Hgd Variant Search Result - Rat Genome Database

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608 records found for search term Hgd

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8591615	CV18213	insertion	HGD, 1-BP INS, 621G	Alkaptonuria [RCV000003324]	pathogenic				Human		name
10041560	CV186671	deletion	NM_000187.4(HGD):c.652del	Alkaptonuria [RCV000169458]	pathogenic\|likely pathogenic	3	120644441	120644441	Human	1	name
28872531	CV887707	single nucleotide variant	NM_000187.4(HGD):c.*32G>A	Alkaptonuria [RCV001146325]	uncertain significance	3	120628348	120628348	Human	1	name
28880211	CV887713	single nucleotide variant	NM_000187.4(HGD):c.-13G>C	Alkaptonuria [RCV001149236]	uncertain significance	3	120682124	120682124	Human	1	name
28880215	CV887714	single nucleotide variant	NM_000187.4(HGD):c.-18A>G	Alkaptonuria [RCV001149237]	uncertain significance	3	120682129	120682129	Human	1	name
28880218	CV887715	single nucleotide variant	NM_000187.4(HGD):c.-19C>T	Alkaptonuria [RCV001149238]	uncertain significance	3	120682130	120682130	Human	1	name
127242105	CV1091927	single nucleotide variant	NM_000187.4(HGD):c.87+7G>A	Alkaptonuria [RCV001423675]	likely benign	3	120675785	120675785	Human	1	name
127327716	CV1134305	deletion	NM_000187.4(HGD):c.15+8del	Alkaptonuria [RCV001506775]	likely benign	3	120682089	120682089	Human	1	name
152075116	CV1635363	single nucleotide variant	NM_000187.4(HGD):c.88-7G>T	Alkaptonuria [RCV002092119]	likely benign	3	120674996	120674996	Human	1	name
8591611	CV18209	single nucleotide variant	NM_000187.4(HGD):c.16-1G>A	Alkaptonuria [RCV000003320]\|HGD-related disorder [RCV004751195]\|not provided [RCV004597723]	pathogenic	3	120675864	120675864	Human	2	name , trait , alternate_id
401860443	CV2752250	single nucleotide variant	NM_000187.4(HGD):c.87+1G>A	Alkaptonuria [RCV003336655]	pathogenic\|likely pathogenic	3	120675791	120675791	Human	1	name
401860508	CV2752269	duplication	NM_000187.4(HGD):c.1008dup	Alkaptonuria [RCV003336674]	pathogenic	3	120633326	120633327	Human	1	name
405120804	CV2863616	single nucleotide variant	NM_000187.4(HGD):c.87+8C>T	Alkaptonuria [RCV003500875]	likely benign	3	120675784	120675784	Human	1	name
11594198	CV288250	single nucleotide variant	NM_000187.4(HGD):c.-100G>A	Alkaptonuria [RCV000356599]	uncertain significance	3	120682211	120682211	Human	1	name
11596686	CV288255	single nucleotide variant	NM_000187.3(HGD):c.-218A>G	Alkaptonuria [RCV000385500]	uncertain significance	3	120682329	120682329	Human	1	name
11587513	CV288257	single nucleotide variant	NM_000187.3(HGD):c.-221G>A	Alkaptonuria [RCV000295786]	uncertain significance	3	120682332	120682332	Human	1	name
11662013	CV288261	single nucleotide variant	NM_000187.3(HGD):c.-255G>T	Alkaptonuria [RCV000382201]	uncertain significance	3	120682366	120682366	Human	1	name
11582709	CV289027	single nucleotide variant	NM_000187.3(HGD):c.-163C>G	Alkaptonuria [RCV000261553]	uncertain significance	3	120682274	120682274	Human	1	name
11586392	CV289029	single nucleotide variant	NM_000187.3(HGD):c.-383C>G	Alkaptonuria [RCV000287727]	uncertain significance	3	120682494	120682494	Human	1	name
11598178	CV289040	single nucleotide variant	NM_000187.3(HGD):c.-446G>T	Alkaptonuria [RCV000402571]	uncertain significance	3	120682557	120682557	Human	1	name
11585923	CV289044	single nucleotide variant	NM_000187.3(HGD):c.-452G>T	Alkaptonuria [RCV000284347]	uncertain significance	3	120682563	120682563	Human	1	name
11656247	CV291956	single nucleotide variant	NM_000187.3(HGD):c.-241A>G	Alkaptonuria [RCV000332109]	uncertain significance	3	120682352	120682352	Human	1	name
11588872	CV292080	single nucleotide variant	NM_000187.3(HGD):c.*210G>A	Alkaptonuria [RCV000306468]	uncertain significance	3	120628170	120628170	Human	1	name
11591632	CV292104	single nucleotide variant	NM_000187.3(HGD):c.-207G>A	Alkaptonuria [RCV000331045]\|not provided [RCV004694701]	uncertain significance	3	120682318	120682318	Human	1	name
11658220	CV292106	single nucleotide variant	NM_000187.3(HGD):c.-407C>T	Alkaptonuria [RCV000347481]	uncertain significance	3	120682518	120682518	Human	1	name
12739950	CV357285	single nucleotide variant	NM_000187.4(HGD):c.15+1G>A	Alkaptonuria [RCV000410834]	likely pathogenic	3	120682096	120682096	Human	1	name
597971376	CV3802547	single nucleotide variant	NM_000187.4(HGD):c.88-8T>C	Alkaptonuria [RCV005142145]	likely benign	3	120674997	120674997	Human	1	name
28872523	CV887704	single nucleotide variant	NM_000187.4(HGD):c.*155A>G	Alkaptonuria [RCV001146322]	uncertain significance	3	120628225	120628225	Human	1	name
28872526	CV887705	single nucleotide variant	NM_000187.4(HGD):c.*145C>T	Alkaptonuria [RCV001146323]	uncertain significance	3	120628235	120628235	Human	1	name
28872528	CV887706	single nucleotide variant	NM_000187.4(HGD):c.*117G>A	Alkaptonuria [RCV001146324]	uncertain significance	3	120628263	120628263	Human	1	name
127254378	CV1091923	single nucleotide variant	NM_000187.4(HGD):c.880-5C>T	Alkaptonuria [RCV001437219]	likely benign	3	120638586	120638586	Human	1	name
127282331	CV1091926	single nucleotide variant	NM_000187.4(HGD):c.177-9T>C	Alkaptonuria [RCV001447748]	likely benign	3	120670541	120670541	Human	1	name
127290619	CV1113422	single nucleotide variant	NM_000187.4(HGD):c.879+9G>T	Alkaptonuria [RCV001451301]	likely benign	3	120641580	120641580	Human	1	name
127332322	CV1134304	single nucleotide variant	NM_000187.4(HGD):c.342+9G>T	Alkaptonuria [RCV001489420]	likely benign	3	120652583	120652583	Human	1	name
127297539	CV1154280	deletion	NM_000187.4(HGD):c.283-5del	Alkaptonuria [RCV001512915]	benign\|likely benign	3	120652656	120652656	Human	1	name
151719046	CV1458802	single nucleotide variant	NM_000187.4(HGD):c.283-1G>A	Alkaptonuria [RCV002003374]	likely pathogenic	3	120652652	120652652	Human	1	name
151787995	CV1488815	single nucleotide variant	NM_000187.4(HGD):c.775-1G>A	Alkaptonuria [RCV002010401]	likely pathogenic	3	120641694	120641694	Human	1	name
152144189	CV1543095	single nucleotide variant	NM_000187.4(HGD):c.879+9G>A	Alkaptonuria [RCV002178469]	likely benign	3	120641580	120641580	Human	1	name
152112304	CV1604181	single nucleotide variant	NM_000187.4(HGD):c.343-5C>T	Alkaptonuria [RCV002097018]	likely benign	3	120650870	120650870	Human	1	name
152129630	CV1607806	single nucleotide variant	NM_000187.4(HGD):c.343-6T>A	Alkaptonuria [RCV002176626]	likely benign	3	120650871	120650871	Human	1	name
10041590	CV186673	single nucleotide variant	NM_000187.4(HGD):c.342+1G>T	Alkaptonuria [RCV000169542]	pathogenic\|likely pathogenic	3	120652591	120652591	Human	1	name
156009580	CV1870733	single nucleotide variant	NM_000187.4(HGD):c.282+5C>A	Alkaptonuria [RCV003077008]	uncertain significance	3	120670422	120670422	Human	1	name
156380843	CV1873588	single nucleotide variant	NM_000187.4(HGD):c.550-9C>A	Alkaptonuria [RCV003067154]	likely benign	3	120646375	120646375	Human	1	name
156231961	CV2085337	single nucleotide variant	NM_000187.4(HGD):c.177-1G>T	Alkaptonuria [RCV002876271]	likely pathogenic	3	120670533	120670533	Human	1	name
156305813	CV2167516	deletion	NM_000187.4(HGD):c.434+1del	Alkaptonuria [RCV003045772]	pathogenic	3	120650773	120650773	Human	1	name
243057323	CV2415071	single nucleotide variant	NM_000187.4(HGD):c.880-2A>G	Alkaptonuria [RCV003146013]	likely pathogenic	3	120638583	120638583	Human	1	name
329952078	CV2668811	single nucleotide variant	NM_000187.4(HGD):c.342+3A>C	Alkaptonuria [RCV003337424]\|not specified [RCV003230892]	pathogenic\|uncertain significance	3	120652589	120652589	Human	1	name
401860441	CV2752249	single nucleotide variant	NM_000187.4(HGD):c.774+1G>T	Alkaptonuria [RCV003336654]	pathogenic	3	120644318	120644318	Human	1	name
401860519	CV2752275	single nucleotide variant	NM_000187.4(HGD):c.649+1G>A	Alkaptonuria [RCV003336680]	pathogenic	3	120646266	120646266	Human	1	name
401860520	CV2752276	single nucleotide variant	NM_000187.4(HGD):c.470-1G>A	Alkaptonuria [RCV003336681]	pathogenic	3	120647053	120647053	Human	1	name
401860524	CV2752278	single nucleotide variant	NM_000187.4(HGD):c.550-2A>G	Alkaptonuria [RCV003336683]	pathogenic	3	120646368	120646368	Human	1	name
401860525	CV2752279	single nucleotide variant	NM_000187.4(HGD):c.469+6T>C	Alkaptonuria [RCV003336684]	pathogenic	3	120647871	120647871	Human	1	name
401860622	CV2752328	single nucleotide variant	NM_000187.4(HGD):c.549+1G>A	Alkaptonuria [RCV003337701]	pathogenic	3	120646972	120646972	Human	1	name
401860626	CV2752330	single nucleotide variant	NM_000187.4(HGD):c.549+1G>T	Alkaptonuria [RCV003337703]	pathogenic	3	120646972	120646972	Human	1	name
401860628	CV2752332	single nucleotide variant	NM_000187.4(HGD):c.469+5G>A	Alkaptonuria [RCV003337705]	pathogenic	3	120647872	120647872	Human	1	name
401860632	CV2752333	single nucleotide variant	NM_000187.4(HGD):c.177-2A>G	Alkaptonuria [RCV003337706]	pathogenic	3	120670534	120670534	Human	1	name
401860633	CV2752334	single nucleotide variant	NM_000187.4(HGD):c.550-2A>C	Alkaptonuria [RCV003337707]	pathogenic	3	120646368	120646368	Human	1	name
405124006	CV2867410	single nucleotide variant	NM_000187.4(HGD):c.15+15G>A	Alkaptonuria [RCV003501279]	likely benign	3	120682082	120682082	Human	1	name
11585644	CV289023	single nucleotide variant	NM_000187.4(HGD):c.880-4A>G	Alkaptonuria [RCV000282585]	conflicting interpretations of pathogenicity\|uncertain significance	3	120638585	120638585	Human	1	name
405127376	CV2890887	single nucleotide variant	NM_000187.4(HGD):c.87+13A>G	Alkaptonuria [RCV003501667]	likely benign	3	120675779	120675779	Human	1	name
405127279	CV2893111	single nucleotide variant	NM_000187.4(HGD):c.774+7T>C	Alkaptonuria [RCV003501589]	likely benign	3	120644312	120644312	Human	1	name
405128406	CV2906600	single nucleotide variant	NM_000187.4(HGD):c.15+16A>T	Alkaptonuria [RCV003501836]	likely benign	3	120682081	120682081	Human	1	name
405118861	CV2927753	single nucleotide variant	NM_000187.4(HGD):c.550-7A>C	Alkaptonuria [RCV003500486]	likely benign	3	120646373	120646373	Human	1	name
405024030	CV3012916	single nucleotide variant	NM_000187.4(HGD):c.435-1G>C	Alkaptonuria [RCV003608275]	likely pathogenic	3	120647912	120647912	Human	1	name
405028260	CV3053130	single nucleotide variant	NM_000187.4(HGD):c.177-4C>T	Alkaptonuria [RCV003608523]	likely benign	3	120670536	120670536	Human	1	name
405028649	CV3068221	single nucleotide variant	NM_000187.4(HGD):c.88-20T>A	Alkaptonuria [RCV003608647]	likely benign	3	120675009	120675009	Human	1	name
405028254	CV3129818	deletion	NM_000187.4(HGD):c.470-6del	Alkaptonuria [RCV003830416]	benign	3	120647058	120647058	Human	1	name
405710767	CV3225812	single nucleotide variant	NM_000187.4(HGD):c.342+2T>C	Alkaptonuria [RCV003990870]	likely pathogenic	3	120652590	120652590	Human	1	name
12740262	CV357274	single nucleotide variant	NM_000187.4(HGD):c.649+2T>C	Alkaptonuria [RCV000411569]	pathogenic\|likely pathogenic	3	120646265	120646265	Human	1	name
12740370	CV357281	single nucleotide variant	NM_000187.4(HGD):c.177-1G>A	Alkaptonuria [RCV000411822]	likely pathogenic	3	120670533	120670533	Human	1	name
597680680	CV3723954	single nucleotide variant	NM_000187.4(HGD):c.879+7C>A	Alkaptonuria [RCV005031024]	uncertain significance	3	120641582	120641582	Human	1	name
597680686	CV3723955	single nucleotide variant	NM_000187.4(HGD):c.879+5G>C	Alkaptonuria [RCV005031025]	uncertain significance	3	120641584	120641584	Human	1	name
597680840	CV3723983	single nucleotide variant	NM_000187.4(HGD):c.176+4C>A	Alkaptonuria [RCV005031045]	uncertain significance	3	120674897	120674897	Human	1	name
597680849	CV3723984	single nucleotide variant	NM_000187.4(HGD):c.176+3A>G	Alkaptonuria [RCV005031046]	uncertain significance	3	120674898	120674898	Human	1	name
597872191	CV3768480	single nucleotide variant	NM_000187.4(HGD):c.469+7T>G	Alkaptonuria [RCV005122859]	likely benign	3	120647870	120647870	Human	1	name
598123855	CV3890466	single nucleotide variant	NM_000187.4(HGD):c.342+5G>A	Alkaptonuria [RCV005250985]	uncertain significance	3	120652587	120652587	Human	1	name
13785501	CV542943	single nucleotide variant	NM_000187.4(HGD):c.879+1G>A	Alkaptonuria [RCV000672087]	likely pathogenic	3	120641588	120641588	Human	1	name
15166252	CV743981	single nucleotide variant	NM_000187.4(HGD):c.470-5G>A	Alkaptonuria [RCV000904402]	likely benign	3	120647057	120647057	Human	1	name
8621800	CV76485	single nucleotide variant	NM_000187.4(HGD):c.342+1G>A	Alkaptonuria [RCV000055781]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	120652591	120652591	Human	1	name
15141350	CV779016	single nucleotide variant	NM_000187.4(HGD):c.283-4C>T	Alkaptonuria [RCV000966292]	benign	3	120652655	120652655	Human	1	name
28904597	CV891554	single nucleotide variant	NM_000187.4(HGD):c.434+8G>T	Alkaptonuria [RCV001144539]	uncertain significance	3	120650766	120650766	Human	1	name
28872827	CV891555	single nucleotide variant	NM_000187.4(HGD):c.177-5T>C	Alkaptonuria [RCV001146463]	conflicting interpretations of pathogenicity\|uncertain significance	3	120670537	120670537	Human	1	name
38476082	CV959675	single nucleotide variant	NM_000187.4(HGD):c.469+2T>C	Alkaptonuria [RCV001232918]	pathogenic\|likely pathogenic	3	120647875	120647875	Human	1	name
38495621	CV960504	single nucleotide variant	NM_000187.4(HGD):c.469+1G>C	Alkaptonuria [RCV001242049]	pathogenic	3	120647876	120647876	Human	1	name
127257970	CV1059572	single nucleotide variant	NM_000187.4(HGD):c.1188+1G>A	Alkaptonuria [RCV001386852]	pathogenic	3	120633146	120633146	Human	1	name
127265602	CV1059575	single nucleotide variant	NM_000187.4(HGD):c.1006+2T>A	Alkaptonuria [RCV001381505]	pathogenic	3	120638453	120638453	Human	1	name
127319271	CV1154281	duplication	NM_000187.4(HGD):c.283-12dup	Alkaptonuria [RCV001522050]	benign	3	120652655	120652656	Human	1	name
150435943	CV1275188	single nucleotide variant	NM_000187.4(HGD):c.342+25C>T	Alkaptonuria [RCV001702212]\|not provided [RCV004716795]	benign	3	120652567	120652567	Human	1	name
151762877	CV1471430	single nucleotide variant	NM_000187.4(HGD):c.1007-2A>T	Alkaptonuria [RCV001949356]\|HGD-related disorder [RCV003401973]	pathogenic	3	120633330	120633330	Human	2	name , trait , alternate_id
152109460	CV1520271	single nucleotide variant	NM_000187.4(HGD):c.1189-8T>A	Alkaptonuria [RCV002134295]	likely benign	3	120628537	120628537	Human	1	name
152031652	CV1546088	single nucleotide variant	NM_000187.4(HGD):c.879+18A>G	Alkaptonuria [RCV002124604]\|not provided [RCV004716875]	benign	3	120641571	120641571	Human	1	name
152055824	CV1596584	single nucleotide variant	NM_000187.4(HGD):c.1188+8T>C	Alkaptonuria [RCV002127762]	likely benign	3	120633139	120633139	Human	1	name
156398693	CV1881132	single nucleotide variant	NM_000187.4(HGD):c.650-13T>G	Alkaptonuria [RCV003068918]	pathogenic	3	120644456	120644456	Human	1	name
156071852	CV1893548	single nucleotide variant	NM_000187.4(HGD):c.774+17G>C	Alkaptonuria [RCV003079565]	likely benign	3	120644302	120644302	Human	1	name
156210869	CV1902405	single nucleotide variant	NM_000187.4(HGD):c.283-18T>A	Alkaptonuria [RCV003084590]	uncertain significance	3	120652669	120652669	Human	1	name
156438522	CV1947131	single nucleotide variant	NM_000187.4(HGD):c.1188+7A>T	Alkaptonuria [RCV003108466]	likely benign	3	120633140	120633140	Human	1	name
156107559	CV2096503	single nucleotide variant	NM_000187.4(HGD):c.282+14G>A	Alkaptonuria [RCV002913643]	benign	3	120670413	120670413	Human	1	name
156118565	CV2128411	single nucleotide variant	NM_000187.4(HGD):c.1188+2T>A	Alkaptonuria [RCV002953408]	pathogenic	3	120633145	120633145	Human	1	name
401860458	CV2752258	single nucleotide variant	NM_000187.4(HGD):c.650-56G>A	Alkaptonuria [RCV003336663]	pathogenic	3	120644499	120644499	Human	1	name
401860473	CV2752267	single nucleotide variant	NM_000187.4(HGD):c.650-17G>A	Alkaptonuria [RCV003336672]	pathogenic	3	120644460	120644460	Human	1	name
401860517	CV2752274	single nucleotide variant	NM_000187.4(HGD):c.649+39T>G	Alkaptonuria [RCV003336679]	pathogenic	3	120646228	120646228	Human	1	name
401860522	CV2752277	single nucleotide variant	NM_000187.4(HGD):c.1188+8T>A	Alkaptonuria [RCV003336682]	pathogenic	3	120633139	120633139	Human	1	name
401860627	CV2752331	single nucleotide variant	NM_000187.4(HGD):c.775-16T>A	Alkaptonuria [RCV003337704]	pathogenic	3	120641709	120641709	Human	1	name
401860634	CV2752335	single nucleotide variant	NM_000187.4(HGD):c.1006+6T>C	Alkaptonuria [RCV003337708]	pathogenic	3	120638449	120638449	Human	1	name
405124432	CV2871715	single nucleotide variant	NM_000187.4(HGD):c.176+13G>C	Alkaptonuria [RCV003501330]	likely benign	3	120674888	120674888	Human	1	name
405126039	CV2879807	single nucleotide variant	NM_000187.4(HGD):c.177-16A>G	Alkaptonuria [RCV003501398]	likely benign	3	120670548	120670548	Human	1	name
11598331	CV288247	single nucleotide variant	NM_000187.4(HGD):c.550-14G>C	Alkaptonuria [RCV000404363]	conflicting interpretations of pathogenicity\|uncertain significance	3	120646380	120646380	Human	1	name
405125488	CV2888057	single nucleotide variant	NM_000187.4(HGD):c.434+19G>A	Alkaptonuria [RCV003501493]	likely benign	3	120650755	120650755	Human	1	name
405126293	CV2893016	single nucleotide variant	NM_000187.4(HGD):c.775-15G>T	Alkaptonuria [RCV003501569]	likely benign	3	120641708	120641708	Human	1	name
405127805	CV2899419	single nucleotide variant	NM_000187.4(HGD):c.283-13A>T	Alkaptonuria [RCV003501763]	likely benign	3	120652664	120652664	Human	1	name
405128042	CV2902371	single nucleotide variant	NM_000187.4(HGD):c.649+13T>C	Alkaptonuria [RCV003501792]	likely benign	3	120646254	120646254	Human	1	name
405128414	CV2906690	single nucleotide variant	NM_000187.4(HGD):c.342+15T>A	Alkaptonuria [RCV003501837]	likely benign	3	120652577	120652577	Human	1	name
11589302	CV291944	single nucleotide variant	NM_000187.4(HGD):c.343-11G>A	Alkaptonuria [RCV000309641]\|not provided [RCV004716000]	benign\|uncertain significance	3	120650876	120650876	Human	1	name
405117885	CV2922713	single nucleotide variant	NM_000187.4(HGD):c.342+20A>G	Alkaptonuria [RCV003500360]	likely benign	3	120652572	120652572	Human	1	name
405118268	CV2923635	deletion	NM_000187.4(HGD):c.879+14del	Alkaptonuria [RCV003500435]	likely benign	3	120641575	120641575	Human	1	name
405118054	CV2926319	single nucleotide variant	NM_000187.4(HGD):c.880-20C>A	Alkaptonuria [RCV003500382]	likely benign	3	120638601	120638601	Human	1	name
405018257	CV2954846	single nucleotide variant	NM_000187.4(HGD):c.649+18G>A	Alkaptonuria [RCV003607728]	likely benign	3	120646249	120646249	Human	1	name
405018700	CV2963260	single nucleotide variant	NM_000187.4(HGD):c.177-18G>C	Alkaptonuria [RCV003607768]	likely benign	3	120670550	120670550	Human	1	name
405020856	CV2989388	single nucleotide variant	NM_000187.4(HGD):c.434+19G>T	Alkaptonuria [RCV003608006]	likely benign	3	120650755	120650755	Human	1	name
405022943	CV2997086	single nucleotide variant	NM_000187.4(HGD):c.283-20T>C	Alkaptonuria [RCV003608178]	likely benign	3	120652671	120652671	Human	1	name
405023088	CV3000628	single nucleotide variant	NM_000187.4(HGD):c.469+15C>G	Alkaptonuria [RCV003608191]	likely benign	3	120647862	120647862	Human	1	name
405026075	CV3031236	single nucleotide variant	NM_000187.4(HGD):c.342+19C>T	Alkaptonuria [RCV003608450]	likely benign	3	120652573	120652573	Human	1	name
405013049	CV3058877	deletion	NM_000187.4(HGD):c.343-11del	Alkaptonuria [RCV003607044]	likely benign	3	120650876	120650876	Human	1	name
405012763	CV3064591	single nucleotide variant	NM_000187.4(HGD):c.434+12A>G	Alkaptonuria [RCV003607017]	likely benign	3	120650762	120650762	Human	1	name
405013333	CV3066008	single nucleotide variant	NM_000187.4(HGD):c.879+14C>T	Alkaptonuria [RCV003607070]	likely benign	3	120641575	120641575	Human	1	name
405014113	CV3071781	single nucleotide variant	NM_000187.4(HGD):c.343-11G>T	Alkaptonuria [RCV003607149]	likely benign	3	120650876	120650876	Human	1	name
405013636	CV3073493	single nucleotide variant	NM_000187.4(HGD):c.282+11C>T	Alkaptonuria [RCV003607104]	likely benign	3	120670416	120670416	Human	1	name
405014427	CV3075150	single nucleotide variant	NM_000187.4(HGD):c.434+13G>C	Alkaptonuria [RCV003607181]	likely benign	3	120650761	120650761	Human	1	name
405014378	CV3077447	single nucleotide variant	NM_000187.4(HGD):c.434+14T>C	Alkaptonuria [RCV003607175]	likely benign	3	120650760	120650760	Human	1	name
405014405	CV3077607	single nucleotide variant	NM_000187.4(HGD):c.649+13T>G	Alkaptonuria [RCV003607178]	likely benign	3	120646254	120646254	Human	1	name
405014130	CV3079912	single nucleotide variant	NM_000187.4(HGD):c.177-17T>C	Alkaptonuria [RCV003607151]	likely benign	3	120670549	120670549	Human	1	name
404976911	CV3123734	single nucleotide variant	NM_000187.4(HGD):c.434+20G>A	Alkaptonuria [RCV003825160]	likely benign	3	120650754	120650754	Human	1	name
405159988	CV3124985	single nucleotide variant	NM_000187.4(HGD):c.470-11T>G	Alkaptonuria [RCV003818256]	likely benign	3	120647063	120647063	Human	1	name
405218002	CV3161046	single nucleotide variant	NM_000187.4(HGD):c.176+14A>T	Alkaptonuria [RCV003863108]	likely benign	3	120674887	120674887	Human	1	name
405245824	CV3162137	single nucleotide variant	NM_000187.4(HGD):c.775-15G>A	Alkaptonuria [RCV003868656]	likely benign	3	120641708	120641708	Human	1	name
405242948	CV3164585	single nucleotide variant	NM_000187.4(HGD):c.1006+9C>T	Alkaptonuria [RCV003867666]	likely benign	3	120638446	120638446	Human	1	name
405239700	CV3165993	single nucleotide variant	NM_000187.4(HGD):c.470-18C>T	Alkaptonuria [RCV003867005]	likely benign	3	120647070	120647070	Human	1	name
402470916	CV3175211	single nucleotide variant	NM_000187.4(HGD):c.177-19T>C	Alkaptonuria [RCV003874143]	likely benign	3	120670551	120670551	Human	1	name
402505022	CV3181422	single nucleotide variant	NM_000187.4(HGD):c.283-18T>C	Alkaptonuria [RCV003878256]	likely benign	3	120652669	120652669	Human	1	name
402495258	CV3183075	single nucleotide variant	NM_000187.4(HGD):c.774+20A>C	Alkaptonuria [RCV003877383]	likely benign	3	120644299	120644299	Human	1	name
12739549	CV357268	single nucleotide variant	NM_000187.4(HGD):c.1188+1G>T	Alkaptonuria [RCV000409868]	pathogenic\|likely pathogenic	3	120633146	120633146	Human	1	name
597959224	CV3752063	single nucleotide variant	NM_000187.4(HGD):c.470-14T>C	Alkaptonuria [RCV005081193]	likely benign	3	120647066	120647066	Human	1	name
597933560	CV3810742	single nucleotide variant	NM_000187.4(HGD):c.775-10T>C	Alkaptonuria [RCV005157451]	likely benign	3	120641703	120641703	Human	1	name
597875803	CV3813101	single nucleotide variant	NM_000187.4(HGD):c.775-18C>T	Alkaptonuria [RCV005149037]	likely benign	3	120641711	120641711	Human	1	name
597917749	CV3842137	single nucleotide variant	NM_000187.4(HGD):c.880-18C>T	Alkaptonuria [RCV005183812]	likely benign	3	120638599	120638599	Human	1	name
15190472	CV774796	deletion	NM_000187.4(HGD):c.1007-3del	Alkaptonuria [RCV001396296]	likely benign	3	120633331	120633331	Human	1	name
15147247	CV779013	single nucleotide variant	NM_000187.4(HGD):c.650-85A>G	Alkaptonuria [RCV000967303]\|not provided [RCV004716644]	benign	3	120644528	120644528	Human	1	name
28879874	CV891553	single nucleotide variant	NM_000187.4(HGD):c.1189-4C>T	Alkaptonuria [RCV001149125]	uncertain significance	3	120628533	120628533	Human	1	name
151232364	CV1254248	single nucleotide variant	NM_000187.4(HGD):c.16-2063A>C	Alkaptonuria [RCV001799115]	likely pathogenic	3	120677926	120677926	Human	1	name
405126572	CV2890400	single nucleotide variant	NM_000187.4(HGD):c.1189-20C>G	Alkaptonuria [RCV003501632]	likely benign	3	120628549	120628549	Human	1	name
405118473	CV2922923	single nucleotide variant	NM_000187.4(HGD):c.1189-14G>A	Alkaptonuria [RCV003500392]	likely benign	3	120628543	120628543	Human	1	name
405013403	CV3070081	single nucleotide variant	NM_000187.4(HGD):c.1007-18C>T	Alkaptonuria [RCV003607077]	likely benign	3	120633346	120633346	Human	1	name
407457628	CV3416149	single nucleotide variant	NM_000187.4(HGD):c.1007-10A>G	not provided [RCV004599027]	uncertain significance	3	120633338	120633338	Human		name
597870470	CV3858512	single nucleotide variant	NM_000187.4(HGD):c.1189-17A>C	Alkaptonuria [RCV005197255]	likely benign	3	120628546	120628546	Human	1	name
8577951	CV112328	single nucleotide variant	NM_000187.3(HGD):c.283-7415A>G	Lung cancer [RCV000092851]	uncertain significance	3	120660066	120660066	Human		name
12740542	CV357279	deletion	NM_000187.4(HGD):c.339_342+2del	Alkaptonuria [RCV000412288]	likely pathogenic	3	120652590	120652595	Human	1	name
156365635	CV1909229	deletion	NM_000187.4(HGD):c.413_434+35del	Alkaptonuria [RCV002602808]	pathogenic\|likely pathogenic	3	120650739	120650795	Human	1	name
401860451	CV2752255	deletion	NM_000187.4(HGD):c.87+8_88-31del	Alkaptonuria [RCV003336660]	pathogenic	3	120675020	120675784	Human	1	name
401860468	CV2752264	insertion	NM_000187.4(HGD):c.470-1_470insA	Alkaptonuria [RCV003336669]	pathogenic	3	120647052	120647053	Human	1	name
152142825	CV1636528	single nucleotide variant	NM_000187.4(HGD):c.6T>A (p.Ala2=)	Alkaptonuria [RCV002120614]	likely benign	3	120682106	120682106	Human	1	name
126733368	CV1019730	microsatellite	NM_000187.4(HGD):c.774+6_774+10del	Alkaptonuria [RCV005400674]	pathogenic\|uncertain significance	3	120644309	120644313	Human		name
152133809	CV1613140	single nucleotide variant	NM_000187.4(HGD):c.24T>C (p.Ser8=)	Alkaptonuria [RCV002155882]	likely benign	3	120675855	120675855	Human	1	name
401860449	CV2752254	deletion	NM_000187.4(HGD):c.1189-41_1248del	Alkaptonuria [RCV003336659]	pathogenic	3	120628470	120628570	Human	1	name
401860637	CV2752336	single nucleotide variant	NM_000187.4(HGD):c.15G>A (p.Lys5=)	Alkaptonuria [RCV003337709]	pathogenic	3	120682097	120682097	Human	1	name
15188338	CV763539	single nucleotide variant	NM_000187.4(HGD):c.27A>T (p.Gly9=)	Alkaptonuria [RCV001405154]	likely benign	3	120675852	120675852	Human	1	name
15141518	CV763540	single nucleotide variant	NM_000187.4(HGD):c.18C>T (p.Tyr6=)	Alkaptonuria [RCV001430128]	likely benign	3	120675861	120675861	Human	1	name
127298176	CV1113426	single nucleotide variant	NM_000187.4(HGD):c.33G>C (p.Gly11=)	Alkaptonuria [RCV001460480]	likely benign	3	120675846	120675846	Human	1	name
9589244	CV166057	deletion	NM_000187.4(HGD):c.16-272_87+305del	Alkaptonuria [RCV000144263]	pathogenic	3	120675487	120676135	Human	1	name
405122794	CV2866152	deletion	NM_000187.4(HGD):c.177-14_177-11del	Alkaptonuria [RCV003501120]	likely benign	3	120670543	120670546	Human	1	name
405125785	CV2882055	microsatellite	NM_000187.4(HGD):c.343-20_343-19del	Alkaptonuria [RCV003501531]	likely benign	3	120650884	120650885	Human		name
405126540	CV2890100	single nucleotide variant	NM_000187.4(HGD):c.57T>G (p.Pro19=)	Alkaptonuria [RCV003501628]	likely benign	3	120675822	120675822	Human	1	name
11654204	CV289026	single nucleotide variant	NM_000187.4(HGD):c.48A>G (p.Ser16=)	Alkaptonuria [RCV000315781]	uncertain significance	3	120675831	120675831	Human	1	name
405115694	CV2909145	deletion	NM_000187.4(HGD):c.342+16_342+17del	Alkaptonuria [RCV003500059]	likely benign	3	120652575	120652576	Human	1	name
405028418	CV3051415	deletion	NM_000187.4(HGD):c.880-23_880-18del	Alkaptonuria [RCV003608570]	likely benign	3	120638599	120638604	Human	1	name
12740459	CV357286	single nucleotide variant	NM_000187.4(HGD):c.3G>C (p.Met1Ile)	Alkaptonuria [RCV000412049]	pathogenic\|likely pathogenic	3	120682109	120682109	Human	1	name
597926526	CV3748913	deletion	NM_000187.4(HGD):c.470-15_470-12del	Alkaptonuria [RCV005075369]	likely benign	3	120647064	120647067	Human	1	name
597928522	CV3816152	single nucleotide variant	NM_000187.4(HGD):c.78A>G (p.Pro26=)	Alkaptonuria [RCV005156733]	likely benign	3	120675801	120675801	Human	1	name
13785052	CV542905	single nucleotide variant	NM_000187.4(HGD):c.8A>C (p.Glu3Ala)	Alkaptonuria [RCV000671567]\|not provided [RCV004692067]	uncertain significance	3	120682104	120682104	Human	1	name
34888571	CV917802	single nucleotide variant	NM_000187.4(HGD):c.1A>G (p.Met1Val)	Alkaptonuria [RCV001194655]	pathogenic	3	120682111	120682111	Human	1	name
127232810	CV1070181	single nucleotide variant	NM_000187.4(HGD):c.288A>G (p.Arg96=)	Alkaptonuria [RCV001395890]	likely benign	3	120652646	120652646	Human	1	name
127256044	CV1070182	single nucleotide variant	NM_000187.4(HGD):c.243C>T (p.Val81=)	Alkaptonuria [RCV001401176]	likely benign	3	120670466	120670466	Human	1	name
127247247	CV1070183	single nucleotide variant	NM_000187.4(HGD):c.120T>C (p.Tyr40=)	Alkaptonuria [RCV001394233]	likely benign	3	120674957	120674957	Human	1	name
127250304	CV1070184	single nucleotide variant	NM_000187.4(HGD):c.111C>T (p.Tyr37=)	Alkaptonuria [RCV001417547]	likely benign	3	120674966	120674966	Human	1	name
127237739	CV1091925	single nucleotide variant	NM_000187.4(HGD):c.225C>T (p.Ser75=)	Alkaptonuria [RCV001422755]	likely benign	3	120670484	120670484	Human	1	name
151738147	CV1458170	single nucleotide variant	NM_000187.4(HGD):c.11T>C (p.Leu4Ser)	Alkaptonuria [RCV001946825]	pathogenic\|likely pathogenic	3	120682101	120682101	Human	1	name
152071058	CV1552011	single nucleotide variant	NM_000187.4(HGD):c.198T>C (p.Pro66=)	Alkaptonuria [RCV002148082]	likely benign	3	120670511	120670511	Human	1	name
152138355	CV1565008	single nucleotide variant	NM_000187.4(HGD):c.228T>C (p.Ile76=)	Alkaptonuria [RCV002083822]	likely benign	3	120670481	120670481	Human	1	name
152076996	CV1592078	single nucleotide variant	NM_000187.4(HGD):c.168T>C (p.Asn56=)	Alkaptonuria [RCV002112240]	likely benign	3	120674909	120674909	Human	1	name
152104099	CV1622547	single nucleotide variant	NM_000187.4(HGD):c.132C>T (p.Leu44=)	Alkaptonuria [RCV002214568]	likely benign	3	120674945	120674945	Human	1	name
10041364	CV186674	single nucleotide variant	NM_000187.4(HGD):c.11T>A (p.Leu4Ter)	Alkaptonuria [RCV000169012]	pathogenic\|likely pathogenic	3	120682101	120682101	Human	1	name
156291321	CV1926530	single nucleotide variant	NM_000187.4(HGD):c.186T>C (p.Tyr62=)	Alkaptonuria [RCV002628827]	likely benign	3	120670523	120670523	Human	1	name
156294864	CV2119175	single nucleotide variant	NM_000187.4(HGD):c.237C>T (p.Gly79=)	Alkaptonuria [RCV002961877]	likely benign	3	120670472	120670472	Human	1	name
401860465	CV2752262	deletion	NM_000187.4(HGD):c.85del (p.Gln29fs)	Alkaptonuria [RCV003336667]	pathogenic	3	120675794	120675794	Human	1	name
401860624	CV2752329	single nucleotide variant	NM_000187.4(HGD):c.189G>A (p.Arg63=)	Alkaptonuria [RCV003337702]	pathogenic	3	120670520	120670520	Human	1	name
11582517	CV288249	single nucleotide variant	NM_000187.4(HGD):c.141G>A (p.Ser47=)	Alkaptonuria [RCV000260518]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	120674936	120674936	Human	1	name
405019592	CV2973148	single nucleotide variant	NM_000187.4(HGD):c.210C>T (p.His70=)	Alkaptonuria [RCV003607874]	likely benign	3	120670499	120670499	Human	1	name
405026063	CV3021235	single nucleotide variant	NM_000187.4(HGD):c.165C>T (p.Thr55=)	Alkaptonuria [RCV003608449]	likely benign	3	120674912	120674912	Human	1	name
405027379	CV3047952	single nucleotide variant	NM_000187.4(HGD):c.279C>T (p.Asn93=)	Alkaptonuria [RCV003608572]	likely benign	3	120670430	120670430	Human	1	name
405225144	CV3158913	single nucleotide variant	NM_000187.4(HGD):c.216C>T (p.Pro72=)	Alkaptonuria [RCV003864215]	likely benign	3	120670493	120670493	Human	1	name
12740208	CV357283	deletion	NM_000187.4(HGD):c.58del (p.Arg20fs)	Alkaptonuria [RCV000411427]	likely pathogenic	3	120675821	120675821	Human	1	name
597711818	CV3723989	single nucleotide variant	NM_000187.4(HGD):c.19A>G (p.Ile7Val)	Alkaptonuria [RCV005034908]	uncertain significance	3	120675860	120675860	Human	1	name
597680881	CV3723990	single nucleotide variant	NM_000187.4(HGD):c.14A>G (p.Lys5Arg)	Alkaptonuria [RCV005031050]	uncertain significance	3	120682098	120682098	Human	1	name
15175320	CV720101	single nucleotide variant	NM_000187.4(HGD):c.129G>A (p.Gln43=)	Alkaptonuria [RCV000884336]\|HGD-related disorder [RCV003940492]	benign\|likely benign	3	120674948	120674948	Human	2	name , trait , alternate_id
15114193	CV747916	single nucleotide variant	NM_000187.4(HGD):c.231C>T (p.Asp77=)	Alkaptonuria [RCV000917232]	likely benign	3	120670478	120670478	Human	1	name
127279594	CV1070178	single nucleotide variant	NM_000187.4(HGD):c.912G>A (p.Lys304=)	Alkaptonuria [RCV001409230]	likely benign	3	120638549	120638549	Human	1	name
127257517	CV1070179	single nucleotide variant	NM_000187.4(HGD):c.786G>A (p.Pro262=)	Alkaptonuria [RCV001419318]\|HGD-related disorder [RCV003965788]	likely benign	3	120641682	120641682	Human	2	name , trait , alternate_id
127235701	CV1070180	single nucleotide variant	NM_000187.4(HGD):c.396T>A (p.Ala132=)	Alkaptonuria [RCV001414533]	likely benign	3	120650812	120650812	Human	1	name
127278979	CV1091924	single nucleotide variant	NM_000187.4(HGD):c.540C>T (p.Cys180=)	Alkaptonuria [RCV001445462]	likely benign	3	120646982	120646982	Human	1	name
127303707	CV1113421	single nucleotide variant	NM_000187.4(HGD):c.960T>G (p.Pro320=)	Alkaptonuria [RCV001461993]	likely benign	3	120638501	120638501	Human	1	name
127289764	CV1113423	single nucleotide variant	NM_000187.4(HGD):c.834C>T (p.Asn278=)	Alkaptonuria [RCV001450995]	likely benign	3	120641634	120641634	Human	1	name
127326772	CV1113424	single nucleotide variant	NM_000187.4(HGD):c.807C>T (p.His269=)	Alkaptonuria [RCV001468875]	likely benign	3	120641661	120641661	Human	1	name
127300490	CV1113425	single nucleotide variant	NM_000187.4(HGD):c.561G>A (p.Arg187=)	Alkaptonuria [RCV001478426]	likely benign	3	120646355	120646355	Human	1	name
151856903	CV1347871	single nucleotide variant	NM_000187.4(HGD):c.43T>C (p.Ser15Pro)	Alkaptonuria [RCV001979636]	uncertain significance	3	120675836	120675836	Human	1	name
151819961	CV1501013	single nucleotide variant	NM_000187.4(HGD):c.58C>T (p.Arg20Cys)	Alkaptonuria [RCV001992673]\|Inborn genetic diseases [RCV005350796]	uncertain significance	3	120675821	120675821	Human	2	name
152102077	CV1523838	single nucleotide variant	NM_000187.4(HGD):c.831C>T (p.Tyr277=)	Alkaptonuria [RCV002133396]	likely benign	3	120641637	120641637	Human	1	name
152070625	CV1535424	single nucleotide variant	NM_000187.4(HGD):c.327A>G (p.Lys109=)	Alkaptonuria [RCV002111399]	likely benign	3	120652607	120652607	Human	1	name
152079128	CV1539967	single nucleotide variant	NM_000187.4(HGD):c.682T>C (p.Leu228=)	Alkaptonuria [RCV002112509]	likely benign	3	120644411	120644411	Human	1	name
152076746	CV1565553	single nucleotide variant	NM_000187.4(HGD):c.612T>C (p.Tyr204=)	Alkaptonuria [RCV002148787]	likely benign	3	120646304	120646304	Human	1	name
152034091	CV1573261	single nucleotide variant	NM_000187.4(HGD):c.714A>G (p.Gln238=)	Alkaptonuria [RCV002187203]	likely benign	3	120644379	120644379	Human	1	name
152044953	CV1588684	single nucleotide variant	NM_000187.4(HGD):c.501C>T (p.Thr167=)	Alkaptonuria [RCV002188726]	likely benign	3	120647021	120647021	Human	1	name
152170261	CV1592339	single nucleotide variant	NM_000187.4(HGD):c.816T>C (p.Tyr272=)	Alkaptonuria [RCV002161711]	likely benign	3	120641652	120641652	Human	1	name
152162749	CV1600602	single nucleotide variant	NM_000187.4(HGD):c.559C>A (p.Arg187=)	Alkaptonuria [RCV002141202]	likely benign	3	120646357	120646357	Human	1	name
152070760	CV1600966	single nucleotide variant	NM_000187.4(HGD):c.702T>C (p.Tyr234=)	Alkaptonuria [RCV002111416]	likely benign	3	120644391	120644391	Human	1	name
152050635	CV1606953	single nucleotide variant	NM_000187.4(HGD):c.810G>A (p.Gly270=)	Alkaptonuria [RCV002108923]	likely benign	3	120641658	120641658	Human	1	name
152099001	CV1627177	single nucleotide variant	NM_000187.4(HGD):c.792T>C (p.Asn264=)	Alkaptonuria [RCV002095258]	likely benign	3	120641676	120641676	Human	1	name
152132060	CV1660521	single nucleotide variant	NM_000187.4(HGD):c.663G>A (p.Leu221=)	Alkaptonuria [RCV002176928]	likely benign	3	120644430	120644430	Human	1	name
155736169	CV1781951	deletion	NM_000187.4(HGD):c.170del (p.Lys57fs)	Alkaptonuria [RCV002309692]	likely pathogenic	3	120674907	120674907	Human	1	name
8591612	CV18210	deletion	NM_000187.4(HGD):c.175del (p.Ser59fs)	Alkaptonuria [RCV000003321]\|not provided [RCV001169911]	pathogenic	3	120674902	120674902	Human	1	name
156292871	CV1926605	single nucleotide variant	NM_000187.4(HGD):c.420C>T (p.Thr140=)	Alkaptonuria [RCV002628887]	likely benign	3	120650788	120650788	Human	1	name
155949778	CV2058655	deletion	NM_000187.4(HGD):c.133del (p.Ser45fs)	Alkaptonuria [RCV002816201]	pathogenic	3	120674944	120674944	Human	1	name
156326422	CV2068628	single nucleotide variant	NM_000187.4(HGD):c.999T>C (p.Tyr333=)	Alkaptonuria [RCV002835041]	likely benign	3	120638462	120638462	Human	1	name
155927676	CV2218438	single nucleotide variant	NM_000187.4(HGD):c.49G>A (p.Glu17Lys)	Alkaptonuria [RCV005028347]\|Inborn genetic diseases [RCV002683729]	uncertain significance	3	120675830	120675830	Human	2	name
11544969	CV250851	single nucleotide variant	NM_000187.4(HGD):c.360T>C (p.Cys120=)	Alkaptonuria [RCV001521873]\|not specified [RCV000244506]	benign\|likely benign	3	120650848	120650848	Human	1	name
401859553	CV2794340	single nucleotide variant	NM_000187.4(HGD):c.37G>A (p.Glu13Lys)	Alkaptonuria [RCV003387455]	pathogenic\|uncertain significance	3	120675842	120675842	Human	1	name
401859571	CV2794351	single nucleotide variant	NM_000187.4(HGD):c.52G>A (p.Asp18Asn)	Alkaptonuria [RCV003387466]	pathogenic	3	120675827	120675827	Human	1	name
401859581	CV2794358	single nucleotide variant	NM_000187.4(HGD):c.52G>T (p.Asp18Tyr)	Alkaptonuria [RCV003387473]	pathogenic	3	120675827	120675827	Human	1	name
401859596	CV2794368	single nucleotide variant	NM_000187.4(HGD):c.507T>C (p.Phe169=)	Alkaptonuria [RCV003387483]	pathogenic	3	120647015	120647015	Human	1	name
401859597	CV2794369	single nucleotide variant	NM_000187.4(HGD):c.54T>A (p.Asp18Glu)	Alkaptonuria [RCV003387484]	pathogenic	3	120675825	120675825	Human	1	name
401859601	CV2794371	single nucleotide variant	NM_000187.4(HGD):c.74T>C (p.Leu25Pro)	Alkaptonuria [RCV003387486]	pathogenic	3	120675805	120675805	Human	1	name
401859602	CV2794372	single nucleotide variant	NM_000187.4(HGD):c.98A>G (p.Gln33Arg)	Alkaptonuria [RCV003387487]	pathogenic	3	120674979	120674979	Human	1	name
405120887	CV2857392	single nucleotide variant	NM_000187.4(HGD):c.897A>G (p.Thr299=)	Alkaptonuria [RCV003500888]	likely benign	3	120638564	120638564	Human	1	name
405126003	CV2879975	single nucleotide variant	NM_000187.4(HGD):c.660C>G (p.Gly220=)	Alkaptonuria [RCV003501402]	likely benign	3	120644433	120644433	Human	1	name
405126768	CV2894347	single nucleotide variant	NM_000187.4(HGD):c.963A>G (p.Arg321=)	Alkaptonuria [RCV003501657]	likely benign	3	120638498	120638498	Human	1	name
405127492	CV2894989	single nucleotide variant	NM_000187.4(HGD):c.375A>T (p.Ile125=)	Alkaptonuria [RCV003501726]	likely benign	3	120650833	120650833	Human	1	name
405128315	CV2900272	single nucleotide variant	NM_000187.4(HGD):c.735C>T (p.Val245=)	Alkaptonuria [RCV003501824]	likely benign	3	120644358	120644358	Human	1	name
11586734	CV291941	single nucleotide variant	NM_000187.4(HGD):c.474G>T (p.Pro158=)	Alkaptonuria [RCV000289762]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	120647048	120647048	Human	1	name
11596870	CV292085	single nucleotide variant	NM_000187.4(HGD):c.765T>C (p.Ala255=)	Alkaptonuria [RCV000387482]	conflicting interpretations of pathogenicity\|uncertain significance	3	120644328	120644328	Human	1	name
11593012	CV292093	single nucleotide variant	NM_000187.4(HGD):c.474G>A (p.Pro158=)	Alkaptonuria [RCV000344698]	conflicting interpretations of pathogenicity\|uncertain significance	3	120647048	120647048	Human	1	name
11597554	CV292095	single nucleotide variant	NM_000187.4(HGD):c.372C>T (p.Asp124=)	Alkaptonuria [RCV000395669]\|not provided [RCV004715999]	benign\|likely benign	3	120650836	120650836	Human	1	name
405017645	CV2936212	single nucleotide variant	NM_000187.4(HGD):c.900A>G (p.Val300=)	Alkaptonuria [RCV003607610]	likely benign	3	120638561	120638561	Human	1	name
405017396	CV2938488	single nucleotide variant	NM_000187.4(HGD):c.684G>A (p.Leu228=)	Alkaptonuria [RCV003607668]	likely benign	3	120644409	120644409	Human	1	name
405017259	CV2947845	single nucleotide variant	NM_000187.4(HGD):c.756G>A (p.Lys252=)	Alkaptonuria [RCV003607655]	likely benign	3	120644337	120644337	Human	1	name
405019062	CV2971690	deletion	NM_000187.4(HGD):c.100del (p.Val34fs)	Alkaptonuria [RCV003607803]	pathogenic	3	120674977	120674977	Human	1	name
405021323	CV2983075	single nucleotide variant	NM_000187.4(HGD):c.672T>C (p.Pro224=)	Alkaptonuria [RCV003608027]	likely benign	3	120644421	120644421	Human	1	name
405021570	CV2983542	single nucleotide variant	NM_000187.4(HGD):c.480A>G (p.Lys160=)	Alkaptonuria [RCV003608051]	likely benign	3	120647042	120647042	Human	1	name
405022030	CV2994821	single nucleotide variant	NM_000187.4(HGD):c.95C>A (p.Pro32His)	Alkaptonuria [RCV003608095]	uncertain significance	3	120674982	120674982	Human	1	name
405022761	CV3003321	single nucleotide variant	NM_000187.4(HGD):c.717A>T (p.Val239=)	Alkaptonuria [RCV003608162]	likely benign	3	120644376	120644376	Human	1	name
405013247	CV3059187	single nucleotide variant	NM_000187.4(HGD):c.633T>C (p.Pro211=)	Alkaptonuria [RCV003607062]	likely benign	3	120646283	120646283	Human	1	name
405014435	CV3075269	single nucleotide variant	NM_000187.4(HGD):c.891T>C (p.Ile297=)	Alkaptonuria [RCV003607182]	likely benign	3	120638570	120638570	Human	1	name
405159993	CV3152906	single nucleotide variant	NM_000187.4(HGD):c.852T>C (p.Val284=)	Alkaptonuria [RCV003840641]	likely benign	3	120641616	120641616	Human	1	name
405222976	CV3155017	single nucleotide variant	NM_000187.4(HGD):c.972T>G (p.Val324=)	Alkaptonuria [RCV003847513]	likely benign	3	120638489	120638489	Human	1	name
405159703	CV3159897	single nucleotide variant	NM_000187.4(HGD):c.525G>A (p.Gln175=)	Alkaptonuria [RCV003856968]	likely benign	3	120646997	120646997	Human	1	name
402480731	CV3170721	single nucleotide variant	NM_000187.4(HGD):c.666C>G (p.Ala222=)	Alkaptonuria [RCV003875923]	likely benign	3	120644427	120644427	Human	1	name
597680755	CV3723969	single nucleotide variant	NM_000187.4(HGD):c.549G>A (p.Gln183=)	Alkaptonuria [RCV005031034]	likely pathogenic	3	120646973	120646973	Human	1	name
597680793	CV3723975	single nucleotide variant	NM_000187.4(HGD):c.342T>C (p.Ser114=)	Alkaptonuria [RCV005031039]	uncertain significance	3	120652592	120652592	Human	1	name
597866579	CV3857824	single nucleotide variant	NM_000187.4(HGD):c.97C>G (p.Gln33Glu)	Alkaptonuria [RCV005196772]	uncertain significance	3	120674980	120674980	Human	1	name
598123854	CV3890465	deletion	NM_000187.4(HGD):c.113del (p.Asn38fs)	Alkaptonuria [RCV005250984]	pathogenic	3	120674964	120674964	Human	1	name
13518614	CV486330	single nucleotide variant	NM_000187.4(HGD):c.94C>T (p.Pro32Ser)	not provided [RCV000584944]	likely pathogenic\|uncertain significance	3	120674983	120674983	Human		name
15142233	CV708487	single nucleotide variant	NM_000187.4(HGD):c.711C>A (p.Arg237=)	Alkaptonuria [RCV000966448]	benign\|likely benign	3	120644382	120644382	Human	1	name
15195241	CV720098	single nucleotide variant	NM_000187.4(HGD):c.993T>C (p.Pro331=)	Alkaptonuria [RCV000889448]	likely benign	3	120638468	120638468	Human	1	name
15137508	CV733712	single nucleotide variant	NM_000187.4(HGD):c.969G>A (p.Gly323=)	Alkaptonuria [RCV000898815]	benign	3	120638492	120638492	Human	1	name
15143250	CV733713	single nucleotide variant	NM_000187.4(HGD):c.390G>T (p.Gly130=)	Alkaptonuria [RCV002068640]	likely benign	3	120650818	120650818	Human	1	name
15164386	CV747915	single nucleotide variant	NM_000187.4(HGD):c.477G>A (p.Gln159=)	Alkaptonuria [RCV002066040]	likely benign	3	120647045	120647045	Human	1	name
15147206	CV763536	single nucleotide variant	NM_000187.4(HGD):c.915T>C (p.Ser305=)	Alkaptonuria [RCV001414490]	likely benign	3	120638546	120638546	Human	1	name
15122620	CV763537	single nucleotide variant	NM_000187.4(HGD):c.732G>A (p.Thr244=)	Alkaptonuria [RCV000940713]	likely benign	3	120644361	120644361	Human	1	name
15191415	CV763538	single nucleotide variant	NM_000187.4(HGD):c.624T>C (p.Phe208=)	Alkaptonuria [RCV001427065]	likely benign	3	120646292	120646292	Human	1	name
15130549	CV781519	single nucleotide variant	NM_000187.4(HGD):c.948C>A (p.Val316=)	Alkaptonuria [RCV001500664]	likely benign	3	120638513	120638513	Human	1	name
26911061	CV857330	single nucleotide variant	NM_000187.4(HGD):c.753C>T (p.Gly251=)	Alkaptonuria [RCV001075890]	likely pathogenic	3	120644340	120644340	Human	1	name
127268910	CV1059577	single nucleotide variant	NM_000187.4(HGD):c.186T>G (p.Tyr62Ter)	Alkaptonuria [RCV001389370]	pathogenic	3	120670523	120670523	Human	1	name
127244987	CV1059578	single nucleotide variant	NM_000187.4(HGD):c.125A>C (p.Glu42Ala)	Alkaptonuria [RCV001384280]	pathogenic\|likely pathogenic	3	120674952	120674952	Human	1	name
127280661	CV1070176	single nucleotide variant	NM_000187.4(HGD):c.1335T>C (p.Asn445=)	Alkaptonuria [RCV001409938]	likely benign	3	120628383	120628383	Human	1	name
127239635	CV1070177	single nucleotide variant	NM_000187.4(HGD):c.1110C>A (p.Pro370=)	Alkaptonuria [RCV001415399]	likely benign	3	120633225	120633225	Human	1	name
127246581	CV1091921	single nucleotide variant	NM_000187.4(HGD):c.1299C>T (p.His433=)	Alkaptonuria [RCV001424537]	likely benign	3	120628419	120628419	Human	1	name
127272405	CV1091922	single nucleotide variant	NM_000187.4(HGD):c.1248C>T (p.Ser416=)	Alkaptonuria [RCV001431273]	likely benign	3	120628470	120628470	Human	1	name
127306607	CV1113420	single nucleotide variant	NM_000187.4(HGD):c.1068G>A (p.Gly356=)	Alkaptonuria [RCV001455573]	likely benign	3	120633267	120633267	Human	1	name
127337218	CV1134303	single nucleotide variant	NM_000187.4(HGD):c.1290C>T (p.Leu430=)	Alkaptonuria [RCV001492713]	likely benign	3	120628428	120628428	Human	1	name
152151526	CV1530415	single nucleotide variant	NM_000187.4(HGD):c.1080G>C (p.Gly360=)	Alkaptonuria [RCV002102302]	likely benign	3	120633255	120633255	Human	1	name
152032942	CV1542554	single nucleotide variant	NM_000187.4(HGD):c.1305T>C (p.Thr435=)	Alkaptonuria [RCV002106469]	likely benign	3	120628413	120628413	Human	1	name
152173923	CV1568695	single nucleotide variant	NM_000187.4(HGD):c.1287A>T (p.Pro429=)	Alkaptonuria [RCV002184336]	likely benign	3	120628431	120628431	Human	1	name
152172983	CV1652830	single nucleotide variant	NM_000187.4(HGD):c.1107C>A (p.Thr369=)	Alkaptonuria [RCV002143960]	likely benign	3	120633228	120633228	Human	1	name
155736009	CV1781826	deletion	NM_000187.4(HGD):c.748del (p.Gln250fs)	Alkaptonuria [RCV002309567]	likely pathogenic	3	120644345	120644345	Human	1	name
155736552	CV1782234	deletion	NM_000187.4(HGD):c.824del (p.Tyr275fs)	Alkaptonuria [RCV002309975]	likely pathogenic	3	120641644	120641644	Human	1	name
155737192	CV1784318	single nucleotide variant	NM_000187.4(HGD):c.186T>A (p.Tyr62Ter)	Alkaptonuria [RCV002310475]	likely pathogenic	3	120670523	120670523	Human	1	name
8591610	CV18208	duplication	NM_000187.4(HGD):c.457dup (p.Asp153fs)	Alkaptonuria [RCV000003319]	pathogenic	3	120647888	120647889	Human	1	name
156199586	CV1928855	deletion	NM_000187.4(HGD):c.673del (p.Arg225fs)	Alkaptonuria [RCV002643585]	pathogenic	3	120644420	120644420	Human	1	name
156393805	CV1934126	deletion	NM_000187.4(HGD):c.588del (p.Arg197fs)	Alkaptonuria [RCV002654663]	pathogenic	3	120646328	120646328	Human	1	name
156127917	CV2005573	single nucleotide variant	NM_000187.4(HGD):c.1332T>C (p.Pro444=)	Alkaptonuria [RCV002663108]	likely benign	3	120628386	120628386	Human	1	name
156107206	CV2038577	single nucleotide variant	NM_000187.4(HGD):c.109T>G (p.Tyr37Asp)	Alkaptonuria [RCV002761544]	uncertain significance	3	120674968	120674968	Human	1	name
155905469	CV2148045	deletion	NM_000187.4(HGD):c.378del (p.Lys126fs)	Alkaptonuria [RCV003011893]	pathogenic	3	120650830	120650830	Human	1	name
156129958	CV2158714	single nucleotide variant	NM_000187.4(HGD):c.1314C>T (p.Ser438=)	Alkaptonuria [RCV003022138]	likely benign	3	120628404	120628404	Human	1	name
156270421	CV2168015	deletion	NM_000187.4(HGD):c.448del (p.Ser150fs)	Alkaptonuria [RCV003026967]	pathogenic	3	120647898	120647898	Human	1	name
156335903	CV2168392	single nucleotide variant	NM_000187.4(HGD):c.278A>G (p.Asn93Ser)	Alkaptonuria [RCV003030022]	uncertain significance	3	120670431	120670431	Human	1	name
155919478	CV2254879	single nucleotide variant	NM_000187.4(HGD):c.100G>A (p.Val34Ile)	Alkaptonuria [RCV005028361]\|Inborn genetic diseases [RCV002772790]	uncertain significance	3	120674977	120674977	Human	2	name
11551027	CV250852	single nucleotide variant	NM_000187.4(HGD):c.240A>T (p.Gln80His)	Alkaptonuria [RCV000306096]\|not provided [RCV004715782]\|not specified [RCV000252512]	benign	3	120670469	120670469	Human	1	name
401783374	CV2723504	single nucleotide variant	NM_000187.4(HGD):c.199T>C (p.Ser67Pro)	Inborn genetic diseases [RCV003309513]	uncertain significance	3	120670510	120670510	Human	1	name
401860454	CV2752256	deletion	NM_000187.4(HGD):c.774+711_879+1293del	Alkaptonuria [RCV003336661]	likely pathogenic	3	120640296	120643608	Human	1	name
401860472	CV2752266	duplication	NM_000187.4(HGD):c.357dup (p.Cys120fs)	Alkaptonuria [RCV003336671]	pathogenic	3	120650850	120650851	Human	1	name
401860509	CV2752270	single nucleotide variant	NM_000187.4(HGD):c.180G>A (p.Trp60Ter)	Alkaptonuria [RCV003336675]	pathogenic	3	120670529	120670529	Human	1	name
401859555	CV2794341	single nucleotide variant	NM_000187.4(HGD):c.171G>C (p.Lys57Asn)	Alkaptonuria [RCV003387456]	pathogenic	3	120674906	120674906	Human	1	name
401859556	CV2794342	single nucleotide variant	NM_000187.4(HGD):c.174A>T (p.Arg58Ser)	Alkaptonuria [RCV003387457]	pathogenic	3	120674903	120674903	Human	1	name
401859557	CV2794343	single nucleotide variant	NM_000187.4(HGD):c.178T>G (p.Trp60Gly)	Alkaptonuria [RCV003387458]	pathogenic	3	120670531	120670531	Human	1	name
401859559	CV2794344	single nucleotide variant	NM_000187.4(HGD):c.182T>C (p.Leu61Pro)	Alkaptonuria [RCV003387459]	pathogenic	3	120670527	120670527	Human	1	name
401859561	CV2794345	single nucleotide variant	NM_000187.4(HGD):c.184T>A (p.Tyr62Asn)	Alkaptonuria [RCV003387460]	pathogenic	3	120670525	120670525	Human	1	name
401859562	CV2794346	single nucleotide variant	NM_000187.4(HGD):c.185A>G (p.Tyr62Cys)	Alkaptonuria [RCV003387461]	pathogenic	3	120670524	120670524	Human	1	name
401859564	CV2794347	single nucleotide variant	NM_000187.4(HGD):c.217T>C (p.Phe73Leu)	Alkaptonuria [RCV003387462]	pathogenic	3	120670492	120670492	Human	1	name
401859566	CV2794348	single nucleotide variant	NM_000187.4(HGD):c.274C>A (p.Pro92Thr)	Alkaptonuria [RCV003387463]	pathogenic	3	120670435	120670435	Human	1	name
401859568	CV2794349	single nucleotide variant	NM_000187.4(HGD):c.289T>C (p.Trp97Arg)	Alkaptonuria [RCV003387464]	pathogenic	3	120652645	120652645	Human	1	name
401859569	CV2794350	single nucleotide variant	NM_000187.4(HGD):c.289T>G (p.Trp97Gly)	Alkaptonuria [RCV003387465]	pathogenic\|likely pathogenic	3	120652645	120652645	Human	1	name
401859730	CV2794352	single nucleotide variant	NM_000187.4(HGD):c.291G>C (p.Trp97Cys)	Alkaptonuria [RCV003387467]	pathogenic	3	120652643	120652643	Human	1	name
401859606	CV2794374	single nucleotide variant	NM_000187.4(HGD):c.119A>C (p.Tyr40Ser)	Alkaptonuria [RCV003387489]	pathogenic	3	120674958	120674958	Human	1	name
401859607	CV2794375	single nucleotide variant	NM_000187.4(HGD):c.130C>T (p.Leu44Phe)	Alkaptonuria [RCV003387490]	pathogenic	3	120674947	120674947	Human	1	name
11590732	CV288245	single nucleotide variant	NM_000187.4(HGD):c.1191A>C (p.Ala397=)	Alkaptonuria [RCV000321626]\|not provided [RCV004715998]	benign\|likely benign	3	120628527	120628527	Human	1	name
11595017	CV289014	single nucleotide variant	NM_000187.4(HGD):c.1221G>A (p.Ala407=)	Alkaptonuria [RCV000365826]\|not provided [RCV004710916]	benign\|likely benign	3	120628497	120628497	Human	1	name
11595903	CV289017	single nucleotide variant	NM_000187.4(HGD):c.1176C>T (p.Ala392=)	Alkaptonuria [RCV000376240]	conflicting interpretations of pathogenicity\|uncertain significance	3	120633159	120633159	Human	1	name
11597975	CV289025	single nucleotide variant	NM_000187.4(HGD):c.260A>C (p.Glu87Ala)	Alkaptonuria [RCV000400316]\|not provided [RCV004716001]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	120670449	120670449	Human	1	name
405129114	CV2907960	deletion	NM_000187.4(HGD):c.398del (p.Ile133fs)	Alkaptonuria [RCV003501954]	pathogenic	3	120650810	120650810	Human	1	name
11584069	CV291939	single nucleotide variant	NM_000187.4(HGD):c.1206A>G (p.Ser402=)	Alkaptonuria [RCV000271274]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	120628512	120628512	Human	1	name
11594567	CV292100	single nucleotide variant	NM_000187.4(HGD):c.142G>T (p.Ala48Ser)	Alkaptonuria [RCV000360783]\|not provided [RCV004710917]	benign\|likely benign	3	120674935	120674935	Human	1	name
405021282	CV2979594	single nucleotide variant	NM_000187.4(HGD):c.1320C>T (p.Asn440=)	Alkaptonuria [RCV003608023]	likely benign	3	120628398	120628398	Human	1	name
405026682	CV3036189	single nucleotide variant	NM_000187.4(HGD):c.1098C>T (p.Ser366=)	Alkaptonuria [RCV003608497]	likely benign	3	120633237	120633237	Human	1	name
405026238	CV3040472	single nucleotide variant	NM_000187.4(HGD):c.1242G>A (p.Lys414=)	Alkaptonuria [RCV003608463]	likely benign	3	120628476	120628476	Human	1	name
405026736	CV3042078	single nucleotide variant	NM_000187.4(HGD):c.1110C>T (p.Pro370=)	Alkaptonuria [RCV003608501]	likely benign	3	120633225	120633225	Human	1	name
405027188	CV3054266	single nucleotide variant	NM_000187.4(HGD):c.1249A>C (p.Arg417=)	Alkaptonuria [RCV003608558]	likely benign	3	120628469	120628469	Human	1	name
405013029	CV3058695	single nucleotide variant	NM_000187.4(HGD):c.105C>A (p.Cys35Ter)	Alkaptonuria [RCV003607042]	pathogenic\|likely pathogenic	3	120674972	120674972	Human	1	name
405013150	CV3061939	single nucleotide variant	NM_000187.4(HGD):c.1191A>G (p.Ala397=)	Alkaptonuria [RCV003607053]	likely benign	3	120628527	120628527	Human	1	name
405013477	CV3066569	single nucleotide variant	NM_000187.4(HGD):c.1230G>A (p.Lys410=)	Alkaptonuria [RCV003607085]	likely benign	3	120628488	120628488	Human	1	name
405142180	CV3125963	single nucleotide variant	NM_000187.4(HGD):c.1275G>A (p.Lys425=)	Alkaptonuria [RCV003816879]	likely benign	3	120628443	120628443	Human	1	name
405198468	CV3164470	single nucleotide variant	NM_000187.4(HGD):c.255G>A (p.Trp85Ter)	Alkaptonuria [RCV003860527]	pathogenic	3	120670454	120670454	Human	1	name
405282370	CV3212800	single nucleotide variant	NM_000187.4(HGD):c.1164T>C (p.Pro388=)	HGD-related disorder [RCV003956948]	likely benign	3	120633171	120633171	Human		name , trait , alternate_id
407521875	CV3437229	single nucleotide variant	NM_000187.4(HGD):c.296C>G (p.Pro99Arg)	Alkaptonuria [RCV005038751]\|Inborn genetic diseases [RCV004630540]	uncertain significance	3	120652638	120652638	Human	2	name
12739463	CV357271	duplication	NM_000187.4(HGD):c.970dup (p.Val324fs)	Alkaptonuria [RCV000409682]	pathogenic\|likely pathogenic	3	120638490	120638491	Human	1	name
12740004	CV357272	deletion	NM_000187.4(HGD):c.956del (p.Pro319fs)	Alkaptonuria [RCV000410964]	likely pathogenic	3	120638505	120638505	Human	1	name
12740079	CV357273	duplication	NM_000187.4(HGD):c.781dup (p.Ser261fs)	Alkaptonuria [RCV000411140]	likely pathogenic	3	120641686	120641687	Human	1	name
12740084	CV357275	deletion	NM_000187.4(HGD):c.409del (p.Leu137fs)	Alkaptonuria [RCV000411150]	likely pathogenic	3	120650799	120650799	Human	1	name
12739295	CV357276	deletion	NM_000187.4(HGD):c.390del (p.Ala132fs)	Alkaptonuria [RCV000409303]	likely pathogenic	3	120650818	120650818	Human	1	name
12740160	CV357278	deletion	NM_000187.4(HGD):c.346del (p.Leu116fs)	Alkaptonuria [RCV000411315]	pathogenic\|likely pathogenic	3	120650862	120650862	Human	1	name
12739499	CV357280	single nucleotide variant	NM_000187.4(HGD):c.179G>A (p.Trp60Ter)	Alkaptonuria [RCV000409762]	pathogenic\|likely pathogenic	3	120670530	120670530	Human	1	name
12740473	CV357282	single nucleotide variant	NM_000187.4(HGD):c.158G>A (p.Arg53Gln)	Alkaptonuria [RCV000412076]\|not provided [RCV001726153]	pathogenic\|likely pathogenic	3	120674919	120674919	Human	1	name
597680650	CV3723946	deletion	NM_000187.4(HGD):c.970del (p.Val324fs)	Alkaptonuria [RCV005031020]	likely pathogenic	3	120638491	120638491	Human	1	name
597680825	CV3723981	single nucleotide variant	NM_000187.4(HGD):c.290G>A (p.Trp97Ter)	Alkaptonuria [RCV005031043]	likely pathogenic	3	120652644	120652644	Human	1	name
597680834	CV3723982	single nucleotide variant	NM_000187.4(HGD):c.227T>C (p.Ile76Thr)	Alkaptonuria [RCV005031044]	uncertain significance	3	120670482	120670482	Human	1	name
597711799	CV3723985	single nucleotide variant	NM_000187.4(HGD):c.169A>T (p.Lys57Ter)	Alkaptonuria [RCV005034906]	likely pathogenic	3	120674908	120674908	Human	1	name
597680857	CV3723986	single nucleotide variant	NM_000187.4(HGD):c.157C>G (p.Arg53Gly)	Alkaptonuria [RCV005031047]	likely pathogenic	3	120674920	120674920	Human	1	name
597711809	CV3723987	single nucleotide variant	NM_000187.4(HGD):c.120T>A (p.Tyr40Ter)	Alkaptonuria [RCV005034907]	likely pathogenic	3	120674957	120674957	Human	1	name
597680873	CV3723988	single nucleotide variant	NM_000187.4(HGD):c.110A>T (p.Tyr37Phe)	Alkaptonuria [RCV005031049]	uncertain significance	3	120674967	120674967	Human	1	name
597962386	CV3809161	single nucleotide variant	NM_000187.4(HGD):c.1224C>T (p.Val408=)	Alkaptonuria [RCV005164063]	likely benign	3	120628494	120628494	Human	1	name
597855779	CV3849604	single nucleotide variant	NM_000187.4(HGD):c.1167G>A (p.Glu389=)	Alkaptonuria [RCV005195111]	likely benign	3	120633168	120633168	Human	1	name
597937859	CV3852696	single nucleotide variant	NM_000187.4(HGD):c.1236A>G (p.Gly412=)	Alkaptonuria [RCV005187095]	likely benign	3	120628482	120628482	Human	1	name
13216527	CV431010	single nucleotide variant	NM_000187.4(HGD):c.189G>T (p.Arg63Ser)	Alkaptonuria [RCV000503877]\|See cases [RCV004584392]	pathogenic	3	120670520	120670520	Human	1	name
15107622	CV720097	single nucleotide variant	NM_000187.4(HGD):c.1080G>A (p.Gly360=)	Alkaptonuria [RCV000893514]\|HGD-related disorder [RCV003920796]	likely benign	3	120633255	120633255	Human	2	name , trait , alternate_id
15165003	CV720100	single nucleotide variant	NM_000187.4(HGD):c.221A>T (p.Glu74Val)	Alkaptonuria [RCV000882319]\|not provided [RCV003225134]	benign\|likely benign\|uncertain significance	3	120670488	120670488	Human	1	name
8621798	CV76482	single nucleotide variant	NM_000187.4(HGD):c.140C>T (p.Ser47Leu)	Alkaptonuria [RCV003387491]	pathogenic\|likely pathogenic	3	120674937	120674937	Human	1	name
26921520	CV827322	single nucleotide variant	NM_000187.4(HGD):c.291G>A (p.Trp97Ter)	Alkaptonuria [RCV001061073]	pathogenic\|likely pathogenic	3	120652643	120652643	Human	1	name
28872533	CV887708	single nucleotide variant	NM_000187.4(HGD):c.1266C>T (p.Asn422=)	Alkaptonuria [RCV001146326]	conflicting interpretations of pathogenicity\|uncertain significance	3	120628452	120628452	Human	1	name
28879876	CV887709	single nucleotide variant	NM_000187.4(HGD):c.1179T>C (p.Asp393=)	Alkaptonuria [RCV001149126]\|HGD-related disorder [RCV004751894]\|not provided [RCV004716678]	benign\|likely benign	3	120633156	120633156	Human	2	name , trait , alternate_id
34888575	CV917800	single nucleotide variant	NM_000187.4(HGD):c.131T>C (p.Leu44Pro)	Alkaptonuria [RCV001194657]	likely pathogenic	3	120674946	120674946	Human	1	name
34888573	CV917801	single nucleotide variant	NM_000187.4(HGD):c.127C>G (p.Gln43Glu)	Alkaptonuria [RCV001194656]	likely pathogenic	3	120674950	120674950	Human	1	name
38495772	CV953298	single nucleotide variant	NM_000187.4(HGD):c.157C>T (p.Arg53Trp)	Alkaptonuria [RCV001242145]	likely pathogenic\|uncertain significance	3	120674920	120674920	Human	1	name
127230278	CV1053838	single nucleotide variant	NM_000187.4(HGD):c.367G>A (p.Gly123Arg)	Alkaptonuria [RCV001376082]	pathogenic\|likely pathogenic	3	120650841	120650841	Human	1	name
127230350	CV1053861	single nucleotide variant	NM_000187.4(HGD):c.566G>T (p.Ser189Ile)	Alkaptonuria [RCV001376105]	likely pathogenic	3	120646350	120646350	Human	1	name
127245513	CV1059571	deletion	NM_000187.4(HGD):c.1288del (p.Leu430fs)	Alkaptonuria [RCV001384371]	pathogenic	3	120628430	120628430	Human	1	name
127270595	CV1059573	deletion	NM_000187.4(HGD):c.1185del (p.Met396fs)	Alkaptonuria [RCV001389892]	pathogenic	3	120633150	120633150	Human	1	name
127262594	CV1059574	deletion	NM_000187.4(HGD):c.1019del (p.Ser340fs)	Alkaptonuria [RCV001380758]	pathogenic	3	120633316	120633316	Human		name
127269935	CV1059576	single nucleotide variant	NM_000187.4(HGD):c.583G>T (p.Glu195Ter)	Alkaptonuria [RCV001389681]	pathogenic\|likely pathogenic	3	120646333	120646333	Human	1	name
150338308	CV1174032	single nucleotide variant	NM_000187.4(HGD):c.343G>C (p.Gly115Arg)	Alkaptonuria [RCV001542260]	likely pathogenic	3	120650865	120650865	Human	1	name
151232363	CV1254247	deletion	NM_000187.4(HGD):c.1031del (p.Gly344fs)	Alkaptonuria [RCV001799114]	pathogenic	3	120633304	120633304	Human	1	name
151232367	CV1254250	single nucleotide variant	NM_000187.4(HGD):c.587C>T (p.Thr196Ile)	Alkaptonuria [RCV001799117]	likely pathogenic\|uncertain significance	3	120646329	120646329	Human	1	name
151736188	CV1351341	single nucleotide variant	NM_000187.4(HGD):c.502G>T (p.Glu168Ter)	Alkaptonuria [RCV002021839]	pathogenic	3	120647020	120647020	Human	1	name
151877509	CV1368863	single nucleotide variant	NM_000187.4(HGD):c.821C>T (p.Pro274Leu)	Alkaptonuria [RCV001999116]	likely pathogenic	3	120641647	120641647	Human	1	name
151750184	CV1381079	single nucleotide variant	NM_000187.4(HGD):c.673C>T (p.Arg225Cys)	Alkaptonuria [RCV002023302]	likely pathogenic	3	120644420	120644420	Human	1	name
151754573	CV1391368	single nucleotide variant	NM_000187.4(HGD):c.447T>A (p.Asn149Lys)	Alkaptonuria [RCV001969541]	uncertain significance	3	120647899	120647899	Human	1	name
151804626	CV1424851	deletion	NM_000187.4(HGD):c.1245del (p.Ser416fs)	Alkaptonuria [RCV001867438]	pathogenic	3	120628473	120628473	Human	1	name
151885677	CV1445031	deletion	NM_000187.4(HGD):c.1111del (p.His371fs)	Alkaptonuria [RCV001941999]	pathogenic	3	120633224	120633224	Human	1	name
151781351	CV1468870	single nucleotide variant	NM_000187.4(HGD):c.368G>A (p.Gly123Glu)	Alkaptonuria [RCV002026291]	likely pathogenic\|conflicting interpretations of pathogenicity	3	120650840	120650840	Human	1	name
151861908	CV1474114	single nucleotide variant	NM_000187.4(HGD):c.359G>T (p.Cys120Phe)	Alkaptonuria [RCV001884025]	pathogenic	3	120650849	120650849	Human	1	name
151757403	CV1510048	single nucleotide variant	NM_000187.4(HGD):c.967G>A (p.Gly323Arg)	Alkaptonuria [RCV001928123]\|Inborn genetic diseases [RCV002555792]	uncertain significance	3	120638494	120638494	Human	2	name
153000878	CV1683904	single nucleotide variant	NM_000187.4(HGD):c.532G>T (p.Glu178Ter)	Alkaptonuria [RCV003989139]\|HGD-related disorder [RCV003943328]\|not provided [RCV002254498]	pathogenic\|likely pathogenic	3	120646990	120646990	Human	2	name , trait , alternate_id
155722389	CV1781434	single nucleotide variant	NM_000187.4(HGD):c.747C>A (p.Tyr249Ter)	Alkaptonuria [RCV002306462]	likely pathogenic	3	120644346	120644346	Human	1	name
155722504	CV1781454	single nucleotide variant	NM_000187.4(HGD):c.662T>A (p.Leu221Ter)	Alkaptonuria [RCV002306482]	likely pathogenic	3	120644431	120644431	Human	1	name
8596036	CV18204	single nucleotide variant	NM_000187.4(HGD):c.688C>T (p.Pro230Ser)	Alkaptonuria [RCV000003315]	pathogenic	3	120644405	120644405	Human	1	name
8596037	CV18205	single nucleotide variant	NM_000187.4(HGD):c.899T>G (p.Val300Gly)	Alkaptonuria [RCV000003316]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	120638562	120638562	Human	1	name
8591608	CV18206	single nucleotide variant	NM_000187.4(HGD):c.990G>T (p.Arg330Ser)	Alkaptonuria [RCV000003317]	pathogenic\|uncertain significance	3	120638471	120638471	Human	1	name
8591609	CV18207	single nucleotide variant	NM_000187.4(HGD):c.481G>A (p.Gly161Arg)	Alkaptonuria [RCV000003318]\|not provided [RCV001725928]	pathogenic	3	120647041	120647041	Human	1	name
8591616	CV18214	single nucleotide variant	NM_000187.4(HGD):c.808G>A (p.Gly270Arg)	Alkaptonuria [RCV000003325]	pathogenic\|likely pathogenic	3	120641660	120641660	Human	1	name
10041618	CV186670	single nucleotide variant	NM_000187.4(HGD):c.674G>A (p.Arg225His)	Alkaptonuria [RCV000169601]	pathogenic\|likely pathogenic	3	120644419	120644419	Human	1	name
10041448	CV186672	single nucleotide variant	NM_000187.4(HGD):c.365C>T (p.Ala122Val)	Alkaptonuria [RCV000169217]	pathogenic\|likely pathogenic	3	120650843	120650843	Human	1	name
156308305	CV1877941	single nucleotide variant	NM_000187.4(HGD):c.401A>G (p.His134Arg)	Alkaptonuria [RCV003062304]	uncertain significance	3	120650807	120650807	Human	1	name
156318344	CV1900113	single nucleotide variant	NM_000187.4(HGD):c.931G>A (p.Ala311Thr)	Alkaptonuria [RCV003088849]	uncertain significance	3	120638530	120638530	Human	1	name
156413824	CV1901102	single nucleotide variant	NM_000187.4(HGD):c.518T>A (p.Leu173His)	Alkaptonuria [RCV002588284]	uncertain significance	3	120647004	120647004	Human	1	name
156362263	CV1934698	single nucleotide variant	NM_000187.4(HGD):c.961C>T (p.Arg321Ter)	Alkaptonuria [RCV002651719]	pathogenic	3	120638500	120638500	Human	1	name
156208517	CV2000792	single nucleotide variant	NM_000187.4(HGD):c.898G>C (p.Val300Leu)	Alkaptonuria [RCV002666755]	likely pathogenic	3	120638563	120638563	Human	1	name
156286632	CV2036697	single nucleotide variant	NM_000187.4(HGD):c.699G>A (p.Trp233Ter)	Alkaptonuria [RCV002770588]	pathogenic	3	120644394	120644394	Human	1	name
156117740	CV2055141	duplication	NM_000187.4(HGD):c.1112dup (p.His371fs)	Alkaptonuria [RCV002825176]	pathogenic	3	120633222	120633223	Human	1	name
156101861	CV2103581	single nucleotide variant	NM_000187.4(HGD):c.541G>A (p.Val181Ile)	Alkaptonuria [RCV002927077]	uncertain significance	3	120646981	120646981	Human	1	name
155993413	CV2147752	single nucleotide variant	NM_000187.4(HGD):c.482G>A (p.Gly161Glu)	Alkaptonuria [RCV003016938]	likely pathogenic	3	120647040	120647040	Human	1	name
156312269	CV2165604	single nucleotide variant	NM_000187.4(HGD):c.820C>A (p.Pro274Thr)	Alkaptonuria [RCV003028652]	likely pathogenic	3	120641648	120641648	Human	1	name
329387939	CV2468494	single nucleotide variant	NM_000187.4(HGD):c.863T>A (p.Val288Glu)	Inborn genetic diseases [RCV003215513]	uncertain significance	3	120641605	120641605	Human	1	name
329951881	CV2671528	single nucleotide variant	NM_000187.4(HGD):c.518T>C (p.Leu173Pro)	Alkaptonuria [RCV003236750]	uncertain significance	3	120647004	120647004	Human	1	name
401797308	CV2742134	single nucleotide variant	NM_000187.4(HGD):c.898G>T (p.Val300Leu)	Alkaptonuria [RCV005036740]\|not specified [RCV003324312]	uncertain significance	3	120638563	120638563	Human	1	name
401860504	CV2752268	deletion	NM_000187.4(HGD):c.1016del (p.Met339fs)	Alkaptonuria [RCV003336673]	pathogenic	3	120633319	120633319	Human	1	name
401860512	CV2752271	single nucleotide variant	NM_000187.4(HGD):c.433A>T (p.Arg145Ter)	Alkaptonuria [RCV003336676]	pathogenic	3	120650775	120650775	Human	1	name
401860514	CV2752272	single nucleotide variant	NM_000187.4(HGD):c.860C>A (p.Ser287Ter)	Alkaptonuria [RCV003336677]	pathogenic	3	120641608	120641608	Human	1	name
401859573	CV2794353	single nucleotide variant	NM_000187.4(HGD):c.299T>C (p.Phe100Ser)	Alkaptonuria [RCV003387468]	pathogenic	3	120652635	120652635	Human	1	name
401859574	CV2794354	single nucleotide variant	NM_000187.4(HGD):c.334T>G (p.Phe112Val)	Alkaptonuria [RCV003387469]	pathogenic\|likely pathogenic	3	120652600	120652600	Human	1	name
401859576	CV2794355	single nucleotide variant	NM_000187.4(HGD):c.335T>C (p.Phe112Ser)	Alkaptonuria [RCV003387470]	pathogenic	3	120652599	120652599	Human	1	name
401859577	CV2794356	single nucleotide variant	NM_000187.4(HGD):c.362G>A (p.Gly121Glu)	Alkaptonuria [RCV003387471]	pathogenic	3	120650846	120650846	Human	1	name
401859579	CV2794357	single nucleotide variant	NM_000187.4(HGD):c.365C>A (p.Ala122Asp)	Alkaptonuria [RCV003387472]	pathogenic	3	120650843	120650843	Human	1	name
401859582	CV2794359	single nucleotide variant	NM_000187.4(HGD):c.368G>C (p.Gly123Ala)	Alkaptonuria [RCV003387474]	pathogenic	3	120650840	120650840	Human	1	name
401859584	CV2794360	single nucleotide variant	NM_000187.4(HGD):c.407T>A (p.Phe136Tyr)	Alkaptonuria [RCV003387475]	pathogenic	3	120650801	120650801	Human	1	name
401859585	CV2794361	single nucleotide variant	NM_000187.4(HGD):c.440T>C (p.Phe147Ser)	Alkaptonuria [RCV003387476]	pathogenic	3	120647906	120647906	Human	1	name
401859587	CV2794362	single nucleotide variant	NM_000187.4(HGD):c.449C>T (p.Ser150Leu)	Alkaptonuria [RCV003387477]	pathogenic	3	120647897	120647897	Human	1	name
401859589	CV2794363	single nucleotide variant	NM_000187.4(HGD):c.457G>A (p.Asp153Asn)	Alkaptonuria [RCV003387478]	pathogenic	3	120647889	120647889	Human	1	name
401859590	CV2794364	single nucleotide variant	NM_000187.4(HGD):c.469G>T (p.Val157Phe)	Alkaptonuria [RCV003387479]	pathogenic	3	120647877	120647877	Human	1	name
401859591	CV2794365	single nucleotide variant	NM_000187.4(HGD):c.458A>G (p.Asp153Gly)	Alkaptonuria [RCV003387480]	pathogenic	3	120647888	120647888	Human	1	name
401859594	CV2794366	single nucleotide variant	NM_000187.4(HGD):c.473C>G (p.Pro158Arg)	Alkaptonuria [RCV003387481]	pathogenic	3	120647049	120647049	Human	1	name
401859595	CV2794367	single nucleotide variant	NM_000187.4(HGD):c.504G>C (p.Glu168Asp)	Alkaptonuria [RCV003387482]	pathogenic\|likely pathogenic	3	120647018	120647018	Human	1	name
401859599	CV2794370	single nucleotide variant	NM_000187.4(HGD):c.500C>T (p.Thr167Ile)	Alkaptonuria [RCV003387485]	pathogenic	3	120647022	120647022	Human	1	name
401859603	CV2794373	single nucleotide variant	NM_000187.4(HGD):c.454G>A (p.Gly152Arg)	Alkaptonuria [RCV003387488]	pathogenic	3	120647892	120647892	Human	1	name
401915259	CV2795192	single nucleotide variant	NM_000187.4(HGD):c.508G>A (p.Gly170Ser)	Alkaptonuria [RCV003388974]	pathogenic	3	120647014	120647014	Human	1	name
401915266	CV2795194	single nucleotide variant	NM_000187.4(HGD):c.533A>G (p.Glu178Gly)	Alkaptonuria [RCV003388976]	pathogenic	3	120646989	120646989	Human	1	name
401915269	CV2795195	single nucleotide variant	NM_000187.4(HGD):c.589A>G (p.Arg197Gly)	Alkaptonuria [RCV003388977]\|not specified [RCV004587488]	pathogenic\|uncertain significance	3	120646327	120646327	Human	1	name
401915272	CV2795196	single nucleotide variant	NM_000187.4(HGD):c.656A>G (p.Asn219Ser)	Alkaptonuria [RCV003388978]	pathogenic	3	120644437	120644437	Human	1	name
401915276	CV2795197	single nucleotide variant	NM_000187.4(HGD):c.828G>C (p.Lys276Asn)	Alkaptonuria [RCV003388979]\|not specified [RCV005406676]	pathogenic\|uncertain significance	3	120641640	120641640	Human	1	name
401915281	CV2795199	single nucleotide variant	NM_000187.4(HGD):c.557T>A (p.Met186Lys)	Alkaptonuria [RCV003388981]	pathogenic\|likely pathogenic	3	120646359	120646359	Human	1	name
401915282	CV2795200	single nucleotide variant	NM_000187.4(HGD):c.509G>C (p.Gly170Ala)	Alkaptonuria [RCV003388982]	pathogenic	3	120647013	120647013	Human	1	name
401915285	CV2795201	single nucleotide variant	NM_000187.4(HGD):c.614G>A (p.Gly205Asp)	Alkaptonuria [RCV003388983]	pathogenic	3	120646302	120646302	Human	1	name
401915290	CV2795203	single nucleotide variant	NM_000187.4(HGD):c.515T>C (p.Met172Thr)	Alkaptonuria [RCV003388985]	pathogenic	3	120647007	120647007	Human	1	name
401915292	CV2795204	single nucleotide variant	NM_000187.4(HGD):c.674G>C (p.Arg225Pro)	Alkaptonuria [RCV003388986]	pathogenic\|likely pathogenic	3	120644419	120644419	Human	1	name
401915294	CV2795205	single nucleotide variant	NM_000187.4(HGD):c.733G>T (p.Val245Phe)	Alkaptonuria [RCV003388987]	pathogenic	3	120644360	120644360	Human	1	name
401915300	CV2795207	single nucleotide variant	NM_000187.4(HGD):c.513G>T (p.Lys171Asn)	Alkaptonuria [RCV003388989]	pathogenic	3	120647009	120647009	Human	1	name
401915302	CV2795208	single nucleotide variant	NM_000187.4(HGD):c.674G>T (p.Arg225Leu)	Alkaptonuria [RCV003388990]	pathogenic	3	120644419	120644419	Human	1	name
401915305	CV2795209	single nucleotide variant	NM_000187.4(HGD):c.773A>C (p.Gln258Pro)	Alkaptonuria [RCV003388991]	pathogenic	3	120644320	120644320	Human	1	name
401915307	CV2795210	single nucleotide variant	NM_000187.4(HGD):c.553G>A (p.Gly185Arg)	Alkaptonuria [RCV003388992]	pathogenic	3	120646363	120646363	Human	1	name
401915309	CV2795211	single nucleotide variant	NM_000187.4(HGD):c.914C>T (p.Ser305Phe)	Alkaptonuria [RCV003388993]	pathogenic	3	120638547	120638547	Human	1	name
401915313	CV2795213	single nucleotide variant	NM_000187.4(HGD):c.549G>T (p.Gln183His)	Alkaptonuria [RCV003388995]\|not specified [RCV004526984]	pathogenic\|likely pathogenic\|uncertain significance	3	120646973	120646973	Human	1	name
401915317	CV2795214	single nucleotide variant	NM_000187.4(HGD):c.649G>T (p.Gly217Trp)	Alkaptonuria [RCV003388996]	pathogenic	3	120646267	120646267	Human	1	name
401915320	CV2795215	single nucleotide variant	NM_000187.4(HGD):c.806A>G (p.His269Arg)	Alkaptonuria [RCV003388997]	pathogenic	3	120641662	120641662	Human	1	name
401915325	CV2795217	single nucleotide variant	NM_000187.4(HGD):c.962G>A (p.Arg321Gln)	Alkaptonuria [RCV003388999]	pathogenic	3	120638499	120638499	Human	1	name
401915327	CV2795218	single nucleotide variant	NM_000187.4(HGD):c.791A>G (p.Asn264Ser)	Alkaptonuria [RCV003389000]	pathogenic	3	120641677	120641677	Human	1	name
401915329	CV2795219	single nucleotide variant	NM_000187.4(HGD):c.614G>T (p.Gly205Val)	Alkaptonuria [RCV003389001]	pathogenic	3	120646302	120646302	Human	1	name
401915332	CV2795220	single nucleotide variant	NM_000187.4(HGD):c.742A>G (p.Lys248Glu)	Alkaptonuria [RCV003389002]	pathogenic	3	120644351	120644351	Human	1	name
401915335	CV2795221	single nucleotide variant	NM_000187.4(HGD):c.541G>T (p.Val181Phe)	Alkaptonuria [RCV003389003]	pathogenic	3	120646981	120646981	Human	1	name
401915338	CV2795222	single nucleotide variant	NM_000187.4(HGD):c.875A>G (p.His292Arg)	Alkaptonuria [RCV003389004]	pathogenic	3	120641593	120641593	Human	1	name
401915339	CV2795223	single nucleotide variant	NM_000187.4(HGD):c.964T>C (p.Trp322Arg)	Alkaptonuria [RCV003389005]	pathogenic	3	120638497	120638497	Human	1	name
401915342	CV2795224	single nucleotide variant	NM_000187.4(HGD):c.593G>A (p.Gly198Asp)	Alkaptonuria [RCV003389006]	pathogenic	3	120646323	120646323	Human	1	name
401915344	CV2795225	single nucleotide variant	NM_000187.4(HGD):c.800C>T (p.Ala267Val)	Alkaptonuria [RCV003389007]	pathogenic	3	120641668	120641668	Human	1	name
401915347	CV2795226	single nucleotide variant	NM_000187.4(HGD):c.647T>C (p.Ile216Thr)	Alkaptonuria [RCV003389008]	pathogenic	3	120646269	120646269	Human	1	name
401915349	CV2795227	single nucleotide variant	NM_000187.4(HGD):c.688C>A (p.Pro230Thr)	Alkaptonuria [RCV003389009]	pathogenic	3	120644405	120644405	Human	1	name
401915353	CV2795228	single nucleotide variant	NM_000187.4(HGD):c.873C>A (p.Asp291Glu)	Alkaptonuria [RCV003389010]	pathogenic	3	120641595	120641595	Human	1	name
401915774	CV2795229	single nucleotide variant	NM_000187.4(HGD):c.990G>C (p.Arg330Ser)	Alkaptonuria [RCV003389011]	pathogenic	3	120638471	120638471	Human	1	name
401915358	CV2795230	single nucleotide variant	NM_000187.4(HGD):c.659G>T (p.Gly220Val)	Alkaptonuria [RCV003389012]	pathogenic	3	120644434	120644434	Human	1	name
401915360	CV2795231	single nucleotide variant	NM_000187.4(HGD):c.787T>C (p.Phe263Leu)	Alkaptonuria [RCV003389013]	pathogenic	3	120641681	120641681	Human	1	name
401915363	CV2795232	single nucleotide variant	NM_000187.4(HGD):c.815A>G (p.Tyr272Cys)	Alkaptonuria [RCV003389014]	pathogenic	3	120641653	120641653	Human	1	name
401915369	CV2795234	single nucleotide variant	NM_000187.4(HGD):c.832A>G (p.Asn278Asp)	Alkaptonuria [RCV003389016]	likely pathogenic	3	120641636	120641636	Human	1	name
401915371	CV2795235	single nucleotide variant	NM_000187.4(HGD):c.679T>C (p.Phe227Leu)	Alkaptonuria [RCV003389017]	pathogenic	3	120644414	120644414	Human	1	name
401915373	CV2795236	single nucleotide variant	NM_000187.4(HGD):c.995C>G (p.Pro332Arg)	Alkaptonuria [RCV003389018]	pathogenic	3	120638466	120638466	Human	1	name
401915376	CV2795237	single nucleotide variant	NM_000187.4(HGD):c.946G>A (p.Val316Ile)	Alkaptonuria [RCV003389019]	pathogenic	3	120638515	120638515	Human	1	name
401915386	CV2795240	single nucleotide variant	NM_000187.4(HGD):c.986T>G (p.Phe329Cys)	Alkaptonuria [RCV003389022]	pathogenic	3	120638475	120638475	Human	1	name
401915394	CV2795243	single nucleotide variant	NM_000187.4(HGD):c.410T>C (p.Leu137Pro)	Alkaptonuria [RCV003389025]	pathogenic	3	120650798	120650798	Human	1	name
401962191	CV2844776	single nucleotide variant	NM_000187.4(HGD):c.926G>T (p.Gly309Val)	Alkaptonuria [RCV003482188]	pathogenic	3	120638535	120638535	Human	1	name
11595618	CV288246	single nucleotide variant	NM_000187.4(HGD):c.920G>A (p.Arg307His)	Alkaptonuria [RCV000372412]\|Inborn genetic diseases [RCV005348111]	uncertain significance	3	120638541	120638541	Human	2	name
11594446	CV289024	single nucleotide variant	NM_000187.4(HGD):c.307C>A (p.Pro103Thr)	Alkaptonuria [RCV000359600]	conflicting interpretations of pathogenicity\|uncertain significance	3	120652627	120652627	Human	1	name
405116116	CV2914359	single nucleotide variant	NM_000187.4(HGD):c.499A>G (p.Thr167Ala)	Alkaptonuria [RCV003500142]	uncertain significance	3	120647023	120647023	Human	1	name
11590310	CV291940	single nucleotide variant	NM_000187.4(HGD):c.923C>G (p.Pro308Arg)	Alkaptonuria [RCV000317723]	uncertain significance	3	120638538	120638538	Human	1	name
11590398	CV292082	single nucleotide variant	NM_000187.4(HGD):c.835C>A (p.Leu279Met)	Alkaptonuria [RCV000318860]	uncertain significance	3	120641633	120641633	Human	1	name
11587184	CV292087	single nucleotide variant	NM_000187.4(HGD):c.567C>G (p.Ser189Arg)	Alkaptonuria [RCV000293214]	uncertain significance	3	120646349	120646349	Human	1	name
405018655	CV2952852	single nucleotide variant	NM_000187.4(HGD):c.702T>G (p.Tyr234Ter)	Alkaptonuria [RCV003607764]	pathogenic	3	120644391	120644391	Human	1	name
405709212	CV3225544	single nucleotide variant	NM_000187.4(HGD):c.804G>C (p.Trp268Cys)	Alkaptonuria [RCV003990601]	likely pathogenic	3	120641664	120641664	Human	1	name
405777317	CV3270033	single nucleotide variant	NM_000187.4(HGD):c.455G>A (p.Gly152Glu)	Inborn genetic diseases [RCV004396950]	uncertain significance	3	120647891	120647891	Human	1	name
407521877	CV3437230	single nucleotide variant	NM_000187.4(HGD):c.926G>A (p.Gly309Glu)	Inborn genetic diseases [RCV004630541]	uncertain significance	3	120638535	120638535	Human	1	name
407521879	CV3437231	single nucleotide variant	NM_000187.4(HGD):c.715G>A (p.Val239Ile)	Inborn genetic diseases [RCV004630542]	uncertain significance	3	120644378	120644378	Human	1	name
596945929	CV3550302	single nucleotide variant	NM_000187.4(HGD):c.998A>C (p.Tyr333Ser)	Alkaptonuria [RCV004818841]	uncertain significance	3	120638463	120638463	Human	1	name
12740132	CV357269	duplication	NM_000187.4(HGD):c.1064dup (p.Gly356fs)	Alkaptonuria [RCV000411251]	likely pathogenic	3	120633270	120633271	Human	1	name
597629422	CV3685706	single nucleotide variant	NM_000187.4(HGD):c.340A>C (p.Ser114Arg)	Alkaptonuria [RCV005038910]\|Inborn genetic diseases [RCV004985805]	uncertain significance	3	120652594	120652594	Human	2	name
597693119	CV3685707	single nucleotide variant	NM_000187.4(HGD):c.751G>C (p.Gly251Arg)	Inborn genetic diseases [RCV004985806]	uncertain significance	3	120644342	120644342	Human	1	name
597711680	CV3723947	single nucleotide variant	NM_000187.4(HGD):c.965G>A (p.Trp322Ter)	Alkaptonuria [RCV005034894]	likely pathogenic	3	120638496	120638496	Human	1	name
597680657	CV3723948	single nucleotide variant	NM_000187.4(HGD):c.949A>G (p.Ile317Val)	Alkaptonuria [RCV005031021]	uncertain significance	3	120638512	120638512	Human	1	name
597711690	CV3723949	single nucleotide variant	NM_000187.4(HGD):c.947T>C (p.Val316Ala)	Alkaptonuria [RCV005034895]\|Inborn genetic diseases [RCV005353374]	uncertain significance	3	120638514	120638514	Human	2	name
597711703	CV3723950	single nucleotide variant	NM_000187.4(HGD):c.946G>T (p.Val316Phe)	Alkaptonuria [RCV005034896]	uncertain significance	3	120638515	120638515	Human	1	name
597680665	CV3723951	single nucleotide variant	NM_000187.4(HGD):c.922C>T (p.Pro308Ser)	Alkaptonuria [RCV005031022]	uncertain significance	3	120638539	120638539	Human	1	name
597680672	CV3723952	single nucleotide variant	NM_000187.4(HGD):c.907G>A (p.Ala303Thr)	Alkaptonuria [RCV005031023]	uncertain significance	3	120638554	120638554	Human	1	name
597711713	CV3723953	single nucleotide variant	NM_000187.4(HGD):c.895A>G (p.Thr299Ala)	Alkaptonuria [RCV005034897]	uncertain significance	3	120638566	120638566	Human	1	name
597711721	CV3723957	single nucleotide variant	NM_000187.4(HGD):c.847A>G (p.Met283Val)	Alkaptonuria [RCV005034898]	uncertain significance	3	120641621	120641621	Human	1	name
597711731	CV3723958	single nucleotide variant	NM_000187.4(HGD):c.831C>G (p.Tyr277Ter)	Alkaptonuria [RCV005034899]	likely pathogenic	3	120641637	120641637	Human	1	name
597680702	CV3723960	single nucleotide variant	NM_000187.4(HGD):c.766G>T (p.Ala256Ser)	Alkaptonuria [RCV005031027]	uncertain significance	3	120644327	120644327	Human	1	name
597680710	CV3723961	single nucleotide variant	NM_000187.4(HGD):c.689C>G (p.Pro230Arg)	Alkaptonuria [RCV005031028]	likely pathogenic	3	120644404	120644404	Human	1	name
597680719	CV3723962	single nucleotide variant	NM_000187.4(HGD):c.685A>G (p.Ile229Val)	Alkaptonuria [RCV005031029]	uncertain significance	3	120644408	120644408	Human	1	name
597680726	CV3723963	single nucleotide variant	NM_000187.4(HGD):c.671C>T (p.Pro224Leu)	Alkaptonuria [RCV005031030]	uncertain significance	3	120644422	120644422	Human	1	name
597711749	CV3723964	single nucleotide variant	NM_000187.4(HGD):c.668A>G (p.Asn223Ser)	Alkaptonuria [RCV005034901]	uncertain significance	3	120644425	120644425	Human	1	name
597680734	CV3723965	single nucleotide variant	NM_000187.4(HGD):c.658G>A (p.Gly220Ser)	Alkaptonuria [RCV005031031]	uncertain significance	3	120644435	120644435	Human	1	name
597680742	CV3723966	single nucleotide variant	NM_000187.4(HGD):c.611A>G (p.Tyr204Cys)	Alkaptonuria [RCV005031032]	uncertain significance	3	120646305	120646305	Human	1	name
597680748	CV3723967	single nucleotide variant	NM_000187.4(HGD):c.587C>A (p.Thr196Asn)	Alkaptonuria [RCV005031033]	uncertain significance	3	120646329	120646329	Human	1	name
597712339	CV3723968	single nucleotide variant	NM_000187.4(HGD):c.572A>G (p.Asp191Gly)	Alkaptonuria [RCV005034902]	uncertain significance	3	120646344	120646344	Human	1	name
597680762	CV3723970	single nucleotide variant	NM_000187.4(HGD):c.518T>G (p.Leu173Arg)	Alkaptonuria [RCV005031035]	uncertain significance	3	120647004	120647004	Human	1	name
597680771	CV3723971	single nucleotide variant	NM_000187.4(HGD):c.446A>G (p.Asn149Ser)	Alkaptonuria [RCV005031036]	uncertain significance	3	120647900	120647900	Human	1	name
597680778	CV3723972	single nucleotide variant	NM_000187.4(HGD):c.419C>A (p.Thr140Asn)	Alkaptonuria [RCV005031037]	uncertain significance	3	120650789	120650789	Human	1	name
597680785	CV3723973	single nucleotide variant	NM_000187.4(HGD):c.384C>A (p.Asn128Lys)	Alkaptonuria [RCV005031038]	uncertain significance	3	120650824	120650824	Human	1	name
597711769	CV3723974	single nucleotide variant	NM_000187.4(HGD):c.349C>A (p.His117Asn)	Alkaptonuria [RCV005034903]	uncertain significance	3	120650859	120650859	Human	1	name
597680799	CV3723976	single nucleotide variant	NM_000187.4(HGD):c.341G>C (p.Ser114Thr)	Alkaptonuria [RCV005031040]	uncertain significance	3	120652593	120652593	Human	1	name
597680806	CV3723977	single nucleotide variant	NM_000187.4(HGD):c.323A>G (p.Lys108Arg)	Alkaptonuria [RCV005031041]	uncertain significance	3	120652611	120652611	Human	1	name
597680817	CV3723978	single nucleotide variant	NM_000187.4(HGD):c.319C>T (p.Gln107Ter)	Alkaptonuria [RCV005031042]	likely pathogenic	3	120652615	120652615	Human	1	name
597711787	CV3723980	single nucleotide variant	NM_000187.4(HGD):c.301G>C (p.Glu101Gln)	Alkaptonuria [RCV005034905]	uncertain significance	3	120652633	120652633	Human	1	name
597874642	CV3747460	single nucleotide variant	NM_000187.4(HGD):c.424A>G (p.Met142Val)	Alkaptonuria [RCV005069144]	uncertain significance	3	120650784	120650784	Human	1	name
597862437	CV3822661	single nucleotide variant	NM_000187.4(HGD):c.803G>A (p.Trp268Ter)	Alkaptonuria [RCV005175192]	pathogenic	3	120641665	120641665	Human	1	name
598177355	CV3978712	single nucleotide variant	NM_000187.4(HGD):c.847A>T (p.Met283Leu)	Inborn genetic diseases [RCV005351818]	uncertain significance	3	120641621	120641621	Human	1	name
598177358	CV3978713	single nucleotide variant	NM_000187.4(HGD):c.422C>T (p.Ser141Phe)	Inborn genetic diseases [RCV005351819]	uncertain significance	3	120650786	120650786	Human	1	name
13607146	CV518931	single nucleotide variant	NM_000187.4(HGD):c.709C>T (p.Arg237Cys)	Alkaptonuria [RCV000627810]	uncertain significance	3	120644384	120644384	Human	1	name
13782537	CV542750	single nucleotide variant	NM_000187.4(HGD):c.473C>T (p.Pro158Leu)	Alkaptonuria [RCV000668985]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	120647049	120647049	Human	1	name
13785346	CV542899	single nucleotide variant	NM_000187.4(HGD):c.559C>G (p.Arg187Gly)	Alkaptonuria [RCV000671938]	conflicting interpretations of pathogenicity\|uncertain significance	3	120646357	120646357	Human	1	name
13784127	CV542904	single nucleotide variant	NM_000187.4(HGD):c.347T>C (p.Leu116Pro)	Alkaptonuria [RCV000670576]\|not provided [RCV005427236]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	120650861	120650861	Human	1	name
13787213	CV542945	single nucleotide variant	NM_000187.4(HGD):c.455G>C (p.Gly152Ala)	Alkaptonuria [RCV000664709]	conflicting interpretations of pathogenicity\|uncertain significance	3	120647891	120647891	Human	1	name
13832144	CV582635	single nucleotide variant	NM_000187.4(HGD):c.704A>C (p.Glu235Ala)	not provided [RCV000722827]	uncertain significance	3	120644389	120644389	Human		name
15149482	CV720099	single nucleotide variant	NM_000187.4(HGD):c.919C>T (p.Arg307Cys)	Alkaptonuria [RCV000879173]\|not provided [RCV004711364]	likely benign\|conflicting interpretations of pathogenicity	3	120638542	120638542	Human	1	name
8621797	CV76481	duplication	NM_000187.4(HGD):c.1111dup (p.His371fs)	Alkaptonuria [RCV000055777]\|HGD-related disorder [RCV004751249]	pathogenic	3	120633223	120633224	Human	2	name , trait , alternate_id
8621801	CV76486	single nucleotide variant	NM_000187.4(HGD):c.360T>G (p.Cys120Trp)	Alkaptonuria [RCV000055782]	pathogenic	3	120650848	120650848	Human	1	name
26906296	CV827321	single nucleotide variant	NM_000187.4(HGD):c.680T>C (p.Phe227Ser)	Alkaptonuria [RCV001037383]	pathogenic\|likely pathogenic	3	120644413	120644413	Human	1	name
28884681	CV887711	single nucleotide variant	NM_000187.4(HGD):c.794T>C (p.Val265Ala)	Alkaptonuria [RCV001150628]	uncertain significance	3	120641674	120641674	Human	1	name
28884685	CV887712	single nucleotide variant	NM_000187.4(HGD):c.752G>A (p.Gly251Asp)	Alkaptonuria [RCV001150629]	uncertain significance	3	120644341	120644341	Human	1	name
34888581	CV917797	single nucleotide variant	NM_000187.4(HGD):c.665C>A (p.Ala222Asp)	Alkaptonuria [RCV001194660]	likely pathogenic	3	120644428	120644428	Human	1	name
34888580	CV917798	single nucleotide variant	NM_000187.4(HGD):c.536T>G (p.Ile179Ser)	Alkaptonuria [RCV001194659]	likely pathogenic	3	120646986	120646986	Human	1	name
34888577	CV917799	single nucleotide variant	NM_000187.4(HGD):c.413G>A (p.Cys138Tyr)	Alkaptonuria [RCV001194658]	likely pathogenic	3	120650795	120650795	Human	1	name
38475284	CV922990	single nucleotide variant	NM_000187.4(HGD):c.502G>A (p.Glu168Lys)	Alkaptonuria [RCV001215109]	pathogenic\|likely pathogenic	3	120647020	120647020	Human	1	name
38489710	CV943257	single nucleotide variant	NM_000187.4(HGD):c.710G>A (p.Arg237His)	Alkaptonuria [RCV001238529]	uncertain significance	3	120644383	120644383	Human	1	name
151232365	CV1254249	single nucleotide variant	NM_000187.4(HGD):c.1084G>A (p.Gly362Arg)	Alkaptonuria [RCV001799116]	likely pathogenic	3	120633251	120633251	Human	1	name
151838023	CV1468202	single nucleotide variant	NM_000187.4(HGD):c.1269C>A (p.Tyr423Ter)	Alkaptonuria [RCV001956399]	pathogenic	3	120628449	120628449	Human	1	name
8591613	CV18211	single nucleotide variant	NM_000187.4(HGD):c.1112A>G (p.His371Arg)	Alkaptonuria [RCV000003322]	pathogenic\|likely pathogenic	3	120633223	120633223	Human	1	name
8591614	CV18212	single nucleotide variant	NM_000187.4(HGD):c.1102A>G (p.Met368Val)	Alkaptonuria [RCV000003323]\|See cases [RCV004584308]\|not provided [RCV002279945]	pathogenic	3	120633233	120633233	Human	1	name
10041375	CV186669	single nucleotide variant	NM_000187.4(HGD):c.1336T>C (p.Ter446Arg)	Alkaptonuria [RCV000169039]\|not provided [RCV003225036]	likely pathogenic\|uncertain significance	3	120628382	120628382	Human	1	name
156404354	CV1886669	single nucleotide variant	NM_000187.4(HGD):c.1162C>T (p.Pro388Ser)	Alkaptonuria [RCV003069694]	uncertain significance	3	120633173	120633173	Human	1	name
156107534	CV2096501	single nucleotide variant	NM_000187.4(HGD):c.1097G>A (p.Ser366Asn)	Alkaptonuria [RCV002913642]	likely benign\|conflicting interpretations of pathogenicity	3	120633238	120633238	Human	1	name
156117350	CV2111220	single nucleotide variant	NM_000187.4(HGD):c.1061A>G (p.Gln354Arg)	Alkaptonuria [RCV002914021]	uncertain significance	3	120633274	120633274	Human	1	name
156286549	CV2114911	single nucleotide variant	NM_000187.4(HGD):c.1040G>A (p.Arg347Gln)	Alkaptonuria [RCV002921973]	uncertain significance	3	120633295	120633295	Human	1	name
155928337	CV2228248	single nucleotide variant	NM_000187.4(HGD):c.1253G>A (p.Cys418Tyr)	Inborn genetic diseases [RCV002728401]	uncertain significance	3	120628465	120628465	Human	1	name
329351023	CV2477853	single nucleotide variant	NM_000187.4(HGD):c.1118C>T (p.Pro373Leu)	Alkaptonuria [RCV003388941]\|not provided [RCV003223966]	pathogenic\|uncertain significance	3	120633217	120633217	Human	1	name
329952077	CV2668810	single nucleotide variant	NM_000187.4(HGD):c.1040G>C (p.Arg347Pro)	Alkaptonuria [RCV003388958]\|not specified [RCV003230891]	pathogenic\|uncertain significance	3	120633295	120633295	Human	1	name
401749359	CV2694627	single nucleotide variant	NM_000187.4(HGD):c.1186A>G (p.Met396Val)	Alkaptonuria [RCV005029960]\|Inborn genetic diseases [RCV003253302]	uncertain significance	3	120633149	120633149	Human	2	name
401721100	CV2737441	single nucleotide variant	NM_000187.4(HGD):c.1281G>A (p.Trp427Ter)	Alkaptonuria [RCV003314380]	uncertain significance	3	120628437	120628437	Human	1	name
401860515	CV2752273	single nucleotide variant	NM_000187.4(HGD):c.1060C>T (p.Gln354Ter)	Alkaptonuria [RCV003336678]	pathogenic	3	120633275	120633275	Human	1	name
401915262	CV2795193	single nucleotide variant	NM_000187.4(HGD):c.1049A>G (p.Tyr350Cys)	Alkaptonuria [RCV003388975]	pathogenic	3	120633286	120633286	Human	1	name
401915768	CV2795198	single nucleotide variant	NM_000187.4(HGD):c.1079G>C (p.Gly360Ala)	Alkaptonuria [RCV003388980]	pathogenic	3	120633256	120633256	Human	1	name
401915288	CV2795202	single nucleotide variant	NM_000187.4(HGD):c.1057A>C (p.Lys353Gln)	Alkaptonuria [RCV003388984]	pathogenic	3	120633278	120633278	Human	1	name
401915297	CV2795206	single nucleotide variant	NM_000187.4(HGD):c.1009A>G (p.Asn337Asp)	Alkaptonuria [RCV003388988]	pathogenic	3	120633326	120633326	Human	1	name
401915311	CV2795212	single nucleotide variant	NM_000187.4(HGD):c.1085G>A (p.Gly362Glu)	Alkaptonuria [RCV003388994]	pathogenic	3	120633250	120633250	Human	1	name
401915323	CV2795216	single nucleotide variant	NM_000187.4(HGD):c.1075C>T (p.Pro359Ser)	Alkaptonuria [RCV003388998]	pathogenic	3	120633260	120633260	Human	1	name
401915366	CV2795233	single nucleotide variant	NM_000187.4(HGD):c.1034T>G (p.Leu345Arg)	Alkaptonuria [RCV003389015]	pathogenic	3	120633301	120633301	Human	1	name
401915379	CV2795238	single nucleotide variant	NM_000187.4(HGD):c.1007G>A (p.Arg336Lys)	Alkaptonuria [RCV003389020]	pathogenic	3	120633328	120633328	Human	1	name
401915383	CV2795239	single nucleotide variant	NM_000187.4(HGD):c.1019G>T (p.Ser340Ile)	Alkaptonuria [RCV003389021]	pathogenic	3	120633316	120633316	Human	1	name
401915388	CV2795241	single nucleotide variant	NM_000187.4(HGD):c.1007G>C (p.Arg336Thr)	Alkaptonuria [RCV003389023]	pathogenic	3	120633328	120633328	Human	1	name
401915390	CV2795242	single nucleotide variant	NM_000187.4(HGD):c.1037T>C (p.Ile346Thr)	Alkaptonuria [RCV003389024]\|not specified [RCV005240758]	pathogenic\|uncertain significance	3	120633298	120633298	Human	1	name
11583579	CV289018	single nucleotide variant	NM_000187.4(HGD):c.1027A>C (p.Met343Leu)	Alkaptonuria [RCV000267668]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	120633308	120633308	Human	1	name
405127083	CV2894582	single nucleotide variant	NM_000187.4(HGD):c.1076C>T (p.Pro359Leu)	Alkaptonuria [RCV003501695]	likely pathogenic\|conflicting interpretations of pathogenicity	3	120633259	120633259	Human	1	name
405115907	CV2913795	single nucleotide variant	NM_000187.4(HGD):c.1131C>A (p.Cys377Ter)	Alkaptonuria [RCV003500089]	pathogenic	3	120633204	120633204	Human	1	name
405027798	CV3049249	single nucleotide variant	NM_000187.4(HGD):c.1061A>C (p.Gln354Pro)	Alkaptonuria [RCV003608605]	uncertain significance	3	120633274	120633274	Human	1	name
405711419	CV3225895	single nucleotide variant	NM_000187.4(HGD):c.1034T>C (p.Leu345Pro)	Alkaptonuria [RCV003990954]	likely pathogenic	3	120633301	120633301	Human	1	name
405777338	CV3270030	single nucleotide variant	NM_000187.4(HGD):c.1055C>T (p.Ala352Val)	Inborn genetic diseases [RCV004396947]	uncertain significance	3	120633280	120633280	Human	1	name
405777331	CV3270031	single nucleotide variant	NM_000187.4(HGD):c.1174G>A (p.Ala392Thr)	Inborn genetic diseases [RCV004396948]	uncertain significance	3	120633161	120633161	Human	1	name
405777325	CV3270032	single nucleotide variant	NM_000187.4(HGD):c.1243G>A (p.Ala415Thr)	Inborn genetic diseases [RCV004396949]	likely benign	3	120628475	120628475	Human	1	name
596942723	CV3544188	single nucleotide variant	NM_000187.4(HGD):c.1079G>T (p.Gly360Val)	Alkaptonuria [RCV004800179]	pathogenic	3	120633256	120633256	Human	1	name
12739387	CV357267	single nucleotide variant	NM_000187.4(HGD):c.1201G>C (p.Glu401Gln)	Alkaptonuria [RCV000409498]	pathogenic\|likely pathogenic	3	120628517	120628517	Human	1	name
597680628	CV3723941	single nucleotide variant	NM_000187.4(HGD):c.1325C>A (p.Ala442Glu)	Alkaptonuria [RCV005031017]	uncertain significance	3	120628393	120628393	Human	1	name
597680643	CV3723943	single nucleotide variant	NM_000187.4(HGD):c.1230G>C (p.Lys410Asn)	Alkaptonuria [RCV005031019]	uncertain significance	3	120628488	120628488	Human	1	name
597711656	CV3723944	single nucleotide variant	NM_000187.4(HGD):c.1184C>T (p.Thr395Ile)	Alkaptonuria [RCV005034892]	uncertain significance	3	120633151	120633151	Human	1	name
597711668	CV3723945	single nucleotide variant	NM_000187.4(HGD):c.1043G>A (p.Gly348Asp)	Alkaptonuria [RCV005034893]	uncertain significance	3	120633292	120633292	Human	1	name
598177345	CV3978710	single nucleotide variant	NM_000187.4(HGD):c.1261G>A (p.Glu421Lys)	Inborn genetic diseases [RCV005351816]	uncertain significance	3	120628457	120628457	Human	1	name
598177351	CV3978711	single nucleotide variant	NM_000187.4(HGD):c.1177G>T (p.Asp393Tyr)	Inborn genetic diseases [RCV005351817]	uncertain significance	3	120633158	120633158	Human	1	name
13784123	CV542749	single nucleotide variant	NM_000187.4(HGD):c.1106C>A (p.Thr369Asn)	Alkaptonuria [RCV000670571]	uncertain significance	3	120633229	120633229	Human	1	name
13787578	CV542930	single nucleotide variant	NM_000187.4(HGD):c.1120G>C (p.Asp374His)	Alkaptonuria [RCV000664925]	conflicting interpretations of pathogenicity\|uncertain significance	3	120633215	120633215	Human	1	name
13788016	CV542942	single nucleotide variant	NM_000187.4(HGD):c.1081G>A (p.Gly361Arg)	Alkaptonuria [RCV000665152]	conflicting interpretations of pathogenicity\|uncertain significance	3	120633254	120633254	Human	1	name
13832410	CV582904	single nucleotide variant	NM_000187.4(HGD):c.1288C>A (p.Leu430Ile)	not provided [RCV000723098]	uncertain significance	3	120628430	120628430	Human		name
14710630	CV630755	single nucleotide variant	NM_000187.4(HGD):c.1078G>C (p.Gly360Arg)	Alkaptonuria [RCV000793180]	pathogenic	3	120633257	120633257	Human	1	name
15167680	CV733711	single nucleotide variant	NM_000187.4(HGD):c.1128C>G (p.Asp376Glu)	Alkaptonuria [RCV000904700]	likely benign	3	120633207	120633207	Human	1	name
26890276	CV827319	single nucleotide variant	NM_000187.4(HGD):c.1114G>A (p.Gly372Arg)	Alkaptonuria [RCV001067792]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	120633221	120633221	Human	1	name
26913951	CV827320	single nucleotide variant	NM_000187.4(HGD):c.1039C>T (p.Arg347Ter)	Alkaptonuria [RCV001054603]\|not provided [RCV004792682]	pathogenic\|likely pathogenic	3	120633296	120633296	Human	1	name
28879879	CV887710	single nucleotide variant	NM_000187.4(HGD):c.1115G>T (p.Gly372Val)	Alkaptonuria [RCV001149127]	uncertain significance	3	120633220	120633220	Human	1	name
155736314	CV1782051	deletion	NM_000187.4(HGD):c.148_149del (p.Thr50fs)	Alkaptonuria [RCV002309792]	likely pathogenic	3	120674928	120674929	Human	1	name
156240366	CV2129577	deletion	NM_000187.4(HGD):c.237_240del (p.Gln80fs)	Alkaptonuria [RCV002958845]	pathogenic	3	120670469	120670472	Human	1	name
401860448	CV2752253	deletion	NM_000187.4(HGD):c.1007-1709_1188+1121del	Alkaptonuria [RCV003336658]	pathogenic	3	120632026	120635037	Human	1	name
8621799	CV76484	deletion	NM_000187.3(HGD):c.174delA (p.Ser59Alafs)	Alkaptonuria [RCV000055780]	pathogenic	3	120674903	120674903	Human		name
151750656	CV1370484	deletion	NM_000187.4(HGD):c.164_166del (p.Thr55del)	Alkaptonuria [RCV001872222]	uncertain significance	3	120674911	120674913	Human	1	name
155725169	CV1783519	deletion	NM_000187.4(HGD):c.626_635del (p.Glu209fs)	Alkaptonuria [RCV002306963]	likely pathogenic	3	120646281	120646290	Human	1	name
401860460	CV2752259	deletion	NM_000187.4(HGD):c.472_496del (p.Pro158fs)	Alkaptonuria [RCV003336664]	pathogenic	3	120647026	120647050	Human	1	name
401860470	CV2752265	duplication	NM_000187.4(HGD):c.664_674dup (p.Asp226fs)	Alkaptonuria [RCV003336670]	pathogenic	3	120644418	120644419	Human	1	name
405117371	CV2920308	deletion	NM_000187.4(HGD):c.588_597del (p.Arg197fs)	Alkaptonuria [RCV003500112]	pathogenic	3	120646319	120646328	Human	1	name
12740389	CV357277	deletion	NM_000187.4(HGD):c.376_377del (p.Lys126fs)	Alkaptonuria [RCV000411862]	pathogenic\|likely pathogenic	3	120650831	120650832	Human	1	name
597711740	CV3723959	deletion	NM_000187.4(HGD):c.801_805del (p.Trp268fs)	Alkaptonuria [RCV005034900]	likely pathogenic	3	120641663	120641667	Human	1	name
597711779	CV3723979	deletion	NM_000187.4(HGD):c.308_317del (p.Pro103fs)	Alkaptonuria [RCV005034904]	likely pathogenic	3	120652617	120652626	Human	1	name
597680694	CV3723956	duplication	NM_000187.4(HGD):c.856_859dup (p.Ser287Ter)	Alkaptonuria [RCV005031026]	likely pathogenic	3	120641608	120641609	Human	1	name
155736811	CV1784018	insertion	NM_000187.4(HGD):c.302_303insTG (p.Glu101fs)	Alkaptonuria [RCV002310175]	likely pathogenic	3	120652631	120652632	Human	1	name
155909603	CV2088162	deletion	NM_000187.4(HGD):c.1157_1160del (p.Leu386fs)	Alkaptonuria [RCV002858383]	pathogenic	3	120633175	120633178	Human	1	name
597680636	CV3723942	deletion	NM_000187.4(HGD):c.1258_1261del (p.Asp420fs)	Alkaptonuria [RCV005031018]	likely pathogenic	3	120628457	120628460	Human	1	name
597956284	CV3792366	deletion	NM_000187.4(HGD):c.1171_1181del (p.Ile391fs)	Alkaptonuria [RCV005137254]	pathogenic	3	120633154	120633164	Human	1	name
13486582	CV443336	deletion	NM_000187.4(HGD):c.1290_1300del (p.Lys431fs)	Alkaptonuria [RCV000793930]\|not provided [RCV000522957]	likely pathogenic\|uncertain significance	3	120628418	120628428	Human	1	name
12739789	CV357284	indel	NM_000187.4(HGD):c.31_32delinsATT (p.Gly11fs)	Alkaptonuria [RCV000410442]	pathogenic\|likely pathogenic	3	120675847	120675848	Human		name
12739809	CV357270	indel	NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs)	Alkaptonuria [RCV000410483]\|HGD-related disorder [RCV003401391]	pathogenic	3	120633316	120633318	Human		name , trait , alternate_id
401860467	CV2752263	microsatellite	NM_000187.4(HGD):c.184_187dup (p.Arg63delinsIleTer)	Alkaptonuria [RCV003336668]	pathogenic	3	120670521	120670522	Human		name
401860455	CV2752257	deletion	NM_000187.4(HGD):c.1115_1117del (p.Gly372_Pro373delinsAla)	Alkaptonuria [RCV003336662]	pathogenic	3	120633218	120633220	Human	1	name
401860463	CV2752261	duplication	NM_000187.4(HGD):c.1095_1100dup (p.Thr367_Met368insSerThr)	Alkaptonuria [RCV003336666]	pathogenic	3	120633234	120633235	Human	1	name
401860461	CV2752260	insertion	NM_000187.4(HGD):c.656_657insAATCAA (p.Ala218_Asn219insLysIle)	Alkaptonuria [RCV003336665]	pathogenic	3	120644436	120644437	Human	1	name

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