Dhtkd1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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949 records found for search term Dhtkd1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150467060	CV1277507	single nucleotide variant	NM_018706.7(DHTKD1):c.*129C>T	not provided [RCV001710802]	benign	10	12121017	12121017	Human		name
405736501	CV213596	single nucleotide variant	NM_018706.5(DHTKD1):c.2143C>T	Inborn genetic diseases [RCV004020910]	likely pathogenic	10	12108004	12108004	Human	1	name
150528485	CV1288338	single nucleotide variant	NM_018706.7(DHTKD1):c.155-1G>T	not provided [RCV001726806]	uncertain significance	10	12081471	12081471	Human		name
150540377	CV1314502	single nucleotide variant	NM_018706.7(DHTKD1):c.522+1G>C	not provided [RCV001780932]	likely pathogenic	10	12084752	12084752	Human		name
151860936	CV1483087	single nucleotide variant	NM_018706.7(DHTKD1):c.522+3A>G	2-aminoadipic 2-oxoadipic aciduria [RCV001883910]	uncertain significance	10	12084754	12084754	Human	1	name
153305090	CV1690823	single nucleotide variant	NM_018706.7(DHTKD1):c.987+1G>T	not provided [RCV002271357]	not provided	10	12089256	12089256	Human		name
156308119	CV1912739	single nucleotide variant	NM_018706.7(DHTKD1):c.522+9G>T	2-aminoadipic 2-oxoadipic aciduria [RCV002599502]	likely benign	10	12084760	12084760	Human	1	name
156375541	CV1930430	single nucleotide variant	NM_018706.7(DHTKD1):c.987+4C>T	2-aminoadipic 2-oxoadipic aciduria [RCV002633799]	uncertain significance	10	12089259	12089259	Human	1	name
156412516	CV1968703	single nucleotide variant	NM_018706.7(DHTKD1):c.523-8T>G	2-aminoadipic 2-oxoadipic aciduria [RCV002608565]	uncertain significance	10	12087527	12087527	Human	1	name
156395875	CV1985131	single nucleotide variant	NM_018706.7(DHTKD1):c.154+8A>G	2-aminoadipic 2-oxoadipic aciduria [RCV002635473]	likely benign\|uncertain significance	10	12069195	12069195	Human	1	name
156338725	CV2057909	single nucleotide variant	NM_018706.7(DHTKD1):c.310+2T>C	2-aminoadipic 2-oxoadipic aciduria [RCV002811080]	likely pathogenic	10	12081629	12081629	Human	1	name
156053367	CV2093603	single nucleotide variant	NM_018706.7(DHTKD1):c.718-4A>G	2-aminoadipic 2-oxoadipic aciduria [RCV002867857]	uncertain significance	10	12088982	12088982	Human	1	name
156190655	CV2175174	single nucleotide variant	NM_018706.7(DHTKD1):c.522+8G>A	2-aminoadipic 2-oxoadipic aciduria [RCV003057821]	likely benign	10	12084759	12084759	Human	1	name
156092311	CV2389567	single nucleotide variant	NM_018706.7(DHTKD1):c.154+2T>G	Inborn genetic diseases [RCV002784390]	uncertain significance	10	12069189	12069189	Human	1	name
405025743	CV2878775	single nucleotide variant	NM_018706.7(DHTKD1):c.523-3C>T	2-aminoadipic 2-oxoadipic aciduria [RCV003528968]	uncertain significance	10	12087532	12087532	Human	1	name
402490682	CV2977692	single nucleotide variant	NM_018706.7(DHTKD1):c.154+6G>T	2-aminoadipic 2-oxoadipic aciduria [RCV003643796]	uncertain significance	10	12069193	12069193	Human	1	name
404989339	CV3179878	single nucleotide variant	NM_018706.7(DHTKD1):c.718-7A>G	2-aminoadipic 2-oxoadipic aciduria [RCV003881356]	likely benign	10	12088979	12088979	Human	1	name
38459805	CV920281	single nucleotide variant	NM_018706.7(DHTKD1):c.718-5A>G	2-aminoadipic 2-oxoadipic aciduria [RCV001196120]\|DHTKD1-related disorder [RCV003973136]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	12088981	12088981	Human	1	name , trait , alternate_id
126909756	CV1046457	single nucleotide variant	NM_018706.7(DHTKD1):c.2659-3T>C	2-aminoadipic 2-oxoadipic aciduria [RCV001366061]	uncertain significance	10	12120784	12120784	Human	1	name
127318360	CV1156373	single nucleotide variant	NM_018706.7(DHTKD1):c.2320-4G>A	2-aminoadipic 2-oxoadipic aciduria [RCV001521618]\|not provided [RCV004718869]\|not specified [RCV001701189]	benign	10	12117669	12117669	Human	1	name
150479154	CV1221458	single nucleotide variant	NM_018706.7(DHTKD1):c.155-84T>C	not provided [RCV001616537]	benign	10	12081388	12081388	Human		name
150495654	CV1225129	single nucleotide variant	NM_018706.7(DHTKD1):c.311-49A>T	not provided [RCV001619607]	benign	10	12084491	12084491	Human		name
150515098	CV1228730	single nucleotide variant	NM_018706.7(DHTKD1):c.310+41A>C	not provided [RCV001638719]	benign	10	12081668	12081668	Human		name
150435501	CV1228882	single nucleotide variant	NM_018706.7(DHTKD1):c.310+40C>T	2-aminoadipic 2-oxoadipic aciduria [RCV001658361]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV001658362]\|not provided [RCV001637724]	benign	10	12081667	12081667	Human	2	name
151823683	CV1448686	single nucleotide variant	NM_018706.7(DHTKD1):c.2402+3A>G	2-aminoadipic 2-oxoadipic aciduria [RCV001934395]\|Inborn genetic diseases [RCV002562177]	uncertain significance	10	12117758	12117758	Human	2	name
151877008	CV1460124	single nucleotide variant	NM_018706.7(DHTKD1):c.2155-3C>T	2-aminoadipic 2-oxoadipic aciduria [RCV002036379]	uncertain significance	10	12112897	12112897	Human	1	name
151778344	CV1471021	single nucleotide variant	NM_018706.7(DHTKD1):c.1671+3G>A	2-aminoadipic 2-oxoadipic aciduria [RCV001971844]	uncertain significance	10	12097999	12097999	Human	1	name
151877971	CV1475858	single nucleotide variant	NM_018706.7(DHTKD1):c.2403-7C>G	2-aminoadipic 2-oxoadipic aciduria [RCV002019775]	likely benign\|uncertain significance	10	12118742	12118742	Human	1	name
151854519	CV1481670	single nucleotide variant	NM_018706.7(DHTKD1):c.155-17A>G	2-aminoadipic 2-oxoadipic aciduria [RCV002033604]\|not specified [RCV005406254]	likely benign\|uncertain significance	10	12081455	12081455	Human	1	name
151819499	CV1488303	deletion	NM_018706.7(DHTKD1):c.2658+2del	2-aminoadipic 2-oxoadipic aciduria [RCV001975590]	uncertain significance	10	12120269	12120269	Human	1	name
152026090	CV1540492	single nucleotide variant	NM_018706.7(DHTKD1):c.522+11G>T	2-aminoadipic 2-oxoadipic aciduria [RCV002104438]	likely benign	10	12084762	12084762	Human	1	name
152163107	CV1561162	single nucleotide variant	NM_018706.7(DHTKD1):c.155-20T>A	2-aminoadipic 2-oxoadipic aciduria [RCV002104173]	likely benign	10	12081452	12081452	Human	1	name
152037896	CV1572343	single nucleotide variant	NM_018706.7(DHTKD1):c.988-18C>T	2-aminoadipic 2-oxoadipic aciduria [RCV002205890]	likely benign	10	12091495	12091495	Human	1	name
152151461	CV1578192	single nucleotide variant	NM_018706.7(DHTKD1):c.717+12C>T	2-aminoadipic 2-oxoadipic aciduria [RCV002158259]	likely benign	10	12087741	12087741	Human	1	name
152129457	CV1583898	single nucleotide variant	NM_018706.7(DHTKD1):c.987+20T>C	2-aminoadipic 2-oxoadipic aciduria [RCV002199127]	benign	10	12089275	12089275	Human	1	name
152049826	CV1585613	single nucleotide variant	NM_018706.7(DHTKD1):c.2320-5C>T	2-aminoadipic 2-oxoadipic aciduria [RCV002145542]	benign	10	12117668	12117668	Human	1	name
152087275	CV1589966	single nucleotide variant	NM_018706.7(DHTKD1):c.310+16A>C	2-aminoadipic 2-oxoadipic aciduria [RCV002193799]	likely benign	10	12081643	12081643	Human	1	name
152136681	CV1595193	single nucleotide variant	NM_018706.7(DHTKD1):c.311-20C>G	2-aminoadipic 2-oxoadipic aciduria [RCV002200040]	likely benign	10	12084520	12084520	Human	1	name
152094192	CV1634446	single nucleotide variant	NM_018706.7(DHTKD1):c.154+19G>A	2-aminoadipic 2-oxoadipic aciduria [RCV002213138]	likely benign	10	12069206	12069206	Human	1	name
152129436	CV1637471	single nucleotide variant	NM_018706.7(DHTKD1):c.154+20C>A	2-aminoadipic 2-oxoadipic aciduria [RCV002217862]	likely benign	10	12069207	12069207	Human	1	name
152083008	CV1641622	single nucleotide variant	NM_018706.7(DHTKD1):c.717+13G>A	2-aminoadipic 2-oxoadipic aciduria [RCV002211666]	likely benign	10	12087742	12087742	Human	1	name
156307195	CV1877849	single nucleotide variant	NM_018706.7(DHTKD1):c.1159+5G>A	2-aminoadipic 2-oxoadipic aciduria [RCV003062247]\|Inborn genetic diseases [RCV003062248]\|not provided [RCV003318736]	uncertain significance	10	12091689	12091689	Human	2	name
156305802	CV1898604	single nucleotide variant	NM_018706.7(DHTKD1):c.2572+1G>A	2-aminoadipic 2-oxoadipic aciduria [RCV003088166]\|DHTKD1-related disorder [RCV003410082]	likely pathogenic	10	12118919	12118919	Human	1	name , trait , alternate_id
156110895	CV1903909	single nucleotide variant	NM_018706.7(DHTKD1):c.2320-9C>G	2-aminoadipic 2-oxoadipic aciduria [RCV003080966]	likely benign	10	12117664	12117664	Human	1	name
156041661	CV1926893	single nucleotide variant	NM_018706.7(DHTKD1):c.2658+1G>T	2-aminoadipic 2-oxoadipic aciduria [RCV002637600]\|Inborn genetic diseases [RCV002651310]	uncertain significance	10	12120268	12120268	Human	2	name
156405958	CV1953935	single nucleotide variant	NM_018706.7(DHTKD1):c.523-14A>T	2-aminoadipic 2-oxoadipic aciduria [RCV002585759]	likely benign	10	12087521	12087521	Human	1	name
156332286	CV2000655	single nucleotide variant	NM_018706.7(DHTKD1):c.154+18G>A	2-aminoadipic 2-oxoadipic aciduria [RCV002649885]	likely benign	10	12069205	12069205	Human	1	name
156180408	CV2020464	single nucleotide variant	NM_018706.7(DHTKD1):c.718-15A>G	2-aminoadipic 2-oxoadipic aciduria [RCV002710766]	likely benign	10	12088971	12088971	Human	1	name
10411789	CV205468	single nucleotide variant	NM_018706.7(DHTKD1):c.2402+1G>C	Abnormality of neuronal migration [RCV000201346]	benign	10	12117756	12117756	Human	1	name
156016127	CV2061630	single nucleotide variant	NM_018706.7(DHTKD1):c.310+12G>A	2-aminoadipic 2-oxoadipic aciduria [RCV002820382]	likely benign	10	12081639	12081639	Human	1	name
156297082	CV2065379	single nucleotide variant	NM_018706.7(DHTKD1):c.522+19G>C	2-aminoadipic 2-oxoadipic aciduria [RCV002856990]	likely benign	10	12084770	12084770	Human	1	name
156134186	CV2113203	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+2T>C	2-aminoadipic 2-oxoadipic aciduria [RCV002928316]	likely pathogenic	10	12100264	12100264	Human	1	name
155936022	CV2114160	single nucleotide variant	NM_018706.7(DHTKD1):c.310+10C>T	2-aminoadipic 2-oxoadipic aciduria [RCV002904139]	likely benign	10	12081637	12081637	Human	1	name
156018375	CV2114667	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+7A>T	2-aminoadipic 2-oxoadipic aciduria [RCV002909490]	likely benign	10	12100269	12100269	Human	1	name
156228935	CV2140842	single nucleotide variant	NM_018706.7(DHTKD1):c.154+15C>T	2-aminoadipic 2-oxoadipic aciduria [RCV003007667]	likely benign	10	12069202	12069202	Human	1	name
156253243	CV2232490	single nucleotide variant	NM_018706.7(DHTKD1):c.1671+4G>A	Inborn genetic diseases [RCV002714107]	uncertain significance	10	12098000	12098000	Human	1	name
243051421	CV2415809	single nucleotide variant	NM_018706.7(DHTKD1):c.2320-2A>T	2-aminoadipic 2-oxoadipic aciduria [RCV003148419]	likely pathogenic	10	12117671	12117671	Human	1	name
405029173	CV2885623	single nucleotide variant	NM_018706.7(DHTKD1):c.1160-1G>C	2-aminoadipic 2-oxoadipic aciduria [RCV003529239]	likely pathogenic	10	12094072	12094072	Human	1	name
405017655	CV2923217	single nucleotide variant	NM_018706.7(DHTKD1):c.1757-7G>A	2-aminoadipic 2-oxoadipic aciduria [RCV003527898]	likely benign	10	12101035	12101035	Human	1	name
405016892	CV2928323	single nucleotide variant	NM_018706.7(DHTKD1):c.2403-3C>A	2-aminoadipic 2-oxoadipic aciduria [RCV003527825]	uncertain significance	10	12118746	12118746	Human	1	name
402490855	CV2985137	single nucleotide variant	NM_018706.7(DHTKD1):c.717+16G>T	2-aminoadipic 2-oxoadipic aciduria [RCV003643814]	likely benign	10	12087745	12087745	Human	1	name
402491068	CV2988549	single nucleotide variant	NM_018706.7(DHTKD1):c.522+12C>A	2-aminoadipic 2-oxoadipic aciduria [RCV003643836]	likely benign	10	12084763	12084763	Human	1	name
402493949	CV3011379	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+1G>C	2-aminoadipic 2-oxoadipic aciduria [RCV003644143]	likely pathogenic	10	12100263	12100263	Human	1	name
402495902	CV3028725	single nucleotide variant	NM_018706.7(DHTKD1):c.2402+9T>C	2-aminoadipic 2-oxoadipic aciduria [RCV003644364]	likely benign	10	12117764	12117764	Human	1	name
402479176	CV3041922	single nucleotide variant	NM_018706.7(DHTKD1):c.2572+9T>C	2-aminoadipic 2-oxoadipic aciduria [RCV003642406]	likely benign	10	12118927	12118927	Human	1	name
402481328	CV3059818	single nucleotide variant	NM_018706.7(DHTKD1):c.1671+9C>G	2-aminoadipic 2-oxoadipic aciduria [RCV003642631]	likely benign	10	12098005	12098005	Human	1	name
402480457	CV3064080	single nucleotide variant	NM_018706.7(DHTKD1):c.1757-3A>T	2-aminoadipic 2-oxoadipic aciduria [RCV003642666]	uncertain significance	10	12101039	12101039	Human	1	name
404997197	CV3123852	single nucleotide variant	NM_018706.7(DHTKD1):c.2402+1G>A	2-aminoadipic 2-oxoadipic aciduria [RCV003827759]	likely pathogenic	10	12117756	12117756	Human	1	name
405021660	CV3139258	single nucleotide variant	NM_018706.7(DHTKD1):c.1671+3G>T	2-aminoadipic 2-oxoadipic aciduria [RCV003829901]	uncertain significance	10	12097999	12097999	Human	1	name
405151006	CV3142141	single nucleotide variant	NM_018706.7(DHTKD1):c.1159+1G>A	2-aminoadipic 2-oxoadipic aciduria [RCV003840063]	likely pathogenic	10	12091685	12091685	Human	1	name
405244988	CV3161563	single nucleotide variant	NM_018706.7(DHTKD1):c.1897-6G>C	2-aminoadipic 2-oxoadipic aciduria [RCV003868276]	likely benign	10	12106240	12106240	Human	1	name
405085073	CV3167226	single nucleotide variant	NM_018706.7(DHTKD1):c.2658+7A>C	2-aminoadipic 2-oxoadipic aciduria [RCV003851807]	likely benign	10	12120274	12120274	Human	1	name
405249878	CV3170141	single nucleotide variant	NM_018706.7(DHTKD1):c.717+13G>T	2-aminoadipic 2-oxoadipic aciduria [RCV003869770]	likely benign	10	12087742	12087742	Human	1	name
402474199	CV3172273	single nucleotide variant	NM_018706.7(DHTKD1):c.2047+9C>T	2-aminoadipic 2-oxoadipic aciduria [RCV003874876]	likely benign	10	12106405	12106405	Human	1	name
405242515	CV3173264	single nucleotide variant	NM_018706.7(DHTKD1):c.522+12C>T	2-aminoadipic 2-oxoadipic aciduria [RCV003867549]	likely benign	10	12084763	12084763	Human	1	name
405254503	CV3175170	single nucleotide variant	NM_018706.7(DHTKD1):c.155-11C>T	2-aminoadipic 2-oxoadipic aciduria [RCV003871622]	likely benign	10	12081461	12081461	Human	1	name
405281552	CV3224206	single nucleotide variant	NM_018706.7(DHTKD1):c.718-13G>A	2-aminoadipic 2-oxoadipic aciduria [RCV005064934]\|not specified [RCV003988588]	likely benign	10	12088973	12088973	Human	1	name
597949766	CV3772293	single nucleotide variant	NM_018706.7(DHTKD1):c.718-11A>G	2-aminoadipic 2-oxoadipic aciduria [RCV005120612]	likely benign	10	12088975	12088975	Human	1	name
597953248	CV3776362	single nucleotide variant	NM_018706.7(DHTKD1):c.523-12G>A	2-aminoadipic 2-oxoadipic aciduria [RCV005121490]	likely benign	10	12087523	12087523	Human	1	name
597906372	CV3781037	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+1G>A	2-aminoadipic 2-oxoadipic aciduria [RCV005127935]	likely pathogenic	10	12100263	12100263	Human	1	name
597919979	CV3781190	single nucleotide variant	NM_018706.7(DHTKD1):c.523-14A>G	2-aminoadipic 2-oxoadipic aciduria [RCV005130072]	likely benign	10	12087521	12087521	Human	1	name
597968445	CV3795012	single nucleotide variant	NM_018706.7(DHTKD1):c.311-17T>A	2-aminoadipic 2-oxoadipic aciduria [RCV005140980]	likely benign	10	12084523	12084523	Human	1	name
597941186	CV3819214	deletion	NM_018706.7(DHTKD1):c.2048-5del	2-aminoadipic 2-oxoadipic aciduria [RCV005159025]	benign	10	12107901	12107901	Human	1	name
597974446	CV3831651	single nucleotide variant	NM_018706.7(DHTKD1):c.311-14A>G	2-aminoadipic 2-oxoadipic aciduria [RCV005168590]	likely benign	10	12084526	12084526	Human	1	name
597893295	CV3856725	single nucleotide variant	NM_018706.7(DHTKD1):c.1671+1G>A	2-aminoadipic 2-oxoadipic aciduria [RCV005200793]\|2-aminoadipic 2-oxoadipic aciduria [RCV005410040]	likely pathogenic	10	12097997	12097997	Human	1	name
597863678	CV3860751	single nucleotide variant	NM_018706.7(DHTKD1):c.1757-3A>G	2-aminoadipic 2-oxoadipic aciduria [RCV005196279]	uncertain significance	10	12101039	12101039	Human	1	name
13493522	CV459707	single nucleotide variant	NM_018706.7(DHTKD1):c.1897-1G>A	2-aminoadipic 2-oxoadipic aciduria [RCV000535744]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV001335923]	pathogenic\|likely pathogenic	10	12106245	12106245	Human	2	name
15185160	CV744552	single nucleotide variant	NM_018706.7(DHTKD1):c.2048-4C>T	2-aminoadipic 2-oxoadipic aciduria [RCV000908452]\|not provided [RCV002065775]	likely benign\|uncertain significance	10	12107905	12107905	Human	1	name
15154311	CV759933	single nucleotide variant	NM_018706.7(DHTKD1):c.1358+9A>G	2-aminoadipic 2-oxoadipic aciduria [RCV000924233]	likely benign	10	12094280	12094280	Human	1	name
15182835	CV779459	single nucleotide variant	NM_018706.7(DHTKD1):c.987+10G>C	2-aminoadipic 2-oxoadipic aciduria [RCV000974732]\|DHTKD1-related disorder [RCV003983808]\|not provided [RCV001811553]	benign	10	12089265	12089265	Human	1	name , trait , alternate_id
38494279	CV960714	single nucleotide variant	NM_018706.7(DHTKD1):c.1159+4C>T	2-aminoadipic 2-oxoadipic aciduria [RCV001241202]	uncertain significance	10	12091688	12091688	Human	1	name
126759732	CV993741	single nucleotide variant	NM_018706.7(DHTKD1):c.2572+5G>A	2-aminoadipic 2-oxoadipic aciduria [RCV001299573]	uncertain significance	10	12118923	12118923	Human	1	name
127315553	CV1156367	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+16T>C	2-aminoadipic 2-oxoadipic aciduria [RCV001520035]\|not provided [RCV004718866]	benign	10	12100278	12100278	Human	1	name
127311754	CV1156371	single nucleotide variant	NM_018706.7(DHTKD1):c.2048-12G>T	2-aminoadipic 2-oxoadipic aciduria [RCV001518739]\|not provided [RCV001615202]	benign	10	12107897	12107897	Human	1	name
150336429	CV1172064	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+41A>T	not provided [RCV001540986]	benign	10	12100303	12100303	Human		name
150515258	CV1227498	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+40G>T	not provided [RCV001638771]	benign	10	12100302	12100302	Human		name
150442507	CV1233710	single nucleotide variant	NM_018706.7(DHTKD1):c.310+145C>A	not provided [RCV001645398]	benign	10	12081772	12081772	Human		name
150505912	CV1242084	single nucleotide variant	NM_018706.7(DHTKD1):c.2320-25A>G	2-aminoadipic 2-oxoadipic aciduria [RCV001658435]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV001658436]\|not provided [RCV001658437]	benign	10	12117648	12117648	Human	2	name
150436630	CV1245414	single nucleotide variant	NM_018706.7(DHTKD1):c.1671+35C>G	2-aminoadipic 2-oxoadipic aciduria [RCV001661395]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV001661396]\|not provided [RCV001694158]	benign	10	12098031	12098031	Human	2	name
150489120	CV1250493	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+42G>T	not provided [RCV001674456]	benign	10	12100304	12100304	Human		name
150439305	CV1266754	single nucleotide variant	NM_018706.7(DHTKD1):c.155-108T>A	not provided [RCV001690189]	benign	10	12081364	12081364	Human		name
150456158	CV1278461	single nucleotide variant	NM_018706.7(DHTKD1):c.523-186C>G	not provided [RCV001709076]	benign	10	12087349	12087349	Human		name
150485110	CV1280649	single nucleotide variant	NM_018706.7(DHTKD1):c.2155-66C>T	not provided [RCV001715521]	benign	10	12112834	12112834	Human		name
150492923	CV1281513	single nucleotide variant	NM_018706.7(DHTKD1):c.522+154G>A	not provided [RCV001716904]	benign	10	12084905	12084905	Human		name
8651680	CV128255	single nucleotide variant	NM_018706.6(DHTKD1):c.2659-24A>G	Lung cancer [RCV000108742]	uncertain significance	10	12120763	12120763	Human		name
151352402	CV1321370	single nucleotide variant	NM_018706.7(DHTKD1):c.2047+16T>C	2-aminoadipic 2-oxoadipic aciduria [RCV005095181]\|not provided [RCV001811805]	likely benign	10	12106412	12106412	Human	1	name
151352433	CV1321416	single nucleotide variant	NM_018706.7(DHTKD1):c.2573-13T>G	not provided [RCV001811836]	uncertain significance	10	12120169	12120169	Human		name
151756712	CV1449394	single nucleotide variant	NM_018706.7(DHTKD1):c.2658+10C>T	2-aminoadipic 2-oxoadipic aciduria [RCV001986820]	likely benign	10	12120277	12120277	Human	1	name
151879959	CV1488603	single nucleotide variant	NM_018706.7(DHTKD1):c.2154+19G>A	2-aminoadipic 2-oxoadipic aciduria [RCV001999406]	likely benign\|uncertain significance	10	12108034	12108034	Human	1	name
152051937	CV1523524	deletion	NM_018706.7(DHTKD1):c.1756+22del	2-aminoadipic 2-oxoadipic aciduria [RCV002127351]	benign	10	12100275	12100275	Human	1	name
152052998	CV1523665	duplication	NM_018706.7(DHTKD1):c.1756+22dup	2-aminoadipic 2-oxoadipic aciduria [RCV002127460]	benign	10	12100274	12100275	Human	1	name
152106130	CV1527307	single nucleotide variant	NM_018706.7(DHTKD1):c.2154+11C>T	2-aminoadipic 2-oxoadipic aciduria [RCV002079634]	likely benign	10	12108026	12108026	Human	1	name
152050344	CV1542965	deletion	NM_018706.7(DHTKD1):c.1756+12del	2-aminoadipic 2-oxoadipic aciduria [RCV002108883]	likely benign	10	12100274	12100274	Human	1	name
152137996	CV1580518	single nucleotide variant	NM_018706.7(DHTKD1):c.1358+20T>C	2-aminoadipic 2-oxoadipic aciduria [RCV002156390]	likely benign	10	12094291	12094291	Human	1	name
152133513	CV1607435	single nucleotide variant	NM_018706.7(DHTKD1):c.1897-15C>T	2-aminoadipic 2-oxoadipic aciduria [RCV002119387]	likely benign	10	12106231	12106231	Human	1	name
152165778	CV1611441	single nucleotide variant	NM_018706.7(DHTKD1):c.1160-13T>G	2-aminoadipic 2-oxoadipic aciduria [RCV002141785]	likely benign	10	12094060	12094060	Human	1	name
152048578	CV1615004	single nucleotide variant	NM_018706.7(DHTKD1):c.2403-18T>C	2-aminoadipic 2-oxoadipic aciduria [RCV002088850]	likely benign	10	12118731	12118731	Human	1	name
152098276	CV1627044	single nucleotide variant	NM_018706.7(DHTKD1):c.2047+12C>T	2-aminoadipic 2-oxoadipic aciduria [RCV002095160]	likely benign	10	12106408	12106408	Human	1	name
152098277	CV1639843	single nucleotide variant	NM_018706.7(DHTKD1):c.1672-20T>A	2-aminoadipic 2-oxoadipic aciduria [RCV002078644]\|not provided [RCV004707755]	likely benign	10	12100158	12100158	Human	1	name
152115452	CV1641138	single nucleotide variant	NM_018706.7(DHTKD1):c.2573-12C>G	2-aminoadipic 2-oxoadipic aciduria [RCV002117122]	likely benign	10	12120170	12120170	Human	1	name
152075813	CV1653057	single nucleotide variant	NM_018706.7(DHTKD1):c.2319+12G>A	2-aminoadipic 2-oxoadipic aciduria [RCV002148680]	likely benign	10	12113076	12113076	Human	1	name
152049589	CV1657060	single nucleotide variant	NM_018706.7(DHTKD1):c.1358+19G>A	2-aminoadipic 2-oxoadipic aciduria [RCV002189237]	likely benign	10	12094290	12094290	Human	1	name
152073842	CV1660481	single nucleotide variant	NM_018706.7(DHTKD1):c.2048-18C>A	2-aminoadipic 2-oxoadipic aciduria [RCV002169640]	likely benign	10	12107891	12107891	Human	1	name
152068651	CV1662318	single nucleotide variant	NM_018706.7(DHTKD1):c.2048-16C>T	2-aminoadipic 2-oxoadipic aciduria [RCV002111146]	likely benign	10	12107893	12107893	Human	1	name
156380101	CV1873478	single nucleotide variant	NM_018706.7(DHTKD1):c.2154+18C>T	2-aminoadipic 2-oxoadipic aciduria [RCV003067096]	likely benign	10	12108033	12108033	Human	1	name
156026437	CV1883330	single nucleotide variant	NM_018706.7(DHTKD1):c.1896+19T>G	2-aminoadipic 2-oxoadipic aciduria [RCV003077895]	likely benign	10	12101200	12101200	Human	1	name
156330004	CV1884286	single nucleotide variant	NM_018706.7(DHTKD1):c.2659-20C>A	2-aminoadipic 2-oxoadipic aciduria [RCV003089734]	likely benign	10	12120767	12120767	Human	1	name
156242225	CV1892461	single nucleotide variant	NM_018706.7(DHTKD1):c.2319+11G>A	2-aminoadipic 2-oxoadipic aciduria [RCV003085790]	likely benign	10	12113075	12113075	Human	1	name
156086983	CV1899035	single nucleotide variant	NM_018706.7(DHTKD1):c.2155-14C>T	2-aminoadipic 2-oxoadipic aciduria [RCV003080073]	likely benign	10	12112886	12112886	Human	1	name
156437308	CV1937445	deletion	NM_018706.7(DHTKD1):c.2403-16del	2-aminoadipic 2-oxoadipic aciduria [RCV003106839]	likely benign	10	12118732	12118732	Human	1	name
156444007	CV1937605	single nucleotide variant	NM_018706.7(DHTKD1):c.2047+13G>A	2-aminoadipic 2-oxoadipic aciduria [RCV003114922]	likely benign	10	12106409	12106409	Human	1	name
156092247	CV1963371	single nucleotide variant	NM_018706.7(DHTKD1):c.1160-18T>C	2-aminoadipic 2-oxoadipic aciduria [RCV002570265]	likely benign	10	12094055	12094055	Human	1	name
156186884	CV1964752	single nucleotide variant	NM_018706.7(DHTKD1):c.1896+14A>G	2-aminoadipic 2-oxoadipic aciduria [RCV002574288]	likely benign	10	12101195	12101195	Human	1	name
156046744	CV1996617	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+20T>A	2-aminoadipic 2-oxoadipic aciduria [RCV002659231]	likely benign	10	12100282	12100282	Human	1	name
156355291	CV2005150	single nucleotide variant	NM_018706.7(DHTKD1):c.1358+16C>T	2-aminoadipic 2-oxoadipic aciduria [RCV002675877]	likely benign	10	12094287	12094287	Human	1	name
156180024	CV2023295	single nucleotide variant	NM_018706.7(DHTKD1):c.2658+11G>A	2-aminoadipic 2-oxoadipic aciduria [RCV002765587]	likely benign	10	12120278	12120278	Human	1	name
156008177	CV2034723	single nucleotide variant	NM_018706.7(DHTKD1):c.2047+18G>A	2-aminoadipic 2-oxoadipic aciduria [RCV002779991]	uncertain significance	10	12106414	12106414	Human	1	name
156225571	CV2048323	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+12C>G	2-aminoadipic 2-oxoadipic aciduria [RCV002790800]	likely benign	10	12100274	12100274	Human	1	name
156302705	CV2070024	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+10T>G	2-aminoadipic 2-oxoadipic aciduria [RCV002833698]	likely benign	10	12100272	12100272	Human	1	name
156164664	CV2090736	single nucleotide variant	NM_018706.7(DHTKD1):c.2320-12T>G	2-aminoadipic 2-oxoadipic aciduria [RCV002872790]	likely benign	10	12117661	12117661	Human	1	name
156053488	CV2101848	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+12C>T	2-aminoadipic 2-oxoadipic aciduria [RCV002886241]	likely benign	10	12100274	12100274	Human	1	name
156362207	CV2158955	duplication	NM_018706.7(DHTKD1):c.1757-14dup	2-aminoadipic 2-oxoadipic aciduria [RCV003031646]	likely benign	10	12101027	12101028	Human	1	name
155951782	CV2169649	single nucleotide variant	NM_018706.7(DHTKD1):c.1671+14A>G	2-aminoadipic 2-oxoadipic aciduria [RCV003014890]	likely benign	10	12098010	12098010	Human	1	name
156347021	CV2172720	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+18T>A	2-aminoadipic 2-oxoadipic aciduria [RCV003030615]	likely benign	10	12100280	12100280	Human	1	name
404986659	CV2852534	single nucleotide variant	NM_018706.7(DHTKD1):c.2659-17C>G	not specified [RCV003489748]	likely benign	10	12120770	12120770	Human		name
405028787	CV2881827	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+12C>A	2-aminoadipic 2-oxoadipic aciduria [RCV003529216]	likely benign	10	12100274	12100274	Human	1	name
402484577	CV2947598	single nucleotide variant	NM_018706.7(DHTKD1):c.1672-20T>C	2-aminoadipic 2-oxoadipic aciduria [RCV003643150]	likely benign	10	12100158	12100158	Human	1	name
402485605	CV2957383	single nucleotide variant	NM_018706.7(DHTKD1):c.2320-11C>T	2-aminoadipic 2-oxoadipic aciduria [RCV003643273]	likely benign	10	12117662	12117662	Human	1	name
402489763	CV2969468	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+13T>G	2-aminoadipic 2-oxoadipic aciduria [RCV003643706]	likely benign	10	12100275	12100275	Human	1	name
402490304	CV2980787	single nucleotide variant	NM_018706.7(DHTKD1):c.2320-14C>G	2-aminoadipic 2-oxoadipic aciduria [RCV003643759]	likely benign	10	12117659	12117659	Human	1	name
402492359	CV2991016	single nucleotide variant	NM_018706.7(DHTKD1):c.1160-17G>A	2-aminoadipic 2-oxoadipic aciduria [RCV003643973]	uncertain significance	10	12094056	12094056	Human	1	name
402493939	CV3004352	single nucleotide variant	NM_018706.7(DHTKD1):c.1159+19A>G	2-aminoadipic 2-oxoadipic aciduria [RCV003644142]	likely benign	10	12091703	12091703	Human	1	name
402479584	CV3046244	single nucleotide variant	NM_018706.7(DHTKD1):c.2048-15G>A	2-aminoadipic 2-oxoadipic aciduria [RCV003642459]	likely benign	10	12107894	12107894	Human	1	name
405125194	CV3126431	single nucleotide variant	NM_018706.7(DHTKD1):c.1896+16A>G	2-aminoadipic 2-oxoadipic aciduria [RCV003815183]	likely benign	10	12101197	12101197	Human	1	name
405154006	CV3135103	single nucleotide variant	NM_018706.7(DHTKD1):c.2048-18C>T	2-aminoadipic 2-oxoadipic aciduria [RCV003840215]	likely benign	10	12107891	12107891	Human	1	name
405190393	CV3156750	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+18T>C	2-aminoadipic 2-oxoadipic aciduria [RCV003859628]	likely benign	10	12100280	12100280	Human	1	name
402472960	CV3171809	single nucleotide variant	NM_018706.7(DHTKD1):c.2154+12G>A	2-aminoadipic 2-oxoadipic aciduria [RCV003874593]	likely benign	10	12108027	12108027	Human	1	name
402490404	CV3182314	single nucleotide variant	NM_018706.7(DHTKD1):c.2659-11T>G	2-aminoadipic 2-oxoadipic aciduria [RCV003876800]	likely benign	10	12120776	12120776	Human	1	name
597853489	CV3743431	single nucleotide variant	NM_018706.7(DHTKD1):c.1757-12T>C	2-aminoadipic 2-oxoadipic aciduria [RCV005060781]	likely benign	10	12101030	12101030	Human	1	name
597863542	CV3745352	deletion	NM_018706.7(DHTKD1):c.2319+19del	2-aminoadipic 2-oxoadipic aciduria [RCV005067708]	likely benign	10	12113082	12113082	Human	1	name
597947828	CV3758985	single nucleotide variant	NM_018706.7(DHTKD1):c.1159+12A>G	2-aminoadipic 2-oxoadipic aciduria [RCV005078781]	likely benign	10	12091696	12091696	Human	1	name
597888503	CV3804707	single nucleotide variant	NM_018706.7(DHTKD1):c.2155-15C>T	2-aminoadipic 2-oxoadipic aciduria [RCV005150969]	likely benign	10	12112885	12112885	Human	1	name
597898571	CV3826648	duplication	NM_018706.7(DHTKD1):c.1672-19dup	2-aminoadipic 2-oxoadipic aciduria [RCV005180781]	likely benign	10	12100158	12100159	Human	1	name
597888446	CV3859502	single nucleotide variant	NM_018706.7(DHTKD1):c.1756+20T>C	2-aminoadipic 2-oxoadipic aciduria [RCV005200158]	likely benign	10	12100282	12100282	Human	1	name
15151507	CV779461	single nucleotide variant	NM_018706.7(DHTKD1):c.2402+10G>C	2-aminoadipic 2-oxoadipic aciduria [RCV000968153]\|not provided [RCV004718799]	benign	10	12117765	12117765	Human	1	name
150339728	CV1167489	single nucleotide variant	NM_018706.7(DHTKD1):c.1160-184G>A	not provided [RCV001534515]	benign	10	12093889	12093889	Human		name
150505504	CV1213544	single nucleotide variant	NM_018706.7(DHTKD1):c.2403-116T>C	not provided [RCV001595800]	benign	10	12118633	12118633	Human		name
150480703	CV1222021	single nucleotide variant	NM_018706.7(DHTKD1):c.1757-180C>T	not provided [RCV001616818]	benign	10	12100862	12100862	Human		name
150481653	CV1222200	single nucleotide variant	NM_018706.7(DHTKD1):c.2572+156A>G	not provided [RCV001616998]	benign	10	12119074	12119074	Human		name
150437191	CV1237826	single nucleotide variant	NM_018706.7(DHTKD1):c.2403-146T>C	not provided [RCV001644324]	benign	10	12118603	12118603	Human		name
150477628	CV1240058	single nucleotide variant	NM_018706.7(DHTKD1):c.1159+155C>T	not provided [RCV001652236]	benign	10	12091839	12091839	Human		name
150482809	CV1245006	single nucleotide variant	NM_018706.7(DHTKD1):c.2048-100G>T	not provided [RCV001653183]	benign	10	12107809	12107809	Human		name
150509388	CV1247294	single nucleotide variant	NM_018706.7(DHTKD1):c.2659-126A>G	not provided [RCV001659321]	benign	10	12120661	12120661	Human		name
150459136	CV1248622	single nucleotide variant	NM_018706.7(DHTKD1):c.1897-126A>C	not provided [RCV001669232]	benign	10	12106120	12106120	Human		name
150507770	CV1257221	single nucleotide variant	NM_018706.7(DHTKD1):c.1896+140G>A	not provided [RCV001678520]	benign	10	12101321	12101321	Human		name
150481615	CV1258950	single nucleotide variant	NM_018706.7(DHTKD1):c.2320-200A>C	not provided [RCV001686080]	benign	10	12117473	12117473	Human		name
150472143	CV1259245	single nucleotide variant	NM_018706.7(DHTKD1):c.2403-157C>T	not provided [RCV001684491]	benign	10	12118592	12118592	Human		name
150442798	CV1264494	single nucleotide variant	NM_018706.7(DHTKD1):c.2659-226C>T	not provided [RCV001679477]	benign	10	12120561	12120561	Human		name
150438234	CV1264795	single nucleotide variant	NM_018706.7(DHTKD1):c.2403-158C>G	not provided [RCV001678788]	benign	10	12118591	12118591	Human		name
150471904	CV1270169	single nucleotide variant	NM_018706.7(DHTKD1):c.2403-125C>T	not provided [RCV001695457]	benign	10	12118624	12118624	Human	2	name
150471904	CV1270169	single nucleotide variant	NM_018706.7(DHTKD1):c.2403-125C>T	not provided [RCV001695457]	benign	10	12118624	12118625	Human	2	name
150461630	CV1272907	single nucleotide variant	NM_018706.7(DHTKD1):c.2403-142T>C	not provided [RCV001693662]	benign	10	12118607	12118607	Human		name
150463988	CV1276307	single nucleotide variant	NM_018706.7(DHTKD1):c.2659-235A>G	not provided [RCV001710252]	benign	10	12120552	12120552	Human		name
150467113	CV1277516	single nucleotide variant	NM_018706.7(DHTKD1):c.2403-152T>C	not provided [RCV001710811]	benign	10	12118597	12118597	Human		name
150491453	CV1280387	single nucleotide variant	NM_018706.7(DHTKD1):c.2403-217G>A	not provided [RCV001716644]	benign	10	12118532	12118532	Human		name
150471725	CV1281055	single nucleotide variant	NM_018706.7(DHTKD1):c.2403-176A>G	not provided [RCV001713244]	benign	10	12118573	12118573	Human		name
126738766	CV1000687	single nucleotide variant	NM_018706.7(DHTKD1):c.9T>A (p.Ser3=)	2-aminoadipic 2-oxoadipic aciduria [RCV003528288]\|not provided [RCV001312147]	likely benign	10	12069042	12069042	Human	1	name
597956124	CV3838140	single nucleotide variant	NM_018706.7(DHTKD1):c.6C>T (p.Ala2=)	2-aminoadipic 2-oxoadipic aciduria [RCV005191515]	likely benign	10	12069039	12069039	Human	1	name
15191595	CV701216	variation	NM_018706.7(DHTKD1):c.58= (p.Phe20=)	2-aminoadipic 2-oxoadipic aciduria [RCV000954823]	benign	10	12069091	12069091	Human		name
21071892	CV790942	insertion	NM_018706.7(DHTKD1):c.2154_2154+1insT	2-aminoadipic 2-oxoadipic aciduria [RCV000988328]	likely pathogenic	10	12108015	12108016	Human	1	name
126740147	CV1020689	single nucleotide variant	NM_018706.7(DHTKD1):c.2T>G (p.Met1Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003528939]	pathogenic\|uncertain significance	10	12069035	12069035	Human	1	name
127288113	CV1152428	single nucleotide variant	NM_018706.7(DHTKD1):c.8C>G (p.Ser3Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV002567988]\|not provided [RCV001508291]	uncertain significance	10	12069041	12069041	Human	1	name
151351224	CV1321148	microsatellite	NM_018706.7(DHTKD1):c.2659-3_2659-2del	2-aminoadipic 2-oxoadipic aciduria [RCV002074154]\|Inborn genetic diseases [RCV002542332]\|not provided [RCV001810805]\|not specified [RCV003226492]	likely benign\|uncertain significance	10	12120782	12120783	Human		name
152072983	CV1615324	single nucleotide variant	NM_018706.7(DHTKD1):c.36C>A (p.Gly12=)	2-aminoadipic 2-oxoadipic aciduria [RCV002091845]	likely benign	10	12069069	12069069	Human	1	name
405269114	CV3201281	single nucleotide variant	NM_018706.7(DHTKD1):c.57C>T (p.Leu19=)	DHTKD1-related disorder [RCV003899386]	likely benign	10	12069090	12069090	Human		name , trait , alternate_id
597858729	CV3817067	single nucleotide variant	NM_018706.7(DHTKD1):c.93C>T (p.Tyr31=)	2-aminoadipic 2-oxoadipic aciduria [RCV005146448]	likely benign	10	12069126	12069126	Human	1	name
598216609	CV3895219	single nucleotide variant	NM_018706.7(DHTKD1):c.4G>A (p.Ala2Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV005360124]	uncertain significance	10	12069037	12069037	Human	1	name
8570507	CV48162	single nucleotide variant	NM_018706.7(DHTKD1):c.1A>G (p.Met1Val)	2-aminoadipic 2-oxoadipic aciduria [RCV000032763]\|Charcot-Marie-Tooth disease type 2A2 [RCV003447098]	pathogenic\|uncertain significance	10	12069034	12069034	Human	2	name
15103018	CV723801	single nucleotide variant	NM_018706.7(DHTKD1):c.33G>A (p.Arg11=)	2-aminoadipic 2-oxoadipic aciduria [RCV000892590]\|not provided [RCV001701238]	likely benign	10	12069066	12069066	Human	1	name
151890568	CV1350581	single nucleotide variant	NM_018706.7(DHTKD1):c.100C>A (p.Arg34=)	2-aminoadipic 2-oxoadipic aciduria [RCV002038850]	likely benign\|uncertain significance	10	12069133	12069133	Human	1	name
151767725	CV1444337	single nucleotide variant	NM_018706.7(DHTKD1):c.22G>A (p.Ala8Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV001949854]	uncertain significance	10	12069055	12069055	Human	1	name
152092314	CV1530877	single nucleotide variant	NM_018706.7(DHTKD1):c.243C>T (p.Ala81=)	2-aminoadipic 2-oxoadipic aciduria [RCV002114244]	likely benign	10	12081560	12081560	Human	1	name
152124414	CV1553866	single nucleotide variant	NM_018706.7(DHTKD1):c.294A>C (p.Gly98=)	2-aminoadipic 2-oxoadipic aciduria [RCV002098608]	likely benign	10	12081611	12081611	Human	1	name
152120084	CV1659376	single nucleotide variant	NM_018706.7(DHTKD1):c.255T>C (p.Asn85=)	2-aminoadipic 2-oxoadipic aciduria [RCV002175453]	likely benign	10	12081572	12081572	Human	1	name
156404602	CV1898325	single nucleotide variant	NM_018706.7(DHTKD1):c.114C>T (p.Pro38=)	2-aminoadipic 2-oxoadipic aciduria [RCV002585445]	likely benign	10	12069147	12069147	Human	1	name
156091013	CV2155657	single nucleotide variant	NM_018706.7(DHTKD1):c.258G>T (p.Val86=)	2-aminoadipic 2-oxoadipic aciduria [RCV003020684]	likely benign	10	12081575	12081575	Human	1	name
329952556	CV2669965	insertion	NM_018706.7(DHTKD1):c.2319+2_2319+3insC	not provided [RCV003233178]	uncertain significance	10	12113066	12113067	Human		name
402478590	CV3039865	single nucleotide variant	NM_018706.7(DHTKD1):c.153A>T (p.Pro51=)	2-aminoadipic 2-oxoadipic aciduria [RCV003642432]	uncertain significance	10	12069186	12069186	Human	1	name
402479998	CV3047254	single nucleotide variant	NM_018706.7(DHTKD1):c.258G>A (p.Val86=)	2-aminoadipic 2-oxoadipic aciduria [RCV003642505]	likely benign	10	12081575	12081575	Human	1	name
405216501	CV3143227	single nucleotide variant	NM_018706.7(DHTKD1):c.279G>A (p.Val93=)	2-aminoadipic 2-oxoadipic aciduria [RCV003846390]	likely benign	10	12081596	12081596	Human	1	name
597871249	CV3805976	single nucleotide variant	NM_018706.7(DHTKD1):c.192T>C (p.Cys64=)	2-aminoadipic 2-oxoadipic aciduria [RCV005148386]	likely benign	10	12081509	12081509	Human	1	name
597945538	CV3807359	single nucleotide variant	NM_018706.7(DHTKD1):c.285A>G (p.Thr95=)	2-aminoadipic 2-oxoadipic aciduria [RCV005159994]	likely benign	10	12081602	12081602	Human	1	name
597968891	CV3821295	single nucleotide variant	NM_018706.7(DHTKD1):c.138C>T (p.Ala46=)	2-aminoadipic 2-oxoadipic aciduria [RCV005165937]	likely benign	10	12069171	12069171	Human	1	name
597972470	CV3823349	single nucleotide variant	NM_018706.7(DHTKD1):c.105G>A (p.Pro35=)	2-aminoadipic 2-oxoadipic aciduria [RCV005167445]	likely benign	10	12069138	12069138	Human	1	name
597867337	CV3858151	single nucleotide variant	NM_018706.7(DHTKD1):c.246G>A (p.Leu82=)	2-aminoadipic 2-oxoadipic aciduria [RCV005196894]	likely benign	10	12081563	12081563	Human	1	name
15191598	CV701219	variation	NM_018706.7(DHTKD1):c.1911= (p.Pro637=)	2-aminoadipic 2-oxoadipic aciduria [RCV000954824]	benign	10	12106260	12106260	Human		name
15191601	CV701220	variation	NM_018706.7(DHTKD1):c.1938= (p.Phe646=)	2-aminoadipic 2-oxoadipic aciduria [RCV000954825]	benign	10	12106287	12106287	Human		name
15194957	CV723802	single nucleotide variant	NM_018706.7(DHTKD1):c.234C>T (p.Thr78=)	2-aminoadipic 2-oxoadipic aciduria [RCV000889364]\|DHTKD1-related disorder [RCV003957922]	benign\|likely benign	10	12081551	12081551	Human	1	name , trait , alternate_id
15201974	CV751991	single nucleotide variant	NM_018706.7(DHTKD1):c.102G>A (p.Arg34=)	2-aminoadipic 2-oxoadipic aciduria [RCV002065847]	likely benign	10	12069135	12069135	Human	1	name
15169624	CV751992	single nucleotide variant	NM_018706.7(DHTKD1):c.126G>A (p.Glu42=)	not provided [RCV000927536]	likely benign	10	12069159	12069159	Human		name
15157349	CV751993	single nucleotide variant	NM_018706.7(DHTKD1):c.156T>C (p.Val52=)	2-aminoadipic 2-oxoadipic aciduria [RCV002066012]	likely benign	10	12081473	12081473	Human	1	name
15126427	CV783549	single nucleotide variant	NM_018706.7(DHTKD1):c.135C>A (p.Gly45=)	not provided [RCV000980368]	likely benign	10	12069168	12069168	Human		name
126747111	CV1017264	single nucleotide variant	NM_018706.7(DHTKD1):c.71A>G (p.Tyr24Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV001331065]\|not provided [RCV002291298]	uncertain significance	10	12069104	12069104	Human	1	name
127311324	CV1156363	single nucleotide variant	NM_018706.7(DHTKD1):c.58T>C (p.Phe20Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV001518570]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV001658216]\|not provided [RCV004718861]\|not specified [RCV001700771]	benign	10	12069091	12069091	Human	2	name
127318356	CV1156365	single nucleotide variant	NM_018706.7(DHTKD1):c.951C>T (p.Asn317=)	2-aminoadipic 2-oxoadipic aciduria [RCV001521617]\|not provided [RCV001647314]\|not specified [RCV001530126]	benign	10	12089219	12089219	Human	1	name
151352363	CV1321311	single nucleotide variant	NM_018706.7(DHTKD1):c.387G>A (p.Gln129=)	not provided [RCV001811766]	likely benign	10	12084616	12084616	Human		name
151827098	CV1359887	single nucleotide variant	NM_018706.7(DHTKD1):c.408A>G (p.Gln136=)	2-aminoadipic 2-oxoadipic aciduria [RCV002050352]	likely benign\|uncertain significance	10	12084637	12084637	Human	1	name
151859802	CV1373958	single nucleotide variant	NM_018706.7(DHTKD1):c.306G>A (p.Thr102=)	2-aminoadipic 2-oxoadipic aciduria [RCV001938394]\|not provided [RCV003222366]	likely benign\|uncertain significance	10	12081623	12081623	Human	1	name
151830506	CV1384449	single nucleotide variant	NM_018706.7(DHTKD1):c.64C>A (p.Arg22Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV001955636]\|Inborn genetic diseases [RCV004975955]\|not provided [RCV003120768]	uncertain significance	10	12069097	12069097	Human	2	name
151791759	CV1422796	duplication	NM_018706.7(DHTKD1):c.186dup (p.Tyr63fs)	2-aminoadipic 2-oxoadipic aciduria [RCV001916888]	pathogenic	10	12081502	12081503	Human	1	name
151848290	CV1484157	single nucleotide variant	NM_018706.7(DHTKD1):c.576C>T (p.Gly192=)	2-aminoadipic 2-oxoadipic aciduria [RCV001903746]	likely benign\|uncertain significance	10	12087588	12087588	Human	1	name
152056671	CV1523075	deletion	NM_018706.7(DHTKD1):c.2048-32_2048-10del	2-aminoadipic 2-oxoadipic aciduria [RCV002167524]	likely benign	10	12107874	12107896	Human	1	name
152097260	CV1536875	single nucleotide variant	NM_018706.7(DHTKD1):c.627G>A (p.Ser209=)	2-aminoadipic 2-oxoadipic aciduria [RCV002213531]\|not provided [RCV003222386]	likely benign	10	12087639	12087639	Human	1	name
152114651	CV1537369	single nucleotide variant	NM_018706.7(DHTKD1):c.780C>T (p.Asp260=)	2-aminoadipic 2-oxoadipic aciduria [RCV002134940]	likely benign	10	12089048	12089048	Human	1	name
152158606	CV1542040	single nucleotide variant	NM_018706.7(DHTKD1):c.636C>T (p.Ser212=)	2-aminoadipic 2-oxoadipic aciduria [RCV002103356]	likely benign	10	12087648	12087648	Human	1	name
152044911	CV1556033	single nucleotide variant	NM_018706.7(DHTKD1):c.543C>T (p.Ala181=)	2-aminoadipic 2-oxoadipic aciduria [RCV002206815]	likely benign	10	12087555	12087555	Human	1	name
152057435	CV1567298	single nucleotide variant	NM_018706.7(DHTKD1):c.744A>G (p.Leu248=)	2-aminoadipic 2-oxoadipic aciduria [RCV002146399]\|not provided [RCV004809793]	likely benign	10	12089012	12089012	Human	1	name
152112909	CV1573391	single nucleotide variant	NM_018706.7(DHTKD1):c.963G>A (p.Pro321=)	2-aminoadipic 2-oxoadipic aciduria [RCV002215736]	likely benign	10	12089231	12089231	Human	1	name
152144636	CV1576487	single nucleotide variant	NM_018706.7(DHTKD1):c.495T>C (p.His165=)	2-aminoadipic 2-oxoadipic aciduria [RCV002101272]	likely benign	10	12084724	12084724	Human	1	name
152028649	CV1587085	single nucleotide variant	NM_018706.7(DHTKD1):c.684T>C (p.Asn228=)	2-aminoadipic 2-oxoadipic aciduria [RCV002085533]	likely benign	10	12087696	12087696	Human	1	name
152152875	CV1609982	single nucleotide variant	NM_018706.7(DHTKD1):c.315A>G (p.Leu105=)	2-aminoadipic 2-oxoadipic aciduria [RCV002179725]	likely benign	10	12084544	12084544	Human	1	name
152054605	CV1610016	single nucleotide variant	NM_018706.7(DHTKD1):c.906C>T (p.Arg302=)	2-aminoadipic 2-oxoadipic aciduria [RCV002167276]	likely benign	10	12089174	12089174	Human	1	name
152103770	CV1625547	single nucleotide variant	NM_018706.7(DHTKD1):c.600C>T (p.Gly200=)	2-aminoadipic 2-oxoadipic aciduria [RCV002152127]	likely benign	10	12087612	12087612	Human	1	name
152040031	CV1644514	single nucleotide variant	NM_018706.7(DHTKD1):c.891C>G (p.Ala297=)	2-aminoadipic 2-oxoadipic aciduria [RCV002165548]	likely benign	10	12089159	12089159	Human	1	name
155694800	CV1779802	single nucleotide variant	NM_018706.7(DHTKD1):c.46G>A (p.Ala16Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV002295136]	uncertain significance	10	12069079	12069079	Human	1	name
156198337	CV1916589	single nucleotide variant	NM_018706.7(DHTKD1):c.765C>T (p.Phe255=)	2-aminoadipic 2-oxoadipic aciduria [RCV002595611]	likely benign	10	12089033	12089033	Human	1	name
156418582	CV1922355	single nucleotide variant	NM_018706.7(DHTKD1):c.846A>C (p.Thr282=)	2-aminoadipic 2-oxoadipic aciduria [RCV002611781]	likely benign	10	12089114	12089114	Human	1	name
156379515	CV1927414	single nucleotide variant	NM_018706.7(DHTKD1):c.837C>G (p.Leu279=)	2-aminoadipic 2-oxoadipic aciduria [RCV002634154]	likely benign	10	12089105	12089105	Human	1	name
156066545	CV1927884	single nucleotide variant	NM_018706.7(DHTKD1):c.867C>T (p.His289=)	2-aminoadipic 2-oxoadipic aciduria [RCV002638461]	likely benign	10	12089135	12089135	Human	1	name
156437634	CV1947642	single nucleotide variant	NM_018706.7(DHTKD1):c.52C>T (p.Pro18Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV003107174]	uncertain significance	10	12069085	12069085	Human	1	name
156301738	CV1955609	single nucleotide variant	NM_018706.7(DHTKD1):c.963G>T (p.Pro321=)	2-aminoadipic 2-oxoadipic aciduria [RCV002578256]	likely benign	10	12089231	12089231	Human	1	name
156412258	CV1970384	single nucleotide variant	NM_018706.7(DHTKD1):c.846A>G (p.Thr282=)	2-aminoadipic 2-oxoadipic aciduria [RCV002608489]	likely benign	10	12089114	12089114	Human	1	name
156057752	CV1999736	single nucleotide variant	NM_018706.7(DHTKD1):c.41G>C (p.Gly14Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV002659580]	uncertain significance	10	12069074	12069074	Human	1	name
156128999	CV2001854	single nucleotide variant	NM_018706.7(DHTKD1):c.447G>T (p.Arg149=)	2-aminoadipic 2-oxoadipic aciduria [RCV002663146]	likely benign	10	12084676	12084676	Human	1	name
155905658	CV2007337	single nucleotide variant	NM_018706.7(DHTKD1):c.606C>T (p.Phe202=)	2-aminoadipic 2-oxoadipic aciduria [RCV002681377]	likely benign	10	12087618	12087618	Human	1	name
156055547	CV2023850	single nucleotide variant	NM_018706.7(DHTKD1):c.984A>G (p.Leu328=)	2-aminoadipic 2-oxoadipic aciduria [RCV002736652]	likely benign	10	12089252	12089252	Human	1	name
156190577	CV2037927	single nucleotide variant	NM_018706.7(DHTKD1):c.94G>A (p.Gly32Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV002765897]	uncertain significance	10	12069127	12069127	Human	1	name
156006929	CV2042353	single nucleotide variant	NM_018706.7(DHTKD1):c.909C>T (p.Gly303=)	2-aminoadipic 2-oxoadipic aciduria [RCV002794893]	likely benign	10	12089177	12089177	Human	1	name
156027137	CV2100502	deletion	NM_018706.7(DHTKD1):c.2402+18_2402+19del	2-aminoadipic 2-oxoadipic aciduria [RCV002885233]	likely benign	10	12117772	12117773	Human	1	name
156270343	CV2102919	single nucleotide variant	NM_018706.7(DHTKD1):c.40G>C (p.Gly14Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV002895901]\|Inborn genetic diseases [RCV004066114]	uncertain significance	10	12069073	12069073	Human	2	name
156379778	CV2117885	single nucleotide variant	NM_018706.7(DHTKD1):c.471G>A (p.Thr157=)	2-aminoadipic 2-oxoadipic aciduria [RCV002943050]	likely benign	10	12084700	12084700	Human	1	name
156159021	CV2118520	single nucleotide variant	NM_018706.7(DHTKD1):c.40G>T (p.Gly14Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV002929172]\|Inborn genetic diseases [RCV004973767]	uncertain significance	10	12069073	12069073	Human	2	name
156301820	CV2129535	single nucleotide variant	NM_018706.7(DHTKD1):c.891C>T (p.Ala297=)	2-aminoadipic 2-oxoadipic aciduria [RCV002962178]\|not provided [RCV003418675]	likely benign	10	12089159	12089159	Human	1	name
156290948	CV2156244	single nucleotide variant	NM_018706.7(DHTKD1):c.868C>T (p.Leu290=)	2-aminoadipic 2-oxoadipic aciduria [RCV003009966]	likely benign	10	12089136	12089136	Human	1	name
156245558	CV2178006	deletion	NM_018706.7(DHTKD1):c.1756+23_1756+34del	2-aminoadipic 2-oxoadipic aciduria [RCV003043602]	likely benign	10	12100276	12100287	Human	1	name
405026945	CV2879979	single nucleotide variant	NM_018706.7(DHTKD1):c.879C>G (p.Val293=)	2-aminoadipic 2-oxoadipic aciduria [RCV003529066]	likely benign	10	12089147	12089147	Human	1	name
405030614	CV2883517	single nucleotide variant	NM_018706.7(DHTKD1):c.825G>A (p.Ala275=)	2-aminoadipic 2-oxoadipic aciduria [RCV003529394]\|DHTKD1-related disorder [RCV003966522]	likely benign	10	12089093	12089093	Human	1	name , trait , alternate_id
405031252	CV2890863	single nucleotide variant	NM_018706.7(DHTKD1):c.501G>A (p.Ser167=)	2-aminoadipic 2-oxoadipic aciduria [RCV003529446]	likely benign	10	12084730	12084730	Human	1	name
402484619	CV2944662	single nucleotide variant	NM_018706.7(DHTKD1):c.489A>C (p.Arg163=)	2-aminoadipic 2-oxoadipic aciduria [RCV003643154]	likely benign	10	12084718	12084718	Human	1	name
402489578	CV2975906	single nucleotide variant	NM_018706.7(DHTKD1):c.486G>A (p.Glu162=)	2-aminoadipic 2-oxoadipic aciduria [RCV003643685]	likely benign	10	12084715	12084715	Human	1	name
402490480	CV2987469	single nucleotide variant	NM_018706.7(DHTKD1):c.819T>C (p.Phe273=)	2-aminoadipic 2-oxoadipic aciduria [RCV003643776]	likely benign	10	12089087	12089087	Human	1	name
402492646	CV2994996	single nucleotide variant	NM_018706.7(DHTKD1):c.714A>G (p.Pro238=)	2-aminoadipic 2-oxoadipic aciduria [RCV003644004]	likely benign	10	12087726	12087726	Human	1	name
402493589	CV2996797	single nucleotide variant	NM_018706.7(DHTKD1):c.49C>T (p.Leu17Phe)	2-aminoadipic 2-oxoadipic aciduria [RCV003644105]	uncertain significance	10	12069082	12069082	Human	1	name
402493720	CV3000633	deletion	NM_018706.7(DHTKD1):c.1756+23_1756+39del	2-aminoadipic 2-oxoadipic aciduria [RCV003644120]	likely benign	10	12100275	12100291	Human	1	name
402486541	CV3073676	single nucleotide variant	NM_018706.7(DHTKD1):c.447G>A (p.Arg149=)	2-aminoadipic 2-oxoadipic aciduria [RCV003643370]	likely benign	10	12084676	12084676	Human	1	name
405012953	CV3128235	single nucleotide variant	NM_018706.7(DHTKD1):c.885C>T (p.Pro295=)	2-aminoadipic 2-oxoadipic aciduria [RCV003829115]	likely benign	10	12089153	12089153	Human	1	name
405190236	CV3149636	single nucleotide variant	NM_018706.7(DHTKD1):c.963G>C (p.Pro321=)	2-aminoadipic 2-oxoadipic aciduria [RCV003843362]	likely benign	10	12089231	12089231	Human	1	name
405219494	CV3154247	single nucleotide variant	NM_018706.7(DHTKD1):c.933C>T (p.Gly311=)	2-aminoadipic 2-oxoadipic aciduria [RCV003846939]	likely benign	10	12089201	12089201	Human	1	name
405206014	CV3161924	single nucleotide variant	NM_018706.7(DHTKD1):c.531C>T (p.Asp177=)	2-aminoadipic 2-oxoadipic aciduria [RCV003861418]	likely benign	10	12087543	12087543	Human	1	name
405128767	CV3163275	single nucleotide variant	NM_018706.7(DHTKD1):c.792C>T (p.His264=)	2-aminoadipic 2-oxoadipic aciduria [RCV003854456]	likely benign	10	12089060	12089060	Human	1	name
402502350	CV3181057	microsatellite	NM_018706.7(DHTKD1):c.2659-18_2659-16del	2-aminoadipic 2-oxoadipic aciduria [RCV003878074]	likely benign	10	12120765	12120767	Human		name
405710738	CV3225808	single nucleotide variant	NM_018706.7(DHTKD1):c.63G>T (p.Trp21Cys)	Charcot-Marie-Tooth disease axonal type 2Q [RCV003990866]	uncertain significance	10	12069096	12069096	Human	1	name
407467227	CV3434100	single nucleotide variant	NM_018706.7(DHTKD1):c.55C>G (p.Leu19Val)	Inborn genetic diseases [RCV004614161]	uncertain significance	10	12069088	12069088	Human	1	name
597934471	CV3750484	single nucleotide variant	NM_018706.7(DHTKD1):c.564G>A (p.Lys188=)	2-aminoadipic 2-oxoadipic aciduria [RCV005076409]	likely benign	10	12087576	12087576	Human	1	name
597844392	CV3752606	single nucleotide variant	NM_018706.7(DHTKD1):c.35G>T (p.Gly12Val)	2-aminoadipic 2-oxoadipic aciduria [RCV005087012]	uncertain significance	10	12069068	12069068	Human	1	name
597911342	CV3778248	single nucleotide variant	NM_018706.7(DHTKD1):c.966G>C (p.Gly322=)	2-aminoadipic 2-oxoadipic aciduria [RCV005128787]	likely benign	10	12089234	12089234	Human	1	name
597942597	CV3779954	single nucleotide variant	NM_018706.7(DHTKD1):c.897C>T (p.Gly299=)	2-aminoadipic 2-oxoadipic aciduria [RCV005118963]	likely benign	10	12089165	12089165	Human	1	name
597968356	CV3794979	single nucleotide variant	NM_018706.7(DHTKD1):c.696C>G (p.Gly232=)	2-aminoadipic 2-oxoadipic aciduria [RCV005140947]	likely benign	10	12087708	12087708	Human	1	name
597956607	CV3817988	single nucleotide variant	NM_018706.7(DHTKD1):c.558A>G (p.Thr186=)	2-aminoadipic 2-oxoadipic aciduria [RCV005162439]	likely benign	10	12087570	12087570	Human	1	name
597968882	CV3821292	single nucleotide variant	NM_018706.7(DHTKD1):c.417C>T (p.Ser139=)	2-aminoadipic 2-oxoadipic aciduria [RCV005165934]	likely benign	10	12084646	12084646	Human	1	name
597837983	CV3828895	single nucleotide variant	NM_018706.7(DHTKD1):c.74A>C (p.Gln25Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV005171588]	uncertain significance	10	12069107	12069107	Human	1	name
597896356	CV3834584	single nucleotide variant	NM_018706.7(DHTKD1):c.834C>G (p.Pro278=)	2-aminoadipic 2-oxoadipic aciduria [RCV005180495]	likely benign	10	12089102	12089102	Human	1	name
597884470	CV3834948	single nucleotide variant	NM_018706.7(DHTKD1):c.330G>A (p.Lys110=)	2-aminoadipic 2-oxoadipic aciduria [RCV005178672]	likely benign	10	12084559	12084559	Human	1	name
597963782	CV3837754	microsatellite	NM_018706.7(DHTKD1):c.1359-13_1359-12del	2-aminoadipic 2-oxoadipic aciduria [RCV005193736]	likely benign	10	12097668	12097669	Human		name
597891814	CV3840191	single nucleotide variant	NM_018706.7(DHTKD1):c.501G>T (p.Ser167=)	2-aminoadipic 2-oxoadipic aciduria [RCV005179890]	likely benign	10	12084730	12084730	Human	1	name
597924681	CV3840452	single nucleotide variant	NM_018706.7(DHTKD1):c.888G>A (p.Val296=)	2-aminoadipic 2-oxoadipic aciduria [RCV005184922]	likely benign	10	12089156	12089156	Human	1	name
597953715	CV3844248	single nucleotide variant	NM_018706.7(DHTKD1):c.736C>A (p.Arg246=)	2-aminoadipic 2-oxoadipic aciduria [RCV005190920]	likely benign	10	12089004	12089004	Human	1	name
597948825	CV3848757	single nucleotide variant	NM_018706.7(DHTKD1):c.300C>T (p.Phe100=)	2-aminoadipic 2-oxoadipic aciduria [RCV005189694]	likely benign	10	12081617	12081617	Human	1	name
597861217	CV3850753	single nucleotide variant	NM_018706.7(DHTKD1):c.498G>A (p.Leu166=)	2-aminoadipic 2-oxoadipic aciduria [RCV005195886]	likely benign	10	12084727	12084727	Human	1	name
597861767	CV3850831	single nucleotide variant	NM_018706.7(DHTKD1):c.700C>T (p.Leu234=)	2-aminoadipic 2-oxoadipic aciduria [RCV005195964]	likely benign	10	12087712	12087712	Human	1	name
617152933	CV4018498	deletion	NM_018706.7(DHTKD1):c.247del (p.Leu83fs)	2-aminoadipic 2-oxoadipic aciduria [RCV005418759]	pathogenic	10	12081564	12081564	Human	1	name
13535411	CV503146	single nucleotide variant	NM_018706.7(DHTKD1):c.555G>A (p.Ser185=)	2-aminoadipic 2-oxoadipic aciduria [RCV002529526]\|not specified [RCV000607754]	likely benign	10	12087567	12087567	Human	1	name
15157872	CV723803	single nucleotide variant	NM_018706.7(DHTKD1):c.609C>T (p.His203=)	2-aminoadipic 2-oxoadipic aciduria [RCV000880899]	benign	10	12087621	12087621	Human	1	name
15195085	CV723805	single nucleotide variant	NM_018706.7(DHTKD1):c.930C>T (p.Asp310=)	2-aminoadipic 2-oxoadipic aciduria [RCV000889404]	likely benign	10	12089198	12089198	Human	1	name
15155435	CV737374	single nucleotide variant	NM_018706.7(DHTKD1):c.543C>A (p.Ala181=)	2-aminoadipic 2-oxoadipic aciduria [RCV002065700]	likely benign	10	12087555	12087555	Human	1	name
15186585	CV737375	single nucleotide variant	NM_018706.7(DHTKD1):c.945A>G (p.Pro315=)	2-aminoadipic 2-oxoadipic aciduria [RCV002065781]	likely benign	10	12089213	12089213	Human	1	name
15126657	CV751994	single nucleotide variant	NM_018706.7(DHTKD1):c.369T>C (p.Asn123=)	2-aminoadipic 2-oxoadipic aciduria [RCV002065929]	benign	10	12084598	12084598	Human	1	name
21405430	CV799598	single nucleotide variant	NM_018706.7(DHTKD1):c.876C>T (p.Ala292=)	2-aminoadipic 2-oxoadipic aciduria [RCV002068753]\|DHTKD1-related disorder [RCV003953416]\|not specified [RCV001000442]	likely benign	10	12089144	12089144	Human	1	name , trait , alternate_id
127288115	CV1152429	single nucleotide variant	NM_018706.7(DHTKD1):c.127C>A (p.Pro43Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV002567989]\|not provided [RCV001508292]	uncertain significance	10	12069160	12069160	Human	1	name
127322200	CV1156366	single nucleotide variant	NM_018706.7(DHTKD1):c.1560C>T (p.Thr520=)	2-aminoadipic 2-oxoadipic aciduria [RCV001523421]\|not provided [RCV004718880]	benign	10	12097885	12097885	Human	1	name
127320447	CV1156369	single nucleotide variant	NM_018706.7(DHTKD1):c.1911A>C (p.Pro637=)	2-aminoadipic 2-oxoadipic aciduria [RCV001522638]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV001658231]\|not provided [RCV004718878]\|not specified [RCV001699804]	benign	10	12106260	12106260	Human	2	name
127320451	CV1156370	single nucleotide variant	NM_018706.7(DHTKD1):c.1938T>C (p.Phe646=)	2-aminoadipic 2-oxoadipic aciduria [RCV001522639]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV001658232]\|not provided [RCV004718879]\|not specified [RCV001699805]	benign	10	12106287	12106287	Human	2	name
127320453	CV1156372	single nucleotide variant	NM_018706.7(DHTKD1):c.2079C>T (p.Ile693=)	2-aminoadipic 2-oxoadipic aciduria [RCV001522640]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV001658233]\|not provided [RCV001696236]\|not specified [RCV001528823]	benign	10	12107940	12107940	Human	2	name
150478763	CV1218843	deletion	NM_018706.7(DHTKD1):c.2402+93_2402+114del	not provided [RCV001616471]	benign	10	12117847	12117868	Human		name
150489548	CV1238962	deletion	NM_018706.7(DHTKD1):c.2402+93_2402+104del	not provided [RCV001654530]	benign	10	12117847	12117858	Human		name
150445565	CV1269455	deletion	NM_018706.7(DHTKD1):c.2402+93_2402+118del	not provided [RCV001691143]	benign	10	12117847	12117872	Human		name
150552772	CV1307247	single nucleotide variant	NM_018706.7(DHTKD1):c.240A>C (p.Gln80His)	2-aminoadipic 2-oxoadipic aciduria [RCV003772096]\|not provided [RCV001768359]	uncertain significance	10	12081557	12081557	Human	1	name
151867641	CV1348603	single nucleotide variant	NM_018706.7(DHTKD1):c.115G>A (p.Glu39Lys)	2-aminoadipic 2-oxoadipic aciduria [RCV001924804]	uncertain significance	10	12069148	12069148	Human	1	name
151839389	CV1368766	single nucleotide variant	NM_018706.7(DHTKD1):c.188A>T (p.Tyr63Phe)	2-aminoadipic 2-oxoadipic aciduria [RCV002015143]	uncertain significance	10	12081505	12081505	Human	1	name
151877011	CV1395336	single nucleotide variant	NM_018706.7(DHTKD1):c.1980G>T (p.Leu660=)	2-aminoadipic 2-oxoadipic aciduria [RCV002019659]	likely benign	10	12106329	12106329	Human	1	name
151840174	CV1415344	single nucleotide variant	NM_018706.7(DHTKD1):c.229T>G (p.Phe77Val)	2-aminoadipic 2-oxoadipic aciduria [RCV001921440]	uncertain significance	10	12081546	12081546	Human	1	name
151838030	CV1469987	single nucleotide variant	NM_018706.7(DHTKD1):c.128C>G (p.Pro43Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV001881012]\|Inborn genetic diseases [RCV005330965]	uncertain significance	10	12069161	12069161	Human	2	name
152069553	CV1526571	single nucleotide variant	NM_018706.7(DHTKD1):c.2520C>T (p.Pro840=)	2-aminoadipic 2-oxoadipic aciduria [RCV002074912]	likely benign	10	12118866	12118866	Human	1	name
152106135	CV1527308	single nucleotide variant	NM_018706.7(DHTKD1):c.2370G>A (p.Pro790=)	2-aminoadipic 2-oxoadipic aciduria [RCV002079635]	likely benign	10	12117723	12117723	Human	1	name
152090983	CV1532018	single nucleotide variant	NM_018706.7(DHTKD1):c.2667G>A (p.Leu889=)	2-aminoadipic 2-oxoadipic aciduria [RCV002077708]	likely benign	10	12120795	12120795	Human	1	name
152051664	CV1538771	single nucleotide variant	NM_018706.7(DHTKD1):c.1113C>A (p.Thr371=)	2-aminoadipic 2-oxoadipic aciduria [RCV002189487]	likely benign	10	12091638	12091638	Human	1	name
152144487	CV1543138	single nucleotide variant	NM_018706.7(DHTKD1):c.1695C>T (p.Asp565=)	2-aminoadipic 2-oxoadipic aciduria [RCV002178512]\|DHTKD1-related disorder [RCV003926282]	benign\|likely benign	10	12100201	12100201	Human	1	name , trait , alternate_id
152121905	CV1562579	single nucleotide variant	NM_018706.7(DHTKD1):c.2016C>T (p.Ala672=)	2-aminoadipic 2-oxoadipic aciduria [RCV002098270]	likely benign	10	12106365	12106365	Human	1	name
152089719	CV1563143	single nucleotide variant	NM_018706.7(DHTKD1):c.1371C>T (p.Ser457=)	2-aminoadipic 2-oxoadipic aciduria [RCV002113907]	likely benign	10	12097696	12097696	Human	1	name
152077492	CV1564689	single nucleotide variant	NM_018706.7(DHTKD1):c.1533C>T (p.Gly511=)	2-aminoadipic 2-oxoadipic aciduria [RCV002192607]	likely benign	10	12097858	12097858	Human	1	name
152050824	CV1569131	single nucleotide variant	NM_018706.7(DHTKD1):c.1656G>A (p.Leu552=)	2-aminoadipic 2-oxoadipic aciduria [RCV002207501]	likely benign	10	12097981	12097981	Human	1	name
152068481	CV1571199	single nucleotide variant	NM_018706.7(DHTKD1):c.2427C>T (p.Ser809=)	2-aminoadipic 2-oxoadipic aciduria [RCV002129288]	likely benign	10	12118773	12118773	Human	1	name
152140724	CV1571228	single nucleotide variant	NM_018706.7(DHTKD1):c.2022C>T (p.Ile674=)	2-aminoadipic 2-oxoadipic aciduria [RCV002138141]	likely benign	10	12106371	12106371	Human	1	name
152101487	CV1578898	single nucleotide variant	NM_018706.7(DHTKD1):c.2652C>T (p.Ala884=)	2-aminoadipic 2-oxoadipic aciduria [RCV002079054]	likely benign	10	12120261	12120261	Human	1	name
152175355	CV1586387	single nucleotide variant	NM_018706.7(DHTKD1):c.1596G>A (p.Arg532=)	2-aminoadipic 2-oxoadipic aciduria [RCV002184859]	likely benign	10	12097921	12097921	Human	1	name
152113057	CV1586584	single nucleotide variant	NM_018706.7(DHTKD1):c.2445C>T (p.Ser815=)	2-aminoadipic 2-oxoadipic aciduria [RCV002197038]	likely benign	10	12118791	12118791	Human	1	name
152087476	CV1590026	single nucleotide variant	NM_018706.7(DHTKD1):c.1839G>A (p.Thr613=)	2-aminoadipic 2-oxoadipic aciduria [RCV002193827]	likely benign	10	12101124	12101124	Human	1	name
152076604	CV1591894	single nucleotide variant	NM_018706.7(DHTKD1):c.1650C>T (p.His550=)	2-aminoadipic 2-oxoadipic aciduria [RCV002112189]\|not provided [RCV003418373]	likely benign	10	12097975	12097975	Human	1	name
152031089	CV1593370	single nucleotide variant	NM_018706.7(DHTKD1):c.2250G>A (p.Arg750=)	2-aminoadipic 2-oxoadipic aciduria [RCV002106075]\|not provided [RCV003883783]	likely benign	10	12112995	12112995	Human	1	name
152158830	CV1595240	single nucleotide variant	NM_018706.7(DHTKD1):c.2031C>T (p.Asp677=)	2-aminoadipic 2-oxoadipic aciduria [RCV002103402]	likely benign	10	12106380	12106380	Human	1	name
152118963	CV1600766	single nucleotide variant	NM_018706.7(DHTKD1):c.2251A>C (p.Arg751=)	2-aminoadipic 2-oxoadipic aciduria [RCV002154009]	likely benign	10	12112996	12112996	Human	1	name
152040165	CV1608878	single nucleotide variant	NM_018706.7(DHTKD1):c.2526G>A (p.Pro842=)	2-aminoadipic 2-oxoadipic aciduria [RCV002107621]	likely benign	10	12118872	12118872	Human	1	name
152055763	CV1610187	single nucleotide variant	NM_018706.7(DHTKD1):c.1191C>G (p.Val397=)	2-aminoadipic 2-oxoadipic aciduria [RCV002167408]	likely benign	10	12094104	12094104	Human	1	name
152088100	CV1614800	single nucleotide variant	NM_018706.7(DHTKD1):c.1884G>A (p.Lys628=)	2-aminoadipic 2-oxoadipic aciduria [RCV002093789]	likely benign	10	12101169	12101169	Human	1	name
152051975	CV1617277	single nucleotide variant	NM_018706.7(DHTKD1):c.1998C>T (p.Gly666=)	2-aminoadipic 2-oxoadipic aciduria [RCV002072494]	likely benign	10	12106347	12106347	Human	1	name
152074518	CV1620409	single nucleotide variant	NM_018706.7(DHTKD1):c.2415C>T (p.Leu805=)	2-aminoadipic 2-oxoadipic aciduria [RCV002111914]	likely benign	10	12118761	12118761	Human	1	name
152048433	CV1627548	single nucleotide variant	NM_018706.7(DHTKD1):c.1407C>T (p.Gly469=)	2-aminoadipic 2-oxoadipic aciduria [RCV002108632]	likely benign	10	12097732	12097732	Human	1	name
152169247	CV1636968	single nucleotide variant	NM_018706.7(DHTKD1):c.1557C>T (p.Ile519=)	2-aminoadipic 2-oxoadipic aciduria [RCV002182727]	likely benign	10	12097882	12097882	Human	1	name
152069301	CV1640153	single nucleotide variant	NM_018706.7(DHTKD1):c.1824G>C (p.Val608=)	2-aminoadipic 2-oxoadipic aciduria [RCV002147856]	likely benign	10	12101109	12101109	Human	1	name
152160364	CV1652034	single nucleotide variant	NM_018706.7(DHTKD1):c.2412C>A (p.Thr804=)	2-aminoadipic 2-oxoadipic aciduria [RCV002180826]	likely benign	10	12118758	12118758	Human	1	name
152068520	CV1654149	single nucleotide variant	NM_018706.7(DHTKD1):c.1719C>T (p.Thr573=)	2-aminoadipic 2-oxoadipic aciduria [RCV002111129]	likely benign	10	12100225	12100225	Human	1	name
155672179	CV1773994	single nucleotide variant	NM_018706.7(DHTKD1):c.155T>C (p.Val52Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV002297562]	uncertain significance	10	12081472	12081472	Human	1	name
156271840	CV1870795	single nucleotide variant	NM_018706.7(DHTKD1):c.235G>A (p.Gly79Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003060747]	uncertain significance	10	12081552	12081552	Human	1	name
156017184	CV1885343	single nucleotide variant	NM_018706.7(DHTKD1):c.1764T>C (p.Asn588=)	2-aminoadipic 2-oxoadipic aciduria [RCV003077428]	likely benign	10	12101049	12101049	Human	1	name
156028107	CV1906894	single nucleotide variant	NM_018706.7(DHTKD1):c.113C>G (p.Pro38Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003100521]	uncertain significance	10	12069146	12069146	Human	1	name
156417572	CV1909841	single nucleotide variant	NM_018706.7(DHTKD1):c.1141T>C (p.Leu381=)	2-aminoadipic 2-oxoadipic aciduria [RCV002610788]	likely benign	10	12091666	12091666	Human	1	name
155960881	CV1912119	single nucleotide variant	NM_018706.7(DHTKD1):c.2088C>T (p.Leu696=)	2-aminoadipic 2-oxoadipic aciduria [RCV002616725]	likely benign	10	12107949	12107949	Human	1	name
156310953	CV1913516	single nucleotide variant	NM_018706.7(DHTKD1):c.2229A>G (p.Ala743=)	2-aminoadipic 2-oxoadipic aciduria [RCV002599652]	likely benign	10	12112974	12112974	Human	1	name
156144732	CV1922862	single nucleotide variant	NM_018706.7(DHTKD1):c.1845C>T (p.Asp615=)	2-aminoadipic 2-oxoadipic aciduria [RCV002623789]	likely benign	10	12101130	12101130	Human	1	name
156154895	CV1931339	single nucleotide variant	NM_018706.7(DHTKD1):c.2619G>A (p.Ser873=)	2-aminoadipic 2-oxoadipic aciduria [RCV002664029]	likely benign	10	12120228	12120228	Human	1	name
156354250	CV1933211	single nucleotide variant	NM_018706.7(DHTKD1):c.227T>C (p.Leu76Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV002651140]	uncertain significance	10	12081544	12081544	Human	1	name
156121273	CV1959439	single nucleotide variant	NM_018706.7(DHTKD1):c.1899C>T (p.Val633=)	2-aminoadipic 2-oxoadipic aciduria [RCV002571875]	likely benign	10	12106248	12106248	Human	1	name
156354646	CV1974958	single nucleotide variant	NM_018706.7(DHTKD1):c.2727G>A (p.Gln909=)	2-aminoadipic 2-oxoadipic aciduria [RCV002602074]	likely benign	10	12120855	12120855	Human	1	name
155995512	CV1986864	single nucleotide variant	NM_018706.7(DHTKD1):c.2527T>C (p.Leu843=)	2-aminoadipic 2-oxoadipic aciduria [RCV002618212]	likely benign	10	12118873	12118873	Human	1	name
156072569	CV1989098	single nucleotide variant	NM_018706.7(DHTKD1):c.1893A>G (p.Leu631=)	2-aminoadipic 2-oxoadipic aciduria [RCV002638644]	likely benign	10	12101178	12101178	Human	1	name
155914476	CV1990373	single nucleotide variant	NM_018706.7(DHTKD1):c.241G>A (p.Ala81Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV002614229]	uncertain significance	10	12081558	12081558	Human	1	name
156397928	CV1990782	single nucleotide variant	NM_018706.7(DHTKD1):c.2634G>A (p.Arg878=)	2-aminoadipic 2-oxoadipic aciduria [RCV002605319]	likely benign	10	12120243	12120243	Human	1	name
156192259	CV1994695	single nucleotide variant	NM_018706.7(DHTKD1):c.1872C>T (p.Asp624=)	2-aminoadipic 2-oxoadipic aciduria [RCV002643349]	likely benign	10	12101157	12101157	Human	1	name
156377211	CV2000428	single nucleotide variant	NM_018706.7(DHTKD1):c.1110C>T (p.Tyr370=)	2-aminoadipic 2-oxoadipic aciduria [RCV002653387]	likely benign	10	12091635	12091635	Human	1	name
156275464	CV2014926	single nucleotide variant	NM_018706.7(DHTKD1):c.1458C>T (p.Ala486=)	2-aminoadipic 2-oxoadipic aciduria [RCV002715124]	likely benign	10	12097783	12097783	Human	1	name
156127690	CV2031402	single nucleotide variant	NM_018706.7(DHTKD1):c.152C>A (p.Pro51Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV002740445]	uncertain significance	10	12069185	12069185	Human	1	name
156136782	CV2032754	single nucleotide variant	NM_018706.7(DHTKD1):c.1461G>A (p.Lys487=)	2-aminoadipic 2-oxoadipic aciduria [RCV002740758]	likely benign	10	12097786	12097786	Human	1	name
156014382	CV2038584	single nucleotide variant	NM_018706.7(DHTKD1):c.1587C>T (p.Asp529=)	2-aminoadipic 2-oxoadipic aciduria [RCV002780319]	likely benign	10	12097912	12097912	Human	1	name
156343732	CV2051712	single nucleotide variant	NM_018706.7(DHTKD1):c.1725A>G (p.Glu575=)	2-aminoadipic 2-oxoadipic aciduria [RCV002811342]	likely benign	10	12100231	12100231	Human	1	name
155915348	CV2063116	single nucleotide variant	NM_018706.7(DHTKD1):c.116A>G (p.Glu39Gly)	2-aminoadipic 2-oxoadipic aciduria [RCV002838020]	uncertain significance	10	12069149	12069149	Human	1	name
156226159	CV2081110	single nucleotide variant	NM_018706.7(DHTKD1):c.2430C>G (p.Gly810=)	2-aminoadipic 2-oxoadipic aciduria [RCV002853395]	likely benign	10	12118776	12118776	Human	1	name
156101311	CV2088015	single nucleotide variant	NM_018706.7(DHTKD1):c.2154G>A (p.Gln718=)	2-aminoadipic 2-oxoadipic aciduria [RCV002848095]	uncertain significance	10	12108015	12108015	Human	1	name
155925585	CV2099548	single nucleotide variant	NM_018706.7(DHTKD1):c.1479T>C (p.Asn493=)	2-aminoadipic 2-oxoadipic aciduria [RCV002903554]	likely benign	10	12097804	12097804	Human	1	name
156090289	CV2132358	single nucleotide variant	NM_018706.7(DHTKD1):c.1305C>T (p.His435=)	2-aminoadipic 2-oxoadipic aciduria [RCV002979576]	likely benign	10	12094218	12094218	Human	1	name
156263800	CV2143557	deletion	NM_018706.7(DHTKD1):c.669del (p.His223fs)	2-aminoadipic 2-oxoadipic aciduria [RCV003009020]	pathogenic	10	12087681	12087681	Human	1	name
155908271	CV2144608	single nucleotide variant	NM_018706.7(DHTKD1):c.2613G>C (p.Pro871=)	2-aminoadipic 2-oxoadipic aciduria [RCV003012066]	likely benign	10	12120222	12120222	Human	1	name
156000860	CV2149527	single nucleotide variant	NM_018706.7(DHTKD1):c.160C>T (p.His54Tyr)	2-aminoadipic 2-oxoadipic aciduria [RCV002997011]	uncertain significance	10	12081477	12081477	Human	1	name
156241200	CV2150963	single nucleotide variant	NM_018706.7(DHTKD1):c.2469G>A (p.Leu823=)	2-aminoadipic 2-oxoadipic aciduria [RCV003026013]	likely benign	10	12118815	12118815	Human	1	name
156088867	CV2155508	single nucleotide variant	NM_018706.7(DHTKD1):c.2649G>A (p.Leu883=)	2-aminoadipic 2-oxoadipic aciduria [RCV003020607]	likely benign	10	12120258	12120258	Human	1	name
156301156	CV2170222	single nucleotide variant	NM_018706.7(DHTKD1):c.2238C>T (p.Phe746=)	2-aminoadipic 2-oxoadipic aciduria [RCV003045557]	likely benign	10	12112983	12112983	Human	1	name
156328891	CV2216287	single nucleotide variant	NM_018706.7(DHTKD1):c.2319G>C (p.Pro773=)	Inborn genetic diseases [RCV002717750]	uncertain significance	10	12113064	12113064	Human	1	name
243057442	CV2412049	single nucleotide variant	NM_018706.7(DHTKD1):c.232A>G (p.Thr78Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV003778861]\|not provided [RCV003146062]	uncertain significance	10	12081549	12081549	Human	1	name
401724467	CV2735723	single nucleotide variant	NM_018706.7(DHTKD1):c.278T>C (p.Val93Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV005102851]\|not provided [RCV003312166]	uncertain significance	10	12081595	12081595	Human	1	name
405024586	CV2866777	single nucleotide variant	NM_018706.7(DHTKD1):c.1617A>G (p.Val539=)	2-aminoadipic 2-oxoadipic aciduria [RCV003528865]	likely benign	10	12097942	12097942	Human	1	name
405028019	CV2880660	single nucleotide variant	NM_018706.7(DHTKD1):c.209C>A (p.Ala70Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV003529150]	uncertain significance	10	12081526	12081526	Human	1	name
405032139	CV2882894	single nucleotide variant	NM_018706.7(DHTKD1):c.1084T>C (p.Leu362=)	2-aminoadipic 2-oxoadipic aciduria [RCV003529346]	likely benign	10	12091609	12091609	Human	1	name
405031005	CV2883937	single nucleotide variant	NM_018706.7(DHTKD1):c.1926C>G (p.Ala642=)	2-aminoadipic 2-oxoadipic aciduria [RCV003529425]	likely benign	10	12106275	12106275	Human	1	name
405029354	CV2885826	single nucleotide variant	NM_018706.7(DHTKD1):c.252G>C (p.Glu84Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV003529288]\|Inborn genetic diseases [RCV004980873]	uncertain significance	10	12081569	12081569	Human	2	name
405029437	CV2886035	duplication	NM_018706.7(DHTKD1):c.967dup (p.Asp323fs)	2-aminoadipic 2-oxoadipic aciduria [RCV003529295]	pathogenic	10	12089230	12089231	Human	1	name
405028161	CV2891104	single nucleotide variant	NM_018706.7(DHTKD1):c.2064C>T (p.Leu688=)	2-aminoadipic 2-oxoadipic aciduria [RCV003529162]	likely benign	10	12107925	12107925	Human	1	name
405033039	CV2896402	single nucleotide variant	NM_018706.7(DHTKD1):c.1245C>T (p.Tyr415=)	2-aminoadipic 2-oxoadipic aciduria [RCV003529591]	likely benign	10	12094158	12094158	Human	1	name
405033115	CV2906610	single nucleotide variant	NM_018706.7(DHTKD1):c.1662A>G (p.Thr554=)	2-aminoadipic 2-oxoadipic aciduria [RCV003529597]	likely benign	10	12097987	12097987	Human	1	name
405015992	CV2910669	single nucleotide variant	NM_018706.7(DHTKD1):c.1722G>C (p.Ala574=)	2-aminoadipic 2-oxoadipic aciduria [RCV003527745]	likely benign	10	12100228	12100228	Human	1	name
405034452	CV2912009	deletion	NM_018706.7(DHTKD1):c.331del (p.Glu111fs)	2-aminoadipic 2-oxoadipic aciduria [RCV003529711]	pathogenic	10	12084559	12084559	Human	1	name
405016538	CV2921301	single nucleotide variant	NM_018706.7(DHTKD1):c.289C>A (p.Gln97Lys)	2-aminoadipic 2-oxoadipic aciduria [RCV003527752]	uncertain significance	10	12081606	12081606	Human	1	name
405016740	CV2930736	single nucleotide variant	NM_018706.7(DHTKD1):c.124G>A (p.Glu42Lys)	2-aminoadipic 2-oxoadipic aciduria [RCV003527808]	uncertain significance	10	12069157	12069157	Human	1	name
402484506	CV2940806	single nucleotide variant	NM_018706.7(DHTKD1):c.163G>A (p.Gly55Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV003643143]	uncertain significance	10	12081480	12081480	Human	1	name
402484691	CV2941130	single nucleotide variant	NM_018706.7(DHTKD1):c.1728T>G (p.Ala576=)	2-aminoadipic 2-oxoadipic aciduria [RCV003643161]	likely benign	10	12100234	12100234	Human	1	name
402484588	CV2947600	single nucleotide variant	NM_018706.7(DHTKD1):c.1161G>A (p.Gly387=)	2-aminoadipic 2-oxoadipic aciduria [RCV003643151]	likely benign	10	12094074	12094074	Human	1	name
402485121	CV2948731	single nucleotide variant	NM_018706.7(DHTKD1):c.2751C>G (p.Thr917=)	2-aminoadipic 2-oxoadipic aciduria [RCV003643203]	likely benign	10	12120879	12120879	Human	1	name
402485479	CV2953560	single nucleotide variant	NM_018706.7(DHTKD1):c.190T>C (p.Cys64Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003643260]	uncertain significance	10	12081507	12081507	Human	1	name
402485650	CV2954094	single nucleotide variant	NM_018706.7(DHTKD1):c.151C>G (p.Pro51Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV003643278]	uncertain significance	10	12069184	12069184	Human	1	name
402485552	CV2960569	single nucleotide variant	NM_018706.7(DHTKD1):c.2571A>G (p.Lys857=)	2-aminoadipic 2-oxoadipic aciduria [RCV003643268]	uncertain significance	10	12118917	12118917	Human	1	name
402489630	CV2972812	single nucleotide variant	NM_018706.7(DHTKD1):c.193G>C (p.Glu65Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV003643691]	uncertain significance	10	12081510	12081510	Human	1	name
402490637	CV2981222	single nucleotide variant	NM_018706.7(DHTKD1):c.154G>A (p.Val52Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV003643792]	uncertain significance	10	12069187	12069187	Human	1	name
402491368	CV2982247	single nucleotide variant	NM_018706.7(DHTKD1):c.239A>C (p.Gln80Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV003643867]	uncertain significance	10	12081556	12081556	Human	1	name
402492299	CV2994417	single nucleotide variant	NM_018706.7(DHTKD1):c.1428G>A (p.Glu476=)	2-aminoadipic 2-oxoadipic aciduria [RCV003643966]	likely benign	10	12097753	12097753	Human	1	name
402480231	CV3057166	single nucleotide variant	NM_018706.7(DHTKD1):c.2403G>A (p.Lys801=)	2-aminoadipic 2-oxoadipic aciduria [RCV003642637]	uncertain significance	10	12118749	12118749	Human	1	name
402480376	CV3060492	single nucleotide variant	NM_018706.7(DHTKD1):c.1722G>A (p.Ala574=)	2-aminoadipic 2-oxoadipic aciduria [RCV003642655]	likely benign	10	12100228	12100228	Human	1	name
402481932	CV3069882	single nucleotide variant	NM_018706.7(DHTKD1):c.1926C>T (p.Ala642=)	2-aminoadipic 2-oxoadipic aciduria [RCV003642778]	likely benign	10	12106275	12106275	Human	1	name
402486864	CV3074115	single nucleotide variant	NM_018706.7(DHTKD1):c.1233G>A (p.Leu411=)	2-aminoadipic 2-oxoadipic aciduria [RCV003643408]\|not provided [RCV004707834]	likely benign	10	12094146	12094146	Human	1	name
405130908	CV3115054	single nucleotide variant	NM_018706.7(DHTKD1):c.212C>T (p.Ala71Val)	2-aminoadipic 2-oxoadipic aciduria [RCV003815899]	uncertain significance	10	12081529	12081529	Human	1	name
404996434	CV3123785	single nucleotide variant	NM_018706.7(DHTKD1):c.287T>C (p.Leu96Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV003827692]	uncertain significance	10	12081604	12081604	Human	1	name
405197978	CV3132112	single nucleotide variant	NM_018706.7(DHTKD1):c.259C>T (p.Pro87Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV003821705]	uncertain significance	10	12081576	12081576	Human	1	name
402517405	CV3135918	single nucleotide variant	NM_018706.7(DHTKD1):c.2178G>C (p.Gly726=)	2-aminoadipic 2-oxoadipic aciduria [RCV003824544]	likely benign	10	12112923	12112923	Human	1	name
405151198	CV3162923	single nucleotide variant	NM_018706.7(DHTKD1):c.1705C>T (p.Leu569=)	2-aminoadipic 2-oxoadipic aciduria [RCV003856366]	likely benign	10	12100211	12100211	Human	1	name
405095840	CV3164260	single nucleotide variant	NM_018706.7(DHTKD1):c.2382T>C (p.Asp794=)	2-aminoadipic 2-oxoadipic aciduria [RCV003852575]	likely benign	10	12117735	12117735	Human	1	name
597908287	CV3738841	single nucleotide variant	NM_018706.7(DHTKD1):c.1594C>A (p.Arg532=)	2-aminoadipic 2-oxoadipic aciduria [RCV005073076]	likely benign	10	12097919	12097919	Human	1	name
597886986	CV3741878	single nucleotide variant	NM_018706.7(DHTKD1):c.2517C>T (p.Cys839=)	2-aminoadipic 2-oxoadipic aciduria [RCV005070598]	likely benign	10	12118863	12118863	Human	1	name
597838633	CV3758255	single nucleotide variant	NM_018706.7(DHTKD1):c.1194T>C (p.Asn398=)	2-aminoadipic 2-oxoadipic aciduria [RCV005086090]	likely benign	10	12094107	12094107	Human	1	name
597834369	CV3760743	single nucleotide variant	NM_018706.7(DHTKD1):c.233C>T (p.Thr78Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV005085294]	uncertain significance	10	12081550	12081550	Human	1	name
597917438	CV3789573	single nucleotide variant	NM_018706.7(DHTKD1):c.1857C>T (p.Pro619=)	2-aminoadipic 2-oxoadipic aciduria [RCV005129668]	likely benign	10	12101142	12101142	Human	1	name
597961416	CV3794922	single nucleotide variant	NM_018706.7(DHTKD1):c.2007C>T (p.Phe669=)	2-aminoadipic 2-oxoadipic aciduria [RCV005138827]	likely benign	10	12106356	12106356	Human	1	name
597938355	CV3808231	single nucleotide variant	NM_018706.7(DHTKD1):c.1437A>G (p.Glu479=)	2-aminoadipic 2-oxoadipic aciduria [RCV005158419]	likely benign	10	12097762	12097762	Human	1	name
597959649	CV3811429	single nucleotide variant	NM_018706.7(DHTKD1):c.1389A>G (p.Ala463=)	2-aminoadipic 2-oxoadipic aciduria [RCV005163275]	likely benign	10	12097714	12097714	Human	1	name
597943345	CV3812291	single nucleotide variant	NM_018706.7(DHTKD1):c.1434T>C (p.Ser478=)	2-aminoadipic 2-oxoadipic aciduria [RCV005159501]	likely benign	10	12097759	12097759	Human	1	name
597974745	CV3831818	single nucleotide variant	NM_018706.7(DHTKD1):c.2442C>T (p.Tyr814=)	2-aminoadipic 2-oxoadipic aciduria [RCV005168757]	likely benign	10	12118788	12118788	Human	1	name
597963395	CV3841439	single nucleotide variant	NM_018706.7(DHTKD1):c.2415C>A (p.Leu805=)	2-aminoadipic 2-oxoadipic aciduria [RCV005193543]	likely benign	10	12118761	12118761	Human	1	name
597914021	CV3851078	single nucleotide variant	NM_018706.7(DHTKD1):c.1920A>G (p.Glu640=)	2-aminoadipic 2-oxoadipic aciduria [RCV005204046]	likely benign	10	12106269	12106269	Human	1	name
597872986	CV3859183	single nucleotide variant	NM_018706.7(DHTKD1):c.1596G>T (p.Arg532=)	2-aminoadipic 2-oxoadipic aciduria [RCV005197772]	likely benign	10	12097921	12097921	Human	1	name
597918927	CV3861622	single nucleotide variant	NM_018706.7(DHTKD1):c.115G>C (p.Glu39Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV005204778]	uncertain significance	10	12069148	12069148	Human	1	name
598162210	CV3953089	single nucleotide variant	NM_018706.7(DHTKD1):c.281A>C (p.Gln94Pro)	Inborn genetic diseases [RCV005329124]	uncertain significance	10	12081598	12081598	Human	1	name
598162223	CV3953092	single nucleotide variant	NM_018706.7(DHTKD1):c.170C>T (p.Ala57Val)	Inborn genetic diseases [RCV005329127]	uncertain significance	10	12081487	12081487	Human	1	name
12894763	CV407824	duplication	NM_018706.7(DHTKD1):c.467dup (p.Thr157fs)	2-aminoadipic 2-oxoadipic aciduria [RCV000714728]\|not provided [RCV000484048]	pathogenic\|likely pathogenic	10	12084695	12084696	Human	1	name
12913558	CV421780	single nucleotide variant	NM_018706.7(DHTKD1):c.272C>T (p.Ala91Val)	2-aminoadipic 2-oxoadipic aciduria [RCV001865548]\|not provided [RCV000493967]	uncertain significance	10	12081589	12081589	Human	1	name
13814886	CV563592	deletion	NM_018706.7(DHTKD1):c.748del (p.Glu250fs)	2-aminoadipic 2-oxoadipic aciduria [RCV000691193]	pathogenic	10	12089016	12089016	Human	1	name
13827547	CV578482	single nucleotide variant	NM_018706.7(DHTKD1):c.104C>T (p.Pro35Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV000714644]\|Inborn genetic diseases [RCV002534525]\|not provided [RCV003884714]	uncertain significance	10	12069137	12069137	Human	2	name
14705667	CV638758	single nucleotide variant	NM_018706.7(DHTKD1):c.2454A>G (p.Lys818=)	2-aminoadipic 2-oxoadipic aciduria [RCV000808187]	likely benign\|uncertain significance	10	12118800	12118800	Human	1	name
15191197	CV701217	single nucleotide variant	NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly)	2-aminoadipic 2-oxoadipic aciduria [RCV000988327]\|not provided [RCV000954705]\|not specified [RCV001796329]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	12081526	12081526	Human	1	name
15172128	CV701221	single nucleotide variant	NM_018706.7(DHTKD1):c.2742C>T (p.Leu914=)	2-aminoadipic 2-oxoadipic aciduria [RCV001083620]\|DHTKD1-related disorder [RCV003960607]\|not provided [RCV000949960]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	12120870	12120870	Human	1	name , trait , alternate_id
15134466	CV712200	single nucleotide variant	NM_018706.7(DHTKD1):c.2340A>G (p.Gln780=)	2-aminoadipic 2-oxoadipic aciduria [RCV000965131]\|DHTKD1-related disorder [RCV003960763]\|not provided [RCV004707510]	likely benign	10	12117693	12117693	Human	1	name , trait , alternate_id
15116170	CV712201	single nucleotide variant	NM_018706.7(DHTKD1):c.2523C>T (p.Phe841=)	2-aminoadipic 2-oxoadipic aciduria [RCV000961987]\|not provided [RCV001811550]	benign	10	12118869	12118869	Human	1	name
15187008	CV723807	single nucleotide variant	NM_018706.7(DHTKD1):c.1041G>A (p.Thr347=)	2-aminoadipic 2-oxoadipic aciduria [RCV000887136]\|not provided [RCV001811534]	benign\|likely benign	10	12091566	12091566	Human	1	name
15113945	CV723809	single nucleotide variant	NM_018706.7(DHTKD1):c.1257C>T (p.Phe419=)	2-aminoadipic 2-oxoadipic aciduria [RCV002065610]	likely benign	10	12094170	12094170	Human	1	name
15193783	CV723810	single nucleotide variant	NM_018706.7(DHTKD1):c.1284G>A (p.Leu428=)	2-aminoadipic 2-oxoadipic aciduria [RCV000889041]\|DHTKD1-related disorder [RCV003948404]\|not provided [RCV005231941]	benign\|likely benign	10	12094197	12094197	Human	1	name , trait , alternate_id
15192983	CV723811	single nucleotide variant	NM_018706.7(DHTKD1):c.1419G>A (p.Thr473=)	2-aminoadipic 2-oxoadipic aciduria [RCV002065546]	likely benign	10	12097744	12097744	Human	1	name
15169804	CV723812	single nucleotide variant	NM_018706.7(DHTKD1):c.1551G>A (p.Ala517=)	2-aminoadipic 2-oxoadipic aciduria [RCV002065486]\|not provided [RCV003413708]	likely benign	10	12097876	12097876	Human	1	name
15106165	CV723813	single nucleotide variant	NM_018706.7(DHTKD1):c.2103C>T (p.Tyr701=)	2-aminoadipic 2-oxoadipic aciduria [RCV002539409]	likely benign	10	12107964	12107964	Human	1	name
15131115	CV737377	single nucleotide variant	NM_018706.7(DHTKD1):c.1407C>A (p.Gly469=)	2-aminoadipic 2-oxoadipic aciduria [RCV002065643]	benign	10	12097732	12097732	Human	1	name
15140666	CV737378	single nucleotide variant	NM_018706.7(DHTKD1):c.1956T>C (p.Ile652=)	2-aminoadipic 2-oxoadipic aciduria [RCV002065675]\|DHTKD1-related disorder [RCV003910718]	likely benign	10	12106305	12106305	Human	1	name , trait , alternate_id
15186620	CV737379	single nucleotide variant	NM_018706.7(DHTKD1):c.2184C>T (p.Asp728=)	2-aminoadipic 2-oxoadipic aciduria [RCV002065782]\|DHTKD1-related disorder [RCV003968360]\|not provided [RCV000908857]	benign\|likely benign	10	12112929	12112929	Human	1	name , trait , alternate_id
15193637	CV751999	single nucleotide variant	NM_018706.7(DHTKD1):c.1185C>T (p.Ile395=)	2-aminoadipic 2-oxoadipic aciduria [RCV002540818]	likely benign	10	12094098	12094098	Human	1	name
15203383	CV752001	single nucleotide variant	NM_018706.7(DHTKD1):c.2169G>A (p.Ala723=)	2-aminoadipic 2-oxoadipic aciduria [RCV002065853]\|not specified [RCV005418409]	likely benign	10	12112914	12112914	Human	1	name
15127950	CV752002	single nucleotide variant	NM_018706.7(DHTKD1):c.2226T>C (p.Pro742=)	2-aminoadipic 2-oxoadipic aciduria [RCV005092743]	likely benign	10	12112971	12112971	Human	1	name
15180499	CV767653	single nucleotide variant	NM_018706.7(DHTKD1):c.1581C>T (p.Pro527=)	2-aminoadipic 2-oxoadipic aciduria [RCV000929902]	likely benign	10	12097906	12097906	Human	1	name
15181773	CV767654	single nucleotide variant	NM_018706.7(DHTKD1):c.2325C>T (p.Ala775=)	2-aminoadipic 2-oxoadipic aciduria [RCV001858591]\|not provided [RCV004707485]	likely benign	10	12117678	12117678	Human	1	name
15099294	CV783550	single nucleotide variant	NM_018706.7(DHTKD1):c.2613G>A (p.Pro871=)	2-aminoadipic 2-oxoadipic aciduria [RCV001869322]	likely benign	10	12120222	12120222	Human	1	name
21072869	CV796371	single nucleotide variant	NM_018706.7(DHTKD1):c.1978C>T (p.Leu660=)	2-aminoadipic 2-oxoadipic aciduria [RCV002550664]\|not provided [RCV000994350]	likely benign\|uncertain significance	10	12106327	12106327	Human	1	name
126753254	CV993740	single nucleotide variant	NM_018706.7(DHTKD1):c.2319G>A (p.Pro773=)	2-aminoadipic 2-oxoadipic aciduria [RCV001307365]\|Inborn genetic diseases [RCV005328688]\|not provided [RCV004762064]	uncertain significance	10	12113064	12113064	Human	2	name
126740152	CV1020690	single nucleotide variant	NM_018706.7(DHTKD1):c.446G>A (p.Arg149Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV001335926]\|Inborn genetic diseases [RCV002547346]	uncertain significance	10	12084675	12084675	Human	2	name
126740158	CV1020691	single nucleotide variant	NM_018706.7(DHTKD1):c.920C>T (p.Ser307Phe)	2-aminoadipic 2-oxoadipic aciduria [RCV001871879]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV001335927]	uncertain significance	10	12089188	12089188	Human	2	name
126909741	CV1046455	single nucleotide variant	NM_018706.7(DHTKD1):c.728G>T (p.Arg243Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV001364459]\|Inborn genetic diseases [RCV004611788]	uncertain significance	10	12088996	12088996	Human	2	name
126909737	CV1046456	single nucleotide variant	NM_018706.7(DHTKD1):c.847A>G (p.Met283Val)	2-aminoadipic 2-oxoadipic aciduria [RCV001362010]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV003333763]\|not provided [RCV004692633]	uncertain significance	10	12089115	12089115	Human	2	name
127288118	CV1152430	single nucleotide variant	NM_018706.7(DHTKD1):c.420G>C (p.Gln140His)	2-aminoadipic 2-oxoadipic aciduria [RCV001882555]\|not provided [RCV001508293]	uncertain significance	10	12084649	12084649	Human	1	name
127311329	CV1156364	single nucleotide variant	NM_018706.7(DHTKD1):c.814T>G (p.Tyr272Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV001518571]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV001658217]\|not provided [RCV004718862]\|not specified [RCV001529139]	benign	10	12089082	12089082	Human	2	name
150502337	CV1241220	deletion	NM_018706.7(DHTKD1):c.2402+109_2402+110del	not provided [RCV001657116]	benign	10	12117861	12117862	Human		name
150540379	CV1314504	single nucleotide variant	NM_018706.7(DHTKD1):c.736C>T (p.Arg246Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV003642803]	pathogenic\|likely pathogenic	10	12089004	12089004	Human	1	name
151661805	CV1330036	single nucleotide variant	NM_018706.7(DHTKD1):c.677G>A (p.Arg226Lys)	Charcot-Marie-Tooth disease axonal type 2Q [RCV001823447]	uncertain significance	10	12087689	12087689	Human	1	name
151662710	CV1330637	deletion	NM_018706.7(DHTKD1):c.1409del (p.Gly470fs)	2-aminoadipic 2-oxoadipic aciduria [RCV001869830]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV001824200]	pathogenic\|likely pathogenic	10	12097733	12097733	Human	2	name
151732688	CV1336408	single nucleotide variant	NM_018706.7(DHTKD1):c.886G>A (p.Val296Met)	2-aminoadipic 2-oxoadipic aciduria [RCV002034772]\|Nephrotic syndrome [RCV001849636]	uncertain significance	10	12089154	12089154	Human	3	name
151891627	CV1347138	single nucleotide variant	NM_018706.7(DHTKD1):c.508A>C (p.Met170Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV002039185]	uncertain significance	10	12084737	12084737	Human	1	name
151802978	CV1351720	single nucleotide variant	NM_018706.7(DHTKD1):c.800C>A (p.Ser267Tyr)	2-aminoadipic 2-oxoadipic aciduria [RCV001974079]	uncertain significance	10	12089068	12089068	Human	1	name
151802391	CV1364543	single nucleotide variant	NM_018706.7(DHTKD1):c.445C>T (p.Arg149Trp)	2-aminoadipic 2-oxoadipic aciduria [RCV001991074]	uncertain significance	10	12084674	12084674	Human	1	name
151844356	CV1375990	single nucleotide variant	NM_018706.7(DHTKD1):c.614T>G (p.Leu205Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV001995139]\|Inborn genetic diseases [RCV004976034]	uncertain significance	10	12087626	12087626	Human	2	name
151774115	CV1402307	single nucleotide variant	NM_018706.7(DHTKD1):c.432C>A (p.Asp144Glu)	2-aminoadipic 2-oxoadipic aciduria [RCV001929808]\|Inborn genetic diseases [RCV005330945]	uncertain significance	10	12084661	12084661	Human	2	name
151743885	CV1406801	single nucleotide variant	NM_018706.7(DHTKD1):c.931G>A (p.Gly311Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV002006094]\|Inborn genetic diseases [RCV003170407]	uncertain significance	10	12089199	12089199	Human	2	name
151833222	CV1416484	single nucleotide variant	NM_018706.7(DHTKD1):c.824C>T (p.Ala275Val)	2-aminoadipic 2-oxoadipic aciduria [RCV002014512]\|Inborn genetic diseases [RCV003264332]	uncertain significance	10	12089092	12089092	Human	2	name
151715670	CV1434870	single nucleotide variant	NM_018706.7(DHTKD1):c.976A>G (p.Ile326Val)	2-aminoadipic 2-oxoadipic aciduria [RCV001890288]\|Inborn genetic diseases [RCV002552840]	uncertain significance	10	12089244	12089244	Human	2	name
151855885	CV1473922	single nucleotide variant	NM_018706.7(DHTKD1):c.890C>T (p.Ala297Val)	2-aminoadipic 2-oxoadipic aciduria [RCV001904684]\|Inborn genetic diseases [RCV004039716]	uncertain significance	10	12089158	12089158	Human	2	name
151801064	CV1475064	single nucleotide variant	NM_018706.7(DHTKD1):c.577G>A (p.Glu193Lys)	2-aminoadipic 2-oxoadipic aciduria [RCV001952932]\|Inborn genetic diseases [RCV004975950]	uncertain significance	10	12087589	12087589	Human	2	name
151864397	CV1477261	single nucleotide variant	NM_018706.7(DHTKD1):c.922C>T (p.Arg308Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV001938980]\|Inborn genetic diseases [RCV004975910]	uncertain significance	10	12089190	12089190	Human	2	name
151740045	CV1490498	single nucleotide variant	NM_018706.7(DHTKD1):c.962C>T (p.Pro321Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV001985151]	uncertain significance	10	12089230	12089230	Human	1	name
151884532	CV1497765	single nucleotide variant	NM_018706.7(DHTKD1):c.403T>G (p.Ser135Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV001962354]\|Inborn genetic diseases [RCV003247195]	uncertain significance	10	12084632	12084632	Human	2	name
151743498	CV1507587	single nucleotide variant	NM_018706.7(DHTKD1):c.608A>G (p.His203Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV001968381]	uncertain significance	10	12087620	12087620	Human	1	name
151815411	CV1507651	single nucleotide variant	NM_018706.7(DHTKD1):c.863C>T (p.Ser288Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV001954233]	uncertain significance	10	12089131	12089131	Human	1	name
151829192	CV1514144	single nucleotide variant	NM_018706.7(DHTKD1):c.965G>C (p.Gly322Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV001955510]\|Inborn genetic diseases [RCV002562119]	uncertain significance	10	12089233	12089233	Human	2	name
152045803	CV1670338	deletion	NM_018706.7(DHTKD1):c.1859del (p.Leu620fs)	2-aminoadipic 2-oxoadipic aciduria [RCV002225190]	likely pathogenic	10	12101144	12101144	Human	1	name
153303772	CV1686455	single nucleotide variant	NM_018706.7(DHTKD1):c.522G>C (p.Gln174His)	not provided [RCV002261889]	uncertain significance	10	12084751	12084751	Human		name
155673396	CV1774189	single nucleotide variant	NM_018706.7(DHTKD1):c.847A>T (p.Met283Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV002297648]	uncertain significance	10	12089115	12089115	Human	1	name
156274319	CV1880504	single nucleotide variant	NM_018706.7(DHTKD1):c.818T>C (p.Phe273Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV003060833]\|Inborn genetic diseases [RCV003060834]	uncertain significance	10	12089086	12089086	Human	2	name
156013454	CV1880691	single nucleotide variant	NM_018706.7(DHTKD1):c.728G>A (p.Arg243His)	2-aminoadipic 2-oxoadipic aciduria [RCV003077225]	uncertain significance	10	12088996	12088996	Human	1	name
156082066	CV1883700	single nucleotide variant	NM_018706.7(DHTKD1):c.934G>A (p.Asp312Asn)	2-aminoadipic 2-oxoadipic aciduria [RCV003079902]	uncertain significance	10	12089202	12089202	Human	1	name
156405164	CV1883751	single nucleotide variant	NM_018706.7(DHTKD1):c.892G>A (p.Val298Met)	2-aminoadipic 2-oxoadipic aciduria [RCV003069935]	uncertain significance	10	12089160	12089160	Human	1	name
156412682	CV1886843	single nucleotide variant	NM_018706.7(DHTKD1):c.817T>C (p.Phe273Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV003072994]	uncertain significance	10	12089085	12089085	Human	1	name
155983361	CV1887158	single nucleotide variant	NM_018706.7(DHTKD1):c.569A>T (p.Tyr190Phe)	2-aminoadipic 2-oxoadipic aciduria [RCV003075768]	uncertain significance	10	12087581	12087581	Human	1	name
156124054	CV1892764	single nucleotide variant	NM_018706.7(DHTKD1):c.981C>G (p.Cys327Trp)	2-aminoadipic 2-oxoadipic aciduria [RCV003081563]	uncertain significance	10	12089249	12089249	Human	1	name
156361726	CV1899041	single nucleotide variant	NM_018706.7(DHTKD1):c.967G>A (p.Asp323Asn)	2-aminoadipic 2-oxoadipic aciduria [RCV003091755]	uncertain significance	10	12089235	12089235	Human	1	name
156272945	CV1899553	single nucleotide variant	NM_018706.7(DHTKD1):c.721A>G (p.Met241Val)	2-aminoadipic 2-oxoadipic aciduria [RCV003086850]	uncertain significance	10	12088989	12088989	Human	1	name
156403273	CV1901575	single nucleotide variant	NM_018706.7(DHTKD1):c.554C>T (p.Ser185Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV002585178]	uncertain significance	10	12087566	12087566	Human	1	name
156159117	CV1906767	single nucleotide variant	NM_018706.7(DHTKD1):c.395T>C (p.Ile132Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV003082821]	uncertain significance	10	12084624	12084624	Human	1	name
156405552	CV1913149	single nucleotide variant	NM_018706.7(DHTKD1):c.737G>C (p.Arg246Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV002606356]	uncertain significance	10	12089005	12089005	Human	1	name
156361255	CV1921425	single nucleotide variant	NM_018706.7(DHTKD1):c.823G>T (p.Ala275Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV002632692]	uncertain significance	10	12089091	12089091	Human	1	name
156156257	CV1931529	single nucleotide variant	NM_018706.7(DHTKD1):c.944C>T (p.Pro315Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV002664075]	uncertain significance	10	12089212	12089212	Human	1	name
156373658	CV1932926	single nucleotide variant	NM_018706.7(DHTKD1):c.831T>G (p.His277Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV002633633]\|Inborn genetic diseases [RCV002633634]	uncertain significance	10	12089099	12089099	Human	2	name
156420049	CV1979407	single nucleotide variant	NM_018706.7(DHTKD1):c.710C>T (p.Pro237Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV002613300]	uncertain significance	10	12087722	12087722	Human	1	name
156396492	CV1980539	single nucleotide variant	NM_018706.7(DHTKD1):c.737G>A (p.Arg246Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV002605169]\|Inborn genetic diseases [RCV004065866]	likely benign\|uncertain significance	10	12089005	12089005	Human	2	name
156083537	CV1992893	single nucleotide variant	NM_018706.7(DHTKD1):c.877G>A (p.Val293Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV002638977]	uncertain significance	10	12089145	12089145	Human	1	name
156242318	CV1996414	single nucleotide variant	NM_018706.7(DHTKD1):c.851T>C (p.Leu284Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV002667968]	uncertain significance	10	12089119	12089119	Human	1	name
156243330	CV1996457	single nucleotide variant	NM_018706.7(DHTKD1):c.523G>C (p.Glu175Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV002668000]	uncertain significance	10	12087535	12087535	Human	1	name
155951150	CV2013999	single nucleotide variant	NM_018706.7(DHTKD1):c.649G>A (p.Val217Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV002686029]	uncertain significance	10	12087661	12087661	Human	1	name
156118758	CV2035748	single nucleotide variant	NM_018706.7(DHTKD1):c.487C>T (p.Arg163Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV002785704]	pathogenic	10	12084716	12084716	Human	1	name
156124023	CV2036154	single nucleotide variant	NM_018706.7(DHTKD1):c.987G>C (p.Gln329His)	2-aminoadipic 2-oxoadipic aciduria [RCV002800343]	uncertain significance	10	12089255	12089255	Human	1	name
156017960	CV2045743	single nucleotide variant	NM_018706.7(DHTKD1):c.992A>G (p.His331Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV002780504]	uncertain significance	10	12091517	12091517	Human	1	name
156076762	CV2053465	single nucleotide variant	NM_018706.7(DHTKD1):c.559G>C (p.Val187Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV002823725]	uncertain significance	10	12087571	12087571	Human	1	name
155928517	CV2067133	single nucleotide variant	NM_018706.7(DHTKD1):c.773C>G (p.Thr258Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV002838645]	uncertain significance	10	12089041	12089041	Human	1	name
156308162	CV2085669	deletion	NM_018706.7(DHTKD1):c.1544del (p.Pro515fs)	2-aminoadipic 2-oxoadipic aciduria [RCV002898561]	pathogenic	10	12097868	12097868	Human	1	name
155930363	CV2096002	deletion	NM_018706.7(DHTKD1):c.2347del (p.Ala783fs)	2-aminoadipic 2-oxoadipic aciduria [RCV002903791]	pathogenic	10	12117699	12117699	Human	1	name
156004493	CV2106965	single nucleotide variant	NM_018706.7(DHTKD1):c.973G>A (p.Val325Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV002947949]\|Inborn genetic diseases [RCV004067241]	uncertain significance	10	12089241	12089241	Human	2	name
156238703	CV2109018	single nucleotide variant	NM_018706.7(DHTKD1):c.698T>A (p.Leu233His)	2-aminoadipic 2-oxoadipic aciduria [RCV002933120]	uncertain significance	10	12087710	12087710	Human	1	name
156372391	CV2127630	single nucleotide variant	NM_018706.7(DHTKD1):c.613C>G (p.Leu205Val)	2-aminoadipic 2-oxoadipic aciduria [RCV002942438]	uncertain significance	10	12087625	12087625	Human	1	name
156070546	CV2168838	single nucleotide variant	NM_018706.7(DHTKD1):c.326G>A (p.Gly109Glu)	2-aminoadipic 2-oxoadipic aciduria [RCV003037553]	uncertain significance	10	12084555	12084555	Human	1	name
156091466	CV2172888	duplication	NM_018706.7(DHTKD1):c.2604dup (p.Met869fs)	2-aminoadipic 2-oxoadipic aciduria [RCV003054376]	uncertain significance	10	12120212	12120213	Human	1	name
156198185	CV2293654	single nucleotide variant	NM_018706.7(DHTKD1):c.500C>T (p.Ser167Leu)	Inborn genetic diseases [RCV002874656]	uncertain significance	10	12084729	12084729	Human	1	name
156305779	CV2314740	single nucleotide variant	NM_018706.7(DHTKD1):c.940T>C (p.Ser314Pro)	Inborn genetic diseases [RCV002898364]	uncertain significance	10	12089208	12089208	Human	1	name
329951971	CV2668717	single nucleotide variant	NM_018706.7(DHTKD1):c.915G>C (p.Gln305His)	2-aminoadipic 2-oxoadipic aciduria [RCV003528449]\|not specified [RCV003230798]	uncertain significance	10	12089183	12089183	Human	1	name
401879291	CV2773000	single nucleotide variant	NM_018706.7(DHTKD1):c.337G>C (p.Ala113Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV005061334]\|Inborn genetic diseases [RCV003364254]	uncertain significance	10	12084566	12084566	Human	2	name
401892609	CV2782054	single nucleotide variant	NM_018706.7(DHTKD1):c.970A>G (p.Arg324Gly)	2-aminoadipic 2-oxoadipic aciduria [RCV003778062]\|Inborn genetic diseases [RCV003370078]	uncertain significance	10	12089238	12089238	Human	2	name
401898546	CV2784559	single nucleotide variant	NM_018706.7(DHTKD1):c.859C>A (p.Pro287Thr)	Inborn genetic diseases [RCV003376725]	uncertain significance	10	12089127	12089127	Human	1	name
401895032	CV2792723	single nucleotide variant	NM_018706.7(DHTKD1):c.523G>A (p.Glu175Lys)	Inborn genetic diseases [RCV003372121]	uncertain significance	10	12087535	12087535	Human	1	name
401918725	CV2794656	single nucleotide variant	NM_018706.7(DHTKD1):c.562A>G (p.Lys188Glu)	not specified [RCV003388330]	uncertain significance	10	12087574	12087574	Human		name
405025106	CV2866929	deletion	NM_018706.7(DHTKD1):c.1967del (p.Lys656fs)	2-aminoadipic 2-oxoadipic aciduria [RCV003528912]	pathogenic	10	12106314	12106314	Human	1	name
405026843	CV2869127	single nucleotide variant	NM_018706.7(DHTKD1):c.857A>G (p.Asn286Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV003529059]	uncertain significance	10	12089125	12089125	Human	1	name
405027979	CV2884288	single nucleotide variant	NM_018706.7(DHTKD1):c.451G>A (p.Glu151Lys)	2-aminoadipic 2-oxoadipic aciduria [RCV003529147]\|Inborn genetic diseases [RCV004369124]	uncertain significance	10	12084680	12084680	Human	2	name
405030870	CV2890490	single nucleotide variant	NM_018706.7(DHTKD1):c.423T>A (p.Asp141Glu)	2-aminoadipic 2-oxoadipic aciduria [RCV003529414]	uncertain significance	10	12084652	12084652	Human	1	name
405033440	CV2896822	single nucleotide variant	NM_018706.7(DHTKD1):c.624G>A (p.Met208Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV003529625]	uncertain significance	10	12087636	12087636	Human	1	name
405033885	CV2904133	single nucleotide variant	NM_018706.7(DHTKD1):c.465G>T (p.Lys155Asn)	2-aminoadipic 2-oxoadipic aciduria [RCV003529663]	uncertain significance	10	12084694	12084694	Human	1	name
405016083	CV2917800	single nucleotide variant	NM_018706.7(DHTKD1):c.962C>A (p.Pro321Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV003527757]	uncertain significance	10	12089230	12089230	Human	1	name
402488960	CV2971827	single nucleotide variant	NM_018706.7(DHTKD1):c.941C>T (p.Ser314Phe)	2-aminoadipic 2-oxoadipic aciduria [RCV003643619]	uncertain significance	10	12089209	12089209	Human	1	name
402489914	CV2976334	single nucleotide variant	NM_018706.7(DHTKD1):c.691A>G (p.Thr231Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV003643722]	uncertain significance	10	12087703	12087703	Human	1	name
402491162	CV2982029	single nucleotide variant	NM_018706.7(DHTKD1):c.497T>C (p.Leu166Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV003643846]	uncertain significance	10	12084726	12084726	Human	1	name
402492623	CV2998478	single nucleotide variant	NM_018706.7(DHTKD1):c.401C>T (p.Thr134Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV003644002]	uncertain significance	10	12084630	12084630	Human	1	name
405202536	CV3033027	single nucleotide variant	NM_018706.7(DHTKD1):c.509T>G (p.Met170Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003642385]	uncertain significance	10	12084738	12084738	Human	1	name
402479709	CV3051918	single nucleotide variant	NM_018706.7(DHTKD1):c.905G>A (p.Arg302His)	2-aminoadipic 2-oxoadipic aciduria [RCV003642571]	uncertain significance	10	12089173	12089173	Human	1	name
402480982	CV3058531	single nucleotide variant	NM_018706.7(DHTKD1):c.377A>G (p.Tyr126Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV003642728]	uncertain significance	10	12084606	12084606	Human	1	name
402481509	CV3063008	single nucleotide variant	NM_018706.7(DHTKD1):c.443A>G (p.Lys148Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003642795]	uncertain significance	10	12084672	12084672	Human	1	name
402481990	CV3070395	single nucleotide variant	NM_018706.7(DHTKD1):c.907G>A (p.Gly303Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV003642821]	uncertain significance	10	12089175	12089175	Human	1	name
402487885	CV3071806	single nucleotide variant	NM_018706.7(DHTKD1):c.637G>A (p.Gly213Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003643418]	uncertain significance	10	12087649	12087649	Human	1	name
405090424	CV3118482	single nucleotide variant	NM_018706.7(DHTKD1):c.908G>T (p.Gly303Val)	2-aminoadipic 2-oxoadipic aciduria [RCV003811125]	uncertain significance	10	12089176	12089176	Human	1	name
405143180	CV3125974	single nucleotide variant	NM_018706.7(DHTKD1):c.649G>T (p.Val217Phe)	2-aminoadipic 2-oxoadipic aciduria [RCV003816890]	uncertain significance	10	12087661	12087661	Human	1	name
405142390	CV3125982	single nucleotide variant	NM_018706.7(DHTKD1):c.635G>A (p.Ser212Asn)	2-aminoadipic 2-oxoadipic aciduria [RCV003816898]	uncertain significance	10	12087647	12087647	Human	1	name
405197484	CV3132053	single nucleotide variant	NM_018706.7(DHTKD1):c.781G>A (p.Val261Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV003821646]	uncertain significance	10	12089049	12089049	Human	1	name
405114362	CV3133869	single nucleotide variant	NM_018706.7(DHTKD1):c.329A>G (p.Lys110Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003836664]	uncertain significance	10	12084558	12084558	Human	1	name
405036217	CV3140539	single nucleotide variant	NM_018706.7(DHTKD1):c.953C>T (p.Ser318Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV003831021]	uncertain significance	10	12089221	12089221	Human	1	name
405176865	CV3146884	single nucleotide variant	NM_018706.7(DHTKD1):c.703C>T (p.Gln235Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV003841979]	pathogenic	10	12087715	12087715	Human	1	name
405222532	CV3158187	single nucleotide variant	NM_018706.7(DHTKD1):c.841G>A (p.Val281Met)	2-aminoadipic 2-oxoadipic aciduria [RCV003863683]\|Inborn genetic diseases [RCV004614558]	uncertain significance	10	12089109	12089109	Human	2	name
402468077	CV3174176	single nucleotide variant	NM_018706.7(DHTKD1):c.761A>G (p.Asn254Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV003873459]	uncertain significance	10	12089029	12089029	Human	1	name
405254961	CV3175634	single nucleotide variant	NM_018706.7(DHTKD1):c.458T>G (p.Leu153Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003871901]	uncertain significance	10	12084687	12084687	Human	1	name
405691957	CV3247101	single nucleotide variant	NM_018706.7(DHTKD1):c.836T>A (p.Leu279His)	Inborn genetic diseases [RCV004373480]	uncertain significance	10	12089104	12089104	Human	1	name
405691962	CV3247102	single nucleotide variant	NM_018706.7(DHTKD1):c.998A>G (p.Asp333Gly)	Inborn genetic diseases [RCV004373481]	uncertain significance	10	12091523	12091523	Human	1	name
407467204	CV3434093	single nucleotide variant	NM_018706.7(DHTKD1):c.304A>G (p.Thr102Ala)	Inborn genetic diseases [RCV004614154]	uncertain significance	10	12081621	12081621	Human	1	name
407467221	CV3434098	single nucleotide variant	NM_018706.7(DHTKD1):c.628G>A (p.Ala210Thr)	Inborn genetic diseases [RCV004614159]	uncertain significance	10	12087640	12087640	Human	1	name
407467224	CV3434099	single nucleotide variant	NM_018706.7(DHTKD1):c.368A>G (p.Asn123Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV005102157]\|Inborn genetic diseases [RCV004614160]	uncertain significance	10	12084597	12084597	Human	2	name
407467230	CV3434101	single nucleotide variant	NM_018706.7(DHTKD1):c.770C>G (p.Ala257Gly)	Inborn genetic diseases [RCV004614162]	uncertain significance	10	12089038	12089038	Human	1	name
408389995	CV3519087	single nucleotide variant	NM_018706.7(DHTKD1):c.790C>A (p.His264Asn)	not provided [RCV004762396]	uncertain significance	10	12089058	12089058	Human		name
597632229	CV3552804	single nucleotide variant	NM_018706.7(DHTKD1):c.832C>G (p.Pro278Ala)	not provided [RCV004823632]	uncertain significance	10	12089100	12089100	Human		name
597962665	CV3753757	single nucleotide variant	NM_018706.7(DHTKD1):c.719T>C (p.Leu240Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV005082061]	uncertain significance	10	12088987	12088987	Human	1	name
597867608	CV3764122	single nucleotide variant	NM_018706.7(DHTKD1):c.643A>G (p.Thr215Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV005107119]	uncertain significance	10	12087655	12087655	Human	1	name
597858752	CV3769667	single nucleotide variant	NM_018706.7(DHTKD1):c.904C>T (p.Arg302Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV005105710]	uncertain significance	10	12089172	12089172	Human	1	name
597930942	CV3780293	single nucleotide variant	NM_018706.7(DHTKD1):c.385C>A (p.Gln129Lys)	2-aminoadipic 2-oxoadipic aciduria [RCV005116613]	uncertain significance	10	12084614	12084614	Human	1	name
597944363	CV3782812	single nucleotide variant	NM_018706.7(DHTKD1):c.950A>C (p.Asn317Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV005134352]	uncertain significance	10	12089218	12089218	Human	1	name
597931819	CV3789506	deletion	NM_018706.7(DHTKD1):c.2454del (p.Lys818fs)	2-aminoadipic 2-oxoadipic aciduria [RCV005131787]	pathogenic	10	12118798	12118798	Human	1	name
597855388	CV3821748	single nucleotide variant	NM_018706.7(DHTKD1):c.525G>T (p.Glu175Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV005174226]	uncertain significance	10	12087537	12087537	Human	1	name
597838434	CV3824808	single nucleotide variant	NM_018706.7(DHTKD1):c.464A>G (p.Lys155Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV005171672]	uncertain significance	10	12084693	12084693	Human	1	name
597976127	CV3829132	single nucleotide variant	NM_018706.7(DHTKD1):c.926A>C (p.Gln309Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV005169581]	uncertain significance	10	12089194	12089194	Human	1	name
597972174	CV3829496	single nucleotide variant	NM_018706.7(DHTKD1):c.548A>C (p.Lys183Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV005167283]	uncertain significance	10	12087560	12087560	Human	1	name
597953158	CV3843918	single nucleotide variant	NM_018706.7(DHTKD1):c.353T>C (p.Val118Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV005190780]	uncertain significance	10	12084582	12084582	Human	1	name
598162220	CV3953091	single nucleotide variant	NM_018706.7(DHTKD1):c.656T>C (p.Ile219Thr)	Inborn genetic diseases [RCV005329126]	uncertain significance	10	12087668	12087668	Human	1	name
617152047	CV4018257	single nucleotide variant	NM_018706.7(DHTKD1):c.470C>T (p.Thr157Met)	not specified [RCV005418517]	uncertain significance	10	12084699	12084699	Human		name
13436585	CV433486	single nucleotide variant	NM_018706.7(DHTKD1):c.536T>C (p.Phe179Ser)	not specified [RCV000507415]	uncertain significance	10	12087548	12087548	Human		name
13437122	CV433487	single nucleotide variant	NM_018706.7(DHTKD1):c.721A>T (p.Met241Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV002056905]\|not provided [RCV003480659]\|not specified [RCV000508331]	likely benign\|uncertain significance	10	12088989	12088989	Human	1	name
13532151	CV511855	single nucleotide variant	NM_018706.7(DHTKD1):c.305C>T (p.Thr102Met)	2-aminoadipic 2-oxoadipic aciduria [RCV003528214]\|Inborn genetic diseases [RCV000623965]	uncertain significance	10	12081622	12081622	Human	2	name
13531144	CV511856	single nucleotide variant	NM_018706.7(DHTKD1):c.626C>T (p.Ser209Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV001855294]\|Inborn genetic diseases [RCV000623083]	uncertain significance	10	12087638	12087638	Human	2	name
13819767	CV564510	single nucleotide variant	NM_018706.7(DHTKD1):c.610G>A (p.Glu204Lys)	2-aminoadipic 2-oxoadipic aciduria [RCV000694529]\|Inborn genetic diseases [RCV004609492]\|not provided [RCV002256474]	uncertain significance	10	12087622	12087622	Human	2	name
13807546	CV569524	single nucleotide variant	NM_018706.7(DHTKD1):c.923G>A (p.Arg308His)	2-aminoadipic 2-oxoadipic aciduria [RCV000701191]\|Inborn genetic diseases [RCV004026543]	uncertain significance	10	12089191	12089191	Human	2	name
15149185	CV712196	single nucleotide variant	NM_018706.7(DHTKD1):c.628G>T (p.Ala210Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV000967704]\|DHTKD1-related disorder [RCV003916242]\|not provided [RCV001726398]\|not specified [RCV001699490]	benign\|likely benign	10	12087640	12087640	Human	1	name , trait , alternate_id
15167552	CV737371	single nucleotide variant	NM_018706.7(DHTKD1):c.443A>C (p.Lys148Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV002065727]\|DHTKD1-related disorder [RCV003923044]\|not provided [RCV004707472]	likely benign	10	12084672	12084672	Human	1	name , trait , alternate_id
21073176	CV796370	single nucleotide variant	NM_018706.7(DHTKD1):c.307G>T (p.Ala103Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV001858785]\|Inborn genetic diseases [RCV002549866]\|not provided [RCV000994349]	likely benign\|uncertain significance	10	12081624	12081624	Human	2	name
26903539	CV836678	single nucleotide variant	NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV001050496]\|Inborn genetic diseases [RCV002553729]\|Tip-toe gait [RCV002221261]\|not provided [RCV001759780]	likely pathogenic\|likely benign\|uncertain significance	10	12084717	12084717	Human	3	name
28889134	CV903493	deletion	NM_018706.7(DHTKD1):c.2659del (p.Leu887fs)	Charcot-Marie-Tooth disease axonal type 2Q [RCV001169837]	uncertain significance	10	12120787	12120787	Human	1	name
38468587	CV934976	single nucleotide variant	NM_018706.7(DHTKD1):c.700C>A (p.Leu234Met)	2-aminoadipic 2-oxoadipic aciduria [RCV001202254]	uncertain significance	10	12087712	12087712	Human	1	name
126727447	CV1008909	single nucleotide variant	NM_018706.7(DHTKD1):c.1067T>C (p.Ile356Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV001312277]\|Inborn genetic diseases [RCV004978294]	uncertain significance	10	12091592	12091592	Human	2	name
126771322	CV1008910	single nucleotide variant	NM_018706.7(DHTKD1):c.2390T>C (p.Val797Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV001323095]	uncertain significance	10	12117743	12117743	Human	1	name
126747103	CV1017265	single nucleotide variant	NM_018706.7(DHTKD1):c.1382C>A (p.Thr461Lys)	2-aminoadipic 2-oxoadipic aciduria [RCV001331062]\|not provided [RCV001508295]	uncertain significance	10	12097707	12097707	Human	1	name
126747105	CV1017266	single nucleotide variant	NM_018706.7(DHTKD1):c.1382C>G (p.Thr461Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV001331063]\|Inborn genetic diseases [RCV005330705]	uncertain significance	10	12097707	12097707	Human	2	name
126747115	CV1017267	single nucleotide variant	NM_018706.7(DHTKD1):c.1594C>T (p.Arg532Trp)	2-aminoadipic 2-oxoadipic aciduria [RCV001331066]	uncertain significance	10	12097919	12097919	Human	1	name
126740135	CV1020692	single nucleotide variant	NM_018706.7(DHTKD1):c.1363C>T (p.Arg455Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV001865840]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV001335922]\|DHTKD1-related disorder [RCV004749660]	pathogenic\|likely pathogenic	10	12097688	12097688	Human	2	name , trait , alternate_id
126740144	CV1020693	single nucleotide variant	NM_018706.7(DHTKD1):c.2266A>T (p.Asn756Tyr)	2-aminoadipic 2-oxoadipic aciduria [RCV001335924]	uncertain significance	10	12113011	12113011	Human	1	name
127288121	CV1152431	single nucleotide variant	NM_018706.7(DHTKD1):c.1508T>C (p.Leu503Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV002567990]\|not provided [RCV001508296]	uncertain significance	10	12097833	12097833	Human	1	name
127320444	CV1156368	single nucleotide variant	NM_018706.7(DHTKD1):c.1821C>G (p.Ile607Met)	2-aminoadipic 2-oxoadipic aciduria [RCV001522637]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV001658230]\|not provided [RCV001647322]\|not specified [RCV001529728]	benign	10	12101106	12101106	Human	2	name
150411855	CV1196049	single nucleotide variant	NM_018706.7(DHTKD1):c.2303T>C (p.Met768Thr)	not provided [RCV001573861]	uncertain significance	10	12113048	12113048	Human		name
150531940	CV1306149	single nucleotide variant	NM_018706.7(DHTKD1):c.2585G>T (p.Ser862Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV001885085]\|Tip-toe gait [RCV003320378]\|not provided [RCV001757338]	uncertain significance	10	12120194	12120194	Human	2	name
151235429	CV1318743	single nucleotide variant	NM_018706.7(DHTKD1):c.1229G>A (p.Arg410Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV001795560]	uncertain significance	10	12094142	12094142	Human	1	name
151352533	CV1321564	single nucleotide variant	NM_018706.7(DHTKD1):c.2629C>G (p.Pro877Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV001869474]\|not provided [RCV001811937]	uncertain significance	10	12120238	12120238	Human	1	name
151662197	CV1330295	single nucleotide variant	NM_018706.7(DHTKD1):c.1391A>G (p.Glu464Gly)	Charcot-Marie-Tooth disease axonal type 2Q [RCV001823707]	uncertain significance	10	12097716	12097716	Human	1	name
151859930	CV1337485	single nucleotide variant	NM_018706.7(DHTKD1):c.1846A>G (p.Thr616Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV001923867]	uncertain significance	10	12101131	12101131	Human	1	name
151893172	CV1337884	single nucleotide variant	NM_018706.7(DHTKD1):c.2497A>G (p.Ile833Val)	2-aminoadipic 2-oxoadipic aciduria [RCV001944818]	uncertain significance	10	12118843	12118843	Human	1	name
151770428	CV1339976	single nucleotide variant	NM_018706.7(DHTKD1):c.2014G>A (p.Ala672Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV001874395]	uncertain significance	10	12106363	12106363	Human	1	name
151826955	CV1340987	single nucleotide variant	NM_018706.7(DHTKD1):c.2627C>T (p.Ser876Phe)	2-aminoadipic 2-oxoadipic aciduria [RCV001955301]	uncertain significance	10	12120236	12120236	Human	1	name
151791538	CV1341296	single nucleotide variant	NM_018706.7(DHTKD1):c.1886G>A (p.Gly629Glu)	2-aminoadipic 2-oxoadipic aciduria [RCV001866293]	uncertain significance	10	12101171	12101171	Human	1	name
151778459	CV1342837	single nucleotide variant	NM_018706.7(DHTKD1):c.2663G>A (p.Arg888His)	2-aminoadipic 2-oxoadipic aciduria [RCV001988906]\|Inborn genetic diseases [RCV005331114]	uncertain significance	10	12120791	12120791	Human	2	name
151812968	CV1343689	single nucleotide variant	NM_018706.7(DHTKD1):c.2611C>T (p.Pro871Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV001918796]	uncertain significance	10	12120220	12120220	Human	1	name
151765884	CV1348527	single nucleotide variant	NM_018706.7(DHTKD1):c.1981T>G (p.Trp661Gly)	2-aminoadipic 2-oxoadipic aciduria [RCV001895849]	uncertain significance	10	12106330	12106330	Human	1	name
151733021	CV1355679	single nucleotide variant	NM_018706.7(DHTKD1):c.1394A>T (p.His465Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV001984403]	uncertain significance	10	12097719	12097719	Human	1	name
151796438	CV1356051	single nucleotide variant	NM_018706.7(DHTKD1):c.2106T>G (p.Asp702Glu)	2-aminoadipic 2-oxoadipic aciduria [RCV002027688]	uncertain significance	10	12107967	12107967	Human	1	name
151836531	CV1367232	single nucleotide variant	NM_018706.7(DHTKD1):c.2465C>T (p.Ser822Phe)	2-aminoadipic 2-oxoadipic aciduria [RCV001994249]	uncertain significance	10	12118811	12118811	Human	1	name
151805570	CV1371998	single nucleotide variant	NM_018706.7(DHTKD1):c.2018A>G (p.Gln673Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV001953327]	uncertain significance	10	12106367	12106367	Human	1	name
151711433	CV1373702	single nucleotide variant	NM_018706.7(DHTKD1):c.2062C>T (p.Leu688Phe)	2-aminoadipic 2-oxoadipic aciduria [RCV001889466]	uncertain significance	10	12107923	12107923	Human	1	name
151861182	CV1374188	single nucleotide variant	NM_018706.7(DHTKD1):c.1769G>T (p.Arg590Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV001938564]\|not provided [RCV003146354]	uncertain significance	10	12101054	12101054	Human	1	name
151863413	CV1374405	single nucleotide variant	NM_018706.7(DHTKD1):c.2686C>T (p.Pro896Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV001884230]	uncertain significance	10	12120814	12120814	Human	1	name
151784698	CV1374555	single nucleotide variant	NM_018706.7(DHTKD1):c.2206G>A (p.Val736Met)	2-aminoadipic 2-oxoadipic aciduria [RCV001875698]	uncertain significance	10	12112951	12112951	Human	1	name
151851514	CV1378160	single nucleotide variant	NM_018706.7(DHTKD1):c.1266T>A (p.Asp422Glu)	2-aminoadipic 2-oxoadipic aciduria [RCV002016649]	uncertain significance	10	12094179	12094179	Human	1	name
151839574	CV1382921	single nucleotide variant	NM_018706.7(DHTKD1):c.2650G>C (p.Ala884Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV002031658]	uncertain significance	10	12120259	12120259	Human	1	name
151878297	CV1383437	single nucleotide variant	NM_018706.7(DHTKD1):c.1180A>G (p.Ile394Val)	2-aminoadipic 2-oxoadipic aciduria [RCV001907343]	uncertain significance	10	12094093	12094093	Human	1	name
151817609	CV1385635	single nucleotide variant	NM_018706.7(DHTKD1):c.1037T>C (p.Phe346Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV002013058]	uncertain significance	10	12091562	12091562	Human	1	name
151851170	CV1386087	single nucleotide variant	NM_018706.7(DHTKD1):c.2176G>C (p.Gly726Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV001937366]	uncertain significance	10	12112921	12112921	Human	1	name
151871413	CV1392685	single nucleotide variant	NM_018706.7(DHTKD1):c.2575C>A (p.His859Asn)	2-aminoadipic 2-oxoadipic aciduria [RCV001925270]	uncertain significance	10	12120184	12120184	Human	1	name
151853087	CV1397732	single nucleotide variant	NM_018706.7(DHTKD1):c.2285T>C (p.Ile762Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV001958253]	uncertain significance	10	12113030	12113030	Human	1	name
151835772	CV1397938	single nucleotide variant	NM_018706.7(DHTKD1):c.2695G>A (p.Ala899Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV001977123]	uncertain significance	10	12120823	12120823	Human	1	name
151880923	CV1411484	single nucleotide variant	NM_018706.7(DHTKD1):c.1267G>A (p.Val423Met)	2-aminoadipic 2-oxoadipic aciduria [RCV002020148]	uncertain significance	10	12094180	12094180	Human	1	name
151834267	CV1413002	single nucleotide variant	NM_018706.7(DHTKD1):c.1450T>C (p.Tyr484His)	2-aminoadipic 2-oxoadipic aciduria [RCV002014614]	uncertain significance	10	12097775	12097775	Human	1	name
151843201	CV1418406	single nucleotide variant	NM_018706.7(DHTKD1):c.2675G>T (p.Arg892Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV001903101]\|Inborn genetic diseases [RCV004611960]\|not specified [RCV005238043]	uncertain significance	10	12120803	12120803	Human	2	name
151886082	CV1418491	single nucleotide variant	NM_018706.7(DHTKD1):c.2175G>T (p.Glu725Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV001887485]	uncertain significance	10	12112920	12112920	Human	1	name
151880076	CV1421202	single nucleotide variant	NM_018706.7(DHTKD1):c.1432T>A (p.Ser478Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV001886343]	uncertain significance	10	12097757	12097757	Human	1	name
151792357	CV1422907	single nucleotide variant	NM_018706.7(DHTKD1):c.1742C>G (p.Ser581Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV001916941]\|Inborn genetic diseases [RCV003303405]\|not provided [RCV002261423]	uncertain significance	10	12100248	12100248	Human	2	name
151808394	CV1423302	single nucleotide variant	NM_018706.7(DHTKD1):c.1477A>G (p.Asn493Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV002012194]	uncertain significance	10	12097802	12097802	Human	1	name
151763758	CV1425701	single nucleotide variant	NM_018706.7(DHTKD1):c.2135G>A (p.Arg712Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV001928826]	uncertain significance	10	12107996	12107996	Human	1	name
151804657	CV1429755	single nucleotide variant	NM_018706.7(DHTKD1):c.2456A>G (p.Gln819Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV001974225]\|Inborn genetic diseases [RCV003289339]	uncertain significance	10	12118802	12118802	Human	2	name
151749314	CV1431133	single nucleotide variant	NM_018706.7(DHTKD1):c.1040C>T (p.Thr347Met)	2-aminoadipic 2-oxoadipic aciduria [RCV001912815]	uncertain significance	10	12091565	12091565	Human	1	name
151731524	CV1436224	single nucleotide variant	NM_018706.7(DHTKD1):c.2429G>A (p.Gly810Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV002004822]\|Inborn genetic diseases [RCV002563590]	uncertain significance	10	12118775	12118775	Human	2	name
151723963	CV1439770	single nucleotide variant	NM_018706.7(DHTKD1):c.1402G>A (p.Ala468Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV002040447]	uncertain significance	10	12097727	12097727	Human	1	name
151849166	CV1439973	single nucleotide variant	NM_018706.7(DHTKD1):c.2525C>T (p.Pro842Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV002016338]	uncertain significance	10	12118871	12118871	Human	1	name
151729422	CV1444711	single nucleotide variant	NM_018706.7(DHTKD1):c.1720G>A (p.Ala574Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV001945887]\|Inborn genetic diseases [RCV003167296]	uncertain significance	10	12100226	12100226	Human	2	name
151738494	CV1455065	single nucleotide variant	NM_018706.7(DHTKD1):c.2684T>G (p.Leu895Trp)	2-aminoadipic 2-oxoadipic aciduria [RCV002005576]	uncertain significance	10	12120812	12120812	Human	1	name
151762760	CV1456130	single nucleotide variant	NM_018706.7(DHTKD1):c.2110G>T (p.Ala704Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV002044471]	uncertain significance	10	12107971	12107971	Human	1	name
151843945	CV1457701	single nucleotide variant	NM_018706.7(DHTKD1):c.1258C>T (p.Arg420Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV001936458]\|Inborn genetic diseases [RCV002561395]	uncertain significance	10	12094171	12094171	Human	2	name
151841660	CV1463148	single nucleotide variant	NM_018706.7(DHTKD1):c.2332A>G (p.Thr778Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV002031893]	uncertain significance	10	12117685	12117685	Human	1	name
151837218	CV1469471	single nucleotide variant	NM_018706.7(DHTKD1):c.1300G>A (p.Gly434Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV002051341]	uncertain significance	10	12094213	12094213	Human	1	name
151873828	CV1470276	single nucleotide variant	NM_018706.7(DHTKD1):c.2284A>G (p.Ile762Val)	2-aminoadipic 2-oxoadipic aciduria [RCV001885609]	uncertain significance	10	12113029	12113029	Human	1	name
151744145	CV1473047	single nucleotide variant	NM_018706.7(DHTKD1):c.1952G>A (p.Ser651Asn)	2-aminoadipic 2-oxoadipic aciduria [RCV001912222]	uncertain significance	10	12106301	12106301	Human	1	name
151819701	CV1473555	single nucleotide variant	NM_018706.7(DHTKD1):c.1315G>C (p.Asp439His)	2-aminoadipic 2-oxoadipic aciduria [RCV002049667]\|not provided [RCV004694163]	uncertain significance	10	12094228	12094228	Human	1	name
151835201	CV1474688	single nucleotide variant	NM_018706.7(DHTKD1):c.1307A>G (p.Asn436Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV001920897]	uncertain significance	10	12094220	12094220	Human	1	name
151854012	CV1485280	single nucleotide variant	NM_018706.7(DHTKD1):c.1850A>C (p.Tyr617Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV002033542]\|Inborn genetic diseases [RCV004045226]	uncertain significance	10	12101135	12101135	Human	2	name
151737376	CV1489838	single nucleotide variant	NM_018706.7(DHTKD1):c.1721C>T (p.Ala574Val)	2-aminoadipic 2-oxoadipic aciduria [RCV001892916]	uncertain significance	10	12100227	12100227	Human	1	name
151819340	CV1490367	single nucleotide variant	NM_018706.7(DHTKD1):c.2559C>G (p.Tyr853Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV001992612]	pathogenic	10	12118905	12118905	Human	1	name
151839174	CV1492853	single nucleotide variant	NM_018706.7(DHTKD1):c.1961G>A (p.Ser654Asn)	2-aminoadipic 2-oxoadipic aciduria [RCV001881133]	uncertain significance	10	12106310	12106310	Human	1	name
151873016	CV1493087	single nucleotide variant	NM_018706.7(DHTKD1):c.1259G>A (p.Arg420His)	2-aminoadipic 2-oxoadipic aciduria [RCV001906730]\|Inborn genetic diseases [RCV004042675]\|not provided [RCV004693925]	uncertain significance	10	12094172	12094172	Human	2	name
151778904	CV1493423	single nucleotide variant	NM_018706.7(DHTKD1):c.1864C>T (p.His622Tyr)	2-aminoadipic 2-oxoadipic aciduria [RCV001915692]	uncertain significance	10	12101149	12101149	Human	1	name
151709052	CV1495329	single nucleotide variant	NM_018706.7(DHTKD1):c.1685A>G (p.Lys562Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV002001571]	uncertain significance	10	12100191	12100191	Human	1	name
151720224	CV1498290	single nucleotide variant	NM_018706.7(DHTKD1):c.2675G>A (p.Arg892Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV001965860]	uncertain significance	10	12120803	12120803	Human	1	name
151710526	CV1500533	single nucleotide variant	NM_018706.7(DHTKD1):c.1853T>A (p.Ile618Asn)	2-aminoadipic 2-oxoadipic aciduria [RCV002001864]\|Inborn genetic diseases [RCV003167385]	uncertain significance	10	12101138	12101138	Human	2	name
151753734	CV1501352	single nucleotide variant	NM_018706.7(DHTKD1):c.2662C>T (p.Arg888Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV001969462]	uncertain significance	10	12120790	12120790	Human	1	name
151732544	CV1509773	single nucleotide variant	NM_018706.7(DHTKD1):c.2614T>C (p.Trp872Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV001892408]	uncertain significance	10	12120223	12120223	Human	1	name
151715161	CV1510752	single nucleotide variant	NM_018706.7(DHTKD1):c.1326C>G (p.Phe442Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV001965083]\|Inborn genetic diseases [RCV004043017]\|not provided [RCV004571663]	uncertain significance	10	12094239	12094239	Human	2	name
152161930	CV1606239	single nucleotide variant	NM_018706.7(DHTKD1):c.1220G>A (p.Arg407His)	2-aminoadipic 2-oxoadipic aciduria [RCV002181083]	likely benign	10	12094133	12094133	Human	1	name
153303774	CV1686456	single nucleotide variant	NM_018706.7(DHTKD1):c.1304A>G (p.His435Arg)	not provided [RCV002261890]	uncertain significance	10	12094217	12094217	Human		name
153303776	CV1686457	single nucleotide variant	NM_018706.7(DHTKD1):c.1681G>C (p.Glu561Gln)	not provided [RCV002261891]	uncertain significance	10	12100187	12100187	Human		name
153303778	CV1686458	single nucleotide variant	NM_018706.7(DHTKD1):c.2377G>A (p.Gly793Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV003095909]\|not provided [RCV002261892]	uncertain significance	10	12117730	12117730	Human	1	name
155265934	CV1696096	single nucleotide variant	NM_018706.7(DHTKD1):c.1615G>A (p.Val539Ile)	Peripheral neuropathy [RCV002280796]	uncertain significance	10	12097940	12097940	Human	2	name
155748837	CV1772436	single nucleotide variant	NM_018706.7(DHTKD1):c.1843G>A (p.Asp615Asn)	2-aminoadipic 2-oxoadipic aciduria [RCV002303970]	uncertain significance	10	12101128	12101128	Human	1	name
155696818	CV1778616	single nucleotide variant	NM_018706.7(DHTKD1):c.1498C>G (p.Pro500Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV002299683]	uncertain significance	10	12097823	12097823	Human	1	name
155698388	CV1778746	single nucleotide variant	NM_018706.7(DHTKD1):c.1604G>A (p.Gly535Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV002299783]	uncertain significance	10	12097929	12097929	Human	1	name
155739498	CV1779582	single nucleotide variant	NM_018706.7(DHTKD1):c.2623G>A (p.Val875Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV002302222]	uncertain significance	10	12120232	12120232	Human	1	name
156212739	CV1872521	single nucleotide variant	NM_018706.7(DHTKD1):c.2023A>G (p.Ile675Val)	2-aminoadipic 2-oxoadipic aciduria [RCV003058595]	uncertain significance	10	12106372	12106372	Human	1	name
156386534	CV1875020	single nucleotide variant	NM_018706.7(DHTKD1):c.2494A>G (p.Ile832Val)	2-aminoadipic 2-oxoadipic aciduria [RCV003050906]	uncertain significance	10	12118840	12118840	Human	1	name
156153481	CV1875276	single nucleotide variant	NM_018706.7(DHTKD1):c.1097A>G (p.Asn366Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV003056620]	uncertain significance	10	12091622	12091622	Human	1	name
155996480	CV1875879	single nucleotide variant	NM_018706.7(DHTKD1):c.1186C>T (p.His396Tyr)	2-aminoadipic 2-oxoadipic aciduria [RCV003076369]	uncertain significance	10	12094099	12094099	Human	1	name
155953261	CV1876471	single nucleotide variant	NM_018706.7(DHTKD1):c.2428G>A (p.Gly810Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV003074273]	uncertain significance	10	12118774	12118774	Human	1	name
155953008	CV1880329	single nucleotide variant	NM_018706.7(DHTKD1):c.2113G>A (p.Gly705Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003074259]\|Inborn genetic diseases [RCV004614329]	uncertain significance	10	12107974	12107974	Human	2	name
156388128	CV1888256	single nucleotide variant	NM_018706.7(DHTKD1):c.1585G>A (p.Asp529Asn)	2-aminoadipic 2-oxoadipic aciduria [RCV003067733]\|Inborn genetic diseases [RCV003071958]	uncertain significance	10	12097910	12097910	Human	2	name
156354750	CV1894691	single nucleotide variant	NM_018706.7(DHTKD1):c.1705C>G (p.Leu569Val)	2-aminoadipic 2-oxoadipic aciduria [RCV003091258]	uncertain significance	10	12100211	12100211	Human	1	name
156375815	CV1899594	single nucleotide variant	NM_018706.7(DHTKD1):c.2264G>A (p.Arg755Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV003092861]	uncertain significance	10	12113009	12113009	Human	1	name
156027478	CV1906789	single nucleotide variant	NM_018706.7(DHTKD1):c.2566G>C (p.Val856Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV003100494]	uncertain significance	10	12118912	12118912	Human	1	name
156160738	CV1906884	single nucleotide variant	NM_018706.7(DHTKD1):c.1638G>C (p.Gln546His)	2-aminoadipic 2-oxoadipic aciduria [RCV003082883]\|Inborn genetic diseases [RCV005333491]	uncertain significance	10	12097963	12097963	Human	2	name
156080265	CV1908890	single nucleotide variant	NM_018706.7(DHTKD1):c.1960A>T (p.Ser654Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV002591555]	likely benign	10	12106309	12106309	Human	1	name
156080295	CV1908891	single nucleotide variant	NM_018706.7(DHTKD1):c.1219C>T (p.Arg407Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV002591556]	uncertain significance	10	12094132	12094132	Human	1	name
155959307	CV1911989	single nucleotide variant	NM_018706.7(DHTKD1):c.2041T>A (p.Ser681Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV002616652]	uncertain significance	10	12106390	12106390	Human	1	name
155959527	CV1912006	single nucleotide variant	NM_018706.7(DHTKD1):c.1390G>A (p.Glu464Lys)	2-aminoadipic 2-oxoadipic aciduria [RCV002616663]\|not specified [RCV003324076]	uncertain significance	10	12097715	12097715	Human	1	name
156304649	CV1916347	single nucleotide variant	NM_018706.7(DHTKD1):c.1399A>G (p.Ile467Val)	2-aminoadipic 2-oxoadipic aciduria [RCV002599340]	uncertain significance	10	12097724	12097724	Human	1	name
156101673	CV1916923	single nucleotide variant	NM_018706.7(DHTKD1):c.2009A>G (p.Asn670Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV002592297]\|Inborn genetic diseases [RCV002611130]	uncertain significance	10	12106358	12106358	Human	2	name
156132837	CV1918182	single nucleotide variant	NM_018706.7(DHTKD1):c.2156T>G (p.Met719Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV002623375]	uncertain significance	10	12112901	12112901	Human	1	name
156379473	CV1927409	single nucleotide variant	NM_018706.7(DHTKD1):c.2689G>A (p.Val897Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV002634150]	uncertain significance	10	12120817	12120817	Human	1	name
156375695	CV1930449	single nucleotide variant	NM_018706.7(DHTKD1):c.1497G>T (p.Arg499Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV002633813]	uncertain significance	10	12097822	12097822	Human	1	name
156154920	CV1931341	single nucleotide variant	NM_018706.7(DHTKD1):c.1250G>A (p.Arg417His)	2-aminoadipic 2-oxoadipic aciduria [RCV002664030]\|not specified [RCV005239701]	uncertain significance	10	12094163	12094163	Human	1	name
156156295	CV1931535	single nucleotide variant	NM_018706.7(DHTKD1):c.1927G>A (p.Val643Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV002664077]	uncertain significance	10	12106276	12106276	Human	1	name
155946317	CV1935647	single nucleotide variant	NM_018706.7(DHTKD1):c.1999G>A (p.Asp667Asn)	not provided [RCV002511396]	uncertain significance	10	12106348	12106348	Human		name
156447449	CV1945402	single nucleotide variant	NM_018706.7(DHTKD1):c.1709A>T (p.Asp570Val)	2-aminoadipic 2-oxoadipic aciduria [RCV003118977]	uncertain significance	10	12100215	12100215	Human	1	name
156444671	CV1948398	single nucleotide variant	NM_018706.7(DHTKD1):c.2096A>G (p.His699Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003115596]\|not provided [RCV003481447]	uncertain significance	10	12107957	12107957	Human	1	name
155963834	CV1952237	single nucleotide variant	NM_018706.7(DHTKD1):c.2546A>T (p.Glu849Val)	Charcot-Marie-Tooth disease axonal type 2Q [RCV002512507]	uncertain significance	10	12118892	12118892	Human	1	name
156296182	CV1955302	single nucleotide variant	NM_018706.7(DHTKD1):c.1505C>T (p.Ala502Val)	2-aminoadipic 2-oxoadipic aciduria [RCV002578019]	uncertain significance	10	12097830	12097830	Human	1	name
156244525	CV1973359	single nucleotide variant	NM_018706.7(DHTKD1):c.2425T>C (p.Ser809Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV002597260]	uncertain significance	10	12118771	12118771	Human	1	name
156090758	CV1984055	single nucleotide variant	NM_018706.7(DHTKD1):c.1813C>T (p.His605Tyr)	2-aminoadipic 2-oxoadipic aciduria [RCV002621850]	uncertain significance	10	12101098	12101098	Human	1	name
156353763	CV1985861	single nucleotide variant	NM_018706.7(DHTKD1):c.2369C>T (p.Pro790Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV002632173]	uncertain significance	10	12117722	12117722	Human	1	name
156414079	CV1986466	single nucleotide variant	NM_018706.7(DHTKD1):c.1531G>C (p.Gly511Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV002609039]\|Inborn genetic diseases [RCV004973508]	uncertain significance	10	12097856	12097856	Human	2	name
156085489	CV1987583	single nucleotide variant	NM_018706.7(DHTKD1):c.1647T>A (p.Ser549Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV002621682]\|not provided [RCV004798006]	uncertain significance	10	12097972	12097972	Human	1	name
156402995	CV1988860	single nucleotide variant	NM_018706.7(DHTKD1):c.1769G>A (p.Arg590His)	2-aminoadipic 2-oxoadipic aciduria [RCV002605814]	uncertain significance	10	12101054	12101054	Human	1	name
156072980	CV1989156	single nucleotide variant	NM_018706.7(DHTKD1):c.1906A>G (p.Ser636Gly)	2-aminoadipic 2-oxoadipic aciduria [RCV002638657]\|not specified [RCV003403880]	uncertain significance	10	12106255	12106255	Human	1	name
156107670	CV1996785	single nucleotide variant	NM_018706.7(DHTKD1):c.1099C>G (p.Gln367Glu)	2-aminoadipic 2-oxoadipic aciduria [RCV002662360]	uncertain significance	10	12091624	12091624	Human	1	name
156351042	CV1997599	single nucleotide variant	NM_018706.7(DHTKD1):c.1565G>A (p.Trp522Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV002675595]	pathogenic	10	12097890	12097890	Human	1	name
156306762	CV1999873	single nucleotide variant	NM_018706.7(DHTKD1):c.2392G>T (p.Asp798Tyr)	2-aminoadipic 2-oxoadipic aciduria [RCV002671419]	uncertain significance	10	12117745	12117745	Human	1	name
156269259	CV2004016	single nucleotide variant	NM_018706.7(DHTKD1):c.2549T>C (p.Met850Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV002646477]	uncertain significance	10	12118895	12118895	Human	1	name
156358449	CV2006808	single nucleotide variant	NM_018706.7(DHTKD1):c.2482C>T (p.His828Tyr)	2-aminoadipic 2-oxoadipic aciduria [RCV002676083]	uncertain significance	10	12118828	12118828	Human	1	name
156318969	CV2014332	single nucleotide variant	NM_018706.7(DHTKD1):c.1997G>A (p.Gly666Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV002672067]	uncertain significance	10	12106346	12106346	Human	1	name
156297191	CV2017120	single nucleotide variant	NM_018706.7(DHTKD1):c.1150A>G (p.Ser384Gly)	2-aminoadipic 2-oxoadipic aciduria [RCV002715895]	uncertain significance	10	12091675	12091675	Human	1	name
155994337	CV2023486	single nucleotide variant	NM_018706.7(DHTKD1):c.1913T>C (p.Leu638Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV002755891]	uncertain significance	10	12106262	12106262	Human	1	name
156372850	CV2028234	single nucleotide variant	NM_018706.7(DHTKD1):c.1664A>G (p.His555Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV002721665]	uncertain significance	10	12097989	12097989	Human	1	name
156266271	CV2030473	single nucleotide variant	NM_018706.7(DHTKD1):c.2242T>G (p.Leu748Val)	2-aminoadipic 2-oxoadipic aciduria [RCV002746482]	uncertain significance	10	12112987	12112987	Human	1	name
156371482	CV2031152	single nucleotide variant	NM_018706.7(DHTKD1):c.2685G>C (p.Leu895Phe)	2-aminoadipic 2-oxoadipic aciduria [RCV002721550]	uncertain significance	10	12120813	12120813	Human	1	name
156124467	CV2036235	single nucleotide variant	NM_018706.7(DHTKD1):c.1339A>G (p.Ile447Val)	2-aminoadipic 2-oxoadipic aciduria [RCV002800360]	uncertain significance	10	12094252	12094252	Human	1	name
156131022	CV2036561	single nucleotide variant	NM_018706.7(DHTKD1):c.2743G>C (p.Ala915Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV002786169]	uncertain significance	10	12120871	12120871	Human	1	name
156125134	CV2046635	single nucleotide variant	NM_018706.7(DHTKD1):c.1418C>T (p.Thr473Met)	2-aminoadipic 2-oxoadipic aciduria [RCV002800385]\|Inborn genetic diseases [RCV003167751]	uncertain significance	10	12097743	12097743	Human	2	name
156157414	CV2049365	single nucleotide variant	NM_018706.7(DHTKD1):c.1562C>G (p.Thr521Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV002801503]	uncertain significance	10	12097887	12097887	Human	1	name
156004803	CV2054242	single nucleotide variant	NM_018706.7(DHTKD1):c.2573A>C (p.Asp858Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV002819829]	uncertain significance	10	12120182	12120182	Human	1	name
156026998	CV2055883	single nucleotide variant	NM_018706.7(DHTKD1):c.1630G>C (p.Glu544Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV002820893]	uncertain significance	10	12097955	12097955	Human	1	name
156352359	CV2065921	single nucleotide variant	NM_018706.7(DHTKD1):c.1879C>T (p.Gln627Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV002811878]	pathogenic	10	12101164	12101164	Human	1	name
156298054	CV2069751	single nucleotide variant	NM_018706.7(DHTKD1):c.2432A>G (p.Lys811Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV002833489]\|not provided [RCV003443084]	uncertain significance	10	12118778	12118778	Human	1	name
156171610	CV2075599	single nucleotide variant	NM_018706.7(DHTKD1):c.2175G>C (p.Glu725Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV002851548]	uncertain significance	10	12112920	12112920	Human	1	name
156090596	CV2092335	single nucleotide variant	NM_018706.7(DHTKD1):c.2743G>A (p.Ala915Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV002913022]	uncertain significance	10	12120871	12120871	Human	1	name
156259117	CV2113602	single nucleotide variant	NM_018706.7(DHTKD1):c.2104G>A (p.Asp702Asn)	2-aminoadipic 2-oxoadipic aciduria [RCV002933814]	uncertain significance	10	12107965	12107965	Human	1	name
156228167	CV2115523	single nucleotide variant	NM_018706.7(DHTKD1):c.2705T>C (p.Ile902Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV002918830]	uncertain significance	10	12120833	12120833	Human	1	name
156324062	CV2134372	single nucleotide variant	NM_018706.7(DHTKD1):c.1753C>G (p.Gln585Glu)	2-aminoadipic 2-oxoadipic aciduria [RCV002963404]	uncertain significance	10	12100259	12100259	Human	1	name
10405844	CV213597	single nucleotide variant	NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV002515470]\|2-aminoadipic 2-oxoadipic aciduria [RCV003883140]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV000198805]\|not provided [RCV000579104]	pathogenic\|likely pathogenic\|uncertain significance	10	12118846	12118846	Human	2	name
155948193	CV2136635	single nucleotide variant	NM_018706.7(DHTKD1):c.1846A>C (p.Thr616Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV002994469]	uncertain significance	10	12101131	12101131	Human	1	name
156161049	CV2136793	single nucleotide variant	NM_018706.7(DHTKD1):c.2750C>G (p.Thr917Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV003005063]	uncertain significance	10	12120878	12120878	Human	1	name
156093262	CV2151932	single nucleotide variant	NM_018706.7(DHTKD1):c.2351C>T (p.Pro784Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV003020764]	uncertain significance	10	12117704	12117704	Human	1	name
156305676	CV2167509	single nucleotide variant	NM_018706.7(DHTKD1):c.2048G>T (p.Gly683Val)	2-aminoadipic 2-oxoadipic aciduria [RCV003045766]	uncertain significance	10	12107909	12107909	Human	1	name
156012491	CV2172363	single nucleotide variant	NM_018706.7(DHTKD1):c.2718C>A (p.His906Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV003035318]	uncertain significance	10	12120846	12120846	Human	1	name
156123348	CV2175085	single nucleotide variant	NM_018706.7(DHTKD1):c.2401A>T (p.Lys801Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV003055553]	pathogenic	10	12117754	12117754	Human	1	name
156129310	CV2184932	single nucleotide variant	NM_018706.7(DHTKD1):c.1624C>T (p.Pro542Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV003039632]	uncertain significance	10	12097949	12097949	Human	1	name
156114962	CV2208959	single nucleotide variant	NM_018706.7(DHTKD1):c.1696G>A (p.Gly566Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003528432]\|Inborn genetic diseases [RCV002707453]	uncertain significance	10	12100202	12100202	Human	2	name
156223145	CV2209148	single nucleotide variant	NM_018706.7(DHTKD1):c.2168C>T (p.Ala723Val)	2-aminoadipic 2-oxoadipic aciduria [RCV003777657]\|Inborn genetic diseases [RCV002712258]	uncertain significance	10	12112913	12112913	Human	2	name
156113251	CV2212680	single nucleotide variant	NM_018706.7(DHTKD1):c.2618C>T (p.Ser873Leu)	Inborn genetic diseases [RCV002707344]	uncertain significance	10	12120227	12120227	Human	1	name
156256670	CV2219785	single nucleotide variant	NM_018706.7(DHTKD1):c.2583G>A (p.Trp861Ter)	Inborn genetic diseases [RCV002702773]	pathogenic	10	12120192	12120192	Human	1	name
156072324	CV2267471	single nucleotide variant	NM_018706.7(DHTKD1):c.1812G>C (p.Arg604Ser)	Inborn genetic diseases [RCV002823521]	uncertain significance	10	12101097	12101097	Human	1	name
155992174	CV2286175	single nucleotide variant	NM_018706.7(DHTKD1):c.2621T>G (p.Phe874Cys)	Inborn genetic diseases [RCV002864605]	uncertain significance	10	12120230	12120230	Human	1	name
156084011	CV2299029	single nucleotide variant	NM_018706.7(DHTKD1):c.1703A>T (p.Lys568Met)	Inborn genetic diseases [RCV002887606]	uncertain significance	10	12100209	12100209	Human	1	name
156290574	CV2324917	single nucleotide variant	NM_018706.7(DHTKD1):c.1114A>G (p.Thr372Ala)	Charcot-Marie-Tooth disease axonal type 2Q [RCV005252065]\|Inborn genetic diseases [RCV002935577]	uncertain significance	10	12091639	12091639	Human	2	name
156198814	CV2362819	single nucleotide variant	NM_018706.7(DHTKD1):c.2263C>T (p.Arg755Trp)	2-aminoadipic 2-oxoadipic aciduria [RCV003643038]\|Inborn genetic diseases [RCV002666343]	uncertain significance	10	12113008	12113008	Human	2	name
329371099	CV2431866	single nucleotide variant	NM_018706.7(DHTKD1):c.1604G>T (p.Gly535Val)	Inborn genetic diseases [RCV003184408]	uncertain significance	10	12097929	12097929	Human	1	name
329952992	CV2669701	deletion	NM_018706.7(DHTKD1):c.79_128del (p.Glu27fs)	2-aminoadipic 2-oxoadipic aciduria [RCV003528451]\|not provided [RCV003234325]	pathogenic\|uncertain significance	10	12069110	12069159	Human	1	name
329955056	CV2670996	single nucleotide variant	NM_018706.7(DHTKD1):c.2235T>G (p.Tyr745Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV003236265]	pathogenic	10	12112980	12112980	Human	1	name
401724489	CV2672271	single nucleotide variant	NM_018706.7(DHTKD1):c.1709A>G (p.Asp570Gly)	2-aminoadipic 2-oxoadipic aciduria [RCV003528452]\|not provided [RCV003239172]	uncertain significance	10	12100215	12100215	Human	1	name
401745754	CV2695434	single nucleotide variant	NM_018706.7(DHTKD1):c.1904A>G (p.Asn635Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV005102592]\|Inborn genetic diseases [RCV003275568]	uncertain significance	10	12106253	12106253	Human	2	name
401735657	CV2702835	single nucleotide variant	NM_018706.7(DHTKD1):c.1259G>T (p.Arg420Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV005061196]\|Inborn genetic diseases [RCV003272971]	uncertain significance	10	12094172	12094172	Human	2	name
401828489	CV2743346	single nucleotide variant	NM_018706.7(DHTKD1):c.1003T>A (p.Ser335Thr)	not provided [RCV003326188]	uncertain significance	10	12091528	12091528	Human		name
401877396	CV2769440	single nucleotide variant	NM_018706.7(DHTKD1):c.1928T>C (p.Val643Ala)	Inborn genetic diseases [RCV003348407]	uncertain significance	10	12106277	12106277	Human	1	name
401896905	CV2788855	single nucleotide variant	NM_018706.7(DHTKD1):c.1133G>A (p.Arg378Lys)	Inborn genetic diseases [RCV003374475]	uncertain significance	10	12091658	12091658	Human	1	name
401898308	CV2791042	single nucleotide variant	NM_018706.7(DHTKD1):c.1889T>G (p.Phe630Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV005104152]\|Inborn genetic diseases [RCV003376417]	uncertain significance	10	12101174	12101174	Human	2	name
401931738	CV2801669	single nucleotide variant	NM_018706.7(DHTKD1):c.2061G>A (p.Trp687Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV003778262]\|DHTKD1-related disorder [RCV003391577]	pathogenic\|likely pathogenic	10	12107922	12107922	Human	1	name , trait , alternate_id
401938108	CV2812993	single nucleotide variant	NM_018706.7(DHTKD1):c.2326G>A (p.Val776Met)	2-aminoadipic 2-oxoadipic aciduria [RCV005100011]\|not provided [RCV003417215]	uncertain significance	10	12117679	12117679	Human	1	name
401938109	CV2812994	single nucleotide variant	NM_018706.7(DHTKD1):c.2416G>A (p.Val806Met)	2-aminoadipic 2-oxoadipic aciduria [RCV003528471]\|not provided [RCV003417216]	uncertain significance	10	12118762	12118762	Human	1	name
401938110	CV2812995	single nucleotide variant	NM_018706.7(DHTKD1):c.2509G>A (p.Glu837Lys)	not provided [RCV003417217]	uncertain significance	10	12118855	12118855	Human		name
401938111	CV2812996	single nucleotide variant	NM_018706.7(DHTKD1):c.2537T>C (p.Leu846Ser)	not provided [RCV003417218]	uncertain significance	10	12118883	12118883	Human		name
401961800	CV2844122	single nucleotide variant	NM_018706.7(DHTKD1):c.2302A>T (p.Met768Leu)	not provided [RCV003481962]	uncertain significance	10	12113047	12113047	Human		name
405022142	CV2858994	single nucleotide variant	NM_018706.7(DHTKD1):c.1150A>T (p.Ser384Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV003528602]	uncertain significance	10	12091675	12091675	Human	1	name
405026749	CV2872697	single nucleotide variant	NM_018706.7(DHTKD1):c.1193A>G (p.Asn398Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV003529052]	uncertain significance	10	12094106	12094106	Human	1	name
405026778	CV2872797	single nucleotide variant	NM_018706.7(DHTKD1):c.1711T>C (p.Trp571Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003529054]	uncertain significance	10	12100217	12100217	Human	1	name
405025446	CV2878384	single nucleotide variant	NM_018706.7(DHTKD1):c.2727G>T (p.Gln909His)	2-aminoadipic 2-oxoadipic aciduria [RCV003528942]	uncertain significance	10	12120855	12120855	Human	1	name
405029609	CV2882542	single nucleotide variant	NM_018706.7(DHTKD1):c.1553A>C (p.Gln518Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV003529311]	uncertain significance	10	12097878	12097878	Human	1	name
405030730	CV2889653	single nucleotide variant	NM_018706.7(DHTKD1):c.1995T>G (p.Phe665Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV003529364]	uncertain significance	10	12106344	12106344	Human	1	name
405029115	CV2892461	single nucleotide variant	NM_018706.7(DHTKD1):c.1669C>T (p.Gln557Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV003529268]	pathogenic	10	12097994	12097994	Human	1	name
405036025	CV2896745	single nucleotide variant	NM_018706.7(DHTKD1):c.1496G>A (p.Arg499Lys)	2-aminoadipic 2-oxoadipic aciduria [RCV003529623]	uncertain significance	10	12097821	12097821	Human	1	name
405015140	CV2920150	single nucleotide variant	NM_018706.7(DHTKD1):c.2264G>C (p.Arg755Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV003527655]	uncertain significance	10	12113009	12113009	Human	1	name
405017802	CV2926766	single nucleotide variant	NM_018706.7(DHTKD1):c.2012G>A (p.Gly671Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV003527913]	uncertain significance	10	12106361	12106361	Human	1	name
405018547	CV2930288	single nucleotide variant	NM_018706.7(DHTKD1):c.2441A>G (p.Tyr814Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV003527986]\|Inborn genetic diseases [RCV004980893]	uncertain significance	10	12118787	12118787	Human	2	name
402484137	CV2936723	single nucleotide variant	NM_018706.7(DHTKD1):c.1645A>G (p.Ser549Gly)	2-aminoadipic 2-oxoadipic aciduria [RCV003643109]	uncertain significance	10	12097970	12097970	Human	1	name
402484306	CV2940132	single nucleotide variant	NM_018706.7(DHTKD1):c.1999G>C (p.Asp667His)	2-aminoadipic 2-oxoadipic aciduria [RCV003643124]	uncertain significance	10	12106348	12106348	Human	1	name
402484843	CV2944876	single nucleotide variant	NM_018706.7(DHTKD1):c.1384T>C (p.Tyr462His)	2-aminoadipic 2-oxoadipic aciduria [RCV003643174]	uncertain significance	10	12097709	12097709	Human	1	name
402486319	CV2955804	single nucleotide variant	NM_018706.7(DHTKD1):c.1019G>T (p.Gly340Val)	2-aminoadipic 2-oxoadipic aciduria [RCV003643346]	uncertain significance	10	12091544	12091544	Human	1	name
402487185	CV2957574	single nucleotide variant	NM_018706.7(DHTKD1):c.1055C>G (p.Pro352Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003643274]	uncertain significance	10	12091580	12091580	Human	1	name
402489320	CV2975422	single nucleotide variant	NM_018706.7(DHTKD1):c.2233T>C (p.Tyr745His)	2-aminoadipic 2-oxoadipic aciduria [RCV003643658]	uncertain significance	10	12112978	12112978	Human	1	name
402490933	CV2981704	single nucleotide variant	NM_018706.7(DHTKD1):c.1826T>C (p.Val609Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV003643822]	uncertain significance	10	12101111	12101111	Human	1	name
402492000	CV2983474	single nucleotide variant	NM_018706.7(DHTKD1):c.1664A>C (p.His555Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV003643934]	uncertain significance	10	12097989	12097989	Human	1	name
402491549	CV2986407	single nucleotide variant	NM_018706.7(DHTKD1):c.2447T>C (p.Leu816Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV003643886]	uncertain significance	10	12118793	12118793	Human	1	name
402491057	CV2988534	single nucleotide variant	NM_018706.7(DHTKD1):c.1225A>T (p.Thr409Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV003643835]	uncertain significance	10	12094138	12094138	Human	1	name
402492287	CV2994412	single nucleotide variant	NM_018706.7(DHTKD1):c.2374A>T (p.Ile792Phe)	2-aminoadipic 2-oxoadipic aciduria [RCV003643965]	uncertain significance	10	12117727	12117727	Human	1	name
402492400	CV3001268	single nucleotide variant	NM_018706.7(DHTKD1):c.2362T>C (p.Phe788Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV003643977]	uncertain significance	10	12117715	12117715	Human	1	name
402494064	CV3008083	single nucleotide variant	NM_018706.7(DHTKD1):c.2518C>T (p.Pro840Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV003644156]	uncertain significance	10	12118864	12118864	Human	1	name
402495428	CV3017456	single nucleotide variant	NM_018706.7(DHTKD1):c.2261T>A (p.Val754Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV003644315]	uncertain significance	10	12113006	12113006	Human	1	name
402495437	CV3017480	single nucleotide variant	NM_018706.7(DHTKD1):c.1847C>T (p.Thr616Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV003644316]	uncertain significance	10	12101132	12101132	Human	1	name
402495536	CV3024844	single nucleotide variant	NM_018706.7(DHTKD1):c.2523C>A (p.Phe841Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV003644326]	uncertain significance	10	12118869	12118869	Human	1	name
402495956	CV3025591	single nucleotide variant	NM_018706.7(DHTKD1):c.1081C>T (p.His361Tyr)	2-aminoadipic 2-oxoadipic aciduria [RCV003644370]	uncertain significance	10	12091606	12091606	Human	1	name
402496164	CV3025969	single nucleotide variant	NM_018706.7(DHTKD1):c.2356A>G (p.Thr786Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV003644393]	uncertain significance	10	12117709	12117709	Human	1	name
402497021	CV3031629	single nucleotide variant	NM_018706.7(DHTKD1):c.2194G>A (p.Val732Met)	2-aminoadipic 2-oxoadipic aciduria [RCV003644481]	uncertain significance	10	12112939	12112939	Human	1	name
405202640	CV3036436	single nucleotide variant	NM_018706.7(DHTKD1):c.2572G>A (p.Asp858Asn)	2-aminoadipic 2-oxoadipic aciduria [RCV003642400]	uncertain significance	10	12118918	12118918	Human	1	name
402478624	CV3037262	single nucleotide variant	NM_018706.7(DHTKD1):c.1264G>A (p.Asp422Asn)	2-aminoadipic 2-oxoadipic aciduria [RCV003642437]	uncertain significance	10	12094177	12094177	Human	1	name
402478633	CV3037284	single nucleotide variant	NM_018706.7(DHTKD1):c.1452C>G (p.Tyr484Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV003642438]	pathogenic	10	12097777	12097777	Human	1	name
402497183	CV3040682	single nucleotide variant	NM_018706.7(DHTKD1):c.1939G>A (p.Glu647Lys)	2-aminoadipic 2-oxoadipic aciduria [RCV003644498]	uncertain significance	10	12106288	12106288	Human	1	name
402497198	CV3040822	single nucleotide variant	NM_018706.7(DHTKD1):c.1955T>C (p.Ile652Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV003644500]	uncertain significance	10	12106304	12106304	Human	1	name
402479543	CV3048040	single nucleotide variant	NM_018706.7(DHTKD1):c.2166T>G (p.Ser722Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003642550]	uncertain significance	10	12112911	12112911	Human	1	name
402478781	CV3049810	single nucleotide variant	NM_018706.7(DHTKD1):c.2470G>A (p.Gly824Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003642457]	uncertain significance	10	12118816	12118816	Human	1	name
402479040	CV3053763	single nucleotide variant	NM_018706.7(DHTKD1):c.1454A>G (p.Tyr485Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV003642489]\|Inborn genetic diseases [RCV005325787]	uncertain significance	10	12097779	12097779	Human	2	name
402480383	CV3057229	single nucleotide variant	NM_018706.7(DHTKD1):c.2279C>G (p.Pro760Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003642656]	uncertain significance	10	12113024	12113024	Human	1	name
402480680	CV3061376	single nucleotide variant	NM_018706.7(DHTKD1):c.2296C>G (p.Pro766Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV003642693]	uncertain significance	10	12113041	12113041	Human	1	name
402480934	CV3061607	single nucleotide variant	NM_018706.7(DHTKD1):c.1710C>A (p.Asp570Glu)	2-aminoadipic 2-oxoadipic aciduria [RCV003642722]	uncertain significance	10	12100216	12100216	Human	1	name
402480258	CV3067174	single nucleotide variant	NM_018706.7(DHTKD1):c.1512C>A (p.Asn504Lys)	2-aminoadipic 2-oxoadipic aciduria [RCV003642641]	uncertain significance	10	12097837	12097837	Human	1	name
402487582	CV3072684	single nucleotide variant	NM_018706.7(DHTKD1):c.2378G>A (p.Gly793Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV003643490]\|Inborn genetic diseases [RCV005325818]	uncertain significance	10	12117731	12117731	Human	2	name
402486520	CV3073654	single nucleotide variant	NM_018706.7(DHTKD1):c.2095C>G (p.His699Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV003643368]	uncertain significance	10	12107956	12107956	Human	1	name
402487039	CV3077088	single nucleotide variant	NM_018706.7(DHTKD1):c.2668G>T (p.Val890Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV003643429]	uncertain significance	10	12120796	12120796	Human	1	name
402486434	CV3079247	single nucleotide variant	NM_018706.7(DHTKD1):c.2713G>C (p.Val905Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV003643359]	uncertain significance	10	12120841	12120841	Human	1	name
402486754	CV3079724	single nucleotide variant	NM_018706.7(DHTKD1):c.1950G>A (p.Met650Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV003643395]	uncertain significance	10	12106299	12106299	Human	1	name
405050749	CV3081590	single nucleotide variant	NM_018706.7(DHTKD1):c.2612C>T (p.Pro871Leu)	not provided [RCV003740573]	uncertain significance	10	12120221	12120221	Human		name
405051450	CV3081701	single nucleotide variant	NM_018706.7(DHTKD1):c.2374A>G (p.Ile792Val)	not provided [RCV003740645]	uncertain significance	10	12117727	12117727	Human		name
405093616	CV3118837	single nucleotide variant	NM_018706.7(DHTKD1):c.1938T>A (p.Phe646Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV003811288]	uncertain significance	10	12106287	12106287	Human	1	name
404996000	CV3129244	single nucleotide variant	NM_018706.7(DHTKD1):c.1249C>T (p.Arg417Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV003827633]	uncertain significance	10	12094162	12094162	Human	1	name
405025290	CV3133048	single nucleotide variant	NM_018706.7(DHTKD1):c.2116C>T (p.Pro706Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV003830195]\|Inborn genetic diseases [RCV004981069]	uncertain significance	10	12107977	12107977	Human	2	name
405213011	CV3142744	single nucleotide variant	NM_018706.7(DHTKD1):c.1793G>A (p.Arg598His)	2-aminoadipic 2-oxoadipic aciduria [RCV003846101]	uncertain significance	10	12101078	12101078	Human	1	name
405203240	CV3143949	single nucleotide variant	NM_018706.7(DHTKD1):c.2632A>G (p.Arg878Gly)	2-aminoadipic 2-oxoadipic aciduria [RCV003844739]	uncertain significance	10	12120241	12120241	Human	1	name
405190103	CV3149624	single nucleotide variant	NM_018706.7(DHTKD1):c.2717A>G (p.His906Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003843350]	uncertain significance	10	12120845	12120845	Human	1	name
405147244	CV3152089	single nucleotide variant	NM_018706.7(DHTKD1):c.2575C>T (p.His859Tyr)	2-aminoadipic 2-oxoadipic aciduria [RCV003856060]	uncertain significance	10	12120184	12120184	Human	1	name
405192000	CV3157074	single nucleotide variant	NM_018706.7(DHTKD1):c.1819A>G (p.Ile607Val)	2-aminoadipic 2-oxoadipic aciduria [RCV003859762]	uncertain significance	10	12101104	12101104	Human	1	name
405130055	CV3163397	single nucleotide variant	NM_018706.7(DHTKD1):c.2140G>C (p.Glu714Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV003854578]	uncertain significance	10	12108001	12108001	Human	1	name
405131484	CV3163719	single nucleotide variant	NM_018706.7(DHTKD1):c.1580C>T (p.Pro527Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV003854707]	uncertain significance	10	12097905	12097905	Human	1	name
405133420	CV3163892	single nucleotide variant	NM_018706.7(DHTKD1):c.1790G>A (p.Gly597Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV003854880]	uncertain significance	10	12101075	12101075	Human	1	name
405081477	CV3166854	single nucleotide variant	NM_018706.7(DHTKD1):c.2032A>G (p.Thr678Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV003851628]	uncertain significance	10	12106381	12106381	Human	1	name
402515549	CV3178900	single nucleotide variant	NM_018706.7(DHTKD1):c.1537G>C (p.Ala513Pro)	2-aminoadipic 2-oxoadipic aciduria [RCV003879333]	uncertain significance	10	12097862	12097862	Human	1	name
402506240	CV3181642	single nucleotide variant	NM_018706.7(DHTKD1):c.1542G>T (p.Gln514His)	2-aminoadipic 2-oxoadipic aciduria [RCV003878476]	uncertain significance	10	12097867	12097867	Human	1	name
404984346	CV3183635	single nucleotide variant	NM_018706.7(DHTKD1):c.1744T>G (p.Leu582Val)	2-aminoadipic 2-oxoadipic aciduria [RCV003880912]\|Inborn genetic diseases [RCV004981128]	uncertain significance	10	12100250	12100250	Human	2	name
405260136	CV3186572	single nucleotide variant	NM_018706.7(DHTKD1):c.1610A>G (p.Lys537Arg)	not provided [RCV003884331]	uncertain significance	10	12097935	12097935	Human		name
405707054	CV3225258	single nucleotide variant	NM_018706.7(DHTKD1):c.2144G>A (p.Arg715His)	2-aminoadipic 2-oxoadipic aciduria [RCV005103170]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV003990312]	likely pathogenic\|uncertain significance	10	12108005	12108005	Human	2	name
405691929	CV3247096	single nucleotide variant	NM_018706.7(DHTKD1):c.1340T>C (p.Ile447Thr)	Inborn genetic diseases [RCV004373475]	uncertain significance	10	12094253	12094253	Human	1	name
405691939	CV3247098	single nucleotide variant	NM_018706.7(DHTKD1):c.1838C>T (p.Thr613Met)	Inborn genetic diseases [RCV004373477]	uncertain significance	10	12101123	12101123	Human	1	name
405691945	CV3247099	single nucleotide variant	NM_018706.7(DHTKD1):c.2040C>G (p.Ile680Met)	Inborn genetic diseases [RCV004373478]	uncertain significance	10	12106389	12106389	Human	1	name
407428950	CV3413337	single nucleotide variant	NM_018706.7(DHTKD1):c.1042C>G (p.Leu348Val)	2-aminoadipic 2-oxoadipic aciduria [RCV004594743]	uncertain significance	10	12091567	12091567	Human	1	name
407467201	CV3434092	single nucleotide variant	NM_018706.7(DHTKD1):c.2501G>A (p.Arg834Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV005059632]\|Inborn genetic diseases [RCV004614153]	uncertain significance	10	12118847	12118847	Human	2	name
407467212	CV3434095	single nucleotide variant	NM_018706.7(DHTKD1):c.2269T>G (p.Phe757Val)	Inborn genetic diseases [RCV004614156]	uncertain significance	10	12113014	12113014	Human	1	name
407467215	CV3434096	single nucleotide variant	NM_018706.7(DHTKD1):c.1195G>A (p.Gly399Arg)	Inborn genetic diseases [RCV004614157]	uncertain significance	10	12094108	12094108	Human	1	name
407467217	CV3434097	single nucleotide variant	NM_018706.7(DHTKD1):c.2576A>G (p.His859Arg)	Inborn genetic diseases [RCV004614158]	uncertain significance	10	12120185	12120185	Human	1	name
408377341	CV3508672	single nucleotide variant	NM_018706.7(DHTKD1):c.1846A>T (p.Thr616Ser)	DHTKD1-related disorder [RCV004750689]	uncertain significance	10	12101131	12101131	Human		name , trait , alternate_id
596943130	CV3542795	single nucleotide variant	NM_018706.7(DHTKD1):c.1484T>C (p.Met495Thr)	not provided [RCV004798379]	uncertain significance	10	12097809	12097809	Human		name
12742918	CV361490	single nucleotide variant	NM_018706.7(DHTKD1):c.1079T>C (p.Val360Ala)	2-aminoadipic 2-oxoadipic aciduria [RCV001085877]\|DHTKD1-related disorder [RCV003970097]\|not provided [RCV000415736]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	12091604	12091604	Human	1	name , trait , alternate_id
597657921	CV3652254	single nucleotide variant	NM_018706.7(DHTKD1):c.1154A>G (p.Asp385Gly)	Inborn genetic diseases [RCV004976811]	uncertain significance	10	12091679	12091679	Human	1	name
597657928	CV3652255	single nucleotide variant	NM_018706.7(DHTKD1):c.1406G>A (p.Gly469Asp)	Inborn genetic diseases [RCV004976812]	uncertain significance	10	12097731	12097731	Human	1	name
597657933	CV3652256	single nucleotide variant	NM_018706.7(DHTKD1):c.1342A>G (p.Met448Val)	Inborn genetic diseases [RCV004976813]	uncertain significance	10	12094255	12094255	Human	1	name
597657938	CV3652257	single nucleotide variant	NM_018706.7(DHTKD1):c.1267G>T (p.Val423Leu)	Inborn genetic diseases [RCV004976814]	uncertain significance	10	12094180	12094180	Human	1	name
597657942	CV3652259	single nucleotide variant	NM_018706.7(DHTKD1):c.2090T>G (p.Leu697Arg)	Inborn genetic diseases [RCV004976815]	uncertain significance	10	12107951	12107951	Human	1	name
597657947	CV3652260	single nucleotide variant	NM_018706.7(DHTKD1):c.1051C>T (p.Leu351Phe)	Inborn genetic diseases [RCV004976816]	uncertain significance	10	12091576	12091576	Human	1	name
597852775	CV3737676	single nucleotide variant	NM_018706.7(DHTKD1):c.1187A>G (p.His396Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV005066449]\|not provided [RCV005230832]	uncertain significance	10	12094100	12094100	Human	1	name
597926714	CV3748935	single nucleotide variant	NM_018706.7(DHTKD1):c.2276A>G (p.Lys759Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV005075391]	uncertain significance	10	12113021	12113021	Human	1	name
597970819	CV3750229	single nucleotide variant	NM_018706.7(DHTKD1):c.1226C>T (p.Thr409Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV005084170]	uncertain significance	10	12094139	12094139	Human	1	name
597832397	CV3751365	single nucleotide variant	NM_018706.7(DHTKD1):c.2162A>G (p.Asp721Gly)	2-aminoadipic 2-oxoadipic aciduria [RCV005084911]	uncertain significance	10	12112907	12112907	Human	1	name
597966413	CV3751571	single nucleotide variant	NM_018706.7(DHTKD1):c.1648C>T (p.His550Tyr)	2-aminoadipic 2-oxoadipic aciduria [RCV005082941]	uncertain significance	10	12097973	12097973	Human	1	name
597967162	CV3751765	single nucleotide variant	NM_018706.7(DHTKD1):c.2164A>G (p.Ser722Gly)	2-aminoadipic 2-oxoadipic aciduria [RCV005083135]	uncertain significance	10	12112909	12112909	Human	1	name
597961216	CV3753196	single nucleotide variant	NM_018706.7(DHTKD1):c.1076G>T (p.Ser359Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV005081696]	uncertain significance	10	12091601	12091601	Human	1	name
597957696	CV3755141	single nucleotide variant	NM_018706.7(DHTKD1):c.2440T>G (p.Tyr814Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV005080811]	uncertain significance	10	12118786	12118786	Human	1	name
597838542	CV3758178	single nucleotide variant	NM_018706.7(DHTKD1):c.1101G>C (p.Gln367His)	2-aminoadipic 2-oxoadipic aciduria [RCV005086012]	uncertain significance	10	12091626	12091626	Human	1	name
597889737	CV3762782	single nucleotide variant	NM_018706.7(DHTKD1):c.1295A>G (p.Gln432Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV005110555]	uncertain significance	10	12094208	12094208	Human	1	name
597919162	CV3764945	single nucleotide variant	NM_018706.7(DHTKD1):c.1688T>A (p.Met563Lys)	2-aminoadipic 2-oxoadipic aciduria [RCV005114960]	uncertain significance	10	12100194	12100194	Human	1	name
597881253	CV3783151	single nucleotide variant	NM_018706.7(DHTKD1):c.2729A>G (p.His910Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV005123853]	uncertain significance	10	12120857	12120857	Human	1	name
597891023	CV3784931	single nucleotide variant	NM_018706.7(DHTKD1):c.2345T>C (p.Met782Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV005125710]	uncertain significance	10	12117698	12117698	Human	1	name
597929595	CV3789206	single nucleotide variant	NM_018706.7(DHTKD1):c.1591C>A (p.Leu531Met)	2-aminoadipic 2-oxoadipic aciduria [RCV005131487]	uncertain significance	10	12097916	12097916	Human	1	name
597963417	CV3791942	single nucleotide variant	NM_018706.7(DHTKD1):c.2061G>C (p.Trp687Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV005139498]	uncertain significance	10	12107922	12107922	Human	1	name
597955140	CV3795840	single nucleotide variant	NM_018706.7(DHTKD1):c.1293G>C (p.Arg431Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV005136850]	uncertain significance	10	12094206	12094206	Human	1	name
597955101	CV3795852	single nucleotide variant	NM_018706.7(DHTKD1):c.1680G>A (p.Met560Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV005136862]	uncertain significance	10	12100186	12100186	Human	1	name
597951355	CV3798273	single nucleotide variant	NM_018706.7(DHTKD1):c.1201A>G (p.Ser401Gly)	2-aminoadipic 2-oxoadipic aciduria [RCV005136053]	uncertain significance	10	12094114	12094114	Human	1	name
597975017	CV3798681	single nucleotide variant	NM_018706.7(DHTKD1):c.1916C>T (p.Ser639Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV005144269]	uncertain significance	10	12106265	12106265	Human	1	name
597975559	CV3799216	single nucleotide variant	NM_018706.7(DHTKD1):c.1523A>G (p.His508Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV005144612]	uncertain significance	10	12097848	12097848	Human	1	name
597853550	CV3805815	single nucleotide variant	NM_018706.7(DHTKD1):c.1031A>G (p.Glu344Gly)	2-aminoadipic 2-oxoadipic aciduria [RCV005145745]	uncertain significance	10	12091556	12091556	Human	1	name
597908622	CV3806365	single nucleotide variant	NM_018706.7(DHTKD1):c.1129G>A (p.Gly377Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV005153932]	uncertain significance	10	12091654	12091654	Human	1	name
597858854	CV3817080	single nucleotide variant	NM_018706.7(DHTKD1):c.1049A>G (p.Asn350Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV005146461]	uncertain significance	10	12091574	12091574	Human	1	name
597856234	CV3822112	single nucleotide variant	NM_018706.7(DHTKD1):c.1543C>T (p.Pro515Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV005174410]	uncertain significance	10	12097868	12097868	Human	1	name
597972494	CV3823365	single nucleotide variant	NM_018706.7(DHTKD1):c.1301G>A (p.Gly434Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV005167461]	uncertain significance	10	12094214	12094214	Human	1	name
597966338	CV3823756	single nucleotide variant	NM_018706.7(DHTKD1):c.1760T>C (p.Phe587Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV005165176]	uncertain significance	10	12101045	12101045	Human	1	name
597853709	CV3825210	single nucleotide variant	NM_018706.7(DHTKD1):c.1595G>A (p.Arg532Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV005174058]	uncertain significance	10	12097920	12097920	Human	1	name
597833689	CV3827673	single nucleotide variant	NM_018706.7(DHTKD1):c.1409G>T (p.Gly470Val)	2-aminoadipic 2-oxoadipic aciduria [RCV005170763]	uncertain significance	10	12097734	12097734	Human	1	name
597964351	CV3830454	single nucleotide variant	NM_018706.7(DHTKD1):c.2176G>A (p.Gly726Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV005164594]	uncertain significance	10	12112921	12112921	Human	1	name
597865824	CV3834372	single nucleotide variant	NM_018706.7(DHTKD1):c.2137A>T (p.Ile713Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV005175739]	uncertain significance	10	12107998	12107998	Human	1	name
597867340	CV3838682	single nucleotide variant	NM_018706.7(DHTKD1):c.1688T>C (p.Met563Thr)	2-aminoadipic 2-oxoadipic aciduria [RCV005175978]	uncertain significance	10	12100194	12100194	Human	1	name
597870267	CV3839374	single nucleotide variant	NM_018706.7(DHTKD1):c.2005T>C (p.Phe669Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV005176485]	uncertain significance	10	12106354	12106354	Human	1	name
597901725	CV3845483	single nucleotide variant	NM_018706.7(DHTKD1):c.2228C>A (p.Ala743Glu)	2-aminoadipic 2-oxoadipic aciduria [RCV005181293]	uncertain significance	10	12112973	12112973	Human	1	name
597944516	CV3847899	single nucleotide variant	NM_018706.7(DHTKD1):c.1999G>T (p.Asp667Tyr)	2-aminoadipic 2-oxoadipic aciduria [RCV005188628]	uncertain significance	10	12106348	12106348	Human	1	name
598162200	CV3953087	single nucleotide variant	NM_018706.7(DHTKD1):c.2436T>G (p.His812Gln)	Inborn genetic diseases [RCV005329122]	uncertain significance	10	12118782	12118782	Human	1	name
598162215	CV3953090	single nucleotide variant	NM_018706.7(DHTKD1):c.1046C>T (p.Ser349Phe)	Inborn genetic diseases [RCV005329125]	uncertain significance	10	12091571	12091571	Human	1	name
598162228	CV3953093	single nucleotide variant	NM_018706.7(DHTKD1):c.1464G>C (p.Leu488Phe)	Inborn genetic diseases [RCV005329128]	uncertain significance	10	12097789	12097789	Human	1	name
616933033	CV4012696	single nucleotide variant	NM_018706.7(DHTKD1):c.1994T>C (p.Phe665Ser)	Charcot-Marie-Tooth disease axonal type 2Q [RCV005410156]	uncertain significance	10	12106343	12106343	Human	1	name
12898937	CV407825	single nucleotide variant	NM_018706.7(DHTKD1):c.2318C>T (p.Pro773Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV001851185]\|not provided [RCV000479039]\|not specified [RCV003317237]	uncertain significance	10	12113063	12113063	Human	1	name
13436048	CV433485	single nucleotide variant	NM_018706.7(DHTKD1):c.2239C>T (p.His747Tyr)	2-aminoadipic 2-oxoadipic aciduria [RCV003528181]\|Inborn genetic diseases [RCV004023429]\|not specified [RCV000506476]	uncertain significance	10	12112984	12112984	Human	2	name
13462374	CV439114	single nucleotide variant	NM_018706.7(DHTKD1):c.1550C>T (p.Ala517Val)	2-aminoadipic 2-oxoadipic aciduria [RCV001084582]\|DHTKD1-related disorder [RCV003935352]\|not provided [RCV000514039]	benign\|likely benign	10	12097875	12097875	Human	1	name , trait , alternate_id
13488200	CV446857	single nucleotide variant	NM_018706.7(DHTKD1):c.2744C>T (p.Ala915Val)	Charcot-Marie-Tooth disease axonal type 2Q [RCV000523490]	uncertain significance	10	12120872	12120872	Human	1	name
8570508	CV48163	single nucleotide variant	NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV000032764]\|Charcot-Marie-Tooth disease type 2A2 [RCV003447099]\|DHTKD1-related disorder [RCV004748541]\|Inborn disorder of lysine and hydroxylysine metabolism [RCV004017273]\|Inborn genetic diseases [RCV002513307]\|Tip-toe gait ... (more) [RCV003319173]\|not provided [RCV000238689]\|not specified [RCV000791040]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	10	12112930	12112930	Human	5	name , trait , alternate_id
8570509	CV48164	single nucleotide variant	NM_018706.7(DHTKD1):c.1228C>T (p.Arg410Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV000032765]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV005229839]\|Charcot-Marie-Tooth disease type 2A2 [RCV003447100]	pathogenic\|uncertain significance	10	12094141	12094141	Human	3	name
8570510	CV48165	single nucleotide variant	NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)	Charcot-Marie-Tooth disease axonal type 2Q [RCV000032766]\|Charcot-Marie-Tooth disease type 2A2 [RCV003447101]	pathogenic\|likely pathogenic\|uncertain significance	10	12097780	12097780	Human	2	name
13611117	CV514604	single nucleotide variant	NM_018706.7(DHTKD1):c.1386T>G (p.Tyr462Ter)	not provided [RCV000627310]	likely pathogenic	10	12097711	12097711	Human		name
13705990	CV537127	single nucleotide variant	NM_018706.7(DHTKD1):c.1246C>T (p.Gln416Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV001861702]\|not provided [RCV000658560]	pathogenic\|uncertain significance	10	12094159	12094159	Human	1	name
13704841	CV539027	single nucleotide variant	NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys)	2-aminoadipic 2-oxoadipic aciduria [RCV000662100]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV000662099]\|Inborn genetic diseases [RCV003163049]	uncertain significance	10	12101077	12101077	Human	3	name
13812317	CV563593	single nucleotide variant	NM_018706.7(DHTKD1):c.1223C>T (p.Ala408Val)	2-aminoadipic 2-oxoadipic aciduria [RCV000703626]	uncertain significance	10	12094136	12094136	Human	1	name
13822031	CV563597	single nucleotide variant	NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV000696727]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV005253075]\|Inborn genetic diseases [RCV002534332]\|not provided [RCV001508294]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	10	12094222	12094222	Human	3	name
13818240	CV569541	single nucleotide variant	NM_018706.7(DHTKD1):c.2134C>T (p.Arg712Ter)	2-aminoadipic 2-oxoadipic aciduria [RCV000693577]\|not provided [RCV003140099]	pathogenic	10	12107995	12107995	Human	1	name
13820756	CV576135	single nucleotide variant	NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV000709811]\|2-aminoadipic 2-oxoadipic aciduria [RCV001331064]\|Inborn genetic diseases [RCV002532896]	uncertain significance\|not provided	10	12120875	12120875	Human	2	name
14351800	CV608957	single nucleotide variant	NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr)	Charcot-Marie-Tooth disease axonal type 2Q [RCV000754752]	likely pathogenic	10	12097868	12097868	Human	1	name
14394109	CV609740	single nucleotide variant	NM_018706.7(DHTKD1):c.1048A>G (p.Asn350Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV001082706]\|DHTKD1-related disorder [RCV003938140]\|not provided [RCV001811473]	benign\|likely benign	10	12091573	12091573	Human	1	name , trait , alternate_id
14394108	CV609741	single nucleotide variant	NM_018706.7(DHTKD1):c.1408G>A (p.Gly470Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV001855889]\|Inborn genetic diseases [RCV002536565]\|not provided [RCV000757152]	uncertain significance	10	12097733	12097733	Human	2	name
14702489	CV626196	single nucleotide variant	NM_018706.7(DHTKD1):c.1573G>A (p.Gly525Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV000790954]	uncertain significance	10	12097898	12097898	Human	1	name
14978103	CV677232	single nucleotide variant	NM_018706.7(DHTKD1):c.2288T>C (p.Val763Ala)	Distal amyotrophy [RCV000850297]	uncertain significance	10	12113033	12113033	Human	1	name
15108358	CV712197	single nucleotide variant	NM_018706.7(DHTKD1):c.1641G>A (p.Met547Ile)	2-aminoadipic 2-oxoadipic aciduria [RCV000960472]\|DHTKD1-related disorder [RCV003978358]\|Inborn genetic diseases [RCV004973206]\|not provided [RCV005427448]	benign\|likely benign	10	12097966	12097966	Human	2	name , trait , alternate_id
15149032	CV712198	single nucleotide variant	NM_018706.7(DHTKD1):c.1832A>G (p.Gln611Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV000967673]\|Inborn genetic diseases [RCV004029930]\|not specified [RCV002249589]	benign\|likely benign	10	12101117	12101117	Human	2	name
15151503	CV712199	single nucleotide variant	NM_018706.7(DHTKD1):c.2121C>A (p.Asp707Glu)	2-aminoadipic 2-oxoadipic aciduria [RCV000968152]\|2-aminoadipic 2-oxoadipic aciduria [RCV002505466]\|not provided [RCV004718798]	benign\|likely benign	10	12107982	12107982	Human	1	name
15189487	CV723808	single nucleotide variant	NM_018706.7(DHTKD1):c.1078G>A (p.Val360Met)	2-aminoadipic 2-oxoadipic aciduria [RCV000887834]\|not provided [RCV003327472]	likely benign\|uncertain significance	10	12091603	12091603	Human	1	name
15185646	CV723814	single nucleotide variant	NM_018706.7(DHTKD1):c.2722C>A (p.His908Asn)	2-aminoadipic 2-oxoadipic aciduria [RCV002065512]\|DHTKD1-related disorder [RCV003975584]\|not provided [RCV004705874]	likely benign	10	12120850	12120850	Human	1	name , trait , alternate_id
15126662	CV752000	single nucleotide variant	NM_018706.7(DHTKD1):c.1262A>G (p.Lys421Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV001858579]\|DHTKD1-related disorder [RCV003942826]	likely benign	10	12094175	12094175	Human	1	name , trait , alternate_id
21405454	CV799599	single nucleotide variant	NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln)	2-aminoadipic 2-oxoadipic aciduria [RCV001869419]\|Inborn genetic diseases [RCV002549135]\|Tip-toe gait [RCV001353115]\|not provided [RCV004822282]\|not specified [RCV001000516]	uncertain significance	10	12097689	12097689	Human	3	name
21405608	CV799600	single nucleotide variant	NM_018706.7(DHTKD1):c.2234A>G (p.Tyr745Cys)	not specified [RCV001000854]	uncertain significance	10	12112979	12112979	Human		name
26897732	CV836679	single nucleotide variant	NM_018706.7(DHTKD1):c.1093A>T (p.Asn365Tyr)	2-aminoadipic 2-oxoadipic aciduria [RCV001048673]	uncertain significance	10	12091618	12091618	Human	1	name
26902156	CV836680	single nucleotide variant	NM_018706.7(DHTKD1):c.2008A>G (p.Asn670Asp)	2-aminoadipic 2-oxoadipic aciduria [RCV001071796]\|Inborn genetic diseases [RCV005328530]\|not provided [RCV002274135]	uncertain significance	10	12106357	12106357	Human	2	name
26916994	CV836681	single nucleotide variant	NM_018706.7(DHTKD1):c.2326G>T (p.Val776Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV001042358]	uncertain significance	10	12117679	12117679	Human	1	name
26884495	CV836682	single nucleotide variant	NM_018706.7(DHTKD1):c.2662C>A (p.Arg888Ser)	2-aminoadipic 2-oxoadipic aciduria [RCV001064904]\|Inborn genetic diseases [RCV004030563]\|not provided [RCV002274131]	uncertain significance	10	12120790	12120790	Human	2	name
38465602	CV961783	single nucleotide variant	NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu)	2-aminoadipic 2-oxoadipic aciduria [RCV001250095]\|Charcot-Marie-Tooth disease axonal type 2Q [RCV003989657]\|not specified [RCV003994245]	likely pathogenic\|uncertain significance	10	12091643	12091643	Human	2	name
38465522	CV961784	single nucleotide variant	NM_018706.7(DHTKD1):c.2740C>G (p.Leu914Val)	2-aminoadipic 2-oxoadipic aciduria [RCV001250070]	uncertain significance	10	12120868	12120868	Human	1	name
150499352	CV1270807	insertion	NM_018706.7(DHTKD1):c.2402+108_2402+109insAT	not provided [RCV001689357]	benign	10	12117862	12117863	Human		name
151767580	CV1393991	microsatellite	NM_018706.7(DHTKD1):c.2356ACA[1] (p.Thr787del)	2-aminoadipic 2-oxoadipic aciduria [RCV002008533]	uncertain significance	10	12117708	12117710	Human		name
597971954	CV3794069	microsatellite	NM_018706.7(DHTKD1):c.1270ATT[1] (p.Ile425del)	2-aminoadipic 2-oxoadipic aciduria [RCV005142435]	uncertain significance	10	12094183	12094185	Human		name
150540378	CV1314503	deletion	NM_018706.7(DHTKD1):c.2396_2397del (p.Pro799fs)	DHTKD1-related disorder [RCV003401712]\|not provided [RCV001780933]	likely pathogenic	10	12117749	12117750	Human	1	name , trait , alternate_id
151778307	CV1380040	microsatellite	NM_018706.7(DHTKD1):c.2461_2462del (p.Glu821fs)	2-aminoadipic 2-oxoadipic aciduria [RCV001950822]	pathogenic	10	12118804	12118805	Human		name
405027492	CV2880394	microsatellite	NM_018706.7(DHTKD1):c.1806_1809del (p.Ser602fs)	2-aminoadipic 2-oxoadipic aciduria [RCV003529109]	pathogenic	10	12101087	12101090	Human		name
407508632	CV3496387	deletion	NM_018706.7(DHTKD1):c.2282_2295del (p.Leu761fs)	not provided [RCV004698228]	pathogenic	10	12113026	12113039	Human		name
14725851	CV638759	deletion	NM_018706.7(DHTKD1):c.2457_2458del (p.Glu821fs)	2-aminoadipic 2-oxoadipic aciduria [RCV000798985]\|2-aminoadipic 2-oxoadipic aciduria [RCV002507381]	pathogenic\|likely pathogenic	10	12118802	12118803	Human	1	name
151747838	CV1345449	deletion	NM_018706.7(DHTKD1):c.2284_2286del (p.Ile762del)	2-aminoadipic 2-oxoadipic aciduria [RCV001893994]	uncertain significance	10	12113029	12113031	Human	1	name
151755283	CV1387729	inversion	NM_018706.7(DHTKD1):c.1938_1939inv (p.Glu647Lys)	2-aminoadipic 2-oxoadipic aciduria [RCV001969606]	uncertain significance	10	12106287	12106288	Human		name
405016667	CV2911415	microsatellite	NM_018706.7(DHTKD1):c.1756+21_1756+22insGTGTTTTTT	2-aminoadipic 2-oxoadipic aciduria [RCV003527799]	likely benign	10	12100277	12100278	Human		name
402494602	CV3012672	microsatellite	NM_018706.7(DHTKD1):c.1756+20_1756+21insCTGTTTTTTT	2-aminoadipic 2-oxoadipic aciduria [RCV003644219]	likely benign	10	12100275	12100276	Human		name
151817789	CV1427489	indel	NM_018706.7(DHTKD1):c.700_701delinsGG (p.Leu234Gly)	2-aminoadipic 2-oxoadipic aciduria [RCV001878919]\|Inborn genetic diseases [RCV002551118]\|not provided [RCV003481153]	uncertain significance	10	12087712	12087713	Human		name
152133441	CV1607402	microsatellite	NM_018706.7(DHTKD1):c.1756+21_1756+22insCTGTTTTTTTTT	2-aminoadipic 2-oxoadipic aciduria [RCV002119377]	likely benign	10	12100274	12100275	Human		name
151849033	CV1346216	indel	NM_018706.7(DHTKD1):c.1910_1911delinsGC (p.Pro637Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV001978679]	uncertain significance	10	12106259	12106260	Human		name
156223803	CV2064176	indel	NM_018706.7(DHTKD1):c.1911_1912delinsCA (p.Leu638Met)	2-aminoadipic 2-oxoadipic aciduria [RCV002829790]	uncertain significance	10	12106260	12106261	Human		name
405021180	CV2864249	indel	NM_018706.7(DHTKD1):c.2079_2080delinsTT (p.Val694Phe)	2-aminoadipic 2-oxoadipic aciduria [RCV003528506]	uncertain significance	10	12107940	12107941	Human		name
405015455	CV2916918	insertion	NM_018706.7(DHTKD1):c.1756+13_1756+14insATTTTTTTTCTGT	2-aminoadipic 2-oxoadipic aciduria [RCV003527688]	likely benign	10	12100274	12100275	Human	1	name
402485277	CV2942363	indel	NM_018706.7(DHTKD1):c.1987_1988delinsAG (p.Ala663Arg)	2-aminoadipic 2-oxoadipic aciduria [RCV003643217]	uncertain significance	10	12106336	12106337	Human		name
152087661	CV1625962	microsatellite	NM_018706.7(DHTKD1):c.1756+22_1756+23insTCTGTTTTTTTTTT	2-aminoadipic 2-oxoadipic aciduria [RCV002131641]	likely benign	10	12100274	12100275	Human		name
156013076	CV1986098	deletion	NM_018706.7(DHTKD1):c.199_203del (p.His66_Gly67insTer)	2-aminoadipic 2-oxoadipic aciduria [RCV002636324]	pathogenic	10	12081516	12081520	Human	1	name
404979349	CV3183190	microsatellite	NM_018706.7(DHTKD1):c.1756+22_1756+23insTCTGTTTTTTTTTTT	2-aminoadipic 2-oxoadipic aciduria [RCV003880213]	likely benign	10	12100274	12100275	Human		name
38486289	CV925759	deletion	NM_018706.7(DHTKD1):c.2252_2266del (p.Arg751_Arg755del)	2-aminoadipic 2-oxoadipic aciduria [RCV001220229]	uncertain significance	10	12112994	12113008	Human	1	name
402491586	CV2982890	microsatellite	NM_018706.7(DHTKD1):c.1756+21_1756+22insGGGTTTTTTTTTTTTTTTT	2-aminoadipic 2-oxoadipic aciduria [RCV003643890]	likely benign	10	12100274	12100275	Human		name
402489252	CV2965337	microsatellite	NM_018706.7(DHTKD1):c.1756+22_1756+23insGGTGTTTTTTTTTTTTTTTTT	2-aminoadipic 2-oxoadipic aciduria [RCV003643651]	likely benign	10	12100274	12100275	Human		name
156133814	CV2085696	insertion	NM_018706.7(DHTKD1):c.1756+7_1756+8insATTTGTTTTTTTTTTTAGGTTTTTT	2-aminoadipic 2-oxoadipic aciduria [RCV002871732]	likely benign	10	12100269	12100270	Human	1	name
156313409	CV2063581	insertion	NM_018706.7(DHTKD1):c.1756+14_1756+15insGTTTTTTTGTGTTTTTTTTTTTTTT	2-aminoadipic 2-oxoadipic aciduria [RCV002834255]	likely benign	10	12100274	12100275	Human	1	name

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