Dhdds Variant Search Result - Rat Genome Database

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574 records found for search term Dhdds

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11583162	CV280702	single nucleotide variant	NM_205861.3(DHDDS):c.-53T>G	Retinitis pigmentosa [RCV000264584]	uncertain significance	1	26432893	26432893	Human	2	name
11657898	CV282130	single nucleotide variant	NM_205861.3(DHDDS):c.*55C>T	Retinitis pigmentosa [RCV000344823]	uncertain significance	1	26469186	26469186	Human	2	name
28878380	CV864264	single nucleotide variant	NM_205861.3(DHDDS):c.-37G>A	Retinitis pigmentosa [RCV001095892]	uncertain significance	1	26432909	26432909	Human	2	name
127264184	CV1088959	single nucleotide variant	NM_205861.3(DHDDS):c.64-7T>C	DHDDS-related disorder [RCV003965851]\|Retinitis pigmentosa 59 [RCV001439570]	likely benign	1	26438161	26438161	Human	1	name , trait , alternate_id
127293530	CV1131330	single nucleotide variant	NM_205861.3(DHDDS):c.64-9A>C	Retinitis pigmentosa 59 [RCV001496806]	likely benign	1	26438159	26438159	Human	1	name
156273238	CV2187530	single nucleotide variant	NM_205861.3(DHDDS):c.63+9T>C	Retinitis pigmentosa 59 [RCV003044527]	likely benign	1	26433017	26433017	Human	1	name
156286482	CV2192048	single nucleotide variant	NM_205861.3(DHDDS):c.64-3C>T	Retinitis pigmentosa 59 [RCV003044964]	uncertain significance	1	26438165	26438165	Human	1	name
11583987	CV280323	single nucleotide variant	NM_024887.3(DHDDS):c.-150G>A	Retinitis pigmentosa [RCV000270561]\|not provided [RCV004713665]	benign\|likely benign	1	26432282	26432282	Human	2	name
11594647	CV280331	single nucleotide variant	NM_024887.3(DHDDS):c.-119G>A	Retinitis pigmentosa [RCV000361588]	likely benign\|uncertain significance	1	26432313	26432313	Human	2	name
11664166	CV280334	single nucleotide variant	NM_205861.3(DHDDS):c.*312C>T	Retinitis pigmentosa [RCV000403030]	uncertain significance	1	26469443	26469443	Human	2	name
11594609	CV280335	single nucleotide variant	NM_205861.3(DHDDS):c.*480A>G	Retinitis pigmentosa [RCV000360929]	uncertain significance	1	26469611	26469611	Human	2	name
11582663	CV280338	single nucleotide variant	NM_205861.3(DHDDS):c.*515G>T	Retinitis pigmentosa [RCV000261270]	uncertain significance	1	26469646	26469646	Human	2	name
11651264	CV280344	single nucleotide variant	NM_205861.3(DHDDS):c.*620C>T	Retinitis pigmentosa [RCV000297779]	uncertain significance	1	26469751	26469751	Human	2	name
11598460	CV280704	single nucleotide variant	NM_205861.3(DHDDS):c.*128C>G	Retinitis pigmentosa [RCV000406054]\|not provided [RCV003221893]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	26469259	26469259	Human	2	name
11653265	CV280706	single nucleotide variant	NM_205861.3(DHDDS):c.*174G>T	Retinitis pigmentosa [RCV000309775]	uncertain significance	1	26469305	26469305	Human	2	name
11594241	CV280708	single nucleotide variant	NM_205861.3(DHDDS):c.*629C>T	Retinitis pigmentosa [RCV000357366]\|not provided [RCV004710785]	likely benign\|uncertain significance	1	26469760	26469760	Human	2	name
11591704	CV280715	single nucleotide variant	NM_205861.3(DHDDS):c.*737C>A	Retinitis pigmentosa [RCV000331436]	uncertain significance	1	26469868	26469868	Human	2	name
11596748	CV280716	single nucleotide variant	NM_205861.3(DHDDS):c.*769G>T	Retinitis pigmentosa [RCV000385945]	uncertain significance	1	26469900	26469900	Human	2	name
11656340	CV280717	single nucleotide variant	NM_205861.3(DHDDS):c.*986T>A	Retinitis pigmentosa [RCV000332561]	uncertain significance	1	26470117	26470117	Human	2	name
11588865	CV282030	single nucleotide variant	NM_205861.3(DHDDS):c.*464T>C	Retinitis pigmentosa [RCV000306192]	uncertain significance	1	26469595	26469595	Human	2	name
11647659	CV282031	single nucleotide variant	NM_205861.3(DHDDS):c.*883C>G	Retinitis Pigmentosa, Recessive [RCV000277468]	uncertain significance	1	26470014	26470014	Human	1	name
11655133	CV282119	single nucleotide variant	NM_024887.3(DHDDS):c.-143C>T	Retinitis pigmentosa [RCV000323239]	uncertain significance	1	26432289	26432289	Human	2	name
11657399	CV282148	deletion	NM_205861.3(DHDDS):c.*264del	Retinitis Pigmentosa, Recessive [RCV000341163]	uncertain significance	1	26469393	26469393	Human	1	name
405197306	CV2980239	single nucleotide variant	NM_205861.3(DHDDS):c.64-6C>T	Retinitis pigmentosa 59 [RCV003641672]	likely benign	1	26438162	26438162	Human	1	name
405161718	CV3125136	single nucleotide variant	NM_205861.3(DHDDS):c.63+6C>T	Retinitis pigmentosa 59 [RCV003818407]	uncertain significance	1	26433014	26433014	Human	1	name
597951605	CV3798376	single nucleotide variant	NM_205861.3(DHDDS):c.63+8A>G	Retinitis pigmentosa 59 [RCV005136156]	likely benign	1	26433016	26433016	Human	1	name
28889483	CV864268	single nucleotide variant	NM_205861.3(DHDDS):c.*109C>T	Retinitis pigmentosa [RCV001099450]	uncertain significance	1	26469240	26469240	Human	2	name
28894547	CV864269	single nucleotide variant	NM_205861.3(DHDDS):c.*210C>T	Retinitis pigmentosa [RCV001101446]	uncertain significance	1	26469341	26469341	Human	2	name
28894551	CV864270	single nucleotide variant	NM_205861.3(DHDDS):c.*226C>G	Retinitis pigmentosa [RCV001101447]	uncertain significance	1	26469357	26469357	Human	2	name
28894555	CV864271	single nucleotide variant	NM_205861.3(DHDDS):c.*404C>G	Retinitis pigmentosa [RCV001101448]	uncertain significance	1	26469535	26469535	Human	2	name
28894560	CV864272	single nucleotide variant	NM_205861.3(DHDDS):c.*433T>C	Retinitis pigmentosa [RCV001101449]	uncertain significance	1	26469564	26469564	Human	2	name
28878671	CV864273	single nucleotide variant	NM_205861.3(DHDDS):c.*573C>T	Retinitis pigmentosa [RCV001095983]	uncertain significance	1	26469704	26469704	Human	2	name
28878674	CV864274	single nucleotide variant	NM_205861.3(DHDDS):c.*623G>A	Retinitis pigmentosa [RCV001095984]	likely benign	1	26469754	26469754	Human	2	name
28878676	CV864275	single nucleotide variant	NM_205861.3(DHDDS):c.*634G>A	Retinitis pigmentosa [RCV001095985]	uncertain significance	1	26469765	26469765	Human	2	name
28878680	CV864276	single nucleotide variant	NM_205861.3(DHDDS):c.*733T>C	Retinitis pigmentosa [RCV001095986]	uncertain significance	1	26469864	26469864	Human	2	name
28884307	CV864277	single nucleotide variant	NM_205861.3(DHDDS):c.*988C>T	Retinitis pigmentosa [RCV001097768]	uncertain significance	1	26470119	26470119	Human	2	name
126736206	CV1002727	single nucleotide variant	NM_205861.3(DHDDS):c.324-4T>G	Retinitis pigmentosa 59 [RCV001313825]	likely benign\|uncertain significance	1	26446312	26446312	Human	1	name
127243029	CV1054837	single nucleotide variant	NM_205861.3(DHDDS):c.658-2A>G	Retinitis pigmentosa 59 [RCV001377031]\|Retinitis pigmentosa 59 [RCV002499773]	likely pathogenic	1	26460035	26460035	Human	1	name
127262094	CV1067197	single nucleotide variant	NM_205861.3(DHDDS):c.542+7C>A	Retinitis pigmentosa 59 [RCV001402562]	likely benign	1	26447667	26447667	Human	1	name
127254598	CV1067198	single nucleotide variant	NM_205861.3(DHDDS):c.543-7A>G	Retinitis pigmentosa 59 [RCV001418591]	likely benign	1	26457784	26457784	Human	1	name
127274694	CV1088964	single nucleotide variant	NM_205861.3(DHDDS):c.324-7T>C	Retinitis pigmentosa 59 [RCV001442945]	likely benign	1	26446309	26446309	Human	1	name
127269285	CV1088966	single nucleotide variant	NM_205861.3(DHDDS):c.542+7C>T	Retinitis pigmentosa 59 [RCV001441032]	likely benign	1	26447667	26447667	Human	1	name
127327601	CV1110461	single nucleotide variant	NM_205861.3(DHDDS):c.181-5C>T	Retinitis pigmentosa 59 [RCV001469145]	likely benign	1	26442726	26442726	Human	1	name
127303601	CV1110465	single nucleotide variant	NM_205861.3(DHDDS):c.441-5C>T	Retinitis pigmentosa 59 [RCV001454794]	likely benign	1	26447554	26447554	Human	1	name
127327149	CV1110468	single nucleotide variant	NM_205861.3(DHDDS):c.658-8T>C	Retinitis pigmentosa 59 [RCV001468981]	likely benign	1	26460029	26460029	Human	1	name
127337493	CV1131331	single nucleotide variant	NM_205861.3(DHDDS):c.181-9C>T	Retinitis pigmentosa 59 [RCV001492878]	likely benign	1	26442722	26442722	Human	1	name
127336361	CV1131332	single nucleotide variant	NM_205861.3(DHDDS):c.181-7C>G	Retinitis pigmentosa 59 [RCV001492100]	likely benign	1	26442724	26442724	Human	1	name
127329237	CV1131336	single nucleotide variant	NM_205861.3(DHDDS):c.440+8C>A	Retinitis pigmentosa 59 [RCV001487306]	likely benign	1	26446440	26446440	Human	1	name
150452451	CV1275265	single nucleotide variant	NM_205861.3(DHDDS):c.542+1G>A	Developmental delay and seizures with or without movement abnormalities [RCV001706778]	uncertain significance	1	26447661	26447661	Human	1	name
151810306	CV1393376	single nucleotide variant	NM_205861.3(DHDDS):c.64-12C>A	Retinitis pigmentosa 59 [RCV001953751]	likely benign	1	26438156	26438156	Human	1	name
151846552	CV1434793	single nucleotide variant	NM_205861.3(DHDDS):c.542+6C>G	Retinitis pigmentosa 59 [RCV001922195]	uncertain significance	1	26447666	26447666	Human	1	name
151826684	CV1442976	single nucleotide variant	NM_205861.3(DHDDS):c.765+5G>T	Retinitis pigmentosa 59 [RCV002013905]	uncertain significance	1	26460149	26460149	Human	1	name
151757561	CV1516226	single nucleotide variant	NM_205861.3(DHDDS):c.441-2A>T	Retinitis pigmentosa 59 [RCV002043905]	likely pathogenic	1	26447557	26447557	Human	1	name
152037540	CV1524919	single nucleotide variant	NM_205861.3(DHDDS):c.658-9C>T	Retinitis pigmentosa 59 [RCV002165197]	likely benign	1	26460028	26460028	Human	1	name
152159018	CV1529169	single nucleotide variant	NM_205861.3(DHDDS):c.542+8G>T	Retinitis pigmentosa 59 [RCV002159300]\|not specified [RCV005239302]	likely benign\|uncertain significance	1	26447668	26447668	Human	1	name
152032632	CV1537816	duplication	NM_205861.3(DHDDS):c.766-6dup	Retinitis pigmentosa 59 [RCV002186933]	likely benign	1	26468888	26468889	Human	1	name
152144028	CV1538509	single nucleotide variant	NM_205861.3(DHDDS):c.543-8C>G	Retinitis pigmentosa 59 [RCV002219760]	likely benign	1	26457783	26457783	Human	1	name
152038943	CV1592651	single nucleotide variant	NM_205861.3(DHDDS):c.64-12C>T	Retinitis pigmentosa 59 [RCV002187959]	likely benign	1	26438156	26438156	Human	1	name
152128025	CV1596482	single nucleotide variant	NM_205861.3(DHDDS):c.181-7C>T	Retinitis pigmentosa 59 [RCV002118709]	likely benign	1	26442724	26442724	Human	1	name
152096379	CV1599696	single nucleotide variant	NM_205861.3(DHDDS):c.180+9G>T	Retinitis pigmentosa 59 [RCV002151254]	likely benign	1	26438293	26438293	Human	1	name
152066110	CV1601588	single nucleotide variant	NM_205861.3(DHDDS):c.63+13C>T	Retinitis pigmentosa 59 [RCV002168684]	likely benign	1	26433021	26433021	Human	1	name
152087612	CV1625944	deletion	NM_205861.3(DHDDS):c.63+11del	Retinitis pigmentosa 59 [RCV002131633]	likely benign	1	26433018	26433018	Human	1	name
156356577	CV1876542	single nucleotide variant	NM_205861.3(DHDDS):c.440+6T>C	Retinitis pigmentosa 59 [RCV003065289]	uncertain significance	1	26446438	26446438	Human	1	name
155950899	CV1880109	single nucleotide variant	NM_205861.3(DHDDS):c.542+6C>A	Inborn genetic diseases [RCV003074145]\|Retinitis pigmentosa 59 [RCV003074146]	uncertain significance	1	26447666	26447666	Human	2	name
156318870	CV1897671	single nucleotide variant	NM_205861.3(DHDDS):c.324-6G>C	Retinitis pigmentosa 59 [RCV002579115]	likely benign	1	26446310	26446310	Human	1	name
155903333	CV1975812	single nucleotide variant	NM_205861.3(DHDDS):c.766-7C>G	Retinitis pigmentosa 59 [RCV002613524]	likely benign	1	26468888	26468888	Human	1	name
156318664	CV2018182	single nucleotide variant	NM_205861.3(DHDDS):c.64-20T>C	Retinitis pigmentosa 59 [RCV002672051]	likely benign	1	26438148	26438148	Human	1	name
156265710	CV2059599	single nucleotide variant	NM_205861.3(DHDDS):c.658-5C>G	Retinitis pigmentosa 59 [RCV002806484]	likely benign	1	26460032	26460032	Human	1	name
156114350	CV2065628	single nucleotide variant	NM_205861.3(DHDDS):c.180+8T>C	Retinitis pigmentosa 59 [RCV002871021]	uncertain significance	1	26438292	26438292	Human	1	name
156018520	CV2079971	single nucleotide variant	NM_205861.3(DHDDS):c.765+7A>G	Retinitis pigmentosa 59 [RCV002866484]	likely benign	1	26460151	26460151	Human	1	name
156252508	CV2082664	single nucleotide variant	NM_205861.3(DHDDS):c.324-8C>T	Retinitis pigmentosa 59 [RCV002876993]	likely benign	1	26446308	26446308	Human	1	name
156152107	CV2100346	single nucleotide variant	NM_205861.3(DHDDS):c.440+7T>A	Retinitis pigmentosa 59 [RCV002872356]	likely benign	1	26446439	26446439	Human	1	name
155967219	CV2142620	single nucleotide variant	NM_205861.3(DHDDS):c.658-5C>T	Retinitis pigmentosa 59 [RCV002995447]	likely benign	1	26460032	26460032	Human	1	name
156073495	CV2165311	duplication	NM_205861.3(DHDDS):c.180+6dup	Retinitis pigmentosa 59 [RCV003037640]	likely benign	1	26438289	26438290	Human	1	name
156196952	CV2171623	single nucleotide variant	NM_205861.3(DHDDS):c.63+19C>T	Retinitis pigmentosa 59 [RCV003024319]	likely benign	1	26433027	26433027	Human	1	name
156351958	CV2190381	single nucleotide variant	NM_205861.3(DHDDS):c.181-8C>T	Retinitis pigmentosa 59 [RCV003048403]	likely benign	1	26442723	26442723	Human	1	name
11596577	CV280345	single nucleotide variant	NM_205861.3(DHDDS):c.*1300G>C	Retinitis pigmentosa [RCV000383794]\|not provided [RCV004714770]	benign\|likely benign	1	26470431	26470431	Human	10	name
11596577	CV280345	single nucleotide variant	NM_205861.3(DHDDS):c.*1300G>C	Retinitis pigmentosa [RCV000383794]\|not provided [RCV004714770]	benign\|likely benign	1	26470431	26470432	Human	10	name
11585896	CV280350	single nucleotide variant	NM_205861.3(DHDDS):c.*1343C>T	Retinitis pigmentosa [RCV000284192]	uncertain significance	1	26470474	26470474	Human	2	name
11589588	CV280351	single nucleotide variant	NM_205861.3(DHDDS):c.*2069A>G	Retinitis pigmentosa [RCV000311365]	uncertain significance	1	26471200	26471200	Human	2	name
11592131	CV280725	single nucleotide variant	NM_205861.3(DHDDS):c.*1826A>T	Retinitis Pigmentosa, Recessive [RCV000335571]	uncertain significance	1	26470957	26470957	Human	1	name
11598337	CV280726	single nucleotide variant	NM_205861.3(DHDDS):c.*1886C>T	Retinitis pigmentosa [RCV000404184]\|not provided [RCV004713666]	benign\|likely benign	1	26471017	26471017	Human	2	name
11592491	CV282041	single nucleotide variant	NM_205861.3(DHDDS):c.*1431C>T	Retinitis pigmentosa [RCV000339276]	uncertain significance	1	26470562	26470562	Human	2	name
11588624	CV282042	single nucleotide variant	NM_205861.3(DHDDS):c.*1769G>A	Retinitis pigmentosa [RCV000304050]	uncertain significance	1	26470900	26470900	Human	2	name
11651701	CV282043	single nucleotide variant	NM_205861.3(DHDDS):c.*1995C>T	Retinitis Pigmentosa, Recessive [RCV000300368]	uncertain significance	1	26471126	26471126	Human	1	name
11595470	CV282045	single nucleotide variant	NM_205861.3(DHDDS):c.*2104A>T	Retinitis pigmentosa [RCV000370809]	uncertain significance	1	26471235	26471235	Human	2	name
11663121	CV282167	single nucleotide variant	NM_205861.3(DHDDS):c.*1705G>A	Retinitis pigmentosa [RCV000392523]	uncertain significance	1	26470836	26470836	Human	2	name
11594084	CV282168	single nucleotide variant	NM_205861.3(DHDDS):c.*2032C>T	Retinitis pigmentosa [RCV000355250]\|not provided [RCV004714771]	benign\|likely benign	1	26471163	26471163	Human	2	name
11597461	CV282169	single nucleotide variant	NM_205861.3(DHDDS):c.*2045T>A	Retinitis pigmentosa [RCV000394455]	uncertain significance	1	26471176	26471176	Human	2	name
404997083	CV2870942	single nucleotide variant	NM_205861.3(DHDDS):c.323+9C>G	Retinitis pigmentosa 59 [RCV003525730]	likely benign	1	26442882	26442882	Human	1	name
405011737	CV2906119	single nucleotide variant	NM_205861.3(DHDDS):c.64-19T>C	Retinitis pigmentosa 59 [RCV003527324]	likely benign	1	26438149	26438149	Human	1	name
405013233	CV2911971	single nucleotide variant	NM_205861.3(DHDDS):c.765+7A>T	Retinitis pigmentosa 59 [RCV003527468]	likely benign	1	26460151	26460151	Human	1	name
405000956	CV2917265	single nucleotide variant	NM_205861.3(DHDDS):c.657+8A>G	Retinitis pigmentosa 59 [RCV003526298]	likely benign	1	26457913	26457913	Human	1	name
405001438	CV2924902	single nucleotide variant	NM_205861.3(DHDDS):c.323+7T>G	Retinitis pigmentosa 59 [RCV003526355]	likely benign	1	26442880	26442880	Human	1	name
405003589	CV2932899	single nucleotide variant	NM_205861.3(DHDDS):c.324-9C>A	Retinitis pigmentosa 59 [RCV003526565]	likely benign	1	26446307	26446307	Human	1	name
405194933	CV2952606	single nucleotide variant	NM_205861.3(DHDDS):c.324-9C>T	Retinitis pigmentosa 59 [RCV003641331]	likely benign	1	26446307	26446307	Human	1	name
405194949	CV2952677	single nucleotide variant	NM_205861.3(DHDDS):c.543-5C>G	Retinitis pigmentosa 59 [RCV003641333]	likely benign	1	26457786	26457786	Human	1	name
405194855	CV2962571	single nucleotide variant	NM_205861.3(DHDDS):c.765+9G>C	Retinitis pigmentosa 59 [RCV003641321]	likely benign	1	26460153	26460153	Human	1	name
405196902	CV2982664	single nucleotide variant	NM_205861.3(DHDDS):c.64-19T>G	Retinitis pigmentosa 59 [RCV003641610]	likely benign	1	26438149	26438149	Human	1	name
405197877	CV2992295	single nucleotide variant	NM_205861.3(DHDDS):c.657+1G>A	Retinitis pigmentosa 59 [RCV003641756]	likely pathogenic	1	26457906	26457906	Human	1	name
405198021	CV2996197	single nucleotide variant	NM_205861.3(DHDDS):c.543-3T>C	Retinitis pigmentosa 59 [RCV003641777]	uncertain significance	1	26457788	26457788	Human	1	name
405188331	CV3011046	single nucleotide variant	NM_205861.3(DHDDS):c.440+7T>G	Retinitis pigmentosa 59 [RCV003640505]	likely benign	1	26446439	26446439	Human	1	name
405198601	CV3011864	single nucleotide variant	NM_205861.3(DHDDS):c.766-8T>C	Retinitis pigmentosa 59 [RCV003641860]	likely benign	1	26468887	26468887	Human	1	name
405187488	CV3015589	single nucleotide variant	NM_205861.3(DHDDS):c.765+8A>G	Retinitis pigmentosa 59 [RCV003640403]	likely benign	1	26460152	26460152	Human	1	name
405200113	CV3064127	single nucleotide variant	NM_205861.3(DHDDS):c.63+18G>A	Retinitis pigmentosa 59 [RCV003642059]	likely benign	1	26433026	26433026	Human	1	name
405194623	CV3167675	single nucleotide variant	NM_205861.3(DHDDS):c.64-11C>T	Retinitis pigmentosa 59 [RCV003860081]	likely benign	1	26438157	26438157	Human	1	name
402465779	CV3177348	single nucleotide variant	NM_205861.3(DHDDS):c.180+9G>A	Retinitis pigmentosa 59 [RCV003872979]	likely benign	1	26438293	26438293	Human	1	name
405853961	CV3393724	single nucleotide variant	NM_205861.3(DHDDS):c.658-6T>A	not provided [RCV004546950]	likely benign	1	26460031	26460031	Human		name
405872982	CV3400297	single nucleotide variant	NM_205861.3(DHDDS):c.324-1G>T	Retinitis pigmentosa 59 [RCV004575802]	likely pathogenic	1	26446315	26446315	Human	1	name
408393517	CV3526168	single nucleotide variant	NM_205861.3(DHDDS):c.766-3C>T	Developmental delay and seizures with or without movement abnormalities [RCV004771600]	uncertain significance	1	26468892	26468892	Human	1	name
13519311	CV491179	single nucleotide variant	NM_205861.3(DHDDS):c.542+8G>A	DHDDS-related disorder [RCV003905534]\|Retinitis pigmentosa 59 [RCV000955689]\|not provided [RCV004715307]\|not specified [RCV000597862]	benign	1	26447668	26447668	Human	1	name , trait , alternate_id
28884311	CV864278	single nucleotide variant	NM_205861.3(DHDDS):c.*1261C>T	Retinitis pigmentosa [RCV001097769]	uncertain significance	1	26470392	26470392	Human	2	name
28884316	CV864279	single nucleotide variant	NM_205861.3(DHDDS):c.*1439C>G	Retinitis pigmentosa [RCV001097770]	uncertain significance	1	26470570	26470570	Human	2	name
28889797	CV864280	single nucleotide variant	NM_205861.3(DHDDS):c.*1464C>T	Retinitis pigmentosa [RCV001099563]	uncertain significance	1	26470595	26470595	Human	2	name
28889802	CV864281	single nucleotide variant	NM_205861.3(DHDDS):c.*1497C>T	Retinitis pigmentosa [RCV001099564]	uncertain significance	1	26470628	26470628	Human	2	name
28889807	CV864282	single nucleotide variant	NM_205861.3(DHDDS):c.*1571A>C	Retinitis pigmentosa [RCV001099565]	uncertain significance	1	26470702	26470702	Human	2	name
28889810	CV864283	single nucleotide variant	NM_205861.3(DHDDS):c.*1574C>T	Retinitis pigmentosa [RCV001099566]	uncertain significance	1	26470705	26470705	Human	2	name
38488248	CV940630	deletion	NM_205861.3(DHDDS):c.766-4del	Retinitis pigmentosa 59 [RCV001221127]	uncertain significance	1	26468891	26468891	Human	1	name
127261633	CV1087299	single nucleotide variant	NM_205861.3(DHDDS):c.181-16C>A	Developmental delay and seizures with or without movement abnormalities [RCV001420530]\|Retinitis pigmentosa 59 [RCV002070261]	likely benign\|uncertain significance	1	26442715	26442715	Human	2	name
127319280	CV1131338	single nucleotide variant	NM_205861.3(DHDDS):c.543-10C>T	Retinitis pigmentosa 59 [RCV001503974]	likely benign	1	26457781	26457781	Human	1	name
127338157	CV1131339	single nucleotide variant	NM_205861.3(DHDDS):c.766-10T>G	Retinitis pigmentosa 59 [RCV001493626]	likely benign	1	26468885	26468885	Human	1	name
150449928	CV1232613	single nucleotide variant	NM_205861.3(DHDDS):c.64-212G>A	not provided [RCV001647688]	benign	1	26437956	26437956	Human		name
151752222	CV1426836	single nucleotide variant	NM_205861.3(DHDDS):c.441-20T>G	Retinitis pigmentosa 59 [RCV002006978]	likely benign\|uncertain significance	1	26447539	26447539	Human	1	name
151846563	CV1434805	single nucleotide variant	NM_205861.3(DHDDS):c.542+11T>G	Retinitis pigmentosa 59 [RCV001922197]	likely benign\|uncertain significance	1	26447671	26447671	Human	1	name
151865282	CV1477466	single nucleotide variant	NM_205861.3(DHDDS):c.765+18G>T	Retinitis pigmentosa 59 [RCV001939084]	likely benign\|uncertain significance	1	26460162	26460162	Human	1	name
152158379	CV1552964	single nucleotide variant	NM_205861.3(DHDDS):c.440+20T>C	Retinitis pigmentosa 59 [RCV002180481]	likely benign	1	26446452	26446452	Human	1	name
152073605	CV1556662	single nucleotide variant	NM_205861.3(DHDDS):c.440+14T>G	Retinitis pigmentosa 59 [RCV002111795]	likely benign	1	26446446	26446446	Human	1	name
152095794	CV1562009	single nucleotide variant	NM_205861.3(DHDDS):c.658-11A>G	Retinitis pigmentosa 59 [RCV002194899]	likely benign	1	26460026	26460026	Human	1	name
152149039	CV1566440	single nucleotide variant	NM_205861.3(DHDDS):c.441-18C>A	Retinitis pigmentosa 59 [RCV002139238]	likely benign	1	26447541	26447541	Human	1	name
152134155	CV1583072	single nucleotide variant	NM_205861.3(DHDDS):c.542+16T>C	Retinitis pigmentosa 59 [RCV002099883]	likely benign	1	26447676	26447676	Human	1	name
152050302	CV1585709	single nucleotide variant	NM_205861.3(DHDDS):c.766-10T>C	Retinitis pigmentosa 59 [RCV002145605]	likely benign	1	26468885	26468885	Human	1	name
152074072	CV1629988	single nucleotide variant	NM_205861.3(DHDDS):c.323+10T>C	Retinitis pigmentosa 59 [RCV002169669]	likely benign	1	26442883	26442883	Human	1	name
152126558	CV1646374	single nucleotide variant	NM_205861.3(DHDDS):c.766-18C>T	Retinitis pigmentosa 59 [RCV002217487]	likely benign	1	26468877	26468877	Human	1	name
155268237	CV1705306	single nucleotide variant	NM_205861.3(DHDDS):c.543-86A>G	not provided [RCV002285911]	likely benign	1	26457705	26457705	Human		name
156408626	CV1870189	single nucleotide variant	NM_205861.3(DHDDS):c.323+11A>C	Retinitis pigmentosa 59 [RCV003071345]	likely benign	1	26442884	26442884	Human	1	name
10048896	CV195021	single nucleotide variant	NM_205861.3(DHDDS):c.324-10C>T	Retinitis pigmentosa 59 [RCV000974771]\|not provided [RCV001726024]\|not specified [RCV000178997]	benign\|likely benign	1	26446306	26446306	Human	1	name
156221025	CV1995781	single nucleotide variant	NM_205861.3(DHDDS):c.657+11T>G	Retinitis pigmentosa 59 [RCV002667227]	likely benign	1	26457916	26457916	Human	1	name
156202645	CV2034806	single nucleotide variant	NM_205861.3(DHDDS):c.766-12T>A	Retinitis pigmentosa 59 [RCV002766298]	likely benign	1	26468883	26468883	Human	1	name
156058153	CV2060697	single nucleotide variant	NM_205861.3(DHDDS):c.180+18A>G	Retinitis pigmentosa 59 [RCV002797001]	likely benign	1	26438302	26438302	Human	1	name
156102992	CV2084257	single nucleotide variant	NM_205861.3(DHDDS):c.323+16A>T	Retinitis pigmentosa 59 [RCV002848153]	likely benign	1	26442889	26442889	Human	1	name
156254408	CV2098183	single nucleotide variant	NM_205861.3(DHDDS):c.180+13G>A	Retinitis pigmentosa 59 [RCV002895369]	likely benign	1	26438297	26438297	Human	1	name
156136105	CV2120756	single nucleotide variant	NM_205861.3(DHDDS):c.440+10C>T	Retinitis pigmentosa 59 [RCV002982140]	likely benign	1	26446442	26446442	Human	1	name
404995148	CV2858778	single nucleotide variant	NM_205861.3(DHDDS):c.324-20T>C	Retinitis pigmentosa 59 [RCV003525567]	likely benign	1	26446296	26446296	Human	1	name
405011437	CV2895645	single nucleotide variant	NM_205861.3(DHDDS):c.323+17G>A	Retinitis pigmentosa 59 [RCV003527271]	likely benign	1	26442890	26442890	Human	1	name
405011994	CV2902879	single nucleotide variant	NM_205861.3(DHDDS):c.658-11A>T	Retinitis pigmentosa 59 [RCV003527349]	likely benign	1	26460026	26460026	Human	1	name
405014705	CV2908817	single nucleotide variant	NM_205861.3(DHDDS):c.543-11G>C	Retinitis pigmentosa 59 [RCV003527585]	likely benign	1	26457780	26457780	Human	1	name
405016365	CV2909006	single nucleotide variant	NM_205861.3(DHDDS):c.543-10C>G	Retinitis pigmentosa 59 [RCV003527619]	likely benign	1	26457781	26457781	Human	1	name
405014880	CV2916147	single nucleotide variant	NM_205861.3(DHDDS):c.441-14T>G	Retinitis pigmentosa 59 [RCV003527603]	likely benign	1	26447545	26447545	Human	1	name
405000952	CV2917260	single nucleotide variant	NM_205861.3(DHDDS):c.658-17C>T	Retinitis pigmentosa 59 [RCV003526297]	likely benign	1	26460020	26460020	Human	1	name
405001635	CV2921796	single nucleotide variant	NM_205861.3(DHDDS):c.657+17T>C	Retinitis pigmentosa 59 [RCV003526376]	likely benign	1	26457922	26457922	Human	1	name
405193402	CV2937694	single nucleotide variant	NM_205861.3(DHDDS):c.543-11G>T	Retinitis pigmentosa 59 [RCV003641150]	likely benign	1	26457780	26457780	Human	1	name
405195019	CV2966905	single nucleotide variant	NM_205861.3(DHDDS):c.658-12T>C	Retinitis pigmentosa 59 [RCV003641343]	likely benign	1	26460025	26460025	Human	1	name
405196702	CV2978664	single nucleotide variant	NM_205861.3(DHDDS):c.542+11T>C	Retinitis pigmentosa 59 [RCV003641581]	uncertain significance	1	26447671	26447671	Human	1	name
405198035	CV2996232	single nucleotide variant	NM_205861.3(DHDDS):c.658-11A>C	Retinitis pigmentosa 59 [RCV003641779]	likely benign	1	26460026	26460026	Human	1	name
405197728	CV2998595	single nucleotide variant	NM_205861.3(DHDDS):c.324-18C>T	Retinitis pigmentosa 59 [RCV003641734]	likely benign	1	26446298	26446298	Human	1	name
405187715	CV3013311	single nucleotide variant	NM_205861.3(DHDDS):c.180+19G>A	Retinitis pigmentosa 59 [RCV003640431]	likely benign	1	26438303	26438303	Human	1	name
405188226	CV3017327	single nucleotide variant	NM_205861.3(DHDDS):c.181-17G>A	Retinitis pigmentosa 59 [RCV003640491]	likely benign	1	26442714	26442714	Human	1	name
405190507	CV3040017	single nucleotide variant	NM_205861.3(DHDDS):c.542+18G>A	Retinitis pigmentosa 59 [RCV003640783]	likely benign	1	26447678	26447678	Human	1	name
405199490	CV3052409	single nucleotide variant	NM_205861.3(DHDDS):c.766-20T>C	Retinitis pigmentosa 59 [RCV003641981]	likely benign	1	26468875	26468875	Human	1	name
405199831	CV3067434	single nucleotide variant	NM_205861.3(DHDDS):c.658-20C>G	Retinitis pigmentosa 59 [RCV003642025]	likely benign	1	26460017	26460017	Human	1	name
405047118	CV3150686	single nucleotide variant	NM_205861.3(DHDDS):c.765+19C>T	Retinitis pigmentosa 59 [RCV003849289]	likely benign	1	26460163	26460163	Human	1	name
405196434	CV3168057	single nucleotide variant	NM_205861.3(DHDDS):c.658-19T>C	Retinitis pigmentosa 59 [RCV003860189]	likely benign	1	26460018	26460018	Human	1	name
405253593	CV3178566	single nucleotide variant	NM_205861.3(DHDDS):c.180+15C>T	Retinitis pigmentosa 59 [RCV003871167]	likely benign	1	26438299	26438299	Human	1	name
404982883	CV3184258	single nucleotide variant	NM_205861.3(DHDDS):c.658-12T>G	Retinitis pigmentosa 59 [RCV003880750]	likely benign	1	26460025	26460025	Human	1	name
597952993	CV3756961	deletion	NM_205861.3(DHDDS):c.542+17del	Retinitis pigmentosa 59 [RCV005079822]	benign	1	26447674	26447674	Human	1	name
597904541	CV3856398	single nucleotide variant	NM_205861.3(DHDDS):c.765+15A>G	Retinitis pigmentosa 59 [RCV005202626]	likely benign	1	26460159	26460159	Human	1	name
13506349	CV481160	single nucleotide variant	NM_205861.3(DHDDS):c.441-24A>G	Congenital disorder of glycosylation, type Ibb [RCV000578121]\|Retinitis pigmentosa 59 [RCV001860002]	pathogenic\|likely pathogenic	1	26447535	26447535	Human	1	name
15117829	CV787056	single nucleotide variant	NM_205861.3(DHDDS):c.441-10C>T	Retinitis pigmentosa 59 [RCV001432858]	likely benign	1	26447549	26447549	Human	1	name
150332562	CV1170711	deletion	NM_205861.3(DHDDS):c.543-208del	not provided [RCV001539099]	benign	1	26457566	26457566	Human		name
150428693	CV1186171	single nucleotide variant	NM_205861.3(DHDDS):c.543-287T>C	not provided [RCV001562598]	likely benign	1	26457504	26457504	Human		name
150405044	CV1192844	single nucleotide variant	NM_205861.3(DHDDS):c.181-161A>G	not provided [RCV001571446]	likely benign	1	26442570	26442570	Human		name
150442143	CV1246844	single nucleotide variant	NM_205861.3(DHDDS):c.-55-233A>G	not provided [RCV001666498]	benign	1	26432658	26432658	Human	3	name
150442143	CV1246844	single nucleotide variant	NM_205861.3(DHDDS):c.-55-233A>G	not provided [RCV001666498]	benign	1	26432658	26432659	Human	3	name
11644955	CV280712	microsatellite	NM_205861.3(DHDDS):c.*685CTC[2]	Retinitis Pigmentosa, Recessive [RCV000262638]	uncertain significance	1	26469816	26469818	Human		name
11662100	CV282032	microsatellite	NM_205861.3(DHDDS):c.*1178CTT[2]	Retinitis Pigmentosa, Recessive [RCV000382660]	uncertain significance	1	26470309	26470311	Human		name
150440754	CV1233434	microsatellite	NM_205861.3(DHDDS):c.440+256GT[12]	not provided [RCV001645122]	benign	1	26446687	26446688	Human		name
155910958	CV2033030	deletion	NM_205861.3(DHDDS):c.650_657+54del	Retinitis pigmentosa 59 [RCV002750132]	likely pathogenic	1	26457897	26457958	Human	1	name
152065878	CV1646913	single nucleotide variant	NM_205861.3(DHDDS):c.6A>G (p.Ser2=)	Retinitis pigmentosa 59 [RCV002128967]	likely benign	1	26432951	26432951	Human	1	name
155944625	CV1935541	deletion	NM_205861.3(DHDDS):c.323+2_323+5del	Retinitis pigmentosa 59 [RCV003465779]\|not provided [RCV002511288]	likely pathogenic\|uncertain significance	1	26442872	26442875	Human	1	name
11649591	CV282154	duplication	NM_205861.3(DHDDS):c.1179_1180dup	Retinitis Pigmentosa, Recessive [RCV000288167]	uncertain significance	1	26470309	26470310	Human	1	name
11641019	CV282159	duplication	NM_205861.3(DHDDS):c.1182_1183dup	Retinitis Pigmentosa, Recessive [RCV000347925]	uncertain significance	1	26470312	26470313	Human	1	name
596945514	CV3407475	microsatellite	NM_205861.3(DHDDS):c.440+3_440+6del	Retinal dystrophy [RCV004818567]	uncertain significance	1	26446431	26446434	Human		name
151856390	CV1372614	duplication	NM_205861.3(DHDDS):c.658-11_658-9dup	Retinitis pigmentosa 59 [RCV002033825]	likely benign\|uncertain significance	1	26460025	26460026	Human	1	name
405188792	CV3018664	single nucleotide variant	NM_205861.3(DHDDS):c.12C>T (p.Ile4=)	Retinitis pigmentosa 59 [RCV003640558]	likely benign	1	26432957	26432957	Human	1	name
127254123	CV1067193	single nucleotide variant	NM_205861.3(DHDDS):c.78G>A (p.Pro26=)	Retinitis pigmentosa 59 [RCV001418499]	likely benign	1	26438182	26438182	Human	1	name
127262979	CV1088958	single nucleotide variant	NM_205861.3(DHDDS):c.42G>C (p.Arg14=)	Retinitis pigmentosa 59 [RCV001428466]	likely benign	1	26432987	26432987	Human	1	name
152116301	CV1610923	single nucleotide variant	NM_205861.3(DHDDS):c.81A>G (p.Lys27=)	Retinitis pigmentosa 59 [RCV002135137]	likely benign	1	26438185	26438185	Human	1	name
152147399	CV1636881	single nucleotide variant	NM_205861.3(DHDDS):c.93C>T (p.Phe31=)	Retinitis pigmentosa 59 [RCV002201439]	likely benign	1	26438197	26438197	Human	1	name
156349590	CV2069402	single nucleotide variant	NM_205861.3(DHDDS):c.42G>A (p.Arg14=)	Retinitis pigmentosa 59 [RCV002811680]	likely benign	1	26432987	26432987	Human	1	name
156137217	CV2082092	single nucleotide variant	NM_205861.3(DHDDS):c.51C>T (p.Ala17=)	Retinitis pigmentosa 59 [RCV002871855]	likely benign	1	26432996	26432996	Human	1	name
156188009	CV2086630	deletion	NM_205861.3(DHDDS):c.440+12_440+13del	Retinitis pigmentosa 59 [RCV002852045]	likely benign	1	26446443	26446444	Human	1	name
405015293	CV2920067	single nucleotide variant	NM_205861.3(DHDDS):c.40C>A (p.Arg14=)	Retinitis pigmentosa 59 [RCV003527633]	likely benign	1	26432985	26432985	Human	1	name
405196228	CV2966571	microsatellite	NM_205861.3(DHDDS):c.441-16_441-15del	Retinitis pigmentosa 59 [RCV003641512]	likely benign	1	26447540	26447541	Human		name
405189192	CV3029700	microsatellite	NM_205861.3(DHDDS):c.441-12_441-10del	Retinitis pigmentosa 59 [RCV003640604]	likely benign	1	26447542	26447544	Human		name
13621687	CV515893	single nucleotide variant	NM_205861.3(DHDDS):c.33T>C (p.Leu11=)	DHDDS-related disorder [RCV003980259]\|Retinitis pigmentosa 59 [RCV000648820]	likely benign	1	26432978	26432978	Human	1	name , trait , alternate_id
15163916	CV732350	single nucleotide variant	NM_205861.3(DHDDS):c.45C>T (p.Phe15=)	Retinitis pigmentosa 59 [RCV000903882]	likely benign	1	26432990	26432990	Human	1	name
15144697	CV746394	single nucleotide variant	NM_205861.3(DHDDS):c.57C>T (p.Ile19=)	DHDDS-related disorder [RCV003978040]\|Retinitis pigmentosa 59 [RCV000922413]	likely benign\|uncertain significance	1	26433002	26433002	Human	1	name , trait , alternate_id
127233197	CV1067194	single nucleotide variant	NM_205861.3(DHDDS):c.202C>T (p.Leu68=)	Retinitis pigmentosa 59 [RCV001396028]	likely benign	1	26442752	26442752	Human	1	name
127267765	CV1088960	single nucleotide variant	NM_205861.3(DHDDS):c.111T>G (p.Arg37=)	Retinitis pigmentosa 59 [RCV001440617]	likely benign	1	26438215	26438215	Human	1	name
127257245	CV1088961	single nucleotide variant	NM_205861.3(DHDDS):c.186G>T (p.Leu62=)	Retinitis pigmentosa 59 [RCV001427066]	likely benign	1	26442736	26442736	Human	1	name
127282202	CV1088962	single nucleotide variant	NM_205861.3(DHDDS):c.219G>A (p.Val73=)	Retinitis pigmentosa 59 [RCV001447677]	likely benign	1	26442769	26442769	Human	1	name
127270779	CV1088963	single nucleotide variant	NM_205861.3(DHDDS):c.264T>C (p.Ser88=)	Retinitis pigmentosa 59 [RCV001430728]	likely benign	1	26442814	26442814	Human	1	name
127321634	CV1110462	single nucleotide variant	NM_205861.3(DHDDS):c.273C>T (p.Asp91=)	Retinitis pigmentosa 59 [RCV001467331]	likely benign	1	26442823	26442823	Human	1	name
127333976	CV1131333	single nucleotide variant	NM_205861.3(DHDDS):c.231A>G (p.Ala77=)	Retinitis pigmentosa 59 [RCV001490522]	likely benign	1	26442781	26442781	Human	1	name
127293927	CV1131334	single nucleotide variant	NM_205861.3(DHDDS):c.270A>T (p.Val90=)	Retinitis pigmentosa 59 [RCV001496880]	likely benign	1	26442820	26442820	Human	1	name
151838415	CV1382745	single nucleotide variant	NM_205861.3(DHDDS):c.22G>C (p.Glu8Gln)	Retinitis pigmentosa 59 [RCV002031533]	uncertain significance	1	26432967	26432967	Human	1	name
151721121	CV1504577	single nucleotide variant	NM_205861.3(DHDDS):c.102C>T (p.Asp34=)	Retinitis pigmentosa 59 [RCV001983094]	likely benign	1	26438206	26438206	Human	1	name
152128206	CV1573959	single nucleotide variant	NM_205861.3(DHDDS):c.213A>G (p.Leu71=)	Retinitis pigmentosa 59 [RCV002155162]	likely benign	1	26442763	26442763	Human	1	name
152171911	CV1575659	single nucleotide variant	NM_205861.3(DHDDS):c.198G>A (p.Leu66=)	Retinitis pigmentosa 59 [RCV002183663]	likely benign	1	26442748	26442748	Human	1	name
152083227	CV1576758	single nucleotide variant	NM_205861.3(DHDDS):c.294G>T (p.Arg98=)	Retinitis pigmentosa 59 [RCV002193295]	likely benign	1	26442844	26442844	Human	1	name
152170519	CV1592464	single nucleotide variant	NM_205861.3(DHDDS):c.294G>A (p.Arg98=)	Retinitis pigmentosa 59 [RCV002161801]	likely benign	1	26442844	26442844	Human	1	name
152075004	CV1616588	single nucleotide variant	NM_205861.3(DHDDS):c.186G>A (p.Leu62=)	Retinitis pigmentosa 59 [RCV002210476]	likely benign	1	26442736	26442736	Human	1	name
152164224	CV1619730	single nucleotide variant	NM_205861.3(DHDDS):c.138G>A (p.Glu46=)	Retinitis pigmentosa 59 [RCV002181491]	likely benign	1	26438242	26438242	Human	1	name
152074422	CV1630162	single nucleotide variant	NM_205861.3(DHDDS):c.126G>A (p.Lys42=)	Retinitis pigmentosa 59 [RCV002169714]	likely benign	1	26438230	26438230	Human	1	name
156015220	CV1986287	single nucleotide variant	NM_205861.3(DHDDS):c.117T>C (p.Tyr39=)	Retinitis pigmentosa 59 [RCV002636430]	likely benign	1	26438221	26438221	Human	1	name
156395625	CV2012231	single nucleotide variant	NM_205861.3(DHDDS):c.177T>C (p.Ala59=)	Retinitis pigmentosa 59 [RCV002725518]	likely benign	1	26438281	26438281	Human	1	name
156032301	CV2029832	single nucleotide variant	NM_205861.3(DHDDS):c.261G>A (p.Lys87=)	Retinitis pigmentosa 59 [RCV002735856]	likely benign	1	26442811	26442811	Human	1	name
156299857	CV2119440	single nucleotide variant	NM_205861.3(DHDDS):c.135G>T (p.Val45=)	Retinitis pigmentosa 59 [RCV002962092]	likely benign	1	26438239	26438239	Human	1	name
155909548	CV2156847	single nucleotide variant	NM_205861.3(DHDDS):c.19G>A (p.Gly7Arg)	Retinitis pigmentosa 59 [RCV003012150]	uncertain significance	1	26432964	26432964	Human	1	name
156137490	CV2165825	single nucleotide variant	NM_205861.3(DHDDS):c.139C>A (p.Arg47=)	Retinitis pigmentosa 59 [RCV003022403]	likely benign	1	26438243	26438243	Human	1	name
401935490	CV2812508	single nucleotide variant	NM_205861.3(DHDDS):c.132G>A (p.Gln44=)	not provided [RCV003412946]	likely benign	1	26438236	26438236	Human		name
404995275	CV2855464	single nucleotide variant	NM_205861.3(DHDDS):c.168C>T (p.Asn56=)	Retinitis pigmentosa 59 [RCV003525580]	likely benign	1	26438272	26438272	Human	1	name
404994460	CV2857985	single nucleotide variant	NM_205861.3(DHDDS):c.189G>C (p.Arg63=)	Retinitis pigmentosa 59 [RCV003525496]	likely benign	1	26442739	26442739	Human	1	name
404994029	CV2860653	single nucleotide variant	NM_205861.3(DHDDS):c.153C>T (p.His51=)	Retinitis pigmentosa 59 [RCV003525452]	likely benign	1	26438257	26438257	Human	1	name
404997510	CV2868173	single nucleotide variant	NM_205861.3(DHDDS):c.108C>T (p.Asn36=)	Retinitis pigmentosa 59 [RCV003525800]	likely benign	1	26438212	26438212	Human	1	name
405013847	CV2915175	deletion	NM_205861.3(DHDDS):c.1_2del (p.Met1fs)	Retinitis pigmentosa 59 [RCV003527527]	uncertain significance	1	26432945	26432946	Human	1	name
405000717	CV2917124	single nucleotide variant	NM_205861.3(DHDDS):c.141G>A (p.Arg47=)	Retinitis pigmentosa 59 [RCV003526270]	likely benign	1	26438245	26438245	Human	1	name
405003012	CV2926296	single nucleotide variant	NM_205861.3(DHDDS):c.144G>A (p.Gln48=)	Retinitis pigmentosa 59 [RCV003526509]	likely benign	1	26438248	26438248	Human	1	name
405196321	CV2977163	single nucleotide variant	NM_205861.3(DHDDS):c.120C>G (p.Ala40=)	Retinitis pigmentosa 59 [RCV003641526]	likely benign	1	26438224	26438224	Human	1	name
405189338	CV3019786	single nucleotide variant	NM_205861.3(DHDDS):c.207C>T (p.Gly69=)	Retinitis pigmentosa 59 [RCV003640621]	likely benign	1	26442757	26442757	Human	1	name
402515207	CV3178871	single nucleotide variant	NM_205861.3(DHDDS):c.171G>A (p.Lys57=)	Retinitis pigmentosa 59 [RCV003879304]	likely benign	1	26438275	26438275	Human	1	name
15135729	CV761843	single nucleotide variant	NM_205861.3(DHDDS):c.183T>C (p.Thr61=)	not provided [RCV000942965]	likely benign	1	26442733	26442733	Human		name
15179754	CV761844	single nucleotide variant	NM_205861.3(DHDDS):c.210C>T (p.Ile70=)	Retinitis pigmentosa 59 [RCV000929717]	likely benign	1	26442760	26442760	Human	1	name
15131628	CV761845	single nucleotide variant	NM_205861.3(DHDDS):c.228C>T (p.Tyr76=)	Retinitis pigmentosa 59 [RCV000942258]	likely benign	1	26442778	26442778	Human	1	name
126730402	CV987463	single nucleotide variant	NM_205861.3(DHDDS):c.20G>A (p.Gly7Glu)	Retinitis pigmentosa 59 [RCV001303725]	uncertain significance	1	26432965	26432965	Human	1	name
126757007	CV1002725	single nucleotide variant	NM_205861.3(DHDDS):c.85A>G (p.Ile29Val)	Retinitis pigmentosa 59 [RCV001317360]	uncertain significance	1	26438189	26438189	Human	1	name
8643078	CV102061	single nucleotide variant	NM_205861.3(DHDDS):c.909G>T (p.Ser303=)	Retinitis pigmentosa 59 [RCV001854439]\|not provided [RCV000082244]	likely benign\|uncertain significance	1	26469038	26469038	Human	1	name
126737928	CV1023203	single nucleotide variant	NM_205861.3(DHDDS):c.366C>T (p.Gly122=)	Retinitis pigmentosa 59 [RCV001350415]\|not provided [RCV004691429]	likely benign\|uncertain significance	1	26446358	26446358	Human	1	name
126758225	CV1023204	single nucleotide variant	NM_205861.3(DHDDS):c.621T>A (p.Ser207=)	Retinitis pigmentosa 59 [RCV001339789]	likely benign\|uncertain significance	1	26457869	26457869	Human	1	name
127282051	CV1067195	single nucleotide variant	NM_205861.3(DHDDS):c.312G>A (p.Leu104=)	Retinitis pigmentosa 59 [RCV001410864]	likely benign	1	26442862	26442862	Human	1	name
127280204	CV1067196	single nucleotide variant	NM_205861.3(DHDDS):c.516G>C (p.Gly172=)	Retinitis pigmentosa 59 [RCV001409650]	likely benign	1	26447634	26447634	Human	1	name
127238583	CV1067199	single nucleotide variant	NM_205861.3(DHDDS):c.886A>C (p.Arg296=)	Retinitis pigmentosa 59 [RCV001392499]	likely benign	1	26469015	26469015	Human	1	name
127280414	CV1088965	single nucleotide variant	NM_205861.3(DHDDS):c.465A>G (p.Ala155=)	Retinitis pigmentosa 59 [RCV001446426]	likely benign	1	26447583	26447583	Human	1	name
127278412	CV1088967	single nucleotide variant	NM_205861.3(DHDDS):c.651A>G (p.Leu217=)	Retinitis pigmentosa 59 [RCV001445058]	likely benign	1	26457899	26457899	Human	1	name
127259824	CV1088968	single nucleotide variant	NM_205861.3(DHDDS):c.756C>T (p.Ser252=)	Retinitis pigmentosa 59 [RCV001427673]	likely benign	1	26460135	26460135	Human	1	name
127283288	CV1088969	single nucleotide variant	NM_205861.3(DHDDS):c.837G>A (p.Glu279=)	Retinitis pigmentosa 59 [RCV001448450]	likely benign	1	26468966	26468966	Human	1	name
127245833	CV1088970	single nucleotide variant	NM_205861.3(DHDDS):c.912C>G (p.Ala304=)	Retinitis pigmentosa 59 [RCV001424410]	likely benign	1	26469041	26469041	Human	1	name
127299553	CV1110463	single nucleotide variant	NM_205861.3(DHDDS):c.361C>T (p.Leu121=)	Retinitis pigmentosa 59 [RCV001453618]	likely benign	1	26446353	26446353	Human	1	name
127330500	CV1110464	single nucleotide variant	NM_205861.3(DHDDS):c.423C>T (p.Ala141=)	Retinitis pigmentosa 59 [RCV001470895]	likely benign	1	26446415	26446415	Human	1	name
127319439	CV1110466	single nucleotide variant	NM_205861.3(DHDDS):c.459T>C (p.Cys153=)	Retinitis pigmentosa 59 [RCV001466541]	likely benign	1	26447577	26447577	Human	1	name
127301828	CV1110467	single nucleotide variant	NM_205861.3(DHDDS):c.549C>T (p.Ile183=)	Retinitis pigmentosa 59 [RCV001461487]	likely benign	1	26457797	26457797	Human	1	name
127331813	CV1110469	single nucleotide variant	NM_205861.3(DHDDS):c.702G>A (p.Glu234=)	Retinitis pigmentosa 59 [RCV001471796]	likely benign	1	26460081	26460081	Human	1	name
127331176	CV1110470	single nucleotide variant	NM_205861.3(DHDDS):c.723C>T (p.Phe241=)	Retinitis pigmentosa 59 [RCV001471367]	likely benign	1	26460102	26460102	Human	1	name
127325423	CV1131335	single nucleotide variant	NM_205861.3(DHDDS):c.348G>A (p.Val116=)	Retinitis pigmentosa 59 [RCV001485803]	likely benign	1	26446340	26446340	Human	1	name
127337688	CV1131337	single nucleotide variant	NM_205861.3(DHDDS):c.498G>A (p.Val166=)	Retinitis pigmentosa 59 [RCV001492983]	likely benign	1	26447616	26447616	Human	1	name
127310942	CV1153558	single nucleotide variant	NM_205861.3(DHDDS):c.564T>C (p.Leu188=)	Retinitis pigmentosa 59 [RCV001518446]\|not provided [RCV004714242]	benign	1	26457812	26457812	Human	1	name
150500035	CV1224708	deletion	NM_205861.3(DHDDS):c.543-209_543-208del	not provided [RCV001620540]	benign	1	26457566	26457567	Human		name
151348852	CV1324252	single nucleotide variant	NM_205861.3(DHDDS):c.63G>T (p.Lys21Asn)	Developmental delay and seizures with or without movement abnormalities [RCV001808168]	uncertain significance	1	26433008	26433008	Human	1	name
151746733	CV1364564	single nucleotide variant	NM_205861.3(DHDDS):c.684A>G (p.Gln228=)	Retinitis pigmentosa 59 [RCV001985813]	likely benign\|uncertain significance	1	26460063	26460063	Human	1	name
151766424	CV1410223	single nucleotide variant	NM_205861.3(DHDDS):c.74T>G (p.Met25Arg)	Inborn genetic diseases [RCV002562958]\|Retinitis pigmentosa 59 [RCV001987822]	uncertain significance	1	26438178	26438178	Human	2	name
151805688	CV1427211	single nucleotide variant	NM_205861.3(DHDDS):c.909G>A (p.Ser303=)	Retinitis pigmentosa 59 [RCV001899476]	likely benign\|uncertain significance	1	26469038	26469038	Human	1	name
151869799	CV1454024	single nucleotide variant	NM_205861.3(DHDDS):c.86T>C (p.Ile29Thr)	Retinitis pigmentosa 59 [RCV001906321]	uncertain significance	1	26438190	26438190	Human	1	name
151892688	CV1493893	single nucleotide variant	NM_205861.3(DHDDS):c.58A>G (p.Ile20Val)	Retinitis pigmentosa 59 [RCV001944378]	uncertain significance	1	26433003	26433003	Human	1	name
152121486	CV1521450	single nucleotide variant	NM_205861.3(DHDDS):c.309C>T (p.Arg103=)	Retinitis pigmentosa 59 [RCV002135761]	likely benign	1	26442859	26442859	Human	1	name
152055001	CV1521974	single nucleotide variant	NM_205861.3(DHDDS):c.561G>T (p.Leu187=)	Retinitis pigmentosa 59 [RCV002189855]	likely benign	1	26457809	26457809	Human	1	name
152115139	CV1525988	single nucleotide variant	NM_205861.3(DHDDS):c.855G>A (p.Gly285=)	Retinitis pigmentosa 59 [RCV002174830]	likely benign	1	26468984	26468984	Human	1	name
152098400	CV1530741	single nucleotide variant	NM_205861.3(DHDDS):c.789G>A (p.Glu263=)	Retinitis pigmentosa 59 [RCV002132939]	likely benign	1	26468918	26468918	Human	1	name
152162396	CV1535032	single nucleotide variant	NM_205861.3(DHDDS):c.738G>A (p.Gln246=)	Retinitis pigmentosa 59 [RCV002141142]	likely benign	1	26460117	26460117	Human	1	name
152044926	CV1539409	single nucleotide variant	NM_205861.3(DHDDS):c.813G>A (p.Glu271=)	Retinitis pigmentosa 59 [RCV002144978]	likely benign	1	26468942	26468942	Human	1	name
152033051	CV1542584	single nucleotide variant	NM_205861.3(DHDDS):c.957C>G (p.Leu319=)	Retinitis pigmentosa 59 [RCV002106491]	likely benign	1	26469086	26469086	Human	1	name
152031736	CV1548814	single nucleotide variant	NM_205861.3(DHDDS):c.603C>T (p.Asp201=)	Retinitis pigmentosa 59 [RCV002086436]	likely benign	1	26457851	26457851	Human	1	name
152154334	CV1550520	single nucleotide variant	NM_205861.3(DHDDS):c.808C>T (p.Leu270=)	Retinitis pigmentosa 59 [RCV002139974]	likely benign	1	26468937	26468937	Human	1	name
152152598	CV1565334	single nucleotide variant	NM_205861.3(DHDDS):c.621T>C (p.Ser207=)	Retinitis pigmentosa 59 [RCV002102459]	likely benign	1	26457869	26457869	Human	1	name
152149203	CV1569255	single nucleotide variant	NM_205861.3(DHDDS):c.450G>A (p.Leu150=)	Retinitis pigmentosa 59 [RCV002220530]	likely benign	1	26447568	26447568	Human	1	name
152120245	CV1574178	single nucleotide variant	NM_205861.3(DHDDS):c.687C>T (p.Pro229=)	Retinitis pigmentosa 59 [RCV002175474]	likely benign	1	26460066	26460066	Human	1	name
152175915	CV1580178	single nucleotide variant	NM_205861.3(DHDDS):c.879G>A (p.Gln293=)	Retinitis pigmentosa 59 [RCV002164053]	likely benign	1	26469008	26469008	Human	1	name
152111173	CV1582255	single nucleotide variant	NM_205861.3(DHDDS):c.357G>C (p.Arg119=)	Retinitis pigmentosa 59 [RCV002080269]	likely benign	1	26446349	26446349	Human	1	name
152044296	CV1584234	single nucleotide variant	NM_205861.3(DHDDS):c.750C>T (p.Asn250=)	Retinitis pigmentosa 59 [RCV002071410]	likely benign	1	26460129	26460129	Human	1	name
152046821	CV1600441	single nucleotide variant	NM_205861.3(DHDDS):c.916C>A (p.Arg306=)	Retinitis pigmentosa 59 [RCV002088645]	likely benign	1	26469045	26469045	Human	1	name
152165782	CV1611442	single nucleotide variant	NM_205861.3(DHDDS):c.846G>T (p.Leu282=)	Retinitis pigmentosa 59 [RCV002141786]	likely benign	1	26468975	26468975	Human	1	name
152120284	CV1612301	single nucleotide variant	NM_205861.3(DHDDS):c.561G>A (p.Leu187=)	Retinitis pigmentosa 59 [RCV002135622]	likely benign	1	26457809	26457809	Human	1	name
152175504	CV1614362	single nucleotide variant	NM_205861.3(DHDDS):c.847C>A (p.Arg283=)	Retinitis pigmentosa 59 [RCV002163639]	likely benign	1	26468976	26468976	Human	1	name
152092004	CV1616517	single nucleotide variant	NM_205861.3(DHDDS):c.711T>C (p.Phe237=)	Retinitis pigmentosa 59 [RCV002114201]	likely benign	1	26460090	26460090	Human	1	name
152152437	CV1623208	single nucleotide variant	NM_205861.3(DHDDS):c.438C>T (p.Asn146=)	Retinitis pigmentosa 59 [RCV002221023]	likely benign	1	26446430	26446430	Human	1	name
152112891	CV1623757	single nucleotide variant	NM_205861.3(DHDDS):c.429G>A (p.Lys143=)	Retinitis pigmentosa 59 [RCV002134716]	likely benign	1	26446421	26446421	Human	1	name
152073451	CV1633300	single nucleotide variant	NM_205861.3(DHDDS):c.646T>C (p.Leu216=)	Retinitis pigmentosa 59 [RCV002129900]	likely benign	1	26457894	26457894	Human	1	name
152055023	CV1637228	single nucleotide variant	NM_205861.3(DHDDS):c.753T>C (p.His251=)	Retinitis pigmentosa 59 [RCV002207974]	likely benign	1	26460132	26460132	Human	1	name
152080087	CV1663573	single nucleotide variant	NM_205861.3(DHDDS):c.588C>A (p.Arg196=)	Retinitis pigmentosa 59 [RCV002149194]	likely benign	1	26457836	26457836	Human	1	name
155672010	CV1773966	single nucleotide variant	NM_205861.3(DHDDS):c.79A>C (p.Lys27Gln)	Retinitis pigmentosa 59 [RCV002297537]	uncertain significance	1	26438183	26438183	Human	1	name
156366894	CV1902692	single nucleotide variant	NM_205861.3(DHDDS):c.864C>T (p.Ala288=)	Retinitis pigmentosa 59 [RCV003092123]	likely benign	1	26468993	26468993	Human	1	name
156092708	CV1909877	single nucleotide variant	NM_205861.3(DHDDS):c.492T>C (p.Asn164=)	Retinitis pigmentosa 59 [RCV002591969]	likely benign	1	26447610	26447610	Human	1	name
10053080	CV195755	single nucleotide variant	NM_205861.3(DHDDS):c.591T>G (p.Ser197=)	Retinitis pigmentosa 59 [RCV001462640]\|not provided [RCV000179978]	likely benign\|uncertain significance	1	26457839	26457839	Human	1	name
156120110	CV1959243	single nucleotide variant	NM_205861.3(DHDDS):c.516G>T (p.Gly172=)	Retinitis pigmentosa 59 [RCV002571829]	likely benign	1	26447634	26447634	Human	1	name
156350355	CV2001280	single nucleotide variant	NM_205861.3(DHDDS):c.408A>G (p.Ala136=)	Retinitis pigmentosa 59 [RCV002675548]	likely benign	1	26446400	26446400	Human	1	name
156018374	CV2019194	single nucleotide variant	NM_205861.3(DHDDS):c.973C>T (p.Leu325=)	Retinitis pigmentosa 59 [RCV002690876]	likely benign	1	26469102	26469102	Human	1	name
155920700	CV2027408	single nucleotide variant	NM_205861.3(DHDDS):c.843G>A (p.Leu281=)	Retinitis pigmentosa 59 [RCV002750701]	likely benign	1	26468972	26468972	Human	1	name
156014627	CV2038620	single nucleotide variant	NM_205861.3(DHDDS):c.649C>T (p.Leu217=)	Retinitis pigmentosa 59 [RCV002780332]	likely benign	1	26457897	26457897	Human	1	name
156021126	CV2058948	single nucleotide variant	NM_205861.3(DHDDS):c.705T>C (p.Tyr235=)	Retinitis pigmentosa 59 [RCV002820619]	likely benign	1	26460084	26460084	Human	1	name
156076840	CV2083508	deletion	NM_205861.3(DHDDS):c.100del (p.Asp34fs)	Retinitis pigmentosa 59 [RCV002847254]	pathogenic	1	26438203	26438203	Human	1	name
156095415	CV2087724	single nucleotide variant	NM_205861.3(DHDDS):c.951G>A (p.Leu317=)	Retinitis pigmentosa 59 [RCV002847877]	likely benign	1	26469080	26469080	Human	1	name
155979483	CV2093983	single nucleotide variant	NM_205861.3(DHDDS):c.876C>G (p.Ala292=)	DHDDS-related disorder [RCV004731300]\|Retinitis pigmentosa 59 [RCV002881862]	likely benign	1	26469005	26469005	Human	1	name , trait , alternate_id
156081246	CV2098681	single nucleotide variant	NM_205861.3(DHDDS):c.384C>T (p.Pro128=)	Retinitis pigmentosa 59 [RCV002912711]	likely benign	1	26446376	26446376	Human	1	name
156154574	CV2100456	single nucleotide variant	NM_205861.3(DHDDS):c.77C>T (p.Pro26Leu)	Retinitis pigmentosa 59 [RCV002872438]	uncertain significance	1	26438181	26438181	Human	1	name
156017643	CV2114589	single nucleotide variant	NM_205861.3(DHDDS):c.801G>A (p.Arg267=)	Retinitis pigmentosa 59 [RCV002909452]	likely benign	1	26468930	26468930	Human	1	name
156056529	CV2133835	single nucleotide variant	NM_205861.3(DHDDS):c.915A>G (p.Arg305=)	Retinitis pigmentosa 59 [RCV003000052]	likely benign	1	26469044	26469044	Human	1	name
155970971	CV2158103	single nucleotide variant	NM_205861.3(DHDDS):c.600T>C (p.Pro200=)	Retinitis pigmentosa 59 [RCV003033433]	likely benign	1	26457848	26457848	Human	1	name
156310824	CV2164066	single nucleotide variant	NM_205861.3(DHDDS):c.486C>T (p.Ile162=)	Retinitis pigmentosa 59 [RCV003046020]	likely benign	1	26447604	26447604	Human	1	name
156088617	CV2180785	single nucleotide variant	NM_205861.3(DHDDS):c.921A>G (p.Glu307=)	Retinitis pigmentosa 59 [RCV003054277]	likely benign	1	26469050	26469050	Human	1	name
243057437	CV2412046	single nucleotide variant	NM_205861.3(DHDDS):c.40C>T (p.Arg14Trp)	not provided [RCV003146059]	uncertain significance	1	26432985	26432985	Human		name
329847471	CV2524307	single nucleotide variant	NM_205861.3(DHDDS):c.54C>A (p.Asn18Lys)	not provided [RCV003227199]	uncertain significance	1	26432999	26432999	Human		name
401767960	CV2727335	single nucleotide variant	NM_205861.3(DHDDS):c.40C>G (p.Arg14Gly)	Inborn genetic diseases [RCV003283036]	uncertain significance	1	26432985	26432985	Human	1	name
11577599	CV281991	single nucleotide variant	NM_205861.3(DHDDS):c.468C>T (p.Tyr156=)	Retinitis pigmentosa 59 [RCV002059478]\|Retinitis pigmentosa [RCV000263611]	likely benign\|uncertain significance	1	26447586	26447586	Human	3	name
11579057	CV282024	single nucleotide variant	NM_205861.3(DHDDS):c.990T>C (p.Thr330=)	Retinitis pigmentosa 59 [RCV000883330]\|Retinitis pigmentosa [RCV000294598]	likely benign\|uncertain significance	1	26469119	26469119	Human	3	name
404994214	CV2854197	single nucleotide variant	NM_205861.3(DHDDS):c.345G>A (p.Gly115=)	Retinitis pigmentosa 59 [RCV003525471]	likely benign	1	26446337	26446337	Human	1	name
404995664	CV2866399	single nucleotide variant	NM_205861.3(DHDDS):c.576C>G (p.Leu192=)	Retinitis pigmentosa 59 [RCV003525618]	likely benign	1	26457824	26457824	Human	1	name
405005611	CV2869927	single nucleotide variant	NM_205861.3(DHDDS):c.450G>T (p.Leu150=)	Retinitis pigmentosa 59 [RCV003526757]	likely benign	1	26447568	26447568	Human	1	name
404997656	CV2878939	single nucleotide variant	NM_205861.3(DHDDS):c.387G>A (p.Leu129=)	Retinitis pigmentosa 59 [RCV003525813]	likely benign	1	26446379	26446379	Human	1	name
405006221	CV2884594	single nucleotide variant	NM_205861.3(DHDDS):c.894C>A (p.Arg298=)	Retinitis pigmentosa 59 [RCV003526814]	likely benign	1	26469023	26469023	Human	1	name
405012904	CV2900886	single nucleotide variant	NM_205861.3(DHDDS):c.91T>C (p.Phe31Leu)	Retinitis pigmentosa 59 [RCV003527437]	uncertain significance	1	26438195	26438195	Human	1	name
405015976	CV2909365	single nucleotide variant	NM_205861.3(DHDDS):c.846G>C (p.Leu282=)	Retinitis pigmentosa 59 [RCV003527624]	likely benign	1	26468975	26468975	Human	1	name
405014252	CV2912924	single nucleotide variant	NM_205861.3(DHDDS):c.783T>C (p.Tyr261=)	Retinitis pigmentosa 59 [RCV003527565]	likely benign	1	26468912	26468912	Human	1	name
405014261	CV2912954	single nucleotide variant	NM_205861.3(DHDDS):c.435C>T (p.Tyr145=)	Retinitis pigmentosa 59 [RCV003527566]	likely benign	1	26446427	26446427	Human	1	name
405000415	CV2913993	single nucleotide variant	NM_205861.3(DHDDS):c.310T>C (p.Leu104=)	Retinitis pigmentosa 59 [RCV003526239]	likely benign	1	26442860	26442860	Human	1	name
405001964	CV2930600	single nucleotide variant	NM_205861.3(DHDDS):c.44T>A (p.Phe15Tyr)	Retinitis pigmentosa 59 [RCV003526408]	uncertain significance	1	26432989	26432989	Human	1	name
405193037	CV2936489	single nucleotide variant	NM_205861.3(DHDDS):c.336G>A (p.Gln112=)	Retinitis pigmentosa 59 [RCV003641112]	likely benign	1	26446328	26446328	Human	1	name
405193205	CV2943572	single nucleotide variant	NM_205861.3(DHDDS):c.909G>C (p.Ser303=)	Retinitis pigmentosa 59 [RCV003641129]	likely benign	1	26469038	26469038	Human	1	name
405195701	CV2965110	single nucleotide variant	NM_205861.3(DHDDS):c.699A>G (p.Pro233=)	Retinitis pigmentosa 59 [RCV003641439]	likely benign	1	26460078	26460078	Human	1	name
405196242	CV2966660	single nucleotide variant	NM_205861.3(DHDDS):c.732C>T (p.Ile244=)	Retinitis pigmentosa 59 [RCV003641514]	likely benign	1	26460111	26460111	Human	1	name
405194990	CV2970553	single nucleotide variant	NM_205861.3(DHDDS):c.357G>A (p.Arg119=)	Retinitis pigmentosa 59 [RCV003641339]	likely benign	1	26446349	26446349	Human	1	name
405196120	CV2976362	single nucleotide variant	NM_205861.3(DHDDS):c.691C>T (p.Leu231=)	Retinitis pigmentosa 59 [RCV003641495]	likely benign	1	26460070	26460070	Human	1	name
405196499	CV2984883	single nucleotide variant	NM_205861.3(DHDDS):c.56T>G (p.Ile19Ser)	Retinitis pigmentosa 59 [RCV003641553]	uncertain significance	1	26433001	26433001	Human	1	name
405196468	CV2988131	single nucleotide variant	NM_205861.3(DHDDS):c.660C>A (p.Thr220=)	Retinitis pigmentosa 59 [RCV003641548]	likely benign	1	26460039	26460039	Human	1	name
405197157	CV2990157	single nucleotide variant	NM_205861.3(DHDDS):c.733C>T (p.Leu245=)	Retinitis pigmentosa 59 [RCV003641648]	likely benign	1	26460112	26460112	Human	1	name
405198309	CV3003505	single nucleotide variant	NM_205861.3(DHDDS):c.423C>A (p.Ala141=)	Retinitis pigmentosa 59 [RCV003641819]	likely benign	1	26446415	26446415	Human	1	name
405189438	CV3026850	single nucleotide variant	NM_205861.3(DHDDS):c.933A>G (p.Gln311=)	Retinitis pigmentosa 59 [RCV003640633]	likely benign	1	26469062	26469062	Human	1	name
405190943	CV3050377	single nucleotide variant	NM_205861.3(DHDDS):c.531G>T (p.Leu177=)	Retinitis pigmentosa 59 [RCV003640831]	likely benign	1	26447649	26447649	Human	1	name
405199594	CV3052724	single nucleotide variant	NM_205861.3(DHDDS):c.501A>G (p.Arg167=)	Retinitis pigmentosa 59 [RCV003641995]	likely benign	1	26447619	26447619	Human	1	name
405199732	CV3056928	single nucleotide variant	NM_205861.3(DHDDS):c.816G>A (p.Arg272=)	Retinitis pigmentosa 59 [RCV003642013]	likely benign	1	26468945	26468945	Human	1	name
405009851	CV3127972	single nucleotide variant	NM_205861.3(DHDDS):c.615G>T (p.Arg205=)	Retinitis pigmentosa 59 [RCV003828852]	likely benign	1	26457863	26457863	Human	1	name
405142024	CV3131297	single nucleotide variant	NM_205861.3(DHDDS):c.363G>A (p.Leu121=)	Retinitis pigmentosa 59 [RCV003839337]	likely benign	1	26446355	26446355	Human	1	name
405069162	CV3140204	single nucleotide variant	NM_205861.3(DHDDS):c.939C>T (p.Phe313=)	Retinitis pigmentosa 59 [RCV003833359]	likely benign	1	26469068	26469068	Human	1	name
405176358	CV3146893	single nucleotide variant	NM_205861.3(DHDDS):c.532T>C (p.Leu178=)	Retinitis pigmentosa 59 [RCV003841988]	likely benign	1	26447650	26447650	Human	1	name
405247654	CV3159014	single nucleotide variant	NM_205861.3(DHDDS):c.510C>T (p.Ala170=)	Retinitis pigmentosa 59 [RCV003869159]	likely benign	1	26447628	26447628	Human	1	name
405237178	CV3166576	single nucleotide variant	NM_205861.3(DHDDS):c.94A>G (p.Ile32Val)	Retinitis pigmentosa 59 [RCV003854026]	uncertain significance	1	26438198	26438198	Human	1	name
597942251	CV3779867	single nucleotide variant	NM_205861.3(DHDDS):c.540C>T (p.Pro180=)	Retinitis pigmentosa 59 [RCV005118876]	uncertain significance	1	26447658	26447658	Human	1	name
597947087	CV3841807	single nucleotide variant	NM_205861.3(DHDDS):c.978C>A (p.Ala326=)	Retinitis pigmentosa 59 [RCV005189241]	likely benign	1	26469107	26469107	Human	1	name
597864374	CV3861044	single nucleotide variant	NM_205861.3(DHDDS):c.35G>A (p.Trp12Ter)	Retinitis pigmentosa 59 [RCV005196392]	pathogenic	1	26432980	26432980	Human	1	name
598226582	CV3891222	single nucleotide variant	NM_205861.3(DHDDS):c.82C>T (p.His28Tyr)	Developmental delay and seizures with or without movement abnormalities [RCV005255041]	uncertain significance	1	26438186	26438186	Human	1	name
13495896	CV447763	single nucleotide variant	NM_205861.3(DHDDS):c.940C>T (p.Leu314=)	Retinitis pigmentosa 59 [RCV000559963]	likely benign	1	26469069	26469069	Human	1	name
15158765	CV746395	single nucleotide variant	NM_205861.3(DHDDS):c.519G>A (p.Val173=)	Retinitis pigmentosa 59 [RCV000925141]	likely benign	1	26447637	26447637	Human	1	name
15202710	CV761846	single nucleotide variant	NM_205861.3(DHDDS):c.426G>A (p.Thr142=)	Retinitis pigmentosa 59 [RCV001462663]	likely benign	1	26446418	26446418	Human	1	name
15132274	CV761847	single nucleotide variant	NM_205861.3(DHDDS):c.480T>C (p.His160=)	Retinitis pigmentosa 59 [RCV000942371]	likely benign	1	26447598	26447598	Human	1	name
15181353	CV761848	single nucleotide variant	NM_205861.3(DHDDS):c.504G>A (p.Glu168=)	Retinitis pigmentosa 59 [RCV000930106]	likely benign	1	26447622	26447622	Human	1	name
15144050	CV761849	single nucleotide variant	NM_205861.3(DHDDS):c.873C>T (p.Asp291=)	Retinitis pigmentosa 59 [RCV000944345]	likely benign	1	26469002	26469002	Human	1	name
15131749	CV780663	single nucleotide variant	NM_205861.3(DHDDS):c.363G>C (p.Leu121=)	Retinitis pigmentosa 59 [RCV000981263]	likely benign	1	26446355	26446355	Human	1	name
15137549	CV780664	single nucleotide variant	NM_205861.3(DHDDS):c.570G>A (p.Lys190=)	Retinitis pigmentosa 59 [RCV001429269]	likely benign	1	26457818	26457818	Human	1	name
15107394	CV780665	single nucleotide variant	NM_205861.3(DHDDS):c.720C>T (p.Leu240=)	Retinitis pigmentosa 59 [RCV000976818]	likely benign	1	26460099	26460099	Human	1	name
28878386	CV864265	single nucleotide variant	NM_205861.3(DHDDS):c.53A>G (p.Asn18Ser)	Retinitis pigmentosa 59 [RCV001229845]\|Retinitis pigmentosa [RCV001095893]	uncertain significance	1	26432998	26432998	Human	3	name
28889475	CV864267	single nucleotide variant	NM_205861.3(DHDDS):c.855G>T (p.Gly285=)	Retinitis pigmentosa 59 [RCV001426757]\|Retinitis pigmentosa [RCV001099447]	likely benign\|uncertain significance	1	26468984	26468984	Human	3	name
38457454	CV941911	single nucleotide variant	NM_205861.3(DHDDS):c.987C>T (p.Gly329=)	Retinitis pigmentosa 59 [RCV001228678]	likely benign\|uncertain significance	1	26469116	26469116	Human	1	name
126726155	CV987464	single nucleotide variant	NM_205861.3(DHDDS):c.65C>T (p.Ala22Val)	Retinitis pigmentosa 59 [RCV001302803]	uncertain significance	1	26438169	26438169	Human	1	name
126769458	CV1002726	single nucleotide variant	NM_205861.3(DHDDS):c.274G>A (p.Gly92Arg)	Retinitis pigmentosa 59 [RCV001321972]	uncertain significance	1	26442824	26442824	Human	1	name
127266368	CV1058718	duplication	NM_205861.3(DHDDS):c.517dup (p.Val173fs)	Retinitis pigmentosa 59 [RCV001381692]	pathogenic	1	26447629	26447630	Human	1	name
150495214	CV1204964	single nucleotide variant	NM_205861.3(DHDDS):c.109C>T (p.Arg37Cys)	Developmental delay and seizures with or without movement abnormalities [RCV003333167]\|Retinitis pigmentosa 59 [RCV001866177]\|Retinitis pigmentosa 59 [RCV005023207]\|not provided [RCV001593456]	pathogenic\|uncertain significance	1	26438213	26438213	Human	2	name
151733139	CV1355690	single nucleotide variant	NM_205861.3(DHDDS):c.259A>G (p.Lys87Glu)	Retinitis pigmentosa 59 [RCV001984413]	uncertain significance	1	26442809	26442809	Human	1	name
151809757	CV1374936	duplication	NM_205861.3(DHDDS):c.510dup (p.Trp171fs)	Retinitis pigmentosa 59 [RCV001933078]	pathogenic	1	26447626	26447627	Human	1	name
151802524	CV1378939	single nucleotide variant	NM_205861.3(DHDDS):c.143A>G (p.Gln48Arg)	Retinitis pigmentosa 59 [RCV001877500]	uncertain significance	1	26438247	26438247	Human	1	name
151743015	CV1385605	single nucleotide variant	NM_205861.3(DHDDS):c.293G>A (p.Arg98Gln)	Retinitis pigmentosa 59 [RCV002042422]	uncertain significance	1	26442843	26442843	Human	1	name
151726892	CV1416322	single nucleotide variant	NM_205861.3(DHDDS):c.139C>T (p.Arg47Trp)	Retinitis pigmentosa 59 [RCV001945640]\|Retinitis pigmentosa 59 [RCV002491927]	uncertain significance	1	26438243	26438243	Human	1	name
151758943	CV1443728	single nucleotide variant	NM_205861.3(DHDDS):c.208A>C (p.Ile70Leu)	Retinitis pigmentosa 59 [RCV001873012]	uncertain significance	1	26442758	26442758	Human	1	name
151725687	CV1462173	single nucleotide variant	NM_205861.3(DHDDS):c.112C>T (p.Arg38Cys)	Developmental delay and seizures with or without movement abnormalities [RCV003152785]\|Retinitis pigmentosa 59 [RCV001966556]\|not provided [RCV002255191]	pathogenic\|uncertain significance	1	26438216	26438216	Human	2	name
151888176	CV1468322	single nucleotide variant	NM_205861.3(DHDDS):c.254G>A (p.Arg85His)	Retinitis pigmentosa 59 [RCV002001034]	uncertain significance	1	26442804	26442804	Human	1	name
155690125	CV1775124	single nucleotide variant	NM_205861.3(DHDDS):c.148G>A (p.Gly50Ser)	Retinitis pigmentosa 59 [RCV002294840]	uncertain significance	1	26438252	26438252	Human	1	name
155741367	CV1779970	deletion	NM_205861.3(DHDDS):c.644del (p.Phe215fs)	Retinitis pigmentosa 59 [RCV002302574]	likely pathogenic	1	26457891	26457891	Human	1	name
155803188	CV1857984	single nucleotide variant	NM_205861.3(DHDDS):c.284A>G (p.Asp95Gly)	not provided [RCV002461834]	uncertain significance	1	26442834	26442834	Human		name
156404615	CV1883444	single nucleotide variant	NM_205861.3(DHDDS):c.251A>G (p.Lys84Arg)	Inborn genetic diseases [RCV004614345]\|Retinal dystrophy [RCV004818215]\|Retinitis pigmentosa 59 [RCV003069780]	uncertain significance	1	26442801	26442801	Human	4	name
156231441	CV1885142	single nucleotide variant	NM_205861.3(DHDDS):c.208A>G (p.Ile70Val)	DHDDS-related disorder [RCV004756462]\|Retinitis pigmentosa 59 [RCV003085382]	uncertain significance	1	26442758	26442758	Human	1	name , trait , alternate_id
156412173	CV1890390	single nucleotide variant	NM_205861.3(DHDDS):c.187C>T (p.Arg63Trp)	Retinitis pigmentosa 59 [RCV003072786]	uncertain significance	1	26442737	26442737	Human	1	name
156384536	CV1891586	single nucleotide variant	NM_205861.3(DHDDS):c.188G>A (p.Arg63Gln)	Retinitis pigmentosa 59 [RCV003067452]	uncertain significance	1	26442738	26442738	Human	1	name
156055726	CV1928724	single nucleotide variant	NM_205861.3(DHDDS):c.229G>A (p.Ala77Thr)	Inborn genetic diseases [RCV004614384]\|Retinal dystrophy [RCV004818237]\|Retinitis pigmentosa 59 [RCV002620761]	uncertain significance	1	26442779	26442779	Human	4	name
156296226	CV2111672	single nucleotide variant	NM_205861.3(DHDDS):c.144G>C (p.Gln48His)	Retinitis pigmentosa 59 [RCV002922361]	uncertain significance	1	26438248	26438248	Human	1	name
156310876	CV2165281	single nucleotide variant	NM_205861.3(DHDDS):c.230C>T (p.Ala77Val)	Retinitis pigmentosa 59 [RCV003028572]	uncertain significance	1	26442780	26442780	Human	1	name
156168675	CV2169775	single nucleotide variant	NM_205861.3(DHDDS):c.167A>G (p.Asn56Ser)	Retinitis pigmentosa 59 [RCV003023445]	uncertain significance	1	26438271	26438271	Human	1	name
156012758	CV2172385	deletion	NM_205861.3(DHDDS):c.772del (p.Arg258fs)	Retinitis pigmentosa 59 [RCV003035330]	uncertain significance	1	26468899	26468899	Human	1	name
243057432	CV2412045	single nucleotide variant	NM_205861.3(DHDDS):c.290C>T (p.Ala97Val)	not provided [RCV003146058]	uncertain significance	1	26442840	26442840	Human		name
11580078	CV268151	single nucleotide variant	NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln)	Retinitis pigmentosa 59 [RCV000886316]\|Retinitis pigmentosa [RCV000322201]\|not specified [RCV000297294]	likely benign\|uncertain significance	1	26438244	26438244	Human	3	name
401935491	CV2812509	single nucleotide variant	NM_205861.3(DHDDS):c.191G>A (p.Trp64Ter)	Retinitis pigmentosa 59 [RCV003525406]\|not provided [RCV003412947]	pathogenic\|uncertain significance	1	26442741	26442741	Human	1	name
11661276	CV282126	single nucleotide variant	NM_205861.3(DHDDS):c.157C>G (p.Gln53Glu)	Inborn genetic diseases [RCV005328241]\|Retinitis pigmentosa 59 [RCV003765737]\|Retinitis pigmentosa [RCV000374574]	uncertain significance	1	26438261	26438261	Human	4	name
405012924	CV2901030	single nucleotide variant	NM_205861.3(DHDDS):c.161G>T (p.Gly54Val)	Retinitis pigmentosa 59 [RCV003527439]	uncertain significance	1	26438265	26438265	Human	1	name
405196161	CV2976612	single nucleotide variant	NM_205861.3(DHDDS):c.110G>T (p.Arg37Leu)	Retinitis pigmentosa 59 [RCV003641502]	uncertain significance	1	26438214	26438214	Human	1	name
405188682	CV3021734	single nucleotide variant	NM_205861.3(DHDDS):c.103G>C (p.Gly35Arg)	Retinitis pigmentosa 59 [RCV003640545]	uncertain significance	1	26438207	26438207	Human	1	name
405201784	CV3058974	single nucleotide variant	NM_205861.3(DHDDS):c.155C>T (p.Ser52Leu)	Retinitis pigmentosa 59 [RCV003642137]	uncertain significance	1	26438259	26438259	Human	1	name
405048243	CV3141709	single nucleotide variant	NM_205861.3(DHDDS):c.257C>G (p.Ser86Cys)	Retinitis pigmentosa 59 [RCV003831810]	uncertain significance	1	26442807	26442807	Human	1	name
405246224	CV3162261	single nucleotide variant	NM_205861.3(DHDDS):c.125A>G (p.Lys42Arg)	Retinitis pigmentosa 59 [RCV003868780]	uncertain significance	1	26438229	26438229	Human	1	name
405263843	CV3188962	single nucleotide variant	NM_205861.3(DHDDS):c.170A>G (p.Lys57Arg)	Retinal dystrophy [RCV003890521]	uncertain significance	1	26438274	26438274	Human	2	name
596941493	CV3408214	single nucleotide variant	NM_205861.3(DHDDS):c.263G>A (p.Ser88Asn)	Retinal dystrophy [RCV004815885]	uncertain significance	1	26442813	26442813	Human	2	name
408386075	CV3415545	single nucleotide variant	NM_205861.3(DHDDS):c.102C>A (p.Asp34Glu)	Retinitis pigmentosa 59 [RCV004767646]	likely pathogenic	1	26438206	26438206	Human	1	name
408383577	CV3525797	single nucleotide variant	NM_205861.3(DHDDS):c.283G>A (p.Asp95Asn)	not specified [RCV004766707]	uncertain significance	1	26442833	26442833	Human		name
596946143	CV3550427	single nucleotide variant	NM_205861.3(DHDDS):c.262A>G (p.Ser88Gly)	Developmental delay and seizures with or without movement abnormalities [RCV004818968]	uncertain significance	1	26442812	26442812	Human	1	name
597865621	CV3834336	single nucleotide variant	NM_205861.3(DHDDS):c.132G>C (p.Gln44His)	Retinitis pigmentosa 59 [RCV005175704]	uncertain significance	1	26438236	26438236	Human	1	name
598126046	CV3886040	single nucleotide variant	NM_205861.3(DHDDS):c.205G>A (p.Gly69Ser)	not provided [RCV005241843]	uncertain significance	1	26442755	26442755	Human		name
8602305	CV39666	single nucleotide variant	NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	Retinitis pigmentosa 59 [RCV000023687]\|Retinitis pigmentosa 59 [RCV000762902]\|Retinitis pigmentosa [RCV000778978]\|not provided [RCV001354833]	pathogenic\|likely pathogenic	1	26438228	26438228	Human	3	name
13472901	CV442804	single nucleotide variant	NM_205861.3(DHDDS):c.110G>A (p.Arg37His)	Developmental delay and seizures with or without movement abnormalities [RCV000578122]\|Retinitis pigmentosa 59 [RCV001858011]\|not provided [RCV000519248]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	26438214	26438214	Human	2	name
13506352	CV481159	single nucleotide variant	NM_205861.3(DHDDS):c.192G>A (p.Trp64Ter)	Congenital disorder of glycosylation, type Ibb [RCV000578125]	pathogenic	1	26442742	26442742	Human	1	name
13705471	CV536585	single nucleotide variant	NM_205861.3(DHDDS):c.109C>A (p.Arg37Ser)	Retinitis pigmentosa 59 [RCV005091891]\|not provided [RCV000658018]	pathogenic\|uncertain significance	1	26438213	26438213	Human	1	name
13813687	CV557285	single nucleotide variant	NM_205861.3(DHDDS):c.271G>C (p.Asp91His)	Retinitis pigmentosa 59 [RCV000704528]	uncertain significance	1	26442821	26442821	Human	1	name
21074772	CV798469	single nucleotide variant	NM_205861.3(DHDDS):c.113G>A (p.Arg38His)	Developmental delay and seizures with or without movement abnormalities [RCV000995533]	pathogenic\|likely pathogenic	1	26438217	26438217	Human	1	name
21404997	CV800446	single nucleotide variant	NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp)	Retinal dystrophy [RCV003890158]\|Retinitis pigmentosa 59 [RCV001862719]\|Retinitis pigmentosa 59 [RCV002481804]\|Retinitis pigmentosa [RCV001003005]\|not specified [RCV004768773]	likely pathogenic\|uncertain significance	1	26442842	26442842	Human	5	name
40887169	CV973196	single nucleotide variant	NM_205861.3(DHDDS):c.104G>A (p.Gly35Glu)	Inborn genetic diseases [RCV001266622]\|Retinitis pigmentosa 59 [RCV001880122]\|not provided [RCV001577222]	pathogenic\|likely pathogenic\|uncertain significance	1	26438208	26438208	Human	2	name
126758484	CV1002728	single nucleotide variant	NM_205861.3(DHDDS):c.476G>A (p.Arg159His)	Retinitis pigmentosa 59 [RCV001317792]	uncertain significance	1	26447594	26447594	Human	1	name
126740208	CV1015704	single nucleotide variant	NM_205861.3(DHDDS):c.711T>G (p.Phe237Leu)	Developmental delay and seizures with or without movement abnormalities [RCV001329382]	uncertain significance	1	26460090	26460090	Human	1	name
126762893	CV1023202	single nucleotide variant	NM_205861.3(DHDDS):c.308G>A (p.Arg103His)	Developmental delay and seizures with or without movement abnormalities [RCV004783959]\|Retinitis pigmentosa 59 [RCV001341105]	uncertain significance	1	26442858	26442858	Human	2	name
126918822	CV1040052	single nucleotide variant	NM_205861.3(DHDDS):c.874G>A (p.Ala292Thr)	Inborn genetic diseases [RCV005330782]\|Retinitis pigmentosa 59 [RCV001372883]	uncertain significance	1	26469003	26469003	Human	2	name
127237894	CV1054020	single nucleotide variant	NM_205861.3(DHDDS):c.681C>G (p.Phe227Leu)	Retinitis pigmentosa 59 [RCV001376410]	uncertain significance	1	26460060	26460060	Human	1	name
150438786	CV1286944	single nucleotide variant	NM_205861.3(DHDDS):c.616A>G (p.Thr206Ala)	Retinitis pigmentosa 59 [RCV002227538]\|Retinitis pigmentosa [RCV001724859]	likely pathogenic\|benign	1	26457864	26457864	Human	3	name
150546782	CV1291658	single nucleotide variant	NM_205861.3(DHDDS):c.802C>T (p.Gln268Ter)	Retinitis pigmentosa 59 [RCV005023217]\|not specified [RCV001733406]	likely pathogenic\|uncertain significance	1	26468931	26468931	Human	1	name
151349509	CV1324397	single nucleotide variant	NM_205861.3(DHDDS):c.517G>A (p.Val173Met)	Developmental delay and seizures with or without movement abnormalities [RCV001808842]\|Retinitis pigmentosa 59 [RCV002541472]	uncertain significance	1	26447635	26447635	Human	2	name
151816160	CV1342079	single nucleotide variant	NM_205861.3(DHDDS):c.709T>C (p.Phe237Leu)	Retinitis pigmentosa 59 [RCV001975273]	uncertain significance	1	26460088	26460088	Human	1	name
151831320	CV1343615	single nucleotide variant	NM_205861.3(DHDDS):c.475C>T (p.Arg159Cys)	Retinitis pigmentosa 59 [RCV001920520]	uncertain significance	1	26447593	26447593	Human	1	name
151784165	CV1344016	single nucleotide variant	NM_205861.3(DHDDS):c.390T>G (p.Asp130Glu)	Retinitis pigmentosa 59 [RCV002046439]	uncertain significance	1	26446382	26446382	Human	1	name
151787618	CV1345776	single nucleotide variant	NM_205861.3(DHDDS):c.793C>T (p.Arg265Trp)	Inborn genetic diseases [RCV004041346]\|Retinitis pigmentosa 59 [RCV001897859]	uncertain significance	1	26468922	26468922	Human	2	name
151828928	CV1348348	single nucleotide variant	NM_205861.3(DHDDS):c.447C>A (p.Phe149Leu)	Retinitis pigmentosa 59 [RCV001870339]	uncertain significance	1	26447565	26447565	Human	1	name
151785775	CV1348830	single nucleotide variant	NM_205861.3(DHDDS):c.425C>G (p.Thr142Arg)	Retinitis pigmentosa 59 [RCV001897671]	uncertain significance	1	26446417	26446417	Human	1	name
151725382	CV1356590	single nucleotide variant	NM_205861.3(DHDDS):c.587G>A (p.Arg196His)	Retinitis pigmentosa 59 [RCV001910268]\|not provided [RCV004691467]	uncertain significance	1	26457835	26457835	Human	1	name
151858184	CV1360126	single nucleotide variant	NM_205861.3(DHDDS):c.411A>C (p.Gln137His)	Retinitis pigmentosa 59 [RCV001904951]	uncertain significance	1	26446403	26446403	Human	1	name
151729366	CV1388809	single nucleotide variant	NM_205861.3(DHDDS):c.512G>T (p.Trp171Leu)	Retinitis pigmentosa 59 [RCV001966946]	uncertain significance	1	26447630	26447630	Human	1	name
151825209	CV1392048	single nucleotide variant	NM_205861.3(DHDDS):c.691C>G (p.Leu231Val)	Retinitis pigmentosa 59 [RCV001879590]	uncertain significance	1	26460070	26460070	Human	1	name
151866046	CV1392845	single nucleotide variant	NM_205861.3(DHDDS):c.688G>A (p.Val230Ile)	Inborn genetic diseases [RCV004041918]\|Retinitis pigmentosa 59 [RCV001939171]\|not provided [RCV003146376]	uncertain significance	1	26460067	26460067	Human	2	name
151827376	CV1396353	single nucleotide variant	NM_205861.3(DHDDS):c.722T>G (p.Phe241Cys)	Retinitis pigmentosa 59 [RCV001934713]	uncertain significance	1	26460101	26460101	Human	1	name
151791859	CV1398565	single nucleotide variant	NM_205861.3(DHDDS):c.419A>G (p.Gln140Arg)	Retinitis pigmentosa 59 [RCV002010779]	uncertain significance	1	26446411	26446411	Human	1	name
151772703	CV1414235	single nucleotide variant	NM_205861.3(DHDDS):c.547A>C (p.Ile183Leu)	Retinitis pigmentosa 59 [RCV001874607]	uncertain significance	1	26457795	26457795	Human	1	name
151842266	CV1423926	single nucleotide variant	NM_205861.3(DHDDS):c.822G>C (p.Gln274His)	Retinitis pigmentosa 59 [RCV001977841]	uncertain significance	1	26468951	26468951	Human	1	name
151775615	CV1424285	single nucleotide variant	NM_205861.3(DHDDS):c.425C>T (p.Thr142Met)	Retinitis pigmentosa 59 [RCV002025779]\|not specified [RCV005406265]	uncertain significance	1	26446417	26446417	Human	1	name
151749006	CV1431063	single nucleotide variant	NM_205861.3(DHDDS):c.979C>T (p.Arg327Cys)	Retinal dystrophy [RCV003888391]\|Retinitis pigmentosa 59 [RCV001912779]	uncertain significance	1	26469108	26469108	Human	3	name
151794272	CV1434244	single nucleotide variant	NM_205861.3(DHDDS):c.866G>T (p.Ser289Ile)	Retinitis pigmentosa 59 [RCV001866533]	uncertain significance	1	26468995	26468995	Human	1	name
151725490	CV1437297	single nucleotide variant	NM_205861.3(DHDDS):c.916C>T (p.Arg306Trp)	Retinitis pigmentosa 59 [RCV002004206]	uncertain significance	1	26469045	26469045	Human	1	name
151775989	CV1440263	single nucleotide variant	NM_205861.3(DHDDS):c.668C>G (p.Ser223Cys)	Retinitis pigmentosa 59 [RCV001874906]	uncertain significance	1	26460047	26460047	Human	1	name
151774487	CV1440612	single nucleotide variant	NM_205861.3(DHDDS):c.714G>A (p.Trp238Ter)	Retinitis pigmentosa 59 [RCV001896662]	pathogenic	1	26460093	26460093	Human	1	name
151806446	CV1440860	single nucleotide variant	NM_205861.3(DHDDS):c.350G>C (p.Cys117Ser)	Retinitis pigmentosa 59 [RCV001932784]	uncertain significance	1	26446342	26446342	Human	1	name
151767884	CV1445242	single nucleotide variant	NM_205861.3(DHDDS):c.404T>C (p.Ile135Thr)	Retinitis pigmentosa 59 [RCV002025074]	uncertain significance	1	26446396	26446396	Human	1	name
151800625	CV1474872	single nucleotide variant	NM_205861.3(DHDDS):c.733C>G (p.Leu245Val)	Retinitis pigmentosa 59 [RCV001952889]	uncertain significance	1	26460112	26460112	Human	1	name
151832158	CV1480360	single nucleotide variant	NM_205861.3(DHDDS):c.440A>G (p.Lys147Arg)	Retinitis pigmentosa 59 [RCV001935164]\|Retinitis pigmentosa 59 [RCV002490227]	uncertain significance	1	26446432	26446432	Human	1	name
151766145	CV1495954	single nucleotide variant	NM_205861.3(DHDDS):c.323A>G (p.Lys108Arg)	Inborn genetic diseases [RCV002545776]\|Retinitis pigmentosa 59 [RCV001863625]	uncertain significance	1	26442873	26442873	Human	2	name
151761905	CV1496513	single nucleotide variant	NM_205861.3(DHDDS):c.744G>C (p.Gln248His)	Retinitis pigmentosa 59 [RCV001895424]	uncertain significance	1	26460123	26460123	Human	1	name
151720067	CV1505984	single nucleotide variant	NM_205861.3(DHDDS):c.565G>A (p.Asp189Asn)	Inborn genetic diseases [RCV002547894]\|Retinal dystrophy [RCV004815660]\|Retinitis pigmentosa 59 [RCV002039943]\|not provided [RCV003883711]	likely benign\|uncertain significance	1	26457813	26457813	Human	4	name
151796306	CV1512650	single nucleotide variant	NM_205861.3(DHDDS):c.590C>G (p.Ser197Cys)	Retinitis pigmentosa 59 [RCV001866712]	uncertain significance	1	26457838	26457838	Human	1	name
152980462	CV1678623	single nucleotide variant	NM_205861.3(DHDDS):c.438C>G (p.Asn146Lys)	not specified [RCV002247131]	uncertain significance	1	26446430	26446430	Human		name
153000542	CV1683124	single nucleotide variant	NM_205861.3(DHDDS):c.761T>C (p.Leu254Pro)	Inborn genetic diseases [RCV004047385]\|Retinal dystrophy [RCV004816988]\|Retinitis pigmentosa 59 [RCV003101379]\|See cases [RCV002253134]	uncertain significance	1	26460140	26460140	Human	4	name
155641772	CV1707130	single nucleotide variant	NM_205861.3(DHDDS):c.772C>T (p.Arg258Ter)	not provided [RCV002288060]	uncertain significance	1	26468901	26468901	Human		name
155675395	CV1771699	single nucleotide variant	NM_205861.3(DHDDS):c.945G>C (p.Gln315His)	Retinitis pigmentosa 59 [RCV002297748]	uncertain significance	1	26469074	26469074	Human	1	name
156375723	CV1868686	single nucleotide variant	NM_205861.3(DHDDS):c.856C>A (p.Leu286Ile)	Retinal dystrophy [RCV003889217]\|Retinitis pigmentosa 59 [RCV003066702]	uncertain significance	1	26468985	26468985	Human	3	name
156408511	CV1870100	single nucleotide variant	NM_205861.3(DHDDS):c.356G>A (p.Arg119Gln)	Inborn genetic diseases [RCV005333459]\|Retinitis pigmentosa 59 [RCV003071296]	uncertain significance	1	26446348	26446348	Human	2	name
156112766	CV1871098	single nucleotide variant	NM_205861.3(DHDDS):c.979C>G (p.Arg327Gly)	Retinitis pigmentosa 59 [RCV003081116]	uncertain significance	1	26469108	26469108	Human	1	name
156343954	CV1871545	single nucleotide variant	NM_205861.3(DHDDS):c.750C>A (p.Asn250Lys)	Inborn genetic diseases [RCV004978501]\|Retinitis pigmentosa 59 [RCV003064406]	uncertain significance	1	26460129	26460129	Human	2	name
156409684	CV1881516	single nucleotide variant	NM_205861.3(DHDDS):c.995C>G (p.Ser332Ter)	Retinitis pigmentosa 59 [RCV003071773]	uncertain significance	1	26469124	26469124	Human	1	name
156049024	CV1884281	single nucleotide variant	NM_205861.3(DHDDS):c.628G>A (p.Val210Met)	Retinitis pigmentosa 59 [RCV003078801]	uncertain significance	1	26457876	26457876	Human	1	name
156405813	CV1884634	single nucleotide variant	NM_205861.3(DHDDS):c.773G>A (p.Arg258Gln)	Retinitis pigmentosa 59 [RCV003070142]	uncertain significance	1	26468902	26468902	Human	1	name
156412831	CV1886958	single nucleotide variant	NM_205861.3(DHDDS):c.764A>G (p.Gln255Arg)	Retinitis pigmentosa 59 [RCV003073051]	uncertain significance	1	26460143	26460143	Human	1	name
156270412	CV1899376	single nucleotide variant	NM_205861.3(DHDDS):c.496G>C (p.Val166Leu)	Retinitis pigmentosa 59 [RCV003086760]	uncertain significance	1	26447614	26447614	Human	1	name
156413774	CV1901081	single nucleotide variant	NM_205861.3(DHDDS):c.586C>T (p.Arg196Cys)	Retinitis pigmentosa 59 [RCV002588266]	uncertain significance	1	26457834	26457834	Human	1	name
156302604	CV1902218	single nucleotide variant	NM_205861.3(DHDDS):c.873C>A (p.Asp291Glu)	Retinitis pigmentosa 59 [RCV003088007]	uncertain significance	1	26469002	26469002	Human	1	name
156339666	CV1902569	single nucleotide variant	NM_205861.3(DHDDS):c.946G>A (p.Ala316Thr)	Inborn genetic diseases [RCV004978587]\|Retinitis pigmentosa 59 [RCV003090287]	uncertain significance	1	26469075	26469075	Human	2	name
156416368	CV1905024	single nucleotide variant	NM_205861.3(DHDDS):c.893G>A (p.Arg298His)	Retinitis pigmentosa 59 [RCV002610139]\|not provided [RCV003410098]	likely benign\|uncertain significance	1	26469022	26469022	Human	1	name
156378638	CV1906989	single nucleotide variant	NM_205861.3(DHDDS):c.961C>T (p.Arg321Ter)	Retinitis pigmentosa 59 [RCV003093088]	uncertain significance	1	26469090	26469090	Human	1	name
156024439	CV1922322	single nucleotide variant	NM_205861.3(DHDDS):c.373C>T (p.His125Tyr)	Retinitis pigmentosa 59 [RCV002636869]	uncertain significance	1	26446365	26446365	Human	1	name
156292589	CV1926591	single nucleotide variant	NM_205861.3(DHDDS):c.989C>A (p.Thr330Asn)	Retinitis pigmentosa 59 [RCV002628876]	uncertain significance	1	26469118	26469118	Human	1	name
156305252	CV1931290	single nucleotide variant	NM_205861.3(DHDDS):c.377T>C (p.Leu126Ser)	Retinitis pigmentosa 59 [RCV002647853]	uncertain significance	1	26446369	26446369	Human	1	name
156298944	CV1932751	single nucleotide variant	NM_205861.3(DHDDS):c.792G>C (p.Glu264Asp)	Retinitis pigmentosa 59 [RCV002647540]	uncertain significance	1	26468921	26468921	Human	1	name
156302259	CV1955641	single nucleotide variant	NM_205861.3(DHDDS):c.566A>G (p.Asp189Gly)	Inborn genetic diseases [RCV002578278]\|Retinitis pigmentosa 59 [RCV002578279]	uncertain significance	1	26457814	26457814	Human	2	name
156139040	CV2006517	single nucleotide variant	NM_205861.3(DHDDS):c.443G>A (p.Cys148Tyr)	Retinitis pigmentosa 59 [RCV002663498]	uncertain significance	1	26447561	26447561	Human	1	name
156277756	CV2011342	single nucleotide variant	NM_205861.3(DHDDS):c.580A>G (p.Thr194Ala)	Inborn genetic diseases [RCV004066939]\|Retinitis pigmentosa 59 [RCV002715194]	uncertain significance	1	26457828	26457828	Human	2	name
156278422	CV2011436	single nucleotide variant	NM_205861.3(DHDDS):c.513G>C (p.Trp171Cys)	Retinitis pigmentosa 59 [RCV002715216]	uncertain significance	1	26447631	26447631	Human	1	name
156366972	CV2020978	single nucleotide variant	NM_205861.3(DHDDS):c.364G>A (p.Gly122Ser)	Retinitis pigmentosa 59 [RCV002721248]	uncertain significance	1	26446356	26446356	Human	1	name
156124798	CV2021211	single nucleotide variant	NM_205861.3(DHDDS):c.445T>C (p.Phe149Leu)	Retinitis pigmentosa 59 [RCV002740337]	uncertain significance	1	26447563	26447563	Human	1	name
156130853	CV2036553	single nucleotide variant	NM_205861.3(DHDDS):c.851A>G (p.Glu284Gly)	Retinitis pigmentosa 59 [RCV002786162]	uncertain significance	1	26468980	26468980	Human	1	name
156093545	CV2054602	single nucleotide variant	NM_205861.3(DHDDS):c.513G>A (p.Trp171Ter)	Retinitis pigmentosa 59 [RCV002824280]	pathogenic\|likely pathogenic	1	26447631	26447631	Human	1	name
156235108	CV2056242	single nucleotide variant	NM_205861.3(DHDDS):c.898C>T (p.His300Tyr)	Retinitis pigmentosa 59 [RCV002791142]	uncertain significance	1	26469027	26469027	Human	1	name
156105558	CV2061197	single nucleotide variant	NM_205861.3(DHDDS):c.565G>C (p.Asp189His)	Retinitis pigmentosa 59 [RCV002824715]	uncertain significance	1	26457813	26457813	Human	1	name
156227508	CV2081176	single nucleotide variant	NM_205861.3(DHDDS):c.613C>T (p.Arg205Trp)	Retinitis pigmentosa 59 [RCV002853445]	uncertain significance	1	26457861	26457861	Human	1	name
156211910	CV2103344	single nucleotide variant	NM_205861.3(DHDDS):c.367G>A (p.Asp123Asn)	DHDDS-related disorder [RCV003403947]\|Inborn genetic diseases [RCV002918196]\|Retinal dystrophy [RCV003889179]\|Retinitis pigmentosa 59 [RCV002918195]	uncertain significance	1	26446359	26446359	Human	4	name , trait , alternate_id
156111487	CV2104405	single nucleotide variant	NM_205861.3(DHDDS):c.883C>T (p.Arg295Ter)	Retinitis pigmentosa 59 [RCV002927450]	uncertain significance	1	26469012	26469012	Human	1	name
156018185	CV2120686	single nucleotide variant	NM_205861.3(DHDDS):c.884G>A (p.Arg295Gln)	Retinitis pigmentosa 59 [RCV002976013]	uncertain significance	1	26469013	26469013	Human	1	name
156281711	CV2133854	single nucleotide variant	NM_205861.3(DHDDS):c.623G>A (p.Gly208Glu)	Retinitis pigmentosa 59 [RCV003009624]	uncertain significance	1	26457871	26457871	Human	1	name
156294466	CV2162507	single nucleotide variant	NM_205861.3(DHDDS):c.717C>G (p.Asn239Lys)	Retinitis pigmentosa 59 [RCV003045275]	uncertain significance	1	26460096	26460096	Human	1	name
156254636	CV2162878	single nucleotide variant	NM_205861.3(DHDDS):c.314T>C (p.Met105Thr)	Retinitis pigmentosa 59 [RCV003026457]	uncertain significance	1	26442864	26442864	Human	1	name
156172774	CV2166121	single nucleotide variant	NM_205861.3(DHDDS):c.776A>G (p.Asp259Gly)	Retinitis pigmentosa 59 [RCV003023566]	uncertain significance	1	26468905	26468905	Human	1	name
156287760	CV2172384	single nucleotide variant	NM_205861.3(DHDDS):c.550T>G (p.Ser184Ala)	Retinitis pigmentosa 59 [RCV003027555]	uncertain significance	1	26457798	26457798	Human	1	name
156339374	CV2179655	single nucleotide variant	NM_205861.3(DHDDS):c.496G>A (p.Val166Met)	Retinitis pigmentosa 59 [RCV003030201]	uncertain significance	1	26447614	26447614	Human	1	name
155921931	CV2284228	single nucleotide variant	NM_205861.3(DHDDS):c.479A>G (p.His160Arg)	Inborn genetic diseases [RCV002859785]\|Retinitis pigmentosa 59 [RCV005099756]	uncertain significance	1	26447597	26447597	Human	2	name
243057411	CV2412041	single nucleotide variant	NM_205861.3(DHDDS):c.944A>G (p.Gln315Arg)	not provided [RCV003146054]	uncertain significance	1	26469073	26469073	Human		name
243057418	CV2412042	single nucleotide variant	NM_205861.3(DHDDS):c.685C>A (p.Pro229Thr)	not provided [RCV003146055]	uncertain significance	1	26460064	26460064	Human		name
329395805	CV2454615	single nucleotide variant	NM_205861.3(DHDDS):c.790G>A (p.Glu264Lys)	Inborn genetic diseases [RCV003194649]	uncertain significance	1	26468919	26468919	Human	1	name
401742160	CV2738903	single nucleotide variant	NM_205861.3(DHDDS):c.850G>T (p.Glu284Ter)	not provided [RCV003318297]	uncertain significance	1	26468979	26468979	Human		name
401798560	CV2742482	single nucleotide variant	NM_205861.3(DHDDS):c.925C>T (p.Arg309Ter)	not provided [RCV003324926]	likely pathogenic	1	26469054	26469054	Human		name
401903223	CV2802629	single nucleotide variant	NM_205861.3(DHDDS):c.638G>A (p.Ser213Asn)	DHDDS-related disorder [RCV003394394]	likely pathogenic	1	26457886	26457886	Human		name , trait , alternate_id
11581530	CV280332	single nucleotide variant	NM_205861.3(DHDDS):c.757G>A (p.Val253Met)	Developmental delay and seizures with or without movement abnormalities [RCV001537673]\|Retinal dystrophy [RCV003888701]\|Retinitis pigmentosa 59 [RCV001277164]\|Retinitis pigmentosa [RCV000373487]\|not provided [RCV000838160]	benign	1	26460136	26460136	Human	6	name
11581032	CV280703	single nucleotide variant	NM_205861.3(DHDDS):c.845T>C (p.Leu282Pro)	Retinitis pigmentosa 59 [RCV003640886]\|Retinitis pigmentosa [RCV000352641]	uncertain significance	1	26468974	26468974	Human	3	name
11654316	CV282004	single nucleotide variant	NM_205861.3(DHDDS):c.710T>G (p.Phe237Cys)	Retinitis pigmentosa [RCV000316405]	uncertain significance	1	26460089	26460089	Human	2	name
11581835	CV282005	single nucleotide variant	NM_205861.3(DHDDS):c.917G>A (p.Arg306Gln)	Retinitis pigmentosa 59 [RCV002520485]\|Retinitis pigmentosa [RCV000386265]	uncertain significance	1	26469046	26469046	Human	3	name
11650867	CV282127	single nucleotide variant	NM_205861.3(DHDDS):c.775G>A (p.Asp259Asn)	Retinitis pigmentosa [RCV000295404]	uncertain significance	1	26468904	26468904	Human	2	name
401940267	CV2832553	single nucleotide variant	NM_205861.3(DHDDS):c.698C>G (p.Pro233Arg)	Developmental delay and seizures with or without movement abnormalities [RCV003448533]\|Retinitis pigmentosa 59 [RCV003525415]	pathogenic	1	26460077	26460077	Human	2	name
401947244	CV2834074	single nucleotide variant	NM_205861.3(DHDDS):c.705T>A (p.Tyr235Ter)	Retinitis pigmentosa 59 [RCV003466162]	likely pathogenic	1	26460084	26460084	Human	1	name
401940763	CV2834075	single nucleotide variant	NM_205861.3(DHDDS):c.568A>T (p.Lys190Ter)	Retinitis pigmentosa 59 [RCV003459959]	likely pathogenic	1	26457816	26457816	Human	1	name
404995702	CV2862746	single nucleotide variant	NM_205861.3(DHDDS):c.620C>G (p.Ser207Cys)	Retinitis pigmentosa 59 [RCV003525622]	uncertain significance	1	26457868	26457868	Human	1	name
404994317	CV2864482	single nucleotide variant	NM_205861.3(DHDDS):c.839A>C (p.Gln280Pro)	Retinitis pigmentosa 59 [RCV003525482]	uncertain significance	1	26468968	26468968	Human	1	name
405009161	CV2883489	single nucleotide variant	NM_205861.3(DHDDS):c.946G>T (p.Ala316Ser)	Retinitis pigmentosa 59 [RCV003527076]	uncertain significance	1	26469075	26469075	Human	1	name
405009674	CV2883693	single nucleotide variant	NM_205861.3(DHDDS):c.305G>A (p.Ser102Asn)	Retinitis pigmentosa 59 [RCV003527125]	uncertain significance	1	26442855	26442855	Human	1	name
405013921	CV2912506	single nucleotide variant	NM_205861.3(DHDDS):c.559C>G (p.Leu187Val)	Retinitis pigmentosa 59 [RCV003527534]	uncertain significance	1	26457807	26457807	Human	1	name
405193221	CV2943862	single nucleotide variant	NM_205861.3(DHDDS):c.328A>G (p.Lys110Glu)	Retinitis pigmentosa 59 [RCV003641131]	uncertain significance	1	26446320	26446320	Human	1	name
405194431	CV2954489	single nucleotide variant	NM_205861.3(DHDDS):c.853G>A (p.Gly285Arg)	Retinitis pigmentosa 59 [RCV003641270]	uncertain significance	1	26468982	26468982	Human	1	name
405196173	CV2969775	single nucleotide variant	NM_205861.3(DHDDS):c.571T>C (p.Cys191Arg)	Retinitis pigmentosa 59 [RCV003641504]\|not provided [RCV004780606]	uncertain significance	1	26457819	26457819	Human	1	name
405197299	CV2980193	single nucleotide variant	NM_205861.3(DHDDS):c.842T>C (p.Leu281Pro)	Inborn genetic diseases [RCV004980917]\|Retinitis pigmentosa 59 [RCV003641671]	uncertain significance	1	26468971	26468971	Human	2	name
405198151	CV2996492	single nucleotide variant	NM_205861.3(DHDDS):c.857T>C (p.Leu286Pro)	Retinitis pigmentosa 59 [RCV003641796]	uncertain significance	1	26468986	26468986	Human	1	name
405198577	CV3011639	single nucleotide variant	NM_205861.3(DHDDS):c.898C>A (p.His300Asn)	Retinitis pigmentosa 59 [RCV003641856]	uncertain significance	1	26469027	26469027	Human	1	name
405188703	CV3021894	single nucleotide variant	NM_205861.3(DHDDS):c.869G>C (p.Gly290Ala)	Retinitis pigmentosa 59 [RCV003640548]	uncertain significance	1	26468998	26468998	Human	1	name
405200268	CV3068254	single nucleotide variant	NM_205861.3(DHDDS):c.962G>C (p.Arg321Pro)	Retinitis pigmentosa 59 [RCV003642076]	uncertain significance	1	26469091	26469091	Human	1	name
405201602	CV3076399	single nucleotide variant	NM_205861.3(DHDDS):c.502G>C (p.Glu168Gln)	Inborn genetic diseases [RCV004374298]\|Retinitis pigmentosa 59 [RCV003642263]	uncertain significance	1	26447620	26447620	Human	2	name
405159416	CV3152916	single nucleotide variant	NM_205861.3(DHDDS):c.756C>A (p.Ser252Arg)	Retinitis pigmentosa 59 [RCV003840651]	uncertain significance	1	26460135	26460135	Human	1	name
405203460	CV3165210	single nucleotide variant	NM_205861.3(DHDDS):c.514G>C (p.Gly172Arg)	Retinitis pigmentosa 59 [RCV003861071]	uncertain significance	1	26447632	26447632	Human	1	name
405263862	CV3188974	single nucleotide variant	NM_205861.3(DHDDS):c.494C>T (p.Ala165Val)	Retinal dystrophy [RCV003890533]	uncertain significance	1	26447612	26447612	Human	2	name
405263869	CV3188978	single nucleotide variant	NM_205861.3(DHDDS):c.684A>C (p.Gln228His)	Retinal dystrophy [RCV003890537]	uncertain significance	1	26460063	26460063	Human	2	name
405263881	CV3188985	single nucleotide variant	NM_205861.3(DHDDS):c.736C>T (p.Gln246Ter)	Retinal dystrophy [RCV003890544]	likely pathogenic	1	26460115	26460115	Human	2	name
405263909	CV3189001	single nucleotide variant	NM_205861.3(DHDDS):c.969C>A (p.Asp323Glu)	Retinal dystrophy [RCV003890560]	uncertain significance	1	26469098	26469098	Human	2	name
405682081	CV3246971	single nucleotide variant	NM_205861.3(DHDDS):c.306C>A (p.Ser102Arg)	Inborn genetic diseases [RCV004371367]	uncertain significance	1	26442856	26442856	Human	1	name
408385950	CV3520437	single nucleotide variant	NM_205861.3(DHDDS):c.750C>G (p.Asn250Lys)	not provided [RCV004760258]	uncertain significance	1	26460129	26460129	Human		name
596938373	CV3550217	single nucleotide variant	NM_205861.3(DHDDS):c.991G>C (p.Ala331Pro)	Retinitis pigmentosa 59 [RCV004813519]	uncertain significance	1	26469120	26469120	Human	1	name
597657825	CV3655661	single nucleotide variant	NM_205861.3(DHDDS):c.415G>A (p.Val139Ile)	Inborn genetic diseases [RCV004976792]\|Retinitis pigmentosa 59 [RCV005061702]	uncertain significance	1	26446407	26446407	Human	2	name
597833403	CV3734976	single nucleotide variant	NM_205861.3(DHDDS):c.713G>A (p.Trp238Ter)	not provided [RCV005054709]	uncertain significance	1	26460092	26460092	Human		name
597970244	CV3750186	single nucleotide variant	NM_205861.3(DHDDS):c.778A>G (p.Met260Val)	Retinitis pigmentosa 59 [RCV005084127]	uncertain significance	1	26468907	26468907	Human	1	name
597940740	CV3757273	single nucleotide variant	NM_205861.3(DHDDS):c.505A>T (p.Met169Leu)	Retinitis pigmentosa 59 [RCV005077458]	uncertain significance	1	26447623	26447623	Human	1	name
597942934	CV3757900	single nucleotide variant	NM_205861.3(DHDDS):c.907T>C (p.Ser303Pro)	Retinitis pigmentosa 59 [RCV005077899]	uncertain significance	1	26469036	26469036	Human	1	name
597913519	CV3778719	single nucleotide variant	NM_205861.3(DHDDS):c.631C>T (p.Arg211Trp)	Retinitis pigmentosa 59 [RCV005129064]	uncertain significance	1	26457879	26457879	Human	1	name
597969843	CV3791730	single nucleotide variant	NM_205861.3(DHDDS):c.697C>T (p.Pro233Ser)	Retinitis pigmentosa 59 [RCV005141547]	uncertain significance	1	26460076	26460076	Human	1	name
597850939	CV3824645	single nucleotide variant	NM_205861.3(DHDDS):c.982C>A (p.Leu328Met)	Retinitis pigmentosa 59 [RCV005173684]	uncertain significance	1	26469111	26469111	Human	1	name
597835039	CV3828104	single nucleotide variant	NM_205861.3(DHDDS):c.545A>G (p.Asp182Gly)	Retinitis pigmentosa 59 [RCV005170996]\|not provided [RCV005250398]	uncertain significance	1	26457793	26457793	Human	1	name
597845293	CV3880395	single nucleotide variant	NM_205861.3(DHDDS):c.869G>A (p.Gly290Glu)	not provided [RCV005227283]	uncertain significance	1	26468998	26468998	Human		name
598216601	CV3895218	single nucleotide variant	NM_205861.3(DHDDS):c.985G>A (p.Gly329Ser)	DHDDS-CDG [RCV005360123]	uncertain significance	1	26469114	26469114	Human	1	name , trait
598161812	CV3953014	single nucleotide variant	NM_205861.3(DHDDS):c.631C>G (p.Arg211Gly)	Inborn genetic diseases [RCV005329049]	likely pathogenic	1	26457879	26457879	Human	1	name
13506350	CV481158	single nucleotide variant	NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln)	Developmental delay and seizures with or without movement abnormalities [RCV000578123]\|Retinitis pigmentosa 59 [RCV001853833]\|not provided [RCV001172209]	pathogenic	1	26457880	26457880	Human	2	name
13815546	CV557287	single nucleotide variant	NM_205861.3(DHDDS):c.614G>A (p.Arg205Gln)	Developmental delay and seizures with or without movement abnormalities [RCV002233230]\|Retinitis pigmentosa 59 [RCV000691673]\|not provided [RCV001539674]	pathogenic\|likely pathogenic	1	26457862	26457862	Human	2	name
13836279	CV587550	single nucleotide variant	NM_205861.3(DHDDS):c.592C>T (p.Pro198Ser)	Retinitis pigmentosa 59 [RCV001855771]\|not provided [RCV000732348]	uncertain significance	1	26457840	26457840	Human	1	name
14705032	CV627740	single nucleotide variant	NM_205861.3(DHDDS):c.893G>C (p.Arg298Pro)	Retinitis pigmentosa 59 [RCV000799535]\|Retinitis pigmentosa [RCV001099448]\|not provided [RCV003144612]	uncertain significance	1	26469022	26469022	Human	3	name
14703963	CV627741	single nucleotide variant	NM_205861.3(DHDDS):c.980G>A (p.Arg327His)	Inborn genetic diseases [RCV002537009]\|Retinitis pigmentosa 59 [RCV000795814]	uncertain significance	1	26469109	26469109	Human	2	name
15167675	CV732351	single nucleotide variant	NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu)	DHDDS-related disorder [RCV003932889]\|Inborn genetic diseases [RCV002540223]\|Retinal dystrophy [RCV003890042]\|Retinitis pigmentosa 59 [RCV000904699]\|Retinitis pigmentosa [RCV001099449]\|not provided [RCV001355627]\|not specified [RCV001532941]	benign\|likely benign\|uncertain significance	1	26469037	26469037	Human	6	name , trait , alternate_id
21068931	CV788736	single nucleotide variant	NM_205861.3(DHDDS):c.724G>A (p.Glu242Lys)	Retinitis pigmentosa 59 [RCV000985124]\|not provided [RCV003145244]\|not specified [RCV004702550]	likely pathogenic\|uncertain significance	1	26460103	26460103	Human	1	name
26906537	CV823865	single nucleotide variant	NM_205861.3(DHDDS):c.307C>T (p.Arg103Cys)	Retinitis pigmentosa 59 [RCV001051780]	uncertain significance	1	26442857	26442857	Human	1	name
26887356	CV823866	single nucleotide variant	NM_205861.3(DHDDS):c.706A>T (p.Thr236Ser)	Retinitis pigmentosa 59 [RCV001044811]	uncertain significance	1	26460085	26460085	Human	1	name
26901867	CV823867	single nucleotide variant	NM_205861.3(DHDDS):c.892C>T (p.Arg298Cys)	Inborn genetic diseases [RCV004031556]\|Retinitis pigmentosa 59 [RCV001050034]	uncertain significance	1	26469021	26469021	Human	2	name
26922701	CV823868	single nucleotide variant	NM_205861.3(DHDDS):c.919G>C (p.Glu307Gln)	Retinitis pigmentosa 59 [RCV001062572]	uncertain significance	1	26469048	26469048	Human	1	name
28884019	CV864266	single nucleotide variant	NM_205861.3(DHDDS):c.794G>A (p.Arg265Gln)	Retinitis pigmentosa 59 [RCV005093471]\|Retinitis pigmentosa [RCV001097675]	uncertain significance	1	26468923	26468923	Human	3	name
34891826	CV904392	single nucleotide variant	NM_205861.3(DHDDS):c.518T>C (p.Val173Ala)	not provided [RCV001172208]	uncertain significance	1	26447636	26447636	Human		name
38463092	CV918628	single nucleotide variant	NM_205861.3(DHDDS):c.584A>C (p.Asn195Thr)	Retinitis pigmentosa 59 [RCV001198629]	uncertain significance	1	26457832	26457832	Human	1	name
38483516	CV930460	single nucleotide variant	NM_205861.3(DHDDS):c.299A>C (p.Lys100Thr)	Retinitis pigmentosa 59 [RCV001207675]	uncertain significance	1	26442849	26442849	Human	1	name
38457965	CV930461	single nucleotide variant	NM_205861.3(DHDDS):c.491A>G (p.Asn164Ser)	Retinitis pigmentosa 59 [RCV001211277]	uncertain significance	1	26447609	26447609	Human	1	name
38480641	CV930462	single nucleotide variant	NM_205861.3(DHDDS):c.848G>A (p.Arg283Gln)	Retinitis pigmentosa 59 [RCV001206509]	uncertain significance	1	26468977	26468977	Human	1	name
38485141	CV941910	single nucleotide variant	NM_205861.3(DHDDS):c.904C>T (p.Leu302Phe)	Retinitis pigmentosa 59 [RCV001236635]	uncertain significance	1	26469033	26469033	Human	1	name
38491700	CV952383	single nucleotide variant	NM_205861.3(DHDDS):c.339G>C (p.Lys113Asn)	Inborn genetic diseases [RCV005328643]\|Retinitis pigmentosa 59 [RCV001239613]	uncertain significance	1	26446331	26446331	Human	2	name
38458380	CV952384	single nucleotide variant	NM_205861.3(DHDDS):c.604A>G (p.Ile202Val)	Retinitis pigmentosa 59 [RCV001246321]	uncertain significance	1	26457852	26457852	Human	1	name
38469255	CV952385	single nucleotide variant	NM_205861.3(DHDDS):c.817G>A (p.Asp273Asn)	Retinitis pigmentosa 59 [RCV001248180]	uncertain significance	1	26468946	26468946	Human	1	name
38469405	CV952386	single nucleotide variant	NM_205861.3(DHDDS):c.962G>A (p.Arg321Gln)	Retinitis pigmentosa 59 [RCV001248204]	uncertain significance	1	26469091	26469091	Human	1	name
40888350	CV971389	single nucleotide variant	NM_205861.3(DHDDS):c.817G>T (p.Asp273Tyr)	Developmental delay and seizures with or without movement abnormalities [RCV004799455]\|Retinitis pigmentosa 59 [RCV002541605]	uncertain significance	1	26468946	26468946	Human	2	name
40906658	CV977534	single nucleotide variant	NM_205861.3(DHDDS):c.922G>A (p.Glu308Lys)	Retinitis pigmentosa 59 [RCV001280073]	uncertain significance	1	26469051	26469051	Human	1	name
126738814	CV987465	single nucleotide variant	NM_205861.3(DHDDS):c.299A>G (p.Lys100Arg)	Retinitis pigmentosa 59 [RCV001295530]	uncertain significance	1	26442849	26442849	Human	1	name
126764501	CV987466	single nucleotide variant	NM_205861.3(DHDDS):c.387G>C (p.Leu129Phe)	Retinitis pigmentosa 59 [RCV001301115]	uncertain significance	1	26446379	26446379	Human	1	name
126742266	CV987467	single nucleotide variant	NM_205861.3(DHDDS):c.399G>C (p.Glu133Asp)	Retinitis pigmentosa 59 [RCV001296022]	uncertain significance	1	26446391	26446391	Human	1	name
401947245	CV2834076	deletion	NM_205861.3(DHDDS):c.264_267del (p.Ser88fs)	Retinitis pigmentosa 59 [RCV003466163]	pathogenic\|likely pathogenic	1	26442811	26442814	Human	1	name
127272507	CV1058717	duplication	NM_205861.3(DHDDS):c.374_377dup (p.Pro128fs)	Retinitis pigmentosa 59 [RCV001390488]	pathogenic	1	26446365	26446366	Human	1	name
243057427	CV2412044	deletion	NM_205861.3(DHDDS):c.622_646del (p.Gly208fs)	not provided [RCV003146057]	uncertain significance	1	26457863	26457887	Human		name
401797440	CV2742060	deletion	NM_205861.3(DHDDS):c.908_941del (p.Ser303fs)	not specified [RCV003324237]	uncertain significance	1	26469035	26469068	Human		name
401947247	CV2834077	deletion	NM_205861.3(DHDDS):c.665_668del (p.His222fs)	Retinitis pigmentosa 59 [RCV003466164]\|Retinitis pigmentosa 59 [RCV005030035]	likely pathogenic	1	26460041	26460044	Human	1	name
617154415	CV4022557	microsatellite	NM_205861.3(DHDDS):c.435CAA[1] (p.Asn146del)	not provided [RCV005429914]	uncertain significance	1	26446426	26446428	Human		name
150455379	CV1232438	insertion	NM_205861.3(DHDDS):c.323+184_323+185insTTTTTT	not provided [RCV001648452]	benign	1	26443052	26443053	Human		name
150412771	CV1175883	indel	NM_205861.3(DHDDS):c.161_162delinsAA (p.Gly54Glu)	not provided [RCV001547603]	likely pathogenic	1	26438265	26438266	Human		name
152999900	CV1683444	deletion	NM_205861.3(DHDDS):c.649_657del (p.Leu217_Gln219del)	See cases [RCV002252628]	uncertain significance	1	26457896	26457904	Human		name

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