HHATL):c.1240C>T (p.Arg414Ter)	HHATL-related disorder [RCV005400676]	uncertain significance	3	42693625	42693625	Human		name , trait
597761646	CV3685769	single nucleotide variant	NM_020707.4(HHATL):c.23C>T (p.Pro8Leu)	not specified [RCV004925953]	uncertain significance	3	42700804	42700804	Human		name
156183064	CV2198481	single nucleotide variant	NM_020707.4(HHATL):c.83G>A (p.Arg28Gln)	not specified [RCV004075517]	uncertain significance	3	42700744	42700744	Human		name
156202401	CV2392569	single nucleotide variant	NM_020707.4(HHATL):c.82C>T (p.Arg28Trp)	not specified [RCV004245433]	uncertain significance	3	42700745	42700745	Human		name
597761674	CV3685775	single nucleotide variant	NM_020707.4(HHATL):c.89T>A (p.Leu30His)	not specified [RCV004925959]	uncertain significance	3	42700738	42700738	Human		name
156003043	CV2258020	single nucleotide variant	NM_020707.4(HHATL):c.131G>A (p.Arg44Gln)	not specified [RCV004129820]	uncertain significance	3	42699801	42699801	Human		name
156265788	CV2329558	single nucleotide variant	NM_020707.4(HHATL):c.152G>T (p.Trp51Leu)	not specified [RCV004180685]	uncertain significance	3	42699780	42699780	Human		name
156203846	CV2331525	single nucleotide variant	NM_020707.4(HHATL):c.223G>A (p.Val75Ile)	not specified [RCV004182128]	uncertain significance	3	42699097	42699097	Human		name
156219187	CV2344860	single nucleotide variant	NM_020707.4(HHATL):c.218G>A (p.Arg73His)	not specified [RCV004191000]	uncertain significance	3	42699102	42699102	Human		name
407521973	CV3437265	single nucleotide variant	NM_020707.4(HHATL):c.293G>A (p.Arg98His)	not specified [RCV004630573]	uncertain significance	3	42698898	42698898	Human		name
597761641	CV3685768	single nucleotide variant	NM_020707.4(HHATL):c.146C>T (p.Pro49Leu)	not specified [RCV004925952]	uncertain significance	3	42699786	42699786	Human		name
597761659	CV3685772	single nucleotide variant	NM_020707.4(HHATL):c.292C>G (p.Arg98Gly)	not specified [RCV004925956]	uncertain significance	3	42698899	42698899	Human		name
598177504	CV3978752	single nucleotide variant	NM_020707.4(HHATL):c.280G>T (p.Ala94Ser)	not specified [RCV005351845]	uncertain significance	3	42699040	42699040	Human		name
156296732	CV2240780	single nucleotide variant	NM_020707.4(HHATL):c.316G>C (p.Gly106Arg)	not specified [RCV004102081]	uncertain significance	3	42698875	42698875	Human		name
156144618	CV2264991	single nucleotide variant	NM_020707.4(HHATL):c.945C>G (p.Cys315Trp)	not specified [RCV004126160]	uncertain significance	3	42697066	42697066	Human		name
155902799	CV2274762	single nucleotide variant	NM_020707.4(HHATL):c.647T>C (p.Phe216Ser)	not specified [RCV004139117]	uncertain significance	3	42698188	42698188	Human		name
156016744	CV2295406	single nucleotide variant	NM_020707.4(HHATL):c.528T>G (p.Phe176Leu)	not specified [RCV004158748]	uncertain significance	3	42698307	42698307	Human		name
155946050	CV2301464	single nucleotide variant	NM_020707.4(HHATL):c.538A>G (p.Ser180Gly)	not specified [RCV004162393]	uncertain significance	3	42698297	42698297	Human		name
156269966	CV2312085	single nucleotide variant	NM_020707.4(HHATL):c.499G>C (p.Gly167Arg)	not specified [RCV004165008]	uncertain significance	3	42698336	42698336	Human		name
156032940	CV2376542	single nucleotide variant	NM_020707.4(HHATL):c.400C>G (p.Leu134Val)	not specified [RCV004220711]	uncertain significance	3	42698791	42698791	Human		name
401737965	CV2676082	single nucleotide variant	NM_020707.4(HHATL):c.913G>A (p.Val305Ile)	not specified [RCV004284309]	uncertain significance	3	42697098	42697098	Human		name
401718591	CV2704683	single nucleotide variant	NM_020707.4(HHATL):c.685C>T (p.His229Tyr)	not specified [RCV004307291]	uncertain significance	3	42698150	42698150	Human		name
401926340	CV2827303	single nucleotide variant	NM_020707.4(HHATL):c.542G>T (p.Ser181Ile)	not provided [RCV003437782]	likely benign	3	42698293	42698293	Human		name
405777438	CV3270093	single nucleotide variant	NM_020707.4(HHATL):c.556C>T (p.Arg186Cys)	not specified [RCV004397010]	uncertain significance	3	42698279	42698279	Human		name
405777443	CV3270094	single nucleotide variant	NM_020707.4(HHATL):c.651C>A (p.Phe217Leu)	not specified [RCV004397011]	uncertain significance	3	42698184	42698184	Human		name
405777449	CV3270095	single nucleotide variant	NM_020707.4(HHATL):c.709C>A (p.Pro237Thr)	not specified [RCV004397012]	uncertain significance	3	42697664	42697664	Human		name
405777454	CV3270096	single nucleotide variant	NM_020707.4(HHATL):c.845G>A (p.Arg282His)	not specified [RCV004397013]	uncertain significance	3	42697528	42697528	Human		name
405777460	CV3270097	single nucleotide variant	NM_020707.4(HHATL):c.868G>T (p.Gly290Cys)	not specified [RCV004397014]	uncertain significance	3	42697143	42697143	Human		name
405777466	CV3270098	single nucleotide variant	NM_020707.4(HHATL):c.988G>A (p.Ala330Thr)	not specified [RCV004397015]	uncertain significance	3	42697023	42697023	Human		name
407521967	CV3437263	single nucleotide variant	NM_020707.4(HHATL):c.316G>A (p.Gly106Arg)	not specified [RCV004630571]	uncertain significance	3	42698875	42698875	Human		name
597761664	CV3685773	single nucleotide variant	NM_020707.4(HHATL):c.465C>A (p.Asp155Glu)	not specified [RCV004925957]	uncertain significance	3	42698726	42698726	Human		name
597761669	CV3685774	single nucleotide variant	NM_020707.4(HHATL):c.719G>A (p.Arg240His)	not specified [RCV004925958]	uncertain significance	3	42697654	42697654	Human		name
598247906	CV3978750	single nucleotide variant	NM_020707.4(HHATL):c.743G>A (p.Arg248Gln)	not specified [RCV005345368]	uncertain significance	3	42697630	42697630	Human		name
598177510	CV3978753	single nucleotide variant	NM_020707.4(HHATL):c.949G>A (p.Asp317Asn)	not specified [RCV005351846]	uncertain significance	3	42697062	42697062	Human		name
156231079	CV2199632	single nucleotide variant	NM_020707.4(HHATL):c.1067G>T (p.Gly356Val)	not specified [RCV004072376]	uncertain significance	3	42693798	42693798	Human		name
156178710	CV2201610	single nucleotide variant	NM_020707.4(HHATL):c.1439T>C (p.Val480Ala)	not specified [RCV004082076]	uncertain significance	3	42692827	42692827	Human		name
156179897	CV2331420	single nucleotide variant	NM_020707.4(HHATL):c.1150G>T (p.Asp384Tyr)	not specified [RCV004184055]	uncertain significance	3	42693715	42693715	Human		name
156180937	CV2353043	single nucleotide variant	NM_020707.4(HHATL):c.1457G>A (p.Arg486His)	not specified [RCV004203531]	uncertain significance	3	42692809	42692809	Human		name
156010205	CV2362092	single nucleotide variant	NM_020707.4(HHATL):c.1022G>A (p.Arg341His)	not specified [RCV004209899]	uncertain significance	3	42696866	42696866	Human		name
156178651	CV2374609	single nucleotide variant	NM_020707.4(HHATL):c.1373G>A (p.Arg458Gln)	not specified [RCV004225233]	uncertain significance	3	42693094	42693094	Human		name
401754976	CV2717600	single nucleotide variant	NM_020707.4(HHATL):c.1406C>T (p.Thr469Met)	not specified [RCV004330302]	uncertain significance	3	42692860	42692860	Human		name
405777425	CV3270091	single nucleotide variant	NM_020707.4(HHATL):c.1415T>C (p.Ile472Thr)	not specified [RCV004397008]	uncertain significance	3	42692851	42692851	Human		name
405777432	CV3270092	single nucleotide variant	NM_020707.4(HHATL):c.1477G>A (p.Glu493Lys)	not specified [RCV004397009]	uncertain significance	3	42692789	42692789	Human		name
407521964	CV3437262	single nucleotide variant	NM_020707.4(HHATL):c.1412C>T (p.Ser471Phe)	not specified [RCV004630570]	uncertain significance	3	42692854	42692854	Human		name
407521970	CV3437264	single nucleotide variant	NM_020707.4(HHATL):c.1250C>T (p.Ala417Val)	not specified [RCV004630572]	uncertain significance	3	42693217	42693217	Human		name
597761651	CV3685770	single nucleotide variant	NM_020707.4(HHATL):c.1055A>C (p.Tyr352Ser)	not specified [RCV004925954]	uncertain significance	3	42693810	42693810	Human		name
597761656	CV3685771	single nucleotide variant	NM_020707.4(HHATL):c.1153A>G (p.Ile385Val)	not specified [RCV004925955]	uncertain significance	3	42693712	42693712	Human		name
598247899	CV3978749	single nucleotide variant	NM_020707.4(HHATL):c.1274G>A (p.Arg425His)	not specified [RCV005345367]	uncertain significance	3	42693193	42693193	Human		name
598247913	CV3978751	single nucleotide variant	NM_020707.4(HHATL):c.1047A>C (p.Lys349Asn)	not specified [RCV005345369]	uncertain significance	3	42693818	42693818	Human		name

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