Hk1 Variant Search Result - Rat Genome Database

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740 records found for search term Hk1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
13436520	CV433607	single nucleotide variant	NM_000188.3(HK1):c.*6C>T	not provided [RCV001810992]	benign	10	69401141	69401141	Human		name
127249180	CV1077300	single nucleotide variant	NM_000188.3(HK1):c.63+8C>T	not provided [RCV001399549]	likely benign	10	69319018	69319018	Human		name
127316633	CV1120529	single nucleotide variant	NM_000188.3(HK1):c.63+9C>G	not provided [RCV001465592]	likely benign	10	69319019	69319019	Human		name
127295427	CV1156457	deletion	NM_000188.3(HK1):c.64-6del	not provided [RCV001512174]	benign	10	69343817	69343817	Human		name
408382630	CV3525694	single nucleotide variant	NM_000188.3(HK1):c.64-9C>T	not specified [RCV004766604]	likely benign	10	69343818	69343818	Human		name
152145671	CV1582701	single nucleotide variant	NM_000188.3(HK1):c.591+8C>A	not provided [RCV002201203]	likely benign	10	69368639	69368639	Human		name
152042334	CV1619602	single nucleotide variant	NM_000188.3(HK1):c.64-18C>T	not provided [RCV002188428]	likely benign	10	69343809	69343809	Human		name
156044098	CV1977960	single nucleotide variant	NM_000188.3(HK1):c.876-6C>T	not provided [RCV002590435]	likely benign	10	69376928	69376928	Human		name
156414208	CV1986539	single nucleotide variant	NM_000188.3(HK1):c.64-13C>T	not provided [RCV002609099]	likely benign	10	69343814	69343814	Human		name
156246123	CV1992771	single nucleotide variant	NM_000188.3(HK1):c.376-8T>A	not provided [RCV002627298]	likely benign	10	69364775	69364775	Human		name
156084097	CV2012132	single nucleotide variant	NM_000188.3(HK1):c.227-6A>G	not provided [RCV002706087]	likely benign	10	69359891	69359891	Human		name
156096947	CV2087797	single nucleotide variant	NM_000188.3(HK1):c.226+2T>A	not provided [RCV002847932]	likely pathogenic	10	69343991	69343991	Human		name
156098956	CV2087898	single nucleotide variant	NM_000188.3(HK1):c.591+8C>T	not provided [RCV002848008]	likely benign	10	69368639	69368639	Human		name
156157519	CV2096710	single nucleotide variant	NM_000188.3(HK1):c.227-5A>C	not provided [RCV002872535]	likely benign	10	69359892	69359892	Human		name
156325482	CV2159802	single nucleotide variant	NM_000188.3(HK1):c.876-3C>T	not provided [RCV003029460]	uncertain significance	10	69376931	69376931	Human		name
156165456	CV2169583	single nucleotide variant	NM_000188.3(HK1):c.691+1G>A	not provided [RCV003023348]	likely pathogenic	10	69369337	69369337	Human		name
243052971	CV2407733	single nucleotide variant	NM_000188.3(HK1):c.875+5G>A	not provided [RCV003131139]	uncertain significance	10	69369629	69369629	Human		name
401961812	CV2844134	single nucleotide variant	NM_000188.3(HK1):c.496-2A>G	not provided [RCV003481975]	uncertain significance	10	69368534	69368534	Human		name
402471074	CV2904399	deletion	NM_000188.3(HK1):c.64-11del	not provided [RCV003570500]	likely benign	10	69343816	69343816	Human		name
402514847	CV2936255	single nucleotide variant	NM_000188.3(HK1):c.876-5C>T	not provided [RCV003662864]	likely benign	10	69376929	69376929	Human		name
405147107	CV2960045	single nucleotide variant	NM_000188.3(HK1):c.496-6T>C	not provided [RCV003669778]	likely benign	10	69368530	69368530	Human		name
405139623	CV2970222	single nucleotide variant	NM_000188.3(HK1):c.63+19C>A	not provided [RCV003668987]	likely benign	10	69319029	69319029	Human		name
405116562	CV3134322	single nucleotide variant	NM_000188.3(HK1):c.592-5C>G	not provided [RCV003836924]	likely benign	10	69369232	69369232	Human		name
405144622	CV3155640	single nucleotide variant	NM_000188.3(HK1):c.226+9G>A	not provided [RCV003855682]	likely benign	10	69343998	69343998	Human		name
405873162	CV3398430	single nucleotide variant	NM_000188.3(HK1):c.875+1G>A	not provided [RCV004575926]	uncertain significance	10	69369625	69369625	Human		name
598127589	CV3882761	single nucleotide variant	NM_000188.3(HK1):c.691+4A>G	not provided [RCV005234292]	uncertain significance	10	69369340	69369340	Human		name
13437067	CV433608	single nucleotide variant	NM_000188.3(HK1):c.692-3C>T	not provided [RCV001521162]	benign	10	69369438	69369438	Human		name
15134953	CV744453	single nucleotide variant	NM_000188.3(HK1):c.226+9G>T	not provided [RCV000898376]	likely benign	10	69343998	69343998	Human		name
126735491	CV1009135	single nucleotide variant	NM_000188.3(HK1):c.1720-3C>T	Charcot-Marie-Tooth disease type 4G [RCV002227517]\|not provided [RCV001313726]	uncertain significance	10	69384793	69384793	Human	1	name
127260760	CV1077301	single nucleotide variant	NM_000188.3(HK1):c.876-20C>T	not provided [RCV001402244]	likely benign	10	69376914	69376914	Human		name
127272948	CV1077302	single nucleotide variant	NM_000188.3(HK1):c.876-18G>T	not provided [RCV001405848]	likely benign	10	69376916	69376916	Human		name
127232148	CV1077309	single nucleotide variant	NM_000188.3(HK1):c.1571-5A>C	not provided [RCV001413332]	likely benign	10	69384328	69384328	Human		name
127260555	CV1077312	single nucleotide variant	NM_000188.3(HK1):c.2036-4C>G	Inborn genetic diseases [RCV002553394]\|not provided [RCV001402206]	likely benign\|uncertain significance	10	69392121	69392121	Human	1	name
127236967	CV1098960	single nucleotide variant	NM_000188.3(HK1):c.375+10T>C	not provided [RCV001422628]	likely benign	10	69360055	69360055	Human		name
127269435	CV1098969	single nucleotide variant	NM_000188.3(HK1):c.2035+9C>T	HK1-related disorder [RCV004550152]\|not provided [RCV001430277]	likely benign	10	69389305	69389305	Human		name , trait , alternate_id
127299758	CV1120531	single nucleotide variant	NM_000188.3(HK1):c.592-10C>T	HK1-related disorder [RCV004550197]\|not provided [RCV001453662]	likely benign	10	69369227	69369227	Human		name , trait , alternate_id
127305645	CV1141367	single nucleotide variant	NM_000188.3(HK1):c.592-15G>A	not provided [RCV001499956]	likely benign	10	69369222	69369222	Human		name
127299055	CV1141370	single nucleotide variant	NM_000188.3(HK1):c.1720-8C>G	HK1-related disorder [RCV004550261]\|not provided [RCV001498214]	likely benign	10	69384788	69384788	Human		name , trait , alternate_id
127304851	CV1141373	single nucleotide variant	NM_000188.3(HK1):c.2219+8C>T	not provided [RCV001499763]\|not specified [RCV001701173]	benign\|likely benign	10	69392316	69392316	Human		name
127299261	CV1156459	single nucleotide variant	NM_000188.3(HK1):c.375+19C>T	not provided [RCV001513594]	benign\|likely benign	10	69360064	69360064	Human		name
127305603	CV1156460	single nucleotide variant	NM_000188.3(HK1):c.691+13C>T	not provided [RCV001516331]	benign\|likely benign	10	69369349	69369349	Human		name
151351144	CV1321066	single nucleotide variant	NM_000188.3(HK1):c.876-16G>T	not provided [RCV001810757]	likely benign	10	69376918	69376918	Human		name
151782376	CV1360542	single nucleotide variant	NM_000188.3(HK1):c.2219+5C>A	not provided [RCV001865086]	uncertain significance	10	69392313	69392313	Human		name
151768863	CV1383522	single nucleotide variant	NM_000188.3(HK1):c.2609+3G>C	not provided [RCV001874246]	uncertain significance	10	69398831	69398831	Human		name
151845302	CV1489816	single nucleotide variant	NM_000188.3(HK1):c.2610-5T>C	Inborn genetic diseases [RCV002553599]\|not provided [RCV001881859]	likely benign\|uncertain significance	10	69400986	69400986	Human	1	name
152091027	CV1525780	single nucleotide variant	NM_000188.3(HK1):c.1266-9C>T	not provided [RCV002150590]	likely benign	10	69382478	69382478	Human		name
152095123	CV1533947	single nucleotide variant	NM_000188.3(HK1):c.1570+7G>C	not provided [RCV002151102]	likely benign	10	69382798	69382798	Human		name
152092208	CV1544997	single nucleotide variant	NM_000188.3(HK1):c.691+18G>A	not provided [RCV002171976]	likely benign	10	69369354	69369354	Human		name
152119763	CV1547154	deletion	NM_000188.3(HK1):c.875+21del	not provided [RCV002154106]\|not specified [RCV005239299]	likely benign	10	69369644	69369644	Human		name
152174544	CV1567280	single nucleotide variant	NM_000188.3(HK1):c.375+20G>A	not provided [RCV002163191]	likely benign	10	69360065	69360065	Human		name
152058429	CV1567508	single nucleotide variant	NM_000188.3(HK1):c.592-16C>T	not provided [RCV002146505]	likely benign	10	69369221	69369221	Human		name
152160953	CV1568618	single nucleotide variant	NM_000188.3(HK1):c.591+16C>G	not provided [RCV002203422]	likely benign	10	69368647	69368647	Human		name
152026682	CV1583030	single nucleotide variant	NM_000188.3(HK1):c.2376-8C>T	not provided [RCV002084880]	likely benign	10	69398587	69398587	Human		name
152140383	CV1613843	single nucleotide variant	NM_000188.3(HK1):c.875+17T>C	not provided [RCV002084076]	likely benign	10	69369641	69369641	Human		name
152098251	CV1616466	single nucleotide variant	NM_000188.3(HK1):c.592-19C>A	not provided [RCV002132920]	likely benign	10	69369218	69369218	Human		name
152142961	CV1640736	single nucleotide variant	NM_000188.3(HK1):c.2220-5C>G	not provided [RCV002178298]	likely benign	10	69394945	69394945	Human		name
152978046	CV1671360	single nucleotide variant	NM_000188.3(HK1):c.1571-9C>T	not provided [RCV002227319]	likely benign	10	69384324	69384324	Human		name
156083033	CV1956288	single nucleotide variant	NM_000188.3(HK1):c.1570+7G>A	not provided [RCV002569971]	likely benign	10	69382798	69382798	Human		name
156407078	CV1963893	single nucleotide variant	NM_000188.3(HK1):c.1032-4A>G	HK1-related disorder [RCV004548319]\|not provided [RCV002586113]	likely benign	10	69379858	69379858	Human		name , trait , alternate_id
156254150	CV1967340	single nucleotide variant	NM_000188.3(HK1):c.2035+3G>A	not provided [RCV002597568]	uncertain significance	10	69389299	69389299	Human		name
155910576	CV1980123	deletion	NM_000188.3(HK1):c.1266-6del	not provided [RCV002613959]	benign	10	69382477	69382477	Human		name
155923164	CV1991454	single nucleotide variant	NM_000188.3(HK1):c.876-16G>A	not provided [RCV002614649]	likely benign	10	69376918	69376918	Human		name
156036290	CV2002654	single nucleotide variant	NM_000188.3(HK1):c.227-19C>T	not provided [RCV002658863]	likely benign	10	69359878	69359878	Human		name
155908926	CV2017492	single nucleotide variant	NM_000188.3(HK1):c.591+13G>C	not provided [RCV002681572]	likely benign	10	69368644	69368644	Human		name
156072352	CV2028966	single nucleotide variant	NM_000188.3(HK1):c.1840-9A>G	not provided [RCV002760359]	likely benign	10	69386314	69386314	Human		name
155952336	CV2043787	single nucleotide variant	NM_000188.3(HK1):c.1031+3A>G	not provided [RCV002775839]	uncertain significance	10	69377092	69377092	Human		name
156264534	CV2095742	single nucleotide variant	NM_000188.3(HK1):c.692-10T>C	not provided [RCV002895705]	likely benign	10	69369431	69369431	Human		name
155979342	CV2157152	single nucleotide variant	NM_000188.3(HK1):c.376-11G>A	not provided [RCV003016299]	likely benign	10	69364772	69364772	Human		name
156299937	CV2170034	single nucleotide variant	NM_000188.3(HK1):c.1570+3G>A	not provided [RCV003045502]	uncertain significance	10	69382794	69382794	Human		name
401902711	CV2799543	single nucleotide variant	NM_000188.3(HK1):c.2219+2T>C	HK1-related disorder [RCV004552603]	uncertain significance	10	69392310	69392310	Human		name , trait , alternate_id
405204624	CV2858631	single nucleotide variant	NM_000188.3(HK1):c.375+15C>T	not provided [RCV003551784]	likely benign	10	69360060	69360060	Human		name
405184325	CV2920426	single nucleotide variant	NM_000188.3(HK1):c.1265+8T>C	not provided [RCV003564308]	likely benign	10	69380103	69380103	Human		name
405028962	CV2928788	deletion	NM_000188.3(HK1):c.2376-5del	not provided [RCV003578151]	benign	10	69398586	69398586	Human		name
405180552	CV2956252	single nucleotide variant	NM_000188.3(HK1):c.1266-7C>T	not provided [RCV003676220]	likely benign	10	69382480	69382480	Human		name
405232043	CV2974671	single nucleotide variant	NM_000188.3(HK1):c.1840-8T>C	not provided [RCV003682422]	likely benign	10	69386315	69386315	Human		name
405084082	CV3043635	single nucleotide variant	NM_000188.3(HK1):c.1032-3C>T	not provided [RCV003717350]	uncertain significance	10	69379859	69379859	Human		name
405037211	CV3072590	single nucleotide variant	NM_000188.3(HK1):c.591+10C>T	not provided [RCV003739466]	likely benign	10	69368641	69368641	Human		name
405186211	CV3124350	single nucleotide variant	NM_000188.3(HK1):c.876-19G>A	not provided [RCV003820549]	likely benign	10	69376915	69376915	Human		name
404990340	CV3131989	single nucleotide variant	NM_000188.3(HK1):c.692-14C>T	not provided [RCV003827118]	likely benign	10	69369427	69369427	Human		name
405016261	CV3139080	single nucleotide variant	NM_000188.3(HK1):c.876-14G>A	not provided [RCV003829417]	likely benign	10	69376920	69376920	Human		name
405204129	CV3144063	single nucleotide variant	NM_000188.3(HK1):c.1935+4A>C	not provided [RCV003844853]	uncertain significance	10	69386422	69386422	Human		name
408389605	CV3524648	single nucleotide variant	NM_000188.3(HK1):c.2035+1G>A	not provided [RCV004769543]	uncertain significance	10	69389297	69389297	Human		name
596924738	CV3532391	single nucleotide variant	NM_000188.3(HK1):c.2376-1G>A	not provided [RCV004777502]	uncertain significance	10	69398594	69398594	Human		name
597963799	CV3753951	single nucleotide variant	NM_000188.3(HK1):c.2376-8C>G	not provided [RCV005082255]	likely benign	10	69398587	69398587	Human		name
597934682	CV3810978	single nucleotide variant	NM_000188.3(HK1):c.1935+7A>G	not provided [RCV005157687]	likely benign	10	69386425	69386425	Human		name
597886710	CV3855199	single nucleotide variant	NM_000188.3(HK1):c.2375+8G>C	not provided [RCV005199844]	likely benign	10	69395113	69395113	Human		name
597863866	CV3860785	single nucleotide variant	NM_000188.3(HK1):c.2610-4T>A	not provided [RCV005196313]	likely benign	10	69400987	69400987	Human		name
15110902	CV759809	single nucleotide variant	NM_000188.3(HK1):c.2219+9G>A	not provided [RCV000916627]	likely benign	10	69392317	69392317	Human		name
15192859	CV775687	single nucleotide variant	NM_000188.3(HK1):c.2219+9G>T	not provided [RCV000933201]	likely benign	10	69392317	69392317	Human		name
15198691	CV777891	single nucleotide variant	NM_000188.3(HK1):c.1031+6T>C	Charcot-Marie-Tooth disease type 4G [RCV002479107]\|not provided [RCV000956832]	benign	10	69377095	69377095	Human	1	name
21405720	CV799611	single nucleotide variant	NM_000188.3(HK1):c.495+12C>T	not specified [RCV001001052]	uncertain significance	10	69364914	69364914	Human		name
38499268	CV960722	single nucleotide variant	NM_000188.3(HK1):c.2375+3G>A	not provided [RCV001244404]	uncertain significance	10	69395108	69395108	Human		name
127268362	CV1098962	single nucleotide variant	NM_000188.3(HK1):c.1266-18C>A	not provided [RCV001429929]	likely benign	10	69382469	69382469	Human		name
127273220	CV1098964	single nucleotide variant	NM_000188.3(HK1):c.1720-10T>G	not provided [RCV001442457]	likely benign	10	69384786	69384786	Human		name
127244666	CV1098973	single nucleotide variant	NM_000188.3(HK1):c.2610-12C>T	not provided [RCV001424140]	likely benign	10	69400979	69400979	Human		name
127332541	CV1141372	single nucleotide variant	NM_000188.3(HK1):c.2036-11G>T	not provided [RCV001489541]	likely benign	10	69392114	69392114	Human		name
127306520	CV1156462	single nucleotide variant	NM_000188.3(HK1):c.1571-18C>T	not provided [RCV001516665]	benign\|likely benign	10	69384315	69384315	Human		name
127321839	CV1156463	single nucleotide variant	NM_000188.3(HK1):c.2610-13T>A	not provided [RCV001523248]\|not specified [RCV001699576]	benign	10	69400978	69400978	Human		name
150435952	CV1275191	single nucleotide variant	NM_000188.3(HK1):c.1839+31G>A	Charcot-Marie-Tooth disease type 4G [RCV001702350]\|Hemolytic anemia due to hexokinase deficiency [RCV001702214]\|Neurodevelopmental disorder with visual defects and brain anomalies [RCV001702215]\|Retinitis pigmentosa 79 [RCV001702351]\|not provided [RCV004718957]	benign	10	69384946	69384946	Human	5	name
150436570	CV1275192	single nucleotide variant	NM_000188.3(HK1):c.2219+27T>C	Charcot-Marie-Tooth disease type 4G [RCV001702352]\|Hemolytic anemia due to hexokinase deficiency [RCV001702055]\|Neurodevelopmental disorder with visual defects and brain anomalies [RCV001702056]\|Retinitis pigmentosa 79 [RCV001703325]\|not provided [RCV004718958]	benign	10	69392335	69392335	Human	7	name
150520751	CV1289887	single nucleotide variant	NM_000188.3(HK1):c.1265+19A>G	not provided [RCV001730260]\|not specified [RCV001730261]	benign\|likely benign	10	69380114	69380114	Human		name
152067721	CV1529432	single nucleotide variant	NM_000188.3(HK1):c.1720-15T>C	not provided [RCV002168891]	likely benign	10	69384781	69384781	Human		name
152053160	CV1531982	single nucleotide variant	NM_000188.3(HK1):c.2036-12C>T	not provided [RCV002072632]	likely benign	10	69392113	69392113	Human		name
152124961	CV1532257	single nucleotide variant	NM_000188.3(HK1):c.2375+12G>A	not provided [RCV002118331]	likely benign	10	69395117	69395117	Human		name
152067435	CV1557255	single nucleotide variant	NM_000188.3(HK1):c.1571-17G>A	not provided [RCV002191346]	likely benign	10	69384316	69384316	Human		name
152069139	CV1562260	single nucleotide variant	NM_000188.3(HK1):c.2610-14C>G	not provided [RCV002169064]	likely benign	10	69400977	69400977	Human		name
152050659	CV1569093	single nucleotide variant	NM_000188.3(HK1):c.1266-10C>T	not provided [RCV002207479]	likely benign	10	69382477	69382477	Human		name
152079690	CV1579902	single nucleotide variant	NM_000188.3(HK1):c.2376-18G>T	not provided [RCV002076202]	likely benign	10	69398577	69398577	Human		name
152068859	CV1585816	single nucleotide variant	NM_000188.3(HK1):c.1031+20G>C	not provided [RCV002147802]	likely benign	10	69377109	69377109	Human		name
152160528	CV1601639	single nucleotide variant	NM_000188.3(HK1):c.2375+11A>G	not provided [RCV002180851]	likely benign	10	69395116	69395116	Human		name
152146488	CV1615355	single nucleotide variant	NM_000188.3(HK1):c.2610-11G>A	not provided [RCV002101552]	likely benign	10	69400980	69400980	Human		name
152096764	CV1623464	deletion	NM_000188.3(HK1):c.1266-12del	not provided [RCV002213462]	likely benign	10	69382475	69382475	Human		name
152169670	CV1632544	deletion	NM_000188.3(HK1):c.1935+18del	not provided [RCV002142863]	likely benign	10	69386436	69386436	Human		name
152131228	CV1635403	single nucleotide variant	NM_000188.3(HK1):c.1266-19T>G	not provided [RCV002099512]	likely benign	10	69382468	69382468	Human		name
152143029	CV1640746	single nucleotide variant	NM_000188.3(HK1):c.2036-11G>A	not provided [RCV002178306]	likely benign	10	69392114	69392114	Human		name
152066882	CV1647089	single nucleotide variant	NM_000188.3(HK1):c.2035+13G>A	not provided [RCV002129095]	likely benign	10	69389309	69389309	Human		name
152146837	CV1655974	deletion	NM_000188.3(HK1):c.1571-12del	not provided [RCV002220181]	likely benign	10	69384318	69384318	Human		name
152048987	CV1656093	single nucleotide variant	NM_000188.3(HK1):c.2036-18C>T	not provided [RCV002207275]	likely benign	10	69392107	69392107	Human		name
152107302	CV1661873	duplication	NM_000188.3(HK1):c.1840-10dup	not provided [RCV002116090]	benign	10	69386308	69386309	Human		name
153303805	CV1686471	single nucleotide variant	NM_000188.3(HK1):c.2036-29G>T	not provided [RCV002261905]	uncertain significance	10	69392096	69392096	Human		name
156210963	CV1955759	deletion	NM_000188.3(HK1):c.1719+19del	not provided [RCV002575153]	likely benign	10	69384500	69384500	Human		name
156170198	CV1956231	single nucleotide variant	NM_000188.3(HK1):c.1032-15C>T	not provided [RCV002573788]	likely benign	10	69379847	69379847	Human		name
156210539	CV1987212	duplication	NM_000188.3(HK1):c.2036-14dup	not provided [RCV002626061]	benign	10	69392106	69392107	Human		name
156111754	CV2008671	single nucleotide variant	NM_000188.3(HK1):c.2220-13C>T	not provided [RCV002695697]	likely benign	10	69394937	69394937	Human		name
156199757	CV2014707	single nucleotide variant	NM_000188.3(HK1):c.2036-16C>T	not provided [RCV002700238]	likely benign	10	69392109	69392109	Human		name
155916315	CV2022057	single nucleotide variant	NM_000188.3(HK1):c.1031+16T>C	not provided [RCV002727149]	likely benign	10	69377105	69377105	Human		name
156139617	CV2044409	duplication	NM_000188.3(HK1):c.1031+15dup	not provided [RCV002800902]	benign	10	69377100	69377101	Human		name
10408030	CV204592	single nucleotide variant	NM_001358263.1(HK1):c.-290G>C	Charcot-Marie-Tooth disease type 4G [RCV000194396]	pathogenic\|not provided	10	69278691	69278691	Human	1	name
156262166	CV2057218	single nucleotide variant	NM_000188.3(HK1):c.1570+13T>G	not provided [RCV002792053]	likely benign	10	69382804	69382804	Human		name
156131187	CV2084904	single nucleotide variant	NM_000188.3(HK1):c.1935+14G>A	not provided [RCV002871639]	likely benign	10	69386432	69386432	Human		name
156001242	CV2092235	single nucleotide variant	NM_000188.3(HK1):c.1032-13T>C	not provided [RCV002908642]	likely benign	10	69379849	69379849	Human		name
156222627	CV2107397	single nucleotide variant	NM_000188.3(HK1):c.1935+17T>G	not provided [RCV002918628]	likely benign	10	69386435	69386435	Human		name
156042768	CV2147005	single nucleotide variant	NM_000188.3(HK1):c.1031+20G>A	not provided [RCV003019122]	likely benign	10	69377109	69377109	Human		name
156003008	CV2179222	single nucleotide variant	NM_000188.3(HK1):c.2375+15T>A	not provided [RCV003034863]	likely benign	10	69395120	69395120	Human		name
405017895	CV2856031	single nucleotide variant	NM_000188.3(HK1):c.2036-19G>A	not provided [RCV003577305]	likely benign	10	69392106	69392106	Human		name
405203087	CV2915159	single nucleotide variant	NM_000188.3(HK1):c.1719+18T>C	not provided [RCV003566154]	likely benign	10	69384499	69384499	Human		name
405120920	CV2953909	single nucleotide variant	NM_000188.3(HK1):c.1935+11A>G	not provided [RCV003667439]	likely benign	10	69386429	69386429	Human		name
404980799	CV3006162	single nucleotide variant	NM_000188.3(HK1):c.1570+18G>A	not provided [RCV003691175]	likely benign	10	69382809	69382809	Human		name
402480157	CV3033175	single nucleotide variant	NM_000188.3(HK1):c.1839+17A>G	not provided [RCV003712678]	likely benign	10	69384932	69384932	Human		name
405224003	CV3035875	single nucleotide variant	NM_000188.3(HK1):c.2376-11G>A	not provided [RCV003710387]	likely benign	10	69398584	69398584	Human		name
405141248	CV3131227	single nucleotide variant	NM_000188.3(HK1):c.2610-15T>G	not provided [RCV003839267]	likely benign	10	69400976	69400976	Human		name
405112720	CV3133642	single nucleotide variant	NM_000188.3(HK1):c.1266-13C>G	not provided [RCV003836435]	likely benign	10	69382474	69382474	Human		name
405275988	CV3203681	single nucleotide variant	NM_001358263.1(HK1):c.-297G>A	HK1-related disorder [RCV004552702]	likely benign	10	69278684	69278684	Human		name , trait , alternate_id
597896664	CV3740426	single nucleotide variant	NM_000188.3(HK1):c.1719+17A>G	not provided [RCV005071779]	likely benign	10	69384498	69384498	Human		name
597961484	CV3753257	single nucleotide variant	NM_000188.3(HK1):c.1266-11G>A	not provided [RCV005081757]	likely benign	10	69382476	69382476	Human		name
597921971	CV3777442	single nucleotide variant	NM_000188.3(HK1):c.1032-19T>A	not provided [RCV005130371]	likely benign	10	69379843	69379843	Human		name
597848788	CV3793007	single nucleotide variant	NM_000188.3(HK1):c.1935+14G>T	not provided [RCV005145143]	likely benign	10	69386432	69386432	Human		name
597975584	CV3799230	single nucleotide variant	NM_000188.3(HK1):c.2220-18C>A	not provided [RCV005144626]	likely benign	10	69394932	69394932	Human		name
597913857	CV3817448	single nucleotide variant	NM_000188.3(HK1):c.2036-14C>T	not provided [RCV005154650]	likely benign	10	69392111	69392111	Human		name
597867985	CV3858227	duplication	NM_000188.3(HK1):c.2035+15dup	not provided [RCV005196970]	likely benign	10	69389309	69389310	Human		name
8570758	CV48698	single nucleotide variant	NM_001358263.1(HK1):c.-270G>C	Charcot-Marie-Tooth disease type 4G [RCV000033228]\|Hemolytic anemia due to hexokinase deficiency [RCV002247416]\|not provided [RCV002054534]	pathogenic\|likely benign\|conflicting interpretations of pathogenicity	10	69278711	69278711	Human	3	name
41405637	CV981709	single nucleotide variant	NM_000188.3(HK1):c.1266-13C>T	not provided [RCV001519122]	benign	10	69382474	69382474	Human		name
41405593	CV981710	single nucleotide variant	NM_000188.3(HK1):c.1719+19A>G	not provided [RCV001523251]	benign	10	69384500	69384500	Human	3	name
41405593	CV981710	single nucleotide variant	NM_000188.3(HK1):c.1719+19A>G	not provided [RCV001523251]	benign	10	69384500	69384501	Human	3	name
150453489	CV1203812	single nucleotide variant	NM_000188.3(HK1):c.227-5115A>T	Neurodevelopmental disorder with visual defects and brain anomalies [RCV001591768]	uncertain significance	10	69354782	69354782	Human	1	name
150439460	CV1274555	single nucleotide variant	NM_001358263.1(HK1):c.75+16T>C	not provided [RCV001703337]\|not specified [RCV001700895]	benign\|likely benign	10	69295696	69295696	Human		name
150439373	CV1275190	single nucleotide variant	NM_001358263.1(HK1):c.75+23T>C	Charcot-Marie-Tooth disease type 4G [RCV001703323]\|Hemolytic anemia due to hexokinase deficiency [RCV001703322]\|Neurodevelopmental disorder with visual defects and brain anomalies [RCV001702054]\|Retinitis pigmentosa 79 [RCV001703324]\|not provided [RCV004718956]	benign	10	69295703	69295703	Human	5	name
8652259	CV128834	single nucleotide variant	NM_033500.2(HK1):c.2183+101C>G	Lung cancer [RCV000109321]	uncertain significance	10	69392409	69392409	Human		name
598121979	CV3882779	duplication	NM_001358263.1(HK1):c.75+23dup	not provided [RCV005234310]	benign	10	69295692	69295693	Human		name
21406077	CV799609	deletion	NM_001358263.1(HK1):c.75+23del	not provided [RCV001702763]\|not specified [RCV001001903]	benign\|likely benign	10	69295693	69295693	Human		name
8564524	CV29954	deletion	NM_000188.3(HK1):c.497_591+1del	Hemolytic anemia due to hexokinase deficiency [RCV000016050]	pathogenic				Human	2	name
151351170	CV1321084	single nucleotide variant	NM_001358263.1(HK1):c.75+5186G>A	not provided [RCV001810767]	benign\|likely benign	10	69300866	69300866	Human		name
405272801	CV3195699	single nucleotide variant	NM_001358263.1(HK1):c.75+5182G>C	HK1-related disorder [RCV004550861]	uncertain significance	10	69300862	69300862	Human		name , trait , alternate_id
598121984	CV3882897	single nucleotide variant	NM_001358263.1(HK1):c.28-3328T>A	not provided [RCV005234429]	likely benign	10	69292305	69292305	Human		name
21405510	CV799607	single nucleotide variant	NM_001358263.1(HK1):c.28-3347T>A	HK1-related disorder [RCV004553544]\|not provided [RCV001811582]	benign\|likely benign\|uncertain significance	10	69292286	69292286	Human		name , trait , alternate_id
21406287	CV799608	single nucleotide variant	NM_001358263.1(HK1):c.28-3329G>A	HK1-related disorder [RCV004553547]\|not provided [RCV004693434]\|not specified [RCV001002419]	likely benign\|uncertain significance	10	69292304	69292304	Human		name , trait , alternate_id
41405257	CV981702	single nucleotide variant	NM_001358263.1(HK1):c.28-3306C>T	not provided [RCV001673045]	benign	10	69292327	69292327	Human		name
41405534	CV981705	single nucleotide variant	NM_001358263.1(HK1):c.75+5174A>G	Charcot-Marie-Tooth disease type 4G [RCV001703092]\|Hemolytic anemia due to hexokinase deficiency [RCV001702889]\|Neurodevelopmental disorder with visual defects and brain anomalies [RCV001703094]\|Retinal dystrophy [RCV003887990]\|Retinitis pigmentosa 79 [RCV001703093]\|not provided [RCV001813051]\|not s ... (more) pecified [RCV001700993]	benign	10	69300854	69300854	Human	13	name
41405534	CV981705	single nucleotide variant	NM_001358263.1(HK1):c.75+5174A>G	Charcot-Marie-Tooth disease type 4G [RCV001703092]\|Hemolytic anemia due to hexokinase deficiency [RCV001702889]\|Neurodevelopmental disorder with visual defects and brain anomalies [RCV001703094]\|Retinal dystrophy [RCV003887990]\|Retinitis pigmentosa 79 [RCV001703093]\|not provided [RCV001813051]\|not s ... (more) pecified [RCV001700993]	benign	10	69300854	69300855	Human	13	name
41405538	CV981706	single nucleotide variant	NM_001358263.1(HK1):c.75+5185C>T	not provided [RCV001813053]	benign	10	69300865	69300865	Human		name
41405535	CV981707	single nucleotide variant	NM_001358263.1(HK1):c.75+5198G>A	not provided [RCV001813052]\|not specified [RCV001699528]	benign	10	69300878	69300878	Human		name
126743559	CV1017301	single nucleotide variant	NM_001358263.1(HK1):c.75+20336T>A	Hemolytic anemia due to hexokinase deficiency [RCV001330230]\|not provided [RCV003738043]	likely benign\|uncertain significance	10	69316016	69316016	Human	2	name
153304497	CV1686469	single nucleotide variant	NM_001358263.1(HK1):c.75+20258T>C	not provided [RCV002261903]	uncertain significance	10	69315938	69315938	Human		name
405227576	CV3142916	microsatellite	NM_000188.3(HK1):c.496-8_496-6del	not provided [RCV003848259]	likely benign	10	69368523	69368525	Human		name
596924744	CV3539141	single nucleotide variant	NM_001358263.1(HK1):c.75+20312G>A	not provided [RCV004793267]	uncertain significance	10	69315992	69315992	Human		name
21405881	CV799610	single nucleotide variant	NM_001358263.1(HK1):c.75+20082A>G	HK1-related disorder [RCV003323780]\|Hemolytic anemia due to hexokinase deficiency [RCV004761859]\|not provided [RCV001811592]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	69315762	69315762	Human	2	name , trait , alternate_id
150339802	CV980865	single nucleotide variant	NM_001358263.1(HK1):c.75+20308C>T	Hemolytic anemia due to hexokinase deficiency [RCV001534610]\|not provided [RCV001726477]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	10	69315988	69315988	Human	2	name
127276484	CV1098959	single nucleotide variant	NM_001358263.1(HK1):c.-196+1241G>A	not provided [RCV001432837]	likely benign\|conflicting interpretations of pathogenicity	10	69280026	69280026	Human		name
156091348	CV2017732	single nucleotide variant	NM_000188.3(HK1):c.24C>G (p.Ala8=)	not provided [RCV002694953]	likely benign	10	69318971	69318971	Human		name
155928043	CV2041596	single nucleotide variant	NM_000188.3(HK1):c.12G>T (p.Ala4=)	not provided [RCV002751023]	likely benign	10	69318959	69318959	Human		name
597867184	CV3857907	single nucleotide variant	NM_000188.3(HK1):c.12G>C (p.Ala4=)	not provided [RCV005196855]	likely benign	10	69318959	69318959	Human		name
127242367	CV1077299	single nucleotide variant	NM_000188.3(HK1):c.36G>T (p.Thr12=)	Retinal dystrophy [RCV003888094]\|not provided [RCV001398174]	likely benign	10	69318983	69318983	Human	2	name
127289650	CV1120528	single nucleotide variant	NM_000188.3(HK1):c.40C>T (p.Leu14=)	not provided [RCV001450964]\|not specified [RCV003987866]	likely benign	10	69318987	69318987	Human		name
127290431	CV1141363	single nucleotide variant	NM_000188.3(HK1):c.96C>T (p.Ser32=)	not provided [RCV001495972]	likely benign	10	69343859	69343859	Human		name
401938365	CV2813238	single nucleotide variant	NM_000188.3(HK1):c.69C>T (p.Asp23=)	not provided [RCV003417461]	likely benign	10	69343832	69343832	Human		name
405154126	CV3163102	single nucleotide variant	NM_000188.3(HK1):c.84C>T (p.Ala28=)	HK1-related disorder [RCV004548728]\|not provided [RCV003856545]	likely benign	10	69343847	69343847	Human		name , trait , alternate_id
597934950	CV3759345	single nucleotide variant	NM_000188.3(HK1):c.81T>C (p.Tyr27=)	not provided [RCV005076465]	likely benign	10	69343844	69343844	Human		name
13435951	CV433604	single nucleotide variant	NM_000188.3(HK1):c.78C>G (p.Leu26=)	Charcot-Marie-Tooth disease type 4G [RCV001702793]\|Hemolytic anemia due to hexokinase deficiency [RCV001702792]\|Neurodevelopmental disorder with visual defects and brain anomalies [RCV001703181]\|Retinal dystrophy [RCV003889915]\|Retinitis pigmentosa 79 [RCV001702667]\|not provided [RCV001521161]	benign	10	69343841	69343841	Human	7	name
127325745	CV1141364	single nucleotide variant	NM_000188.3(HK1):c.177C>T (p.Ala59=)	not provided [RCV001506094]	likely benign	10	69343940	69343940	Human		name
127303050	CV1141365	single nucleotide variant	NM_000188.3(HK1):c.201C>T (p.Phe67=)	not provided [RCV001499260]	likely benign	10	69343964	69343964	Human		name
151841500	CV1361332	single nucleotide variant	NM_000188.3(HK1):c.198A>G (p.Thr66=)	not provided [RCV001881410]	likely benign\|uncertain significance	10	69343961	69343961	Human		name
155915050	CV2091676	single nucleotide variant	NM_000188.3(HK1):c.267C>G (p.Ser89=)	not provided [RCV002903028]	likely benign	10	69359937	69359937	Human		name
405247698	CV2976783	single nucleotide variant	NM_000188.3(HK1):c.280C>A (p.Arg94=)	not provided [RCV003685727]	likely benign	10	69359950	69359950	Human		name
402478121	CV3081581	duplication	NM_001358263.1(HK1):c.75+22_75+23dup	not provided [RCV003740567]	likely benign	10	69295692	69295693	Human		name
597928770	CV3749179	single nucleotide variant	NM_000188.3(HK1):c.156C>T (p.Ser52=)	not provided [RCV005075635]	likely benign	10	69343919	69343919	Human		name
597897037	CV3854313	single nucleotide variant	NM_000188.3(HK1):c.240C>T (p.Phe80=)	not provided [RCV005201420]	likely benign	10	69359910	69359910	Human		name
15179787	CV737560	single nucleotide variant	NM_000188.3(HK1):c.198A>T (p.Thr66=)	HK1-related disorder [RCV004551763]\|not provided [RCV000907196]	benign\|likely benign	10	69343961	69343961	Human		name , trait , alternate_id
126915909	CV1046700	single nucleotide variant	NM_000188.3(HK1):c.906G>A (p.Leu302=)	not provided [RCV001371193]	likely benign\|uncertain significance	10	69376964	69376964	Human		name
127236272	CV1077303	single nucleotide variant	NM_000188.3(HK1):c.999G>A (p.Lys333=)	not provided [RCV001396866]	likely benign	10	69377057	69377057	Human		name
127321667	CV1120530	single nucleotide variant	NM_000188.3(HK1):c.360C>T (p.His120=)	not provided [RCV001467339]	likely benign	10	69360030	69360030	Human		name
127310278	CV1120532	single nucleotide variant	NM_000188.3(HK1):c.609C>T (p.Ile203=)	not provided [RCV001456576]	likely benign	10	69369254	69369254	Human		name
127308441	CV1120533	single nucleotide variant	NM_000188.3(HK1):c.618G>T (p.Val206=)	not provided [RCV001463307]	likely benign	10	69369263	69369263	Human		name
127314551	CV1120534	single nucleotide variant	NM_000188.3(HK1):c.804A>T (p.Gly268=)	HK1-related disorder [RCV004550213]\|not provided [RCV001465010]	likely benign	10	69369553	69369553	Human		name , trait , alternate_id
127332923	CV1120535	single nucleotide variant	NM_000188.3(HK1):c.840G>A (p.Glu280=)	not provided [RCV001472577]	likely benign\|conflicting interpretations of pathogenicity	10	69369589	69369589	Human		name
127321015	CV1141366	single nucleotide variant	NM_000188.3(HK1):c.531G>A (p.Ala177=)	not provided [RCV001504633]	likely benign	10	69368571	69368571	Human		name
127299821	CV1156458	single nucleotide variant	NM_000188.3(HK1):c.372C>T (p.Ser124=)	not provided [RCV001513841]	benign	10	69360042	69360042	Human		name
152141185	CV1520550	single nucleotide variant	NM_000188.3(HK1):c.930A>G (p.Leu310=)	not provided [RCV002178078]	likely benign	10	69376988	69376988	Human		name
152062112	CV1558473	single nucleotide variant	NM_000188.3(HK1):c.561A>G (p.Lys187=)	not provided [RCV002128458]	likely benign	10	69368601	69368601	Human		name
152176113	CV1562352	single nucleotide variant	NM_000188.3(HK1):c.516A>C (p.Thr172=)	not provided [RCV002164253]	likely benign	10	69368556	69368556	Human		name
152056025	CV1583962	single nucleotide variant	NM_000188.3(HK1):c.978G>A (p.Pro326=)	not provided [RCV002208098]	likely benign	10	69377036	69377036	Human		name
152168836	CV1613960	single nucleotide variant	NM_000188.3(HK1):c.597T>C (p.Tyr199=)	not provided [RCV002161250]	likely benign	10	69369242	69369242	Human		name
152109059	CV1623554	single nucleotide variant	NM_000188.3(HK1):c.966G>C (p.Gly322=)	not provided [RCV002215224]	likely benign	10	69377024	69377024	Human		name
155706642	CV1772683	single nucleotide variant	NM_000188.3(HK1):c.55G>A (p.Val19Ile)	not provided [RCV002300338]	uncertain significance	10	69319002	69319002	Human		name
156435963	CV1937260	single nucleotide variant	NM_000188.3(HK1):c.687C>T (p.Ile229=)	not provided [RCV003105121]	likely benign	10	69369332	69369332	Human		name
156342889	CV1957972	single nucleotide variant	NM_000188.3(HK1):c.660C>T (p.Asp220=)	Retinal dystrophy [RCV003889120]\|not provided [RCV002580603]	likely benign	10	69369305	69369305	Human	2	name
156386702	CV1961307	single nucleotide variant	NM_000188.3(HK1):c.562C>T (p.Leu188=)	not provided [RCV002583538]	likely benign	10	69368602	69368602	Human		name
156417577	CV1967041	single nucleotide variant	NM_000188.3(HK1):c.492T>C (p.Asp164=)	not provided [RCV002590264]	likely benign	10	69364899	69364899	Human		name
156412898	CV1968866	single nucleotide variant	NM_000188.3(HK1):c.327C>T (p.Ser109=)	not provided [RCV002608675]	likely benign	10	69359997	69359997	Human		name
156008676	CV1989547	single nucleotide variant	NM_000188.3(HK1):c.678C>T (p.Val226=)	not provided [RCV002636108]	likely benign	10	69369323	69369323	Human		name
156295141	CV1995236	single nucleotide variant	NM_000188.3(HK1):c.89G>A (p.Arg30Gln)	not provided [RCV002670921]	uncertain significance	10	69343852	69343852	Human		name
155905672	CV2007338	single nucleotide variant	NM_000188.3(HK1):c.948G>A (p.Glu316=)	not provided [RCV002681378]	likely benign	10	69377006	69377006	Human		name
155917251	CV2029933	single nucleotide variant	NM_000188.3(HK1):c.834C>T (p.Asp278=)	not provided [RCV002750528]	likely benign	10	69369583	69369583	Human		name
156143622	CV2090774	deletion	NM_000188.3(HK1):c.267del (p.Arg91fs)	not provided [RCV002890398]	pathogenic	10	69359936	69359936	Human		name
156301535	CV2149917	single nucleotide variant	NM_000188.3(HK1):c.762G>A (p.Arg254=)	not provided [RCV003028117]	likely benign	10	69369511	69369511	Human		name
155933173	CV2153178	single nucleotide variant	NM_000188.3(HK1):c.669C>T (p.His223=)	not provided [RCV003013753]	likely benign	10	69369314	69369314	Human		name
156375951	CV2191082	single nucleotide variant	NM_000188.3(HK1):c.822G>C (p.Arg274=)	not provided [RCV003050105]	likely benign	10	69369571	69369571	Human		name
401903672	CV2798699	single nucleotide variant	NM_001358263.1(HK1):c.27G>A (p.Ser9=)	HK1-related disorder [RCV004550755]	uncertain significance	10	69288770	69288770	Human		name , trait , alternate_id
401938366	CV2813239	single nucleotide variant	NM_000188.3(HK1):c.549A>G (p.Ala183=)	not provided [RCV003417462]	likely benign	10	69368589	69368589	Human		name
402474525	CV2858207	single nucleotide variant	NM_000188.3(HK1):c.65T>C (p.Ile22Thr)	not provided [RCV003543148]	uncertain significance	10	69343828	69343828	Human		name
405267792	CV3186911	single nucleotide variant	NM_000188.3(HK1):c.699C>T (p.Gly233=)	not provided [RCV003886994]	likely benign	10	69369448	69369448	Human		name
597955818	CV3787207	single nucleotide variant	NM_000188.3(HK1):c.681C>T (p.Gly227=)	not provided [RCV005122092]	likely benign	10	69369326	69369326	Human		name
597973572	CV3801457	single nucleotide variant	NM_000188.3(HK1):c.486A>G (p.Lys162=)	not provided [RCV005143446]	likely benign	10	69364893	69364893	Human		name
597840154	CV3825266	single nucleotide variant	NM_000188.3(HK1):c.666G>A (p.Gln222=)	not provided [RCV005171949]	likely benign	10	69369311	69369311	Human		name
597878181	CV3825894	single nucleotide variant	NM_000188.3(HK1):c.459G>A (p.Thr153=)	not provided [RCV005177768]	likely benign	10	69364866	69364866	Human		name
14393678	CV609757	single nucleotide variant	NM_000188.3(HK1):c.86T>C (p.Met29Thr)	not provided [RCV000756246]	uncertain significance	10	69343849	69343849	Human		name
14394196	CV609758	single nucleotide variant	NM_000188.3(HK1):c.480A>G (p.Gln160=)	not provided [RCV000757372]	benign	10	69364887	69364887	Human		name
15186499	CV701415	single nucleotide variant	NM_000188.3(HK1):c.534C>T (p.Ser178=)	HK1-related disorder [RCV004553414]\|not provided [RCV000953301]	likely benign	10	69368574	69368574	Human		name , trait , alternate_id
15101439	CV724027	single nucleotide variant	NM_000188.3(HK1):c.828G>A (p.Glu276=)	not provided [RCV000892285]\|not specified [RCV001701237]	benign\|likely benign	10	69369577	69369577	Human		name
15097841	CV752196	single nucleotide variant	NM_000188.3(HK1):c.753C>T (p.Asp251=)	HK1-related disorder [RCV004740504]\|not provided [RCV000914103]	likely benign	10	69369502	69369502	Human		name , trait , alternate_id
15115601	CV767876	single nucleotide variant	NM_000188.3(HK1):c.699C>G (p.Gly233=)	not provided [RCV000939516]	likely benign	10	69369448	69369448	Human		name
15099339	CV783665	single nucleotide variant	NM_000188.3(HK1):c.531G>C (p.Ala177=)	not provided [RCV000975242]	likely benign	10	69368571	69368571	Human		name
15105931	CV783666	single nucleotide variant	NM_000188.3(HK1):c.570C>T (p.Asn190=)	not provided [RCV000976536]	likely benign	10	69368610	69368610	Human		name
15145632	CV783667	single nucleotide variant	NM_000188.3(HK1):c.798C>T (p.Asp266=)	not provided [RCV000983698]	likely benign	10	69369547	69369547	Human		name
26893912	CV837150	single nucleotide variant	NM_000188.3(HK1):c.97G>A (p.Asp33Asn)	not provided [RCV001063051]	uncertain significance	10	69343860	69343860	Human		name
26915149	CV837154	single nucleotide variant	NM_000188.3(HK1):c.690C>T (p.Ile230=)	not provided [RCV001038547]	uncertain significance	10	69369335	69369335	Human		name
126763033	CV993957	single nucleotide variant	NM_000188.3(HK1):c.53A>G (p.Gln18Arg)	See cases [RCV004584433]\|not provided [RCV001300558]	uncertain significance	10	69319000	69319000	Human		name
126727952	CV1009139	single nucleotide variant	NM_000188.3(HK1):c.2715G>A (p.Thr905=)	not provided [RCV001312400]	likely benign\|uncertain significance	10	69401096	69401096	Human		name
126924537	CV1046698	single nucleotide variant	NM_000188.3(HK1):c.214C>T (p.Pro72Ser)	not provided [RCV001367148]	uncertain significance	10	69343977	69343977	Human		name
127275255	CV1077304	single nucleotide variant	NM_000188.3(HK1):c.1227G>A (p.Thr409=)	not provided [RCV001406663]	likely benign	10	69380057	69380057	Human		name
127259877	CV1077305	single nucleotide variant	NM_000188.3(HK1):c.1239C>T (p.Asp413=)	not provided [RCV001419929]	likely benign	10	69380069	69380069	Human		name
127259401	CV1077306	single nucleotide variant	NM_000188.3(HK1):c.1314C>T (p.Ser438=)	not provided [RCV001419790]	likely benign	10	69382535	69382535	Human		name
127244954	CV1077307	single nucleotide variant	NM_000188.3(HK1):c.1335G>T (p.Ser445=)	not provided [RCV001398643]	likely benign	10	69382556	69382556	Human		name
127232018	CV1077308	single nucleotide variant	NM_000188.3(HK1):c.1563C>T (p.Asp521=)	HK1-related disorder [RCV004740681]\|not provided [RCV001395530]	likely benign	10	69382784	69382784	Human		name , trait , alternate_id
127279748	CV1077310	single nucleotide variant	NM_000188.3(HK1):c.1827G>A (p.Thr609=)	not provided [RCV001409316]	likely benign	10	69384903	69384903	Human		name
127257558	CV1077311	single nucleotide variant	NM_000188.3(HK1):c.1983C>T (p.Thr661=)	not provided [RCV001419330]	likely benign	10	69389244	69389244	Human		name
127256569	CV1077313	single nucleotide variant	NM_000188.3(HK1):c.2076C>T (p.Asn692=)	not provided [RCV001419075]	likely benign	10	69392165	69392165	Human		name
127266234	CV1077314	single nucleotide variant	NM_000188.3(HK1):c.2415G>A (p.Gln805=)	not provided [RCV001403824]	likely benign	10	69398634	69398634	Human		name
127279388	CV1077315	single nucleotide variant	NM_000188.3(HK1):c.2466G>T (p.Val822=)	not provided [RCV001409086]	likely benign	10	69398685	69398685	Human		name
127282379	CV1077316	single nucleotide variant	NM_000188.3(HK1):c.2505C>T (p.Gly835=)	not provided [RCV001411088]	likely benign	10	69398724	69398724	Human		name
127243485	CV1077317	single nucleotide variant	NM_000188.3(HK1):c.2520G>A (p.Ala840=)	not provided [RCV001416160]	likely benign	10	69398739	69398739	Human		name
127267608	CV1077318	single nucleotide variant	NM_000188.3(HK1):c.2724C>T (p.Gly908=)	not provided [RCV001404159]	likely benign	10	69401105	69401105	Human		name
127275833	CV1098961	single nucleotide variant	NM_000188.3(HK1):c.1173C>T (p.Gly391=)	not provided [RCV001432534]	likely benign	10	69380003	69380003	Human		name
127237764	CV1098963	single nucleotide variant	NM_000188.3(HK1):c.1359T>A (p.Ala453=)	not provided [RCV001422759]	likely benign	10	69382580	69382580	Human		name
127274316	CV1098965	single nucleotide variant	NM_000188.3(HK1):c.1920G>A (p.Ala640=)	not provided [RCV001442854]	likely benign	10	69386403	69386403	Human		name
127272252	CV1098966	single nucleotide variant	NM_000188.3(HK1):c.1950C>T (p.Asp650=)	not provided [RCV001431232]	likely benign	10	69389211	69389211	Human		name
127242012	CV1098967	single nucleotide variant	NM_000188.3(HK1):c.1968C>T (p.Asn656=)	not provided [RCV001423658]	likely benign	10	69389229	69389229	Human		name
127237313	CV1098968	single nucleotide variant	NM_000188.3(HK1):c.2001T>C (p.Tyr667=)	not provided [RCV001433512]	likely benign	10	69389262	69389262	Human		name
127250347	CV1098970	single nucleotide variant	NM_000188.3(HK1):c.2277C>T (p.Ile759=)	not provided [RCV001436318]	likely benign	10	69395007	69395007	Human		name
127240314	CV1098971	single nucleotide variant	NM_000188.3(HK1):c.2370C>T (p.Ile790=)	HK1-related disorder [RCV004550161]\|not provided [RCV001434204]	likely benign	10	69395100	69395100	Human		name , trait , alternate_id
127275344	CV1098972	single nucleotide variant	NM_000188.3(HK1):c.2454C>T (p.Leu818=)	not provided [RCV001443288]	likely benign	10	69398673	69398673	Human		name
127305999	CV1120536	single nucleotide variant	NM_000188.3(HK1):c.1092C>T (p.Ser364=)	Retinal dystrophy [RCV003888180]\|not provided [RCV001462646]	likely benign	10	69379922	69379922	Human	2	name
127298923	CV1120537	single nucleotide variant	NM_000188.3(HK1):c.1119C>T (p.His373=)	not provided [RCV001460669]	likely benign	10	69379949	69379949	Human		name
127313954	CV1120538	single nucleotide variant	NM_000188.3(HK1):c.1251C>T (p.Tyr417=)	not provided [RCV001457578]	likely benign	10	69380081	69380081	Human		name
127327308	CV1120539	single nucleotide variant	NM_000188.3(HK1):c.1317T>C (p.Asp439=)	not provided [RCV001469035]	likely benign	10	69382538	69382538	Human		name
127289654	CV1120540	single nucleotide variant	NM_000188.3(HK1):c.1560C>T (p.Pro520=)	Retinal dystrophy [RCV003888159]\|not provided [RCV001450965]	likely benign	10	69382781	69382781	Human	2	name
127294253	CV1120541	single nucleotide variant	NM_000188.3(HK1):c.1803G>A (p.Thr601=)	not provided [RCV001459381]	likely benign	10	69384879	69384879	Human		name
127315079	CV1120542	single nucleotide variant	NM_000188.3(HK1):c.2145C>T (p.Asn715=)	not provided [RCV001465135]	likely benign	10	69392234	69392234	Human		name
127335950	CV1120543	single nucleotide variant	NM_000188.3(HK1):c.2304C>T (p.Phe768=)	not provided [RCV001474631]	likely benign\|conflicting interpretations of pathogenicity	10	69395034	69395034	Human		name
127301837	CV1120544	single nucleotide variant	NM_000188.3(HK1):c.2658T>C (p.Cys886=)	not provided [RCV001461489]	likely benign	10	69401039	69401039	Human		name
127292014	CV1120545	single nucleotide variant	NM_000188.3(HK1):c.2703C>T (p.Ala901=)	HK1-related disorder [RCV004550207]\|Retinal dystrophy [RCV003888174]\|not provided [RCV001458881]	benign\|likely benign	10	69401084	69401084	Human	2	name , trait , alternate_id
127320730	CV1141368	single nucleotide variant	NM_000188.3(HK1):c.1392C>G (p.Ala464=)	not provided [RCV001484334]	likely benign	10	69382613	69382613	Human		name
127327654	CV1141369	single nucleotide variant	NM_000188.3(HK1):c.1419C>A (p.Thr473=)	not provided [RCV001486429]	likely benign	10	69382640	69382640	Human		name
127321057	CV1141371	single nucleotide variant	NM_000188.3(HK1):c.1884C>T (p.Cys628=)	Retinal dystrophy [RCV003888210]\|not provided [RCV001484423]	benign\|likely benign	10	69386367	69386367	Human	2	name
127324232	CV1141374	single nucleotide variant	NM_000188.3(HK1):c.2403G>C (p.Arg801=)	not provided [RCV001485434]	likely benign	10	69398622	69398622	Human		name
127303510	CV1156461	single nucleotide variant	NM_000188.3(HK1):c.1347C>T (p.Ser449=)	not provided [RCV001515500]	benign	10	69382568	69382568	Human		name
150488117	CV1274364	single nucleotide variant	NM_000188.3(HK1):c.1236C>T (p.Val412=)	not provided [RCV001699737]	likely benign	10	69380066	69380066	Human		name
150551363	CV1297326	single nucleotide variant	NM_000188.3(HK1):c.215C>T (p.Pro72Leu)	not provided [RCV001767008]	uncertain significance	10	69343978	69343978	Human		name
151352645	CV1321741	single nucleotide variant	NM_000188.3(HK1):c.2634G>A (p.Thr878=)	not provided [RCV001812602]	likely benign	10	69401015	69401015	Human		name
151780603	CV1356045	single nucleotide variant	NM_000188.3(HK1):c.1371G>A (p.Thr457=)	not provided [RCV002046130]	likely benign\|uncertain significance	10	69382592	69382592	Human		name
151807378	CV1371120	single nucleotide variant	NM_000188.3(HK1):c.1839G>A (p.Ala613=)	not provided [RCV001877931]	uncertain significance	10	69384915	69384915	Human		name
151750996	CV1415865	single nucleotide variant	NM_000188.3(HK1):c.280C>T (p.Arg94Trp)	not provided [RCV001927518]	uncertain significance	10	69359950	69359950	Human		name
151800644	CV1426676	single nucleotide variant	NM_000188.3(HK1):c.1947G>A (p.Leu649=)	not provided [RCV001990919]	likely benign\|uncertain significance	10	69389208	69389208	Human		name
151716132	CV1448498	single nucleotide variant	NM_000188.3(HK1):c.296A>G (p.His99Arg)	not provided [RCV001965250]	uncertain significance	10	69359966	69359966	Human		name
151850786	CV1448584	single nucleotide variant	NM_000188.3(HK1):c.281G>A (p.Arg94Gln)	Hemolytic anemia due to hexokinase deficiency [RCV002285030]\|not provided [RCV001957959]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	10	69359951	69359951	Human	2	name
151745791	CV1485102	single nucleotide variant	NM_000188.3(HK1):c.158G>A (p.Arg53Gln)	not provided [RCV002006293]	uncertain significance	10	69343921	69343921	Human		name
151711090	CV1497136	single nucleotide variant	NM_000188.3(HK1):c.2004G>A (p.Glu668=)	not provided [RCV002001980]	likely benign\|uncertain significance	10	69389265	69389265	Human		name
151844761	CV1501509	single nucleotide variant	NM_000188.3(HK1):c.169C>A (p.Pro57Thr)	not provided [RCV002015764]	uncertain significance	10	69343932	69343932	Human		name
151889795	CV1516410	single nucleotide variant	NM_000188.3(HK1):c.250G>A (p.Asp84Asn)	not provided [RCV002038673]	uncertain significance	10	69359920	69359920	Human		name
152166384	CV1524346	single nucleotide variant	NM_000188.3(HK1):c.2595C>T (p.Tyr865=)	not provided [RCV002141913]	likely benign	10	69398814	69398814	Human		name
152082527	CV1525173	single nucleotide variant	NM_000188.3(HK1):c.1635C>T (p.Ile545=)	Retinal dystrophy [RCV003889075]\|not provided [RCV002131002]	benign\|likely benign	10	69384397	69384397	Human	2	name
152109896	CV1536885	single nucleotide variant	NM_000188.3(HK1):c.1293A>G (p.Leu431=)	not provided [RCV002215334]	likely benign	10	69382514	69382514	Human		name
152039528	CV1538525	single nucleotide variant	NM_000188.3(HK1):c.2472G>A (p.Gly824=)	not provided [RCV002206129]	likely benign	10	69398691	69398691	Human		name
152090270	CV1550598	single nucleotide variant	NM_000188.3(HK1):c.1554A>G (p.Arg518=)	not provided [RCV002131958]	likely benign	10	69382775	69382775	Human		name
152075464	CV1551193	single nucleotide variant	NM_000188.3(HK1):c.1450C>T (p.Leu484=)	not provided [RCV002192348]	likely benign	10	69382671	69382671	Human		name
152062433	CV1558537	single nucleotide variant	NM_000188.3(HK1):c.2325G>A (p.Thr775=)	not provided [RCV002128501]	likely benign	10	69395055	69395055	Human		name
152105953	CV1560000	single nucleotide variant	NM_000188.3(HK1):c.1782C>T (p.Pro594=)	not provided [RCV002133853]	likely benign	10	69384858	69384858	Human		name
152062067	CV1563720	single nucleotide variant	NM_000188.3(HK1):c.2175C>T (p.Tyr725=)	not provided [RCV002208810]	likely benign	10	69392264	69392264	Human		name
152056595	CV1567143	single nucleotide variant	NM_000188.3(HK1):c.1356G>A (p.Gly452=)	not provided [RCV002146311]	likely benign	10	69382577	69382577	Human		name
152105703	CV1572589	single nucleotide variant	NM_000188.3(HK1):c.1545C>T (p.Phe515=)	not provided [RCV002152369]	likely benign	10	69382766	69382766	Human		name
152114767	CV1574988	single nucleotide variant	NM_000188.3(HK1):c.1599T>C (p.Leu533=)	not provided [RCV002117034]	likely benign	10	69384361	69384361	Human		name
152146350	CV1606047	single nucleotide variant	NM_000188.3(HK1):c.1257G>A (p.Thr419=)	Retinal dystrophy [RCV003889093]\|not provided [RCV002178779]	benign\|likely benign	10	69380087	69380087	Human	2	name
152162755	CV1606369	single nucleotide variant	NM_000188.3(HK1):c.1413G>A (p.Glu471=)	not provided [RCV002181213]	likely benign	10	69382634	69382634	Human		name
152064287	CV1606764	single nucleotide variant	NM_000188.3(HK1):c.1392C>T (p.Ala464=)	not provided [RCV002209101]	likely benign	10	69382613	69382613	Human		name
152062307	CV1612423	single nucleotide variant	NM_000188.3(HK1):c.2490C>T (p.Ala830=)	not provided [RCV002168149]	likely benign	10	69398709	69398709	Human		name
152140606	CV1625163	single nucleotide variant	NM_000188.3(HK1):c.1509G>A (p.Thr503=)	HK1-related disorder [RCV004553688]\|not provided [RCV002219320]	likely benign	10	69382730	69382730	Human		name , trait , alternate_id
152025846	CV1627643	single nucleotide variant	NM_000188.3(HK1):c.2439C>T (p.Cys813=)	not provided [RCV002104349]	likely benign	10	69398658	69398658	Human		name
152098315	CV1650324	single nucleotide variant	NM_000188.3(HK1):c.2451C>T (p.Ile817=)	not provided [RCV002114993]	likely benign	10	69398670	69398670	Human		name
152160078	CV1655500	single nucleotide variant	NM_000188.3(HK1):c.2706C>G (p.Ala902=)	not provided [RCV002203276]	likely benign	10	69401087	69401087	Human		name
152173786	CV1659873	single nucleotide variant	NM_000188.3(HK1):c.1893C>T (p.His631=)	Retinal dystrophy [RCV003889056]\|not provided [RCV002162924]	benign\|likely benign	10	69386376	69386376	Human	2	name
152079347	CV1663385	single nucleotide variant	NM_000188.3(HK1):c.1089G>A (p.Pro363=)	not provided [RCV002149098]	likely benign	10	69379919	69379919	Human		name
152982429	CV1677365	single nucleotide variant	NM_001358263.1(HK1):c.1A>T (p.Met1Leu)	Hemolytic anemia due to hexokinase deficiency [RCV002249072]	likely pathogenic	10	69288744	69288744	Human	2	name
155643866	CV1708176	single nucleotide variant	NM_000188.3(HK1):c.271C>T (p.Arg91Ter)	Charcot-Marie-Tooth disease type 4G [RCV002290165]\|not provided [RCV002463196]	likely pathogenic\|uncertain significance	10	69359941	69359941	Human	1	name
155689416	CV1777863	single nucleotide variant	NM_000188.3(HK1):c.194C>T (p.Pro65Leu)	not provided [RCV002299209]	uncertain significance	10	69343957	69343957	Human		name
156298324	CV1932653	single nucleotide variant	NM_000188.3(HK1):c.1836C>T (p.Asp612=)	HK1-related disorder [RCV004741418]\|not provided [RCV002647512]	likely benign	10	69384912	69384912	Human		name , trait , alternate_id
156156570	CV1967668	single nucleotide variant	NM_000188.3(HK1):c.1737C>T (p.Val579=)	not provided [RCV002594319]	likely benign	10	69384813	69384813	Human		name
156319478	CV1968235	single nucleotide variant	NM_000188.3(HK1):c.2259C>T (p.Ile753=)	not provided [RCV002630250]	likely benign	10	69394989	69394989	Human		name
156208265	CV1986903	single nucleotide variant	NM_000188.3(HK1):c.1152C>T (p.Asn384=)	not provided [RCV002625984]	likely benign	10	69379982	69379982	Human		name
156401329	CV1992066	single nucleotide variant	NM_000188.3(HK1):c.1026C>T (p.Ile342=)	Retinal dystrophy [RCV003889138]\|not provided [RCV002605635]	likely benign	10	69377084	69377084	Human	2	name
156114970	CV1993847	single nucleotide variant	NM_000188.3(HK1):c.1521C>T (p.Ala507=)	not provided [RCV002662631]	likely benign	10	69382742	69382742	Human		name
156039398	CV1998944	single nucleotide variant	NM_000188.3(HK1):c.2190C>T (p.Asp730=)	not provided [RCV002658975]	likely benign	10	69392279	69392279	Human		name
156333507	CV2000781	single nucleotide variant	NM_000188.3(HK1):c.2370C>A (p.Ile790=)	not provided [RCV002649949]	likely benign	10	69395100	69395100	Human		name
156224506	CV2005914	single nucleotide variant	NM_000188.3(HK1):c.1374G>A (p.Ala458=)	not provided [RCV002667350]	likely benign	10	69382595	69382595	Human		name
156096902	CV2010753	single nucleotide variant	NM_000188.3(HK1):c.2739A>G (p.Thr913=)	not provided [RCV002695152]	likely benign	10	69401120	69401120	Human		name
156366666	CV2010794	single nucleotide variant	NM_000188.3(HK1):c.1206C>T (p.Gly402=)	not provided [RCV002676608]	likely benign	10	69380036	69380036	Human		name
155946497	CV2028948	single nucleotide variant	NM_000188.3(HK1):c.1401C>T (p.His467=)	not provided [RCV002730435]	likely benign	10	69382622	69382622	Human		name
156315034	CV2031835	single nucleotide variant	NM_000188.3(HK1):c.1758G>A (p.Leu586=)	not provided [RCV002716750]	uncertain significance	10	69384834	69384834	Human		name
156011224	CV2035491	single nucleotide variant	NM_000188.3(HK1):c.2655A>G (p.Lys885=)	not provided [RCV002795111]	likely benign	10	69401036	69401036	Human		name
155971082	CV2062479	single nucleotide variant	NM_000188.3(HK1):c.151C>T (p.Leu51Phe)	not provided [RCV002842081]	uncertain significance	10	69343914	69343914	Human		name
156230519	CV2074927	single nucleotide variant	NM_000188.3(HK1):c.2052C>T (p.Ala684=)	not provided [RCV002830031]	likely benign	10	69392141	69392141	Human		name
155969055	CV2079102	single nucleotide variant	NM_000188.3(HK1):c.1977G>A (p.Val659=)	not provided [RCV002881398]	likely benign	10	69389238	69389238	Human		name
155949160	CV2087955	single nucleotide variant	NM_000188.3(HK1):c.2646G>C (p.Leu882=)	not provided [RCV002880400]	likely benign	10	69401027	69401027	Human		name
156032149	CV2089779	single nucleotide variant	NM_000188.3(HK1):c.2130G>A (p.Gly710=)	not provided [RCV002885446]	likely benign	10	69392219	69392219	Human		name
156151238	CV2131764	single nucleotide variant	NM_000188.3(HK1):c.2133C>T (p.Ala711=)	not provided [RCV002982660]	likely benign	10	69392222	69392222	Human		name
156093541	CV2143177	single nucleotide variant	NM_000188.3(HK1):c.1395G>A (p.Glu465=)	not provided [RCV002979702]	likely benign	10	69382616	69382616	Human		name
156355157	CV2154230	single nucleotide variant	NM_000188.3(HK1):c.2148G>A (p.Gly716=)	not provided [RCV003031177]	likely benign	10	69392237	69392237	Human		name
155979198	CV2166918	single nucleotide variant	NM_000188.3(HK1):c.1362C>T (p.Ala454=)	not provided [RCV003033799]	likely benign	10	69382583	69382583	Human		name
156193787	CV2171401	single nucleotide variant	NM_000188.3(HK1):c.2604T>C (p.His868=)	not provided [RCV003024220]	likely benign	10	69398823	69398823	Human		name
156111270	CV2177384	single nucleotide variant	NM_000188.3(HK1):c.116T>C (p.Ile39Thr)	not provided [RCV003055100]	uncertain significance	10	69343879	69343879	Human		name
156438315	CV2401551	single nucleotide variant	NM_000188.3(HK1):c.173C>T (p.Thr58Ile)	not provided [RCV003108255]	uncertain significance	10	69343936	69343936	Human		name
11546581	CV253803	single nucleotide variant	NM_000188.3(HK1):c.1443G>A (p.Lys481=)	Charcot-Marie-Tooth disease type 4G [RCV001701885]\|Hemolytic anemia due to hexokinase deficiency [RCV001702379]\|Neurodevelopmental disorder with visual defects and brain anomalies [RCV001701886]\|Retinal dystrophy [RCV003888654]\|Retinitis pigmentosa 79 [RCV001701954]\|not provided [RCV001512136]\|not s ... (more) pecified [RCV000246647]	benign	10	69382664	69382664	Human	7	name
401798603	CV2739390	single nucleotide variant	NM_000188.3(HK1):c.189G>A (p.Met63Ile)	not provided [RCV003319038]	uncertain significance	10	69343952	69343952	Human		name
401874973	CV2749299	deletion	NM_000188.3(HK1):c.613del (p.Ala205fs)	Retinitis pigmentosa 79 [RCV003332427]	likely pathogenic	10	69369258	69369258	Human	1	name
402493055	CV2878034	single nucleotide variant	NM_000188.3(HK1):c.2241T>A (p.Gly747=)	not provided [RCV003545136]	likely benign	10	69394971	69394971	Human		name
405228020	CV2894454	single nucleotide variant	NM_000188.3(HK1):c.1023C>G (p.Ala341=)	not provided [RCV003555012]	likely benign	10	69377081	69377081	Human		name
405209528	CV2910185	single nucleotide variant	NM_000188.3(HK1):c.2484G>A (p.Arg828=)	not provided [RCV003566963]	likely benign	10	69398703	69398703	Human		name
405213471	CV2918378	single nucleotide variant	NM_000188.3(HK1):c.2673C>G (p.Leu891=)	not provided [RCV003567460]	likely benign	10	69401054	69401054	Human		name
402483883	CV2937499	single nucleotide variant	NM_000188.3(HK1):c.1110A>G (p.Ser370=)	not provided [RCV003659796]	likely benign	10	69379940	69379940	Human		name
402507336	CV2944448	single nucleotide variant	NM_000188.3(HK1):c.2490C>G (p.Ala830=)	not provided [RCV003662198]	likely benign	10	69398709	69398709	Human		name
405230260	CV2964330	single nucleotide variant	NM_000188.3(HK1):c.2400C>G (p.Val800=)	not provided [RCV003682131]	likely benign	10	69398619	69398619	Human		name
405039959	CV3013619	single nucleotide variant	NM_000188.3(HK1):c.169C>G (p.Pro57Ala)	not provided [RCV003696223]	uncertain significance	10	69343932	69343932	Human		name
405160745	CV3021529	single nucleotide variant	NM_000188.3(HK1):c.206G>A (p.Arg69Lys)	not provided [RCV003703945]	uncertain significance	10	69343969	69343969	Human		name
405227558	CV3142913	single nucleotide variant	NM_000188.3(HK1):c.1524G>T (p.Val508=)	not provided [RCV003848256]	likely benign	10	69382745	69382745	Human		name
405166380	CV3160580	single nucleotide variant	NM_000188.3(HK1):c.1677C>T (p.Ile559=)	not provided [RCV003857460]	likely benign	10	69384439	69384439	Human		name
405157275	CV3163552	single nucleotide variant	NM_000188.3(HK1):c.2706C>T (p.Ala902=)	not provided [RCV003856798]	likely benign	10	69401087	69401087	Human		name
404984244	CV3183623	single nucleotide variant	NM_000188.3(HK1):c.2154G>A (p.Leu718=)	not provided [RCV003880900]	likely benign	10	69392243	69392243	Human		name
405269479	CV3187380	single nucleotide variant	NM_000188.3(HK1):c.1608C>G (p.Thr536=)	not provided [RCV003887464]	likely benign	10	69384370	69384370	Human		name
405270278	CV3187497	single nucleotide variant	NM_001358263.1(HK1):c.57T>C (p.His19=)	not provided [RCV003887581]	likely benign	10	69295662	69295662	Human		name
405262978	CV3188491	single nucleotide variant	NM_000188.3(HK1):c.1344C>T (p.Gly448=)	Retinal dystrophy [RCV003889555]	uncertain significance	10	69382565	69382565	Human	2	name
405259084	CV3194506	single nucleotide variant	NM_000188.3(HK1):c.2562G>C (p.Leu854=)	HK1-related disorder [RCV004548850]	likely benign	10	69398781	69398781	Human		name , trait , alternate_id
405699267	CV3227092	deletion	NM_000188.3(HK1):c.847del (p.Arg283fs)	not provided [RCV003993486]	uncertain significance	10	69369595	69369595	Human		name
408370580	CV3512121	single nucleotide variant	NM_000188.3(HK1):c.1101C>T (p.Asp367=)	HK1-related disorder [RCV004739934]	likely benign	10	69379931	69379931	Human		name , trait , alternate_id
408386938	CV3524304	single nucleotide variant	NM_000188.3(HK1):c.230A>C (p.Lys77Thr)	not provided [RCV004768178]	uncertain significance	10	69359900	69359900	Human		name
597691463	CV3682617	single nucleotide variant	NM_000188.3(HK1):c.184A>G (p.Lys62Glu)	Inborn genetic diseases [RCV004985842]	uncertain significance	10	69343947	69343947	Human	1	name
597691471	CV3682619	single nucleotide variant	NM_000188.3(HK1):c.109A>G (p.Ile37Val)	Inborn genetic diseases [RCV004985843]	uncertain significance	10	69343872	69343872	Human	1	name
597947897	CV3759045	single nucleotide variant	NM_000188.3(HK1):c.1560C>G (p.Pro520=)	not provided [RCV005078841]	likely benign	10	69382781	69382781	Human		name
597940311	CV3788585	single nucleotide variant	NM_000188.3(HK1):c.2091G>A (p.Glu697=)	not provided [RCV005133260]	likely benign	10	69392180	69392180	Human		name
597947476	CV3807543	single nucleotide variant	NM_000188.3(HK1):c.1779C>G (p.Gly593=)	not provided [RCV005160178]	likely benign	10	69384855	69384855	Human		name
597950553	CV3815163	single nucleotide variant	NM_000188.3(HK1):c.157C>T (p.Arg53Trp)	not provided [RCV005161113]	uncertain significance	10	69343920	69343920	Human		name
597846581	CV3828024	single nucleotide variant	NM_000188.3(HK1):c.2010C>T (p.Pro670=)	not provided [RCV005173099]	likely benign	10	69389271	69389271	Human		name
598127850	CV3882922	single nucleotide variant	NM_000188.3(HK1):c.2142C>T (p.Asp714=)	not provided [RCV005234455]	likely benign	10	69392231	69392231	Human		name
598122350	CV3884349	single nucleotide variant	NM_000188.3(HK1):c.1791T>A (p.Pro597=)	not specified [RCV005237040]	likely benign	10	69384867	69384867	Human		name
598129234	CV3888528	single nucleotide variant	NM_000188.3(HK1):c.1368G>A (p.Val456=)	not provided [RCV005244702]	likely benign	10	69382589	69382589	Human		name
13437241	CV433605	single nucleotide variant	NM_000188.3(HK1):c.2040C>T (p.Thr680=)	not provided [RCV001520316]	benign	10	69392129	69392129	Human		name
13436197	CV433606	single nucleotide variant	NM_000188.3(HK1):c.2691C>T (p.Ser897=)	Retinal dystrophy [RCV003889916]\|not provided [RCV001516924]	benign	10	69401072	69401072	Human	2	name
13827529	CV578487	single nucleotide variant	NM_001358263.1(HK1):c.4G>A (p.Gly2Arg)	Charcot-Marie-Tooth disease type 4G [RCV000714606]	uncertain significance	10	69288747	69288747	Human	1	name
15155566	CV712438	single nucleotide variant	NM_000188.3(HK1):c.1515C>T (p.Asn505=)	not provided [RCV000968947]	benign\|likely benign	10	69382736	69382736	Human		name
15151619	CV712439	single nucleotide variant	NM_000188.3(HK1):c.2538C>T (p.Arg846=)	Retinal dystrophy [RCV003890128]\|not provided [RCV000968178]	benign	10	69398757	69398757	Human	2	name
15151625	CV712440	single nucleotide variant	NM_000188.3(HK1):c.2613C>T (p.Phe871=)	not provided [RCV000968179]	benign	10	69400994	69400994	Human		name
15111261	CV724028	single nucleotide variant	NM_000188.3(HK1):c.1479C>T (p.Ala493=)	HK1-related disorder [RCV004740492]\|not provided [RCV000894235]	likely benign	10	69382700	69382700	Human		name , trait , alternate_id
15185805	CV737561	single nucleotide variant	NM_000188.3(HK1):c.1656G>A (p.Thr552=)	not provided [RCV000908630]	likely benign	10	69384418	69384418	Human		name
15186064	CV737562	single nucleotide variant	NM_000188.3(HK1):c.1680C>T (p.Tyr560=)	Retinal dystrophy [RCV003890052]\|not provided [RCV000908704]	benign\|likely benign	10	69384442	69384442	Human	2	name
15188111	CV737563	single nucleotide variant	NM_000188.3(HK1):c.2583C>T (p.Asp861=)	not provided [RCV000909276]	benign\|likely benign	10	69398802	69398802	Human		name
15135658	CV752197	single nucleotide variant	NM_000188.3(HK1):c.2007G>A (p.Glu669=)	Retinal dystrophy [RCV003890068]\|not provided [RCV000920887]\|not specified [RCV001700507]	benign	10	69389268	69389268	Human	2	name
15121658	CV752198	single nucleotide variant	NM_000188.3(HK1):c.2226G>A (p.Glu742=)	HK1-related disorder [RCV004551832]\|not provided [RCV000918518]	benign\|likely benign	10	69394956	69394956	Human		name , trait , alternate_id
15102149	CV752199	single nucleotide variant	NM_000188.3(HK1):c.2301C>T (p.Leu767=)	HK1-related disorder [RCV004551812]\|not provided [RCV000914915]	likely benign	10	69395031	69395031	Human		name , trait , alternate_id
15110909	CV752200	single nucleotide variant	NM_000188.3(HK1):c.2469C>T (p.Cys823=)	Retinal dystrophy [RCV003890064]\|not provided [RCV000916628]	benign\|likely benign	10	69398688	69398688	Human	2	name
21071920	CV790972	single nucleotide variant	NM_001358263.1(HK1):c.1A>G (p.Met1Val)	Charcot-Marie-Tooth disease type 4G [RCV000988372]	likely pathogenic	10	69288744	69288744	Human	1	name
21073275	CV796443	deletion	NM_000188.3(HK1):c.528del (p.Ala177fs)	not provided [RCV000994432]	uncertain significance	10	69368566	69368566	Human		name
26892022	CV837155	single nucleotide variant	NM_000188.3(HK1):c.1170G>A (p.Leu390=)	not provided [RCV001061213]\|not specified [RCV004702617]	likely benign\|uncertain significance	10	69380000	69380000	Human		name
126759375	CV1009131	single nucleotide variant	NM_000188.3(HK1):c.661G>A (p.Asp221Asn)	not provided [RCV001318043]	uncertain significance	10	69369306	69369306	Human		name
126760276	CV1009132	single nucleotide variant	NM_000188.3(HK1):c.691G>A (p.Gly231Ser)	not provided [RCV001318294]	uncertain significance	10	69369336	69369336	Human		name
126727011	CV1017302	duplication	NM_000188.3(HK1):c.1871dup (p.Ala625fs)	Charcot-Marie-Tooth disease type 4G [RCV001332258]\|not provided [RCV003132425]	uncertain significance	10	69386352	69386353	Human	1	name
126730689	CV1029696	single nucleotide variant	NM_000188.3(HK1):c.601G>A (p.Ala201Thr)	not provided [RCV001349305]	uncertain significance	10	69369246	69369246	Human		name
126908631	CV1046699	single nucleotide variant	NM_000188.3(HK1):c.820C>T (p.Arg274Trp)	not provided [RCV001368049]	uncertain significance	10	69369569	69369569	Human		name
127289705	CV1152438	single nucleotide variant	NM_000188.3(HK1):c.371G>A (p.Ser124Asn)	not provided [RCV001509387]	uncertain significance	10	69360041	69360041	Human		name
127286364	CV1161949	single nucleotide variant	NM_001358263.1(HK1):c.19C>T (p.Arg7Ter)	Charcot-Marie-Tooth disease type 4G [RCV001526839]\|Neurodevelopmental disorder with visual defects and brain anomalies [RCV005208165]	pathogenic\|likely pathogenic	10	69288762	69288762	Human	2	name
150332428	CV1169403	single nucleotide variant	NM_000188.3(HK1):c.469C>T (p.Pro157Ser)	not provided [RCV001536878]	uncertain significance	10	69364876	69364876	Human		name
150488544	CV1274629	single nucleotide variant	NM_000188.3(HK1):c.854C>T (p.Ser285Phe)	not provided [RCV001699882]	uncertain significance	10	69369603	69369603	Human		name
150549184	CV1295004	single nucleotide variant	NM_000188.3(HK1):c.916G>T (p.Val306Phe)	Retinal dystrophy [RCV004815616]\|not provided [RCV001764965]	uncertain significance	10	69376974	69376974	Human	2	name
150555520	CV1304661	single nucleotide variant	NM_000188.3(HK1):c.841A>C (p.Ile281Leu)	not provided [RCV001772909]	uncertain significance	10	69369590	69369590	Human		name
150557026	CV1310350	single nucleotide variant	NM_000188.3(HK1):c.796G>A (p.Asp266Asn)	Neurodevelopmental disorder with visual defects and brain anomalies [RCV001775278]	likely pathogenic	10	69369545	69369545	Human	1	name
151728556	CV1338926	single nucleotide variant	NM_000188.3(HK1):c.961G>A (p.Glu321Lys)	not provided [RCV002004539]	uncertain significance	10	69377019	69377019	Human		name
151811113	CV1345246	single nucleotide variant	NM_000188.3(HK1):c.317A>T (p.His106Leu)	not provided [RCV001878278]	uncertain significance	10	69359987	69359987	Human		name
151851241	CV1378108	single nucleotide variant	NM_000188.3(HK1):c.958T>C (p.Phe320Leu)	not provided [RCV002016614]	uncertain significance	10	69377016	69377016	Human		name
151820319	CV1378368	single nucleotide variant	NM_000188.3(HK1):c.968G>A (p.Arg323Gln)	not provided [RCV002029829]	uncertain significance	10	69377026	69377026	Human		name
151842778	CV1379740	single nucleotide variant	NM_000188.3(HK1):c.967C>T (p.Arg323Trp)	not provided [RCV001936318]	uncertain significance	10	69377025	69377025	Human		name
151818656	CV1395185	deletion	NM_000188.3(HK1):c.2095del (p.Asp699fs)	not provided [RCV001975513]	pathogenic\|uncertain significance	10	69392180	69392180	Human		name
151768533	CV1445518	single nucleotide variant	NM_000188.3(HK1):c.352A>G (p.Ile118Val)	Retinal dystrophy [RCV003888969]\|not provided [RCV002025135]	uncertain significance	10	69360022	69360022	Human	2	name
151862414	CV1448792	single nucleotide variant	NM_000188.3(HK1):c.742G>T (p.Val248Leu)	not provided [RCV001959388]	uncertain significance	10	69369491	69369491	Human		name
151735359	CV1465786	single nucleotide variant	NM_000188.3(HK1):c.766T>C (p.Cys256Arg)	not provided [RCV002041647]	uncertain significance	10	69369515	69369515	Human		name
151752193	CV1467410	single nucleotide variant	NM_000188.3(HK1):c.316C>T (p.His106Tyr)	not provided [RCV001927630]	uncertain significance	10	69359986	69359986	Human		name
151798074	CV1503893	single nucleotide variant	NM_000188.3(HK1):c.587G>A (p.Arg196Gln)	not provided [RCV001973654]	uncertain significance	10	69368627	69368627	Human		name
153303803	CV1686470	single nucleotide variant	NM_000188.3(HK1):c.913C>A (p.Leu305Met)	not provided [RCV002261904]	uncertain significance	10	69376971	69376971	Human		name
155743835	CV1777564	single nucleotide variant	NM_000188.3(HK1):c.847C>T (p.Arg283Trp)	not provided [RCV002303038]	uncertain significance	10	69369596	69369596	Human		name
155944114	CV1878976	single nucleotide variant	NM_000188.3(HK1):c.799G>A (p.Asp267Asn)	not provided [RCV003073736]	uncertain significance	10	69369548	69369548	Human		name
156257394	CV1977395	single nucleotide variant	NM_000188.3(HK1):c.892A>G (p.Ser298Gly)	not provided [RCV002597668]	uncertain significance	10	69376950	69376950	Human		name
156249673	CV1989044	single nucleotide variant	NM_000188.3(HK1):c.907G>A (p.Gly303Arg)	not provided [RCV002627408]\|not specified [RCV003988016]	uncertain significance	10	69376965	69376965	Human		name
156354106	CV1994941	single nucleotide variant	NM_000188.3(HK1):c.788C>T (p.Ala263Val)	not provided [RCV002675798]	uncertain significance	10	69369537	69369537	Human		name
156173504	CV2016266	single nucleotide variant	NM_000188.3(HK1):c.835A>G (p.Arg279Gly)	not provided [RCV002710554]	uncertain significance	10	69369584	69369584	Human		name
156122969	CV2039959	single nucleotide variant	NM_000188.3(HK1):c.435C>G (p.Asp145Glu)	Inborn genetic diseases [RCV002805396]\|not provided [RCV002785865]	uncertain significance	10	69364842	69364842	Human	1	name
156337114	CV2057828	single nucleotide variant	NM_000188.3(HK1):c.916G>C (p.Val306Leu)	not provided [RCV002810999]	uncertain significance	10	69376974	69376974	Human		name
156212938	CV2074336	single nucleotide variant	NM_000188.3(HK1):c.976C>G (p.Pro326Ala)	not provided [RCV002829370]	uncertain significance	10	69377034	69377034	Human		name
155997383	CV2091989	single nucleotide variant	NM_000188.3(HK1):c.607A>G (p.Ile203Val)	not provided [RCV002908453]	uncertain significance	10	69369252	69369252	Human		name
156342940	CV2099678	single nucleotide variant	NM_000188.3(HK1):c.305A>C (p.Asn102Thr)	not provided [RCV002900582]	uncertain significance	10	69359975	69359975	Human		name
156127881	CV2124994	single nucleotide variant	NM_000188.3(HK1):c.794G>C (p.Gly265Ala)	not provided [RCV002953761]	uncertain significance	10	69369543	69369543	Human		name
156084104	CV2138396	single nucleotide variant	NM_000188.3(HK1):c.455T>A (p.Phe152Tyr)	not provided [RCV002979364]	uncertain significance	10	69364862	69364862	Human		name
155988227	CV2159902	single nucleotide variant	NM_000188.3(HK1):c.574G>A (p.Ala192Thr)	not provided [RCV003034203]	uncertain significance	10	69368614	69368614	Human		name
156296726	CV2184155	single nucleotide variant	NM_000188.3(HK1):c.772A>C (p.Asn258His)	not provided [RCV003027905]	uncertain significance	10	69369521	69369521	Human		name
156077699	CV2248140	single nucleotide variant	NM_000188.3(HK1):c.887T>C (p.Met296Thr)	Inborn genetic diseases [RCV002797765]	uncertain significance	10	69376945	69376945	Human	1	name
243060004	CV2407735	single nucleotide variant	NM_000188.3(HK1):c.384T>A (p.Asp128Glu)	not provided [RCV003135585]	uncertain significance	10	69364791	69364791	Human		name
243060005	CV2407737	single nucleotide variant	NM_000188.3(HK1):c.892A>T (p.Ser298Cys)	not provided [RCV003135586]	uncertain significance	10	69376950	69376950	Human		name
329953003	CV2669712	single nucleotide variant	NM_000188.3(HK1):c.562C>G (p.Leu188Val)	not provided [RCV003234336]	uncertain significance	10	69368602	69368602	Human		name
401923610	CV2803315	single nucleotide variant	NM_000188.3(HK1):c.388G>A (p.Val130Ile)	HK1-related disorder [RCV004550691]	uncertain significance	10	69364795	69364795	Human		name , trait , alternate_id
401938367	CV2813240	single nucleotide variant	NM_000188.3(HK1):c.754G>A (p.Glu252Lys)	not provided [RCV003417463]	uncertain significance	10	69369503	69369503	Human		name
401905526	CV2831485	single nucleotide variant	NM_000188.3(HK1):c.991C>T (p.Arg331Ter)	Neurodevelopmental disorder with visual defects and brain anomalies [RCV003444477]\|not provided [RCV003669420]	pathogenic\|uncertain significance	10	69377049	69377049	Human	1	name
405238680	CV2889175	single nucleotide variant	NM_000188.3(HK1):c.898A>G (p.Met300Val)	not provided [RCV003556906]	uncertain significance	10	69376956	69376956	Human		name
405026768	CV2889951	single nucleotide variant	NM_000188.3(HK1):c.518A>G (p.Lys173Arg)	not provided [RCV003578038]	uncertain significance	10	69368558	69368558	Human		name
405195598	CV2922099	single nucleotide variant	NM_000188.3(HK1):c.536G>T (p.Gly179Val)	not provided [RCV003565331]	uncertain significance	10	69368576	69368576	Human		name
405062109	CV2926428	single nucleotide variant	NM_000188.3(HK1):c.640A>G (p.Met214Val)	not provided [RCV003580549]	uncertain significance	10	69369285	69369285	Human		name
405122970	CV2954228	single nucleotide variant	NM_000188.3(HK1):c.679G>A (p.Gly227Ser)	not provided [RCV003667644]	uncertain significance	10	69369324	69369324	Human		name
405196387	CV2976040	single nucleotide variant	NM_000188.3(HK1):c.324G>T (p.Glu108Asp)	not provided [RCV003677703]	uncertain significance	10	69359994	69359994	Human		name
405247648	CV2976716	single nucleotide variant	NM_000188.3(HK1):c.691G>T (p.Gly231Cys)	not provided [RCV003685712]	uncertain significance	10	69369336	69369336	Human		name
405238933	CV3081460	single nucleotide variant	NM_000188.3(HK1):c.589G>C (p.Gly197Arg)	not provided [RCV003736520]	uncertain significance	10	69368629	69368629	Human		name
405186944	CV3124371	single nucleotide variant	NM_000188.3(HK1):c.298G>C (p.Glu100Gln)	not provided [RCV003820570]	uncertain significance	10	69359968	69359968	Human		name
405263049	CV3188487	single nucleotide variant	NM_000188.3(HK1):c.409T>A (p.Phe137Ile)	Retinal dystrophy [RCV003889551]	likely pathogenic	10	69364816	69364816	Human	2	name
405744801	CV3226151	single nucleotide variant	NM_000188.3(HK1):c.761G>A (p.Arg254Lys)	Neurodevelopmental disorder with visual defects and brain anomalies [RCV003991142]	uncertain significance	10	69369510	69369510	Human	1	name
596944816	CV3409005	single nucleotide variant	NM_000188.3(HK1):c.328G>A (p.Glu110Lys)	Retinal dystrophy [RCV004817658]	uncertain significance	10	69359998	69359998	Human	2	name
407426385	CV3409919	single nucleotide variant	NM_000188.3(HK1):c.792T>G (p.Phe264Leu)	not provided [RCV004585851]	uncertain significance	10	69369541	69369541	Human		name
407527414	CV3437437	single nucleotide variant	NM_000188.3(HK1):c.553G>A (p.Val185Met)	Inborn genetic diseases [RCV004632786]	uncertain significance	10	69368593	69368593	Human	1	name
408385298	CV3520102	single nucleotide variant	NM_000188.3(HK1):c.533G>T (p.Ser178Ile)	not provided [RCV004759923]	uncertain significance	10	69368573	69368573	Human		name
596931052	CV3529895	single nucleotide variant	NM_000188.3(HK1):c.430A>G (p.Lys144Glu)	not provided [RCV004780945]	uncertain significance	10	69364837	69364837	Human		name
597691478	CV3682620	single nucleotide variant	NM_000188.3(HK1):c.532A>C (p.Ser178Arg)	Inborn genetic diseases [RCV004985844]	uncertain significance	10	69368572	69368572	Human	1	name
597693131	CV3682622	single nucleotide variant	NM_000188.3(HK1):c.476A>T (p.Gln159Leu)	Inborn genetic diseases [RCV004985846]	uncertain significance	10	69364883	69364883	Human	1	name
597851401	CV3737529	single nucleotide variant	NM_000188.3(HK1):c.919C>T (p.Arg307Ter)	not provided [RCV005066302]	pathogenic	10	69376977	69376977	Human		name
597973905	CV3801622	single nucleotide variant	NM_000188.3(HK1):c.659A>T (p.Asp220Val)	not provided [RCV005143611]	uncertain significance	10	69369304	69369304	Human		name
597952034	CV3815685	single nucleotide variant	NM_000188.3(HK1):c.499A>G (p.Ile167Val)	not provided [RCV005161438]	uncertain significance	10	69368539	69368539	Human		name
597863279	CV3822786	single nucleotide variant	NM_000188.3(HK1):c.586C>T (p.Arg196Ter)	not provided [RCV005175318]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	10	69368626	69368626	Human		name
598248399	CV3975237	single nucleotide variant	NM_000188.3(HK1):c.505A>G (p.Ile169Val)	Inborn genetic diseases [RCV005345439]	uncertain significance	10	69368545	69368545	Human	1	name
26917256	CV837151	single nucleotide variant	NM_000188.3(HK1):c.308A>G (p.Gln103Arg)	not provided [RCV001041599]	uncertain significance	10	69359978	69359978	Human		name
26917035	CV837152	single nucleotide variant	NM_000188.3(HK1):c.530C>T (p.Ala177Val)	Inborn genetic diseases [RCV003243416]\|not provided [RCV001041267]\|not specified [RCV005418961]	uncertain significance	10	69368570	69368570	Human	1	name
26899381	CV837153	single nucleotide variant	NM_000188.3(HK1):c.611T>C (p.Val204Ala)	not provided [RCV001067146]	uncertain significance	10	69369256	69369256	Human		name
26891533	CV837157	deletion	NM_000188.3(HK1):c.1456del (p.Glu486fs)	not provided [RCV001060592]	pathogenic\|uncertain significance	10	69382676	69382676	Human		name
26910718	CV856668	single nucleotide variant	NM_000188.3(HK1):c.797A>G (p.Asp266Gly)	Retinal dystrophy [RCV001075359]	uncertain significance	10	69369546	69369546	Human	2	name
38466894	CV935138	single nucleotide variant	NM_000188.3(HK1):c.937A>G (p.Met313Val)	not provided [RCV001201927]	uncertain significance	10	69376995	69376995	Human		name
38493947	CV956141	single nucleotide variant	NM_000188.3(HK1):c.403G>C (p.Gly135Arg)	not provided [RCV001241016]	uncertain significance	10	69364810	69364810	Human		name
38496075	CV956142	single nucleotide variant	NM_000188.3(HK1):c.610G>A (p.Val204Ile)	not provided [RCV001242252]	uncertain significance	10	69369255	69369255	Human		name
41405722	CV981708	single nucleotide variant	NM_000188.3(HK1):c.949G>A (p.Gly317Ser)	Charcot-Marie-Tooth disease type 4G [RCV002504416]\|Inborn genetic diseases [RCV004035548]\|not provided [RCV001813157]	uncertain significance	10	69377007	69377007	Human	2	name
126741568	CV1009133	single nucleotide variant	NM_000188.3(HK1):c.1187G>A (p.Arg396His)	Inborn genetic diseases [RCV004034318]\|not provided [RCV001314539]	uncertain significance	10	69380017	69380017	Human	1	name
126741276	CV1009134	single nucleotide variant	NM_000188.3(HK1):c.1256C>T (p.Thr419Met)	Inborn genetic diseases [RCV004987057]\|not provided [RCV001314495]	uncertain significance	10	69380086	69380086	Human	1	name
126762401	CV1009136	single nucleotide variant	NM_000188.3(HK1):c.1851C>G (p.Ile617Met)	not provided [RCV001318923]	uncertain significance	10	69386334	69386334	Human		name
126768082	CV1009137	single nucleotide variant	NM_000188.3(HK1):c.2465T>C (p.Val822Ala)	Retinal dystrophy [RCV003888022]\|not provided [RCV001321155]	uncertain significance	10	69398684	69398684	Human	2	name
126768404	CV1009138	single nucleotide variant	NM_000188.3(HK1):c.2510G>A (p.Gly837Asp)	not provided [RCV001321346]	uncertain significance	10	69398729	69398729	Human		name
126727013	CV1017303	single nucleotide variant	NM_000188.3(HK1):c.2165G>A (p.Arg722Lys)	Hemolytic anemia due to hexokinase deficiency [RCV001332259]\|not provided [RCV001865748]	uncertain significance	10	69392254	69392254	Human	2	name
126727018	CV1017304	single nucleotide variant	NM_000188.3(HK1):c.2692G>A (p.Gly898Ser)	Neurodevelopmental disorder with visual defects and brain anomalies [RCV001332260]\|not provided [RCV002546542]	uncertain significance	10	69401073	69401073	Human	1	name
126733373	CV1020746	single nucleotide variant	NM_000188.3(HK1):c.2519C>T (p.Ala840Val)	Hemolytic anemia due to hexokinase deficiency [RCV001334300]\|not provided [RCV002546679]	uncertain significance	10	69398738	69398738	Human	2	name
126764330	CV1029697	single nucleotide variant	NM_000188.3(HK1):c.1015G>A (p.Val339Met)	not provided [RCV001341620]	conflicting interpretations of pathogenicity\|uncertain significance	10	69377073	69377073	Human		name
126745437	CV1029698	single nucleotide variant	NM_000188.3(HK1):c.1210C>T (p.Pro404Ser)	not provided [RCV001351404]	uncertain significance	10	69380040	69380040	Human		name
126745640	CV1029699	single nucleotide variant	NM_000188.3(HK1):c.2126G>T (p.Trp709Leu)	not provided [RCV001351424]	uncertain significance	10	69392215	69392215	Human		name
126914465	CV1037982	single nucleotide variant	NM_000188.3(HK1):c.1174G>A (p.Ala392Thr)	not provided [RCV001358273]	uncertain significance	10	69380004	69380004	Human		name
126911159	CV1037983	single nucleotide variant	NM_000188.3(HK1):c.2407A>G (p.Ile803Val)	not provided [RCV001355077]	uncertain significance	10	69398626	69398626	Human		name
126916113	CV1046701	single nucleotide variant	NM_000188.3(HK1):c.1057A>C (p.Lys353Gln)	not provided [RCV001360386]	uncertain significance	10	69379887	69379887	Human		name
126909672	CV1046702	single nucleotide variant	NM_000188.3(HK1):c.1148C>T (p.Ala383Val)	not provided [RCV001368571]	uncertain significance	10	69379978	69379978	Human		name
126924231	CV1046703	single nucleotide variant	NM_000188.3(HK1):c.1297C>T (p.Arg433Cys)	not provided [RCV001366792]	uncertain significance	10	69382518	69382518	Human		name
126918638	CV1046704	single nucleotide variant	NM_000188.3(HK1):c.1402C>T (p.Arg468Trp)	HK1-related disorder [RCV004550083]\|not provided [RCV001361839]	uncertain significance	10	69382623	69382623	Human		name , trait , alternate_id
126921096	CV1046705	single nucleotide variant	NM_000188.3(HK1):c.1474C>T (p.Arg492Trp)	not provided [RCV001374192]	uncertain significance	10	69382695	69382695	Human		name
126918048	CV1046706	single nucleotide variant	NM_000188.3(HK1):c.2536C>G (p.Arg846Gly)	Inborn genetic diseases [RCV003169802]\|Macular dystrophy [RCV001587373]\|not provided [RCV001361510]	uncertain significance	10	69398755	69398755	Human	3	name
127289709	CV1152439	single nucleotide variant	NM_000188.3(HK1):c.1274G>A (p.Arg425Gln)	Neurodevelopmental disorder with visual defects and brain anomalies [RCV004794540]\|not provided [RCV001509388]	uncertain significance	10	69382495	69382495	Human	1	name
127289713	CV1152440	single nucleotide variant	NM_000188.3(HK1):c.1840G>A (p.Gly614Arg)	not provided [RCV001509389]	uncertain significance	10	69386323	69386323	Human		name
150536063	CV1312250	single nucleotide variant	NM_000188.3(HK1):c.1480G>A (p.Glu494Lys)	Neurodevelopmental disorder [RCV001780012]\|not provided [RCV002541112]	uncertain significance	10	69382701	69382701	Human	1	name
151349181	CV1324369	single nucleotide variant	NM_000188.3(HK1):c.1525G>A (p.Val509Ile)	Retinitis pigmentosa 79 [RCV001808286]	uncertain significance	10	69382746	69382746	Human	1	name
151352771	CV1326013	single nucleotide variant	NM_000188.3(HK1):c.2506G>A (p.Ala836Thr)	not provided [RCV001815705]	uncertain significance	10	69398725	69398725	Human		name
151868481	CV1338565	single nucleotide variant	NM_000188.3(HK1):c.1406A>G (p.Gln469Arg)	not provided [RCV001884835]	uncertain significance	10	69382627	69382627	Human		name
151771163	CV1340237	single nucleotide variant	NM_000188.3(HK1):c.1705G>A (p.Gly569Ser)	not provided [RCV001874461]	uncertain significance	10	69384467	69384467	Human		name
151810837	CV1345199	single nucleotide variant	NM_000188.3(HK1):c.1448T>C (p.Met483Thr)	not provided [RCV001878253]	uncertain significance	10	69382669	69382669	Human		name
151722955	CV1346701	single nucleotide variant	NM_000188.3(HK1):c.1561G>A (p.Asp521Asn)	Retinal dystrophy [RCV004816852]\|not provided [RCV001966235]	uncertain significance	10	69382782	69382782	Human	2	name
151857062	CV1347948	single nucleotide variant	NM_000188.3(HK1):c.1514A>G (p.Asn505Ser)	not provided [RCV001979655]	uncertain significance	10	69382735	69382735	Human		name
151667600	CV1353975	single nucleotide variant	NM_000188.3(HK1):c.1240G>C (p.Gly414Arg)	not provided [RCV001963800]	likely pathogenic	10	69380070	69380070	Human		name
151734865	CV1354629	single nucleotide variant	NM_000188.3(HK1):c.1321C>T (p.Arg441Cys)	not provided [RCV001892635]	uncertain significance	10	69382542	69382542	Human		name
151865006	CV1370901	single nucleotide variant	NM_000188.3(HK1):c.1725T>G (p.Phe575Leu)	not provided [RCV001884424]	uncertain significance	10	69384801	69384801	Human		name
151803356	CV1375478	single nucleotide variant	NM_000188.3(HK1):c.2380C>T (p.Arg794Ter)	not provided [RCV001953133]	pathogenic\|uncertain significance	10	69398599	69398599	Human		name
151820193	CV1378342	single nucleotide variant	NM_000188.3(HK1):c.1513A>G (p.Asn505Asp)	not provided [RCV002029816]	uncertain significance	10	69382734	69382734	Human		name
151739683	CV1390246	single nucleotide variant	NM_000188.3(HK1):c.1520C>T (p.Ala507Val)	not provided [RCV001893145]	uncertain significance	10	69382741	69382741	Human		name
151866130	CV1392876	single nucleotide variant	NM_000188.3(HK1):c.1475G>A (p.Arg492Gln)	not provided [RCV001939183]	uncertain significance	10	69382696	69382696	Human		name
151752015	CV1397806	single nucleotide variant	NM_000188.3(HK1):c.1159G>A (p.Ala387Thr)	not provided [RCV001969281]	uncertain significance	10	69379989	69379989	Human		name
151711958	CV1401529	single nucleotide variant	NM_000188.3(HK1):c.1410A>G (p.Ile470Met)	Inborn genetic diseases [RCV004040405]\|not provided [RCV001964479]	uncertain significance	10	69382631	69382631	Human	1	name
151722287	CV1406630	single nucleotide variant	NM_000188.3(HK1):c.2007G>T (p.Glu669Asp)	not provided [RCV002003848]	uncertain significance	10	69389268	69389268	Human		name
151722395	CV1406643	single nucleotide variant	NM_000188.3(HK1):c.1084G>C (p.Glu362Gln)	not provided [RCV002003859]	uncertain significance	10	69379914	69379914	Human		name
151843706	CV1408799	single nucleotide variant	NM_000188.3(HK1):c.1460T>C (p.Val487Ala)	not provided [RCV002015647]	uncertain significance	10	69382681	69382681	Human		name
151880423	CV1411336	single nucleotide variant	NM_000188.3(HK1):c.2278G>A (p.Asp760Asn)	not provided [RCV002020076]	uncertain significance	10	69395008	69395008	Human		name
151667464	CV1414393	single nucleotide variant	NM_000188.3(HK1):c.1919C>T (p.Ala640Val)	Retinal dystrophy [RCV003888362]\|not provided [RCV001870599]	uncertain significance	10	69386402	69386402	Human	2	name
151709914	CV1433423	single nucleotide variant	NM_000188.3(HK1):c.2119A>G (p.Met707Val)	not provided [RCV002001741]	uncertain significance	10	69392208	69392208	Human		name
151716019	CV1434932	single nucleotide variant	NM_000188.3(HK1):c.1537C>T (p.Pro513Ser)	not provided [RCV001890340]	uncertain significance	10	69382758	69382758	Human		name
151795564	CV1437661	single nucleotide variant	NM_000188.3(HK1):c.2728C>T (p.Arg910Trp)	not provided [RCV001876907]	uncertain significance	10	69401109	69401109	Human		name
151841425	CV1438218	single nucleotide variant	NM_000188.3(HK1):c.1322G>A (p.Arg441His)	not provided [RCV001921579]	uncertain significance	10	69382543	69382543	Human		name
151757051	CV1443469	single nucleotide variant	NM_000188.3(HK1):c.2146G>A (p.Gly716Arg)	not provided [RCV001872825]	uncertain significance	10	69392235	69392235	Human		name
151780088	CV1446215	single nucleotide variant	NM_000188.3(HK1):c.2744C>G (p.Ala915Gly)	not provided [RCV001989052]	uncertain significance	10	69401125	69401125	Human		name
151821670	CV1452348	single nucleotide variant	NM_000188.3(HK1):c.1967A>G (p.Asn656Ser)	not provided [RCV002049862]	uncertain significance	10	69389228	69389228	Human		name
151818340	CV1453529	single nucleotide variant	NM_000188.3(HK1):c.1881C>G (p.Asp627Glu)	not provided [RCV001900633]	uncertain significance	10	69386364	69386364	Human		name
151828791	CV1462198	single nucleotide variant	NM_000188.3(HK1):c.2741A>G (p.Glu914Gly)	not provided [RCV001993502]	uncertain significance	10	69401122	69401122	Human		name
151770096	CV1464797	single nucleotide variant	NM_000188.3(HK1):c.2536C>T (p.Arg846Cys)	not provided [RCV002025276]	uncertain significance	10	69398755	69398755	Human		name
151819037	CV1466092	single nucleotide variant	NM_000188.3(HK1):c.2639A>C (p.Lys880Thr)	not provided [RCV001900698]	uncertain significance	10	69401020	69401020	Human		name
151748652	CV1478881	single nucleotide variant	NM_000188.3(HK1):c.1533G>A (p.Met511Ile)	not provided [RCV002023133]	uncertain significance	10	69382754	69382754	Human		name
151726496	CV1482280	single nucleotide variant	NM_000188.3(HK1):c.2146G>C (p.Gly716Arg)	not provided [RCV002020840]	uncertain significance	10	69392235	69392235	Human		name
151846444	CV1483772	single nucleotide variant	NM_000188.3(HK1):c.2560C>G (p.Leu854Val)	not provided [RCV001903498]	uncertain significance	10	69398779	69398779	Human		name
151892536	CV1493595	single nucleotide variant	NM_000188.3(HK1):c.2128G>A (p.Gly710Arg)	not provided [RCV001944215]	uncertain significance	10	69392217	69392217	Human		name
151885127	CV1494397	single nucleotide variant	NM_000188.3(HK1):c.2719G>A (p.Val907Met)	not provided [RCV001962478]	uncertain significance	10	69401100	69401100	Human		name
151864828	CV1494952	single nucleotide variant	NM_000188.3(HK1):c.2558G>A (p.Arg853His)	not provided [RCV001980585]	uncertain significance	10	69398777	69398777	Human		name
151766837	CV1496082	single nucleotide variant	NM_000188.3(HK1):c.1691T>C (p.Ile564Thr)	not provided [RCV001863692]	uncertain significance	10	69384453	69384453	Human		name
151734076	CV1497647	single nucleotide variant	NM_000188.3(HK1):c.1295G>C (p.Arg432Thr)	not provided [RCV001984498]	uncertain significance	10	69382516	69382516	Human		name
151759864	CV1500894	single nucleotide variant	NM_000188.3(HK1):c.2381G>A (p.Arg794Gln)	Neurodevelopmental disorder with visual defects and brain anomalies [RCV003147708]\|not provided [RCV001987136]\|not specified [RCV003987941]	uncertain significance	10	69398600	69398600	Human	1	name
151721163	CV1504589	single nucleotide variant	NM_000188.3(HK1):c.2077G>A (p.Val693Met)	Inborn genetic diseases [RCV002569153]\|not provided [RCV001983099]	uncertain significance	10	69392166	69392166	Human	1	name
151864958	CV1509639	single nucleotide variant	NM_000188.3(HK1):c.1069A>T (p.Thr357Ser)	not provided [RCV001924487]	uncertain significance	10	69379899	69379899	Human		name
151843884	CV1510995	single nucleotide variant	NM_000188.3(HK1):c.1986G>C (p.Met662Ile)	not provided [RCV001957088]	uncertain significance	10	69389247	69389247	Human		name
151794913	CV1514737	single nucleotide variant	NM_000188.3(HK1):c.1034A>C (p.Asn345Thr)	not provided [RCV002011038]	uncertain significance	10	69379864	69379864	Human		name
151810967	CV1516623	single nucleotide variant	NM_000188.3(HK1):c.1636C>T (p.Arg546Cys)	not provided [RCV002012428]	uncertain significance	10	69384398	69384398	Human		name
152158069	CV1630687	single nucleotide variant	NM_000188.3(HK1):c.1838C>T (p.Ala613Val)	not provided [RCV002122714]	benign	10	69384914	69384914	Human		name
152999504	CV1679863	single nucleotide variant	NM_000188.3(HK1):c.1298G>A (p.Arg433His)	Retinitis pigmentosa 79 [RCV002251252]\|not provided [RCV003094089]	uncertain significance	10	69382519	69382519	Human	1	name
153303808	CV1686472	single nucleotide variant	NM_000188.3(HK1):c.2159A>T (p.Asp720Val)	Inborn genetic diseases [RCV004631985]\|not provided [RCV002261906]	uncertain significance	10	69392248	69392248	Human	1	name
153301023	CV1688863	single nucleotide variant	NM_000188.3(HK1):c.1119C>A (p.His373Gln)	Inborn genetic diseases [RCV004982960]\|Neurodevelopmental disorder with visual defects and brain anomalies [RCV002266591]	uncertain significance	10	69379949	69379949	Human	2	name
153348454	CV1692491	single nucleotide variant	NM_000188.3(HK1):c.1240G>A (p.Gly414Arg)	Neurodevelopmental delay [RCV002274344]\|Neurodevelopmental disorder with visual defects and brain anomalies [RCV005416222]\|Retinitis pigmentosa 79 [RCV004770434]\|not provided [RCV003096169]	pathogenic\|likely pathogenic	10	69380070	69380070	Human	3	name
155744440	CV1771328	single nucleotide variant	NM_000188.3(HK1):c.1684A>C (p.Ile562Leu)	not provided [RCV002303182]	uncertain significance	10	69384446	69384446	Human		name
155715405	CV1774112	single nucleotide variant	NM_000188.3(HK1):c.2428A>G (p.Asn810Asp)	not provided [RCV002296394]	uncertain significance	10	69398647	69398647	Human		name
155705080	CV1774931	single nucleotide variant	NM_000188.3(HK1):c.1788G>A (p.Met596Ile)	not provided [RCV002300175]	uncertain significance	10	69384864	69384864	Human		name
155721851	CV1776474	single nucleotide variant	NM_000188.3(HK1):c.2021T>C (p.Val674Ala)	not provided [RCV002296735]	uncertain significance	10	69389282	69389282	Human		name
155746991	CV1778123	single nucleotide variant	NM_000188.3(HK1):c.1826C>G (p.Thr609Arg)	not provided [RCV002303496]	uncertain significance	10	69384902	69384902	Human		name
155748940	CV1778967	single nucleotide variant	NM_000188.3(HK1):c.1141C>T (p.Arg381Cys)	not provided [RCV002304083]	uncertain significance	10	69379971	69379971	Human		name
155797272	CV1859272	single nucleotide variant	NM_000188.3(HK1):c.2401C>T (p.Arg801Trp)	HK1-related disorder [RCV004725290]\|Neurodevelopmental disorder with visual defects and brain anomalies [RCV004796735]\|not provided [RCV002464900]	pathogenic\|likely pathogenic\|uncertain significance	10	69398620	69398620	Human	6	name , trait , alternate_id
156419427	CV1932867	single nucleotide variant	NM_000188.3(HK1):c.1073G>A (p.Arg358His)	Inborn genetic diseases [RCV003368031]\|not provided [RCV002612660]	uncertain significance	10	69379903	69379903	Human	1	name
156344037	CV1958058	single nucleotide variant	NM_000188.3(HK1):c.1520C>A (p.Ala507Asp)	not provided [RCV002580666]	uncertain significance	10	69382741	69382741	Human		name
156415031	CV1964949	single nucleotide variant	NM_000188.3(HK1):c.2069T>C (p.Met690Thr)	not provided [RCV002588939]	uncertain significance	10	69392158	69392158	Human		name
156127480	CV1969495	single nucleotide variant	NM_000188.3(HK1):c.1057A>G (p.Lys353Glu)	not provided [RCV002593366]	uncertain significance	10	69379887	69379887	Human		name
156354784	CV1974979	single nucleotide variant	NM_000188.3(HK1):c.1373C>T (p.Ala458Val)	not provided [RCV002602083]	uncertain significance	10	69382594	69382594	Human		name
155964731	CV1977812	single nucleotide variant	NM_000188.3(HK1):c.1540T>G (p.Ser514Ala)	not provided [RCV002616901]	uncertain significance	10	69382761	69382761	Human		name
156396676	CV1980581	single nucleotide variant	NM_000188.3(HK1):c.1418C>T (p.Thr473Ile)	not provided [RCV002605183]	uncertain significance	10	69382639	69382639	Human		name
156393580	CV1983437	single nucleotide variant	NM_000188.3(HK1):c.1637G>A (p.Arg546His)	Retinal dystrophy [RCV003889135]\|not provided [RCV002604909]	uncertain significance	10	69384399	69384399	Human	2	name
156172771	CV2003878	single nucleotide variant	NM_000188.3(HK1):c.2126G>C (p.Trp709Ser)	not provided [RCV002642769]	uncertain significance	10	69392215	69392215	Human		name
156360146	CV2006971	single nucleotide variant	NM_000188.3(HK1):c.1849A>G (p.Ile617Val)	Retinal dystrophy [RCV003889150]\|not provided [RCV002676193]	benign\|uncertain significance	10	69386332	69386332	Human	2	name
156365989	CV2010737	single nucleotide variant	NM_000188.3(HK1):c.1873G>A (p.Ala625Thr)	not provided [RCV002676562]	uncertain significance	10	69386356	69386356	Human		name
155956017	CV2014305	single nucleotide variant	NM_000188.3(HK1):c.1894G>A (p.Asp632Asn)	not provided [RCV002686269]	uncertain significance	10	69386377	69386377	Human		name
156297579	CV2017139	single nucleotide variant	NM_000188.3(HK1):c.2191G>A (p.Glu731Lys)	not provided [RCV002715912]	uncertain significance	10	69392280	69392280	Human		name
156225063	CV2037891	single nucleotide variant	NM_000188.3(HK1):c.2537G>T (p.Arg846Leu)	not provided [RCV002790781]	uncertain significance	10	69398756	69398756	Human		name
156096568	CV2050890	single nucleotide variant	NM_000188.3(HK1):c.1196A>G (p.Asp399Gly)	Retinal dystrophy [RCV003889165]\|not provided [RCV002824393]	uncertain significance	10	69380026	69380026	Human	2	name
156236847	CV2056328	single nucleotide variant	NM_000188.3(HK1):c.2068A>T (p.Met690Leu)	not provided [RCV002791204]	uncertain significance	10	69392157	69392157	Human		name
156034690	CV2059337	single nucleotide variant	NM_000188.3(HK1):c.2267A>G (p.Asn756Ser)	not provided [RCV002796202]	uncertain significance	10	69394997	69394997	Human		name
156270145	CV2059792	single nucleotide variant	NM_000188.3(HK1):c.1484T>C (p.Met495Thr)	not provided [RCV002806632]	uncertain significance	10	69382705	69382705	Human		name
156079280	CV2098545	single nucleotide variant	NM_000188.3(HK1):c.2093G>C (p.Gly698Ala)	not provided [RCV002912644]	uncertain significance	10	69392182	69392182	Human		name
156094380	CV2106365	single nucleotide variant	NM_000188.3(HK1):c.2263C>T (p.Arg755Cys)	Retinal dystrophy [RCV004817143]\|not provided [RCV002952486]	uncertain significance	10	69394993	69394993	Human	2	name
156309540	CV2109439	single nucleotide variant	NM_000188.3(HK1):c.2740G>A (p.Glu914Lys)	not provided [RCV002922991]	uncertain significance	10	69401121	69401121	Human		name
156366580	CV2116617	single nucleotide variant	NM_000188.3(HK1):c.2643A>T (p.Glu881Asp)	Inborn genetic diseases [RCV004067140]\|not provided [RCV002941996]	uncertain significance	10	69401024	69401024	Human	1	name
156300052	CV2149632	single nucleotide variant	NM_000188.3(HK1):c.2473G>A (p.Val825Met)	Neurodevelopmental disorder with visual defects and brain anomalies [RCV004817168]\|not provided [RCV003028046]	uncertain significance	10	69398692	69398692	Human	1	name
156120291	CV2150868	single nucleotide variant	NM_000188.3(HK1):c.2569A>T (p.Thr857Ser)	not provided [RCV003021770]	uncertain significance	10	69398788	69398788	Human		name
155967032	CV2156114	single nucleotide variant	NM_000188.3(HK1):c.2557C>T (p.Arg853Cys)	Inborn genetic diseases [RCV004068544]\|not provided [RCV003015754]	uncertain significance	10	69398776	69398776	Human	1	name
155949837	CV2158856	single nucleotide variant	NM_000188.3(HK1):c.1610A>G (p.Asn537Ser)	not provided [RCV003014788]	uncertain significance	10	69384372	69384372	Human		name
156074432	CV2160163	single nucleotide variant	NM_000188.3(HK1):c.1678T>C (p.Tyr560His)	not provided [RCV003020142]	uncertain significance	10	69384440	69384440	Human		name
156308922	CV2163861	single nucleotide variant	NM_000188.3(HK1):c.1119C>G (p.His373Gln)	not provided [RCV003045920]	uncertain significance	10	69379949	69379949	Human		name
156311444	CV2165445	single nucleotide variant	NM_000188.3(HK1):c.1487A>C (p.Glu496Ala)	not provided [RCV003028605]	uncertain significance	10	69382708	69382708	Human		name
156221781	CV2168365	single nucleotide variant	NM_000188.3(HK1):c.2483G>C (p.Arg828Thr)	not provided [RCV003042751]	uncertain significance	10	69398702	69398702	Human		name
156114261	CV2172466	single nucleotide variant	NM_000188.3(HK1):c.1163C>T (p.Ala388Val)	not provided [RCV003039065]	uncertain significance	10	69379993	69379993	Human		name
156361305	CV2180378	single nucleotide variant	NM_000188.3(HK1):c.1447A>G (p.Met483Val)	not provided [RCV003049041]	uncertain significance	10	69382668	69382668	Human		name
156132472	CV2182231	single nucleotide variant	NM_000188.3(HK1):c.1958C>T (p.Ala653Val)	not provided [RCV003055890]	uncertain significance	10	69389219	69389219	Human		name
156365026	CV2192029	single nucleotide variant	NM_000188.3(HK1):c.1439C>T (p.Thr480Ile)	not provided [RCV003065893]	uncertain significance	10	69382660	69382660	Human		name
156383747	CV2220184	single nucleotide variant	NM_000188.3(HK1):c.1889G>C (p.Gly630Ala)	Inborn genetic diseases [RCV002723067]	uncertain significance	10	69386372	69386372	Human	1	name
156287573	CV2288410	single nucleotide variant	NM_000188.3(HK1):c.2678C>A (p.Ser893Tyr)	Inborn genetic diseases [RCV002878616]	uncertain significance	10	69401059	69401059	Human	1	name
155954391	CV2303391	single nucleotide variant	NM_000188.3(HK1):c.1072C>T (p.Arg358Cys)	Inborn genetic diseases [RCV002905411]	uncertain significance	10	69379902	69379902	Human	1	name
156438327	CV2401563	single nucleotide variant	NM_000188.3(HK1):c.1178T>C (p.Ile393Thr)	not provided [RCV003108267]	uncertain significance	10	69380008	69380008	Human		name
156435941	CV2402038	single nucleotide variant	NM_001358263.1(HK1):c.28G>T (p.Ala10Ser)	not provided [RCV003120197]	likely benign	10	69295633	69295633	Human		name
243060001	CV2407728	single nucleotide variant	NM_000188.3(HK1):c.2198C>T (p.Ser733Phe)	not provided [RCV003135582]	uncertain significance	10	69392287	69392287	Human		name
243060002	CV2407729	single nucleotide variant	NM_000188.3(HK1):c.1829G>A (p.Ser610Asn)	not provided [RCV003135583]	uncertain significance	10	69384905	69384905	Human		name
243052959	CV2407730	single nucleotide variant	NM_000188.3(HK1):c.2714C>A (p.Thr905Lys)	not provided [RCV003131137]	uncertain significance	10	69401095	69401095	Human		name
243060003	CV2407732	single nucleotide variant	NM_000188.3(HK1):c.1894G>C (p.Asp632His)	not provided [RCV003135584]	uncertain significance	10	69386377	69386377	Human		name
243064016	CV2407734	single nucleotide variant	NM_000188.3(HK1):c.1634T>A (p.Ile545Asn)	not provided [RCV003142574]	uncertain significance	10	69384396	69384396	Human		name
243052980	CV2407736	single nucleotide variant	NM_000188.3(HK1):c.1592T>A (p.Leu531Gln)	not provided [RCV003131140]	uncertain significance	10	69384354	69384354	Human		name
243060006	CV2407738	single nucleotide variant	NM_000188.3(HK1):c.1400A>T (p.His467Leu)	not provided [RCV003135587]	uncertain significance	10	69382621	69382621	Human		name
329375517	CV2431549	single nucleotide variant	NM_000188.3(HK1):c.2619A>T (p.Arg873Ser)	Inborn genetic diseases [RCV003173852]\|not provided [RCV005101223]	uncertain significance	10	69401000	69401000	Human	1	name
329375410	CV2468577	single nucleotide variant	NM_000188.3(HK1):c.2150G>A (p.Cys717Tyr)	Inborn genetic diseases [RCV003211147]	uncertain significance	10	69392239	69392239	Human	1	name
329351281	CV2476439	single nucleotide variant	NM_000188.3(HK1):c.1732A>G (p.Ile578Val)	not provided [RCV003222671]	uncertain significance	10	69384808	69384808	Human		name
329951766	CV2671427	single nucleotide variant	NM_000188.3(HK1):c.1370C>A (p.Thr457Lys)	Neurodevelopmental disorder with visual defects and brain anomalies [RCV003236637]	likely pathogenic	10	69382591	69382591	Human	1	name
401780476	CV2716790	single nucleotide variant	NM_000188.3(HK1):c.2156A>C (p.Asp719Ala)	Inborn genetic diseases [RCV003288050]	uncertain significance	10	69392245	69392245	Human	1	name
401724486	CV2735727	single nucleotide variant	NM_000188.3(HK1):c.1489C>G (p.Leu497Val)	not provided [RCV003312170]	uncertain significance	10	69382710	69382710	Human		name
401797061	CV2740833	single nucleotide variant	NM_000188.3(HK1):c.1739C>T (p.Ser580Phe)	not provided [RCV003321997]	uncertain significance	10	69384815	69384815	Human		name
401797309	CV2742135	single nucleotide variant	NM_000188.3(HK1):c.1969G>A (p.Asp657Asn)	not provided [RCV003661043]\|not specified [RCV003324313]	pathogenic\|uncertain significance	10	69389230	69389230	Human		name
401830432	CV2748134	single nucleotide variant	NM_000188.3(HK1):c.2285C>T (p.Thr762Ile)	not provided [RCV003329741]	uncertain significance	10	69395015	69395015	Human		name
401891906	CV2775793	single nucleotide variant	NM_000188.3(HK1):c.2492C>T (p.Ala831Val)	Inborn genetic diseases [RCV003355147]\|not provided [RCV005104134]	uncertain significance	10	69398711	69398711	Human	1	name
401919227	CV2798205	single nucleotide variant	NM_000188.3(HK1):c.1343G>T (p.Gly448Val)	HK1-related disorder [RCV004550622]	uncertain significance	10	69382564	69382564	Human		name , trait , alternate_id
404979739	CV2850248	single nucleotide variant	NM_000188.3(HK1):c.2041G>A (p.Gly681Ser)	not provided [RCV003487901]	uncertain significance	10	69392130	69392130	Human		name
404979743	CV2850249	single nucleotide variant	NM_000188.3(HK1):c.1231G>A (p.Gly411Ser)	not provided [RCV003487902]	uncertain significance	10	69380061	69380061	Human		name
404979750	CV2850251	single nucleotide variant	NM_000188.3(HK1):c.1384C>T (p.Arg462Cys)	not provided [RCV003487904]	uncertain significance	10	69382605	69382605	Human		name
404979755	CV2850252	single nucleotide variant	NM_000188.3(HK1):c.1289C>T (p.Thr430Ile)	not provided [RCV003487905]	uncertain significance	10	69382510	69382510	Human		name
405090486	CV2859374	single nucleotide variant	NM_000188.3(HK1):c.1427A>C (p.His476Pro)	not provided [RCV003549866]	uncertain significance	10	69382648	69382648	Human		name
402496600	CV2875374	single nucleotide variant	NM_000188.3(HK1):c.2097C>G (p.Asp699Glu)	not provided [RCV003545482]	uncertain significance	10	69392186	69392186	Human		name
405022594	CV2877538	single nucleotide variant	NM_000188.3(HK1):c.2477T>C (p.Val826Ala)	not provided [RCV003577731]	uncertain significance	10	69398696	69398696	Human		name
405123471	CV2885225	single nucleotide variant	NM_000188.3(HK1):c.1115A>G (p.Gln372Arg)	not provided [RCV003559342]	uncertain significance	10	69379945	69379945	Human		name
405145953	CV2885242	single nucleotide variant	NM_000188.3(HK1):c.1936G>C (p.Glu646Gln)	not provided [RCV003561338]	uncertain significance	10	69389197	69389197	Human		name
405241564	CV2901431	single nucleotide variant	NM_000188.3(HK1):c.1802C>T (p.Thr601Met)	not provided [RCV003557508]	uncertain significance	10	69384878	69384878	Human		name
402472928	CV2908736	single nucleotide variant	NM_000188.3(HK1):c.2333C>T (p.Thr778Ile)	not provided [RCV003570887]	uncertain significance	10	69395063	69395063	Human		name
405030707	CV2926225	single nucleotide variant	NM_000188.3(HK1):c.1261C>T (p.Pro421Ser)	not provided [RCV003578338]	uncertain significance	10	69380091	69380091	Human		name
405145186	CV2949834	single nucleotide variant	NM_000188.3(HK1):c.1508C>G (p.Thr503Arg)	not provided [RCV003669606]	uncertain significance	10	69382729	69382729	Human		name
405167828	CV2950957	single nucleotide variant	NM_000188.3(HK1):c.1132G>A (p.Val378Ile)	not provided [RCV003675174]	uncertain significance	10	69379962	69379962	Human		name
405162340	CV2951305	single nucleotide variant	NM_000188.3(HK1):c.1172G>C (p.Gly391Ala)	not provided [RCV003670731]	uncertain significance	10	69380002	69380002	Human		name
405118684	CV2957409	single nucleotide variant	NM_000188.3(HK1):c.1129A>G (p.Ile377Val)	not provided [RCV003667203]	uncertain significance	10	69379959	69379959	Human		name
405126099	CV2958433	single nucleotide variant	NM_000188.3(HK1):c.2222A>G (p.Tyr741Cys)	not provided [RCV003667935]	uncertain significance	10	69394952	69394952	Human		name
405162872	CV2960354	single nucleotide variant	NM_000188.3(HK1):c.1837G>A (p.Ala613Thr)	not provided [RCV003674742]	uncertain significance	10	69384913	69384913	Human		name
405018409	CV2991929	single nucleotide variant	NM_000188.3(HK1):c.1573A>G (p.Asn525Asp)	not provided [RCV003694613]	uncertain significance	10	69384335	69384335	Human		name
8564525	CV29955	single nucleotide variant	NM_000188.3(HK1):c.1586T>C (p.Leu529Ser)	Hemolytic anemia due to hexokinase deficiency [RCV000016051]	pathogenic	10	69384348	69384348	Human	2	name
405007744	CV3006553	single nucleotide variant	NM_000188.3(HK1):c.2615C>G (p.Ser872Cys)	not provided [RCV003693726]	uncertain significance	10	69400996	69400996	Human		name
405134142	CV3018301	single nucleotide variant	NM_000188.3(HK1):c.2045G>A (p.Ser682Asn)	not provided [RCV003701890]	uncertain significance	10	69392134	69392134	Human		name
405144252	CV3056256	single nucleotide variant	NM_000188.3(HK1):c.1426C>A (p.His476Asn)	not provided [RCV003725914]	uncertain significance	10	69382647	69382647	Human		name
405051061	CV3081642	single nucleotide variant	NM_000188.3(HK1):c.1690A>G (p.Ile564Val)	not provided [RCV003740606]	uncertain significance	10	69384452	69384452	Human		name
402524905	CV3123575	single nucleotide variant	NM_000188.3(HK1):c.2335C>T (p.Arg779Trp)	not provided [RCV003825001]	uncertain significance	10	69395065	69395065	Human		name
405036712	CV3140578	single nucleotide variant	NM_000188.3(HK1):c.1499G>A (p.Arg500Lys)	not provided [RCV003831060]	uncertain significance	10	69382720	69382720	Human		name
405074315	CV3140668	single nucleotide variant	NM_000188.3(HK1):c.2230A>G (p.Met744Val)	not provided [RCV003833631]	uncertain significance	10	69394960	69394960	Human		name
405263050	CV3188488	single nucleotide variant	NM_000188.3(HK1):c.1013A>C (p.Asp338Ala)	Retinal dystrophy [RCV003889552]	benign	10	69377071	69377071	Human	2	name
405263051	CV3188489	single nucleotide variant	NM_000188.3(HK1):c.1120G>A (p.Val374Ile)	Retinal dystrophy [RCV003889553]	benign	10	69379950	69379950	Human	2	name
405262976	CV3188490	single nucleotide variant	NM_000188.3(HK1):c.1327C>T (p.Leu443Phe)	Retinal dystrophy [RCV003889554]	uncertain significance	10	69382548	69382548	Human	2	name
405262980	CV3188493	single nucleotide variant	NM_000188.3(HK1):c.2009C>A (p.Pro670His)	Retinal dystrophy [RCV003889557]	uncertain significance	10	69389270	69389270	Human	2	name
405262982	CV3188494	single nucleotide variant	NM_000188.3(HK1):c.2734C>T (p.Arg912Cys)	Retinal dystrophy [RCV003889558]	uncertain significance	10	69401115	69401115	Human	2	name
405292206	CV3192346	single nucleotide variant	NM_000188.3(HK1):c.1070C>T (p.Thr357Ile)	HK1-related disorder [RCV004551028]	uncertain significance	10	69379900	69379900	Human		name , trait , alternate_id
405790389	CV3266663	single nucleotide variant	NM_000188.3(HK1):c.2008C>A (p.Pro670Thr)	Inborn genetic diseases [RCV004399486]	uncertain significance	10	69389269	69389269	Human	1	name
405854198	CV3393827	single nucleotide variant	NM_000188.3(HK1):c.1237G>T (p.Asp413Tyr)	not provided [RCV004547053]	uncertain significance	10	69380067	69380067	Human		name
405854282	CV3393859	single nucleotide variant	NM_000188.3(HK1):c.2099A>G (p.Gln700Arg)	not provided [RCV004547085]	uncertain significance	10	69392188	69392188	Human		name
596945527	CV3407519	single nucleotide variant	NM_000188.3(HK1):c.1273C>T (p.Arg425Trp)	Retinal dystrophy [RCV004818612]	uncertain significance	10	69382494	69382494	Human	2	name
596939519	CV3407875	single nucleotide variant	NM_000188.3(HK1):c.2076C>G (p.Asn692Lys)	Retinal dystrophy [RCV004814335]	uncertain significance	10	69392165	69392165	Human	2	name
596942170	CV3408455	single nucleotide variant	NM_000188.3(HK1):c.1574A>G (p.Asn525Ser)	Retinal dystrophy [RCV004816126]\|not provided [RCV005101948]	uncertain significance	10	69384336	69384336	Human	2	name
407425268	CV3411193	single nucleotide variant	NM_000188.3(HK1):c.1634T>C (p.Ile545Thr)	not provided [RCV004588884]	uncertain significance	10	69384396	69384396	Human		name
407428077	CV3412333	single nucleotide variant	NM_000188.3(HK1):c.2240G>A (p.Gly747Asp)	not provided [RCV004593501]	uncertain significance	10	69394970	69394970	Human		name
407527412	CV3437436	single nucleotide variant	NM_000188.3(HK1):c.1403G>A (p.Arg468Gln)	Inborn genetic diseases [RCV004632785]	uncertain significance	10	69382624	69382624	Human	1	name
408394418	CV3518220	single nucleotide variant	NM_000188.3(HK1):c.2498T>C (p.Leu833Pro)	Hemolytic anemia due to hexokinase deficiency [RCV004759543]	uncertain significance	10	69398717	69398717	Human	2	name
408393523	CV3519840	single nucleotide variant	NM_000188.3(HK1):c.2212A>G (p.Lys738Glu)	not provided [RCV004764136]	uncertain significance	10	69392301	69392301	Human		name
408386920	CV3524294	single nucleotide variant	NM_000188.3(HK1):c.1372G>A (p.Ala458Thr)	not provided [RCV004768168]	uncertain significance	10	69382593	69382593	Human		name
408386922	CV3524295	single nucleotide variant	NM_000188.3(HK1):c.1339A>T (p.Ser447Cys)	not provided [RCV004768169]	uncertain significance	10	69382560	69382560	Human		name
408384259	CV3525941	duplication	NM_000188.3(HK1):c.2679dup (p.Glu894Ter)	not specified [RCV004766851]	uncertain significance	10	69401059	69401060	Human		name
596926089	CV3530692	single nucleotide variant	NM_000188.3(HK1):c.2231T>A (p.Met744Lys)	not provided [RCV004778277]	uncertain significance	10	69394961	69394961	Human		name
596932520	CV3539142	single nucleotide variant	NM_000188.3(HK1):c.1532T>C (p.Met511Thr)	not provided [RCV004793268]	uncertain significance	10	69382753	69382753	Human		name
596932521	CV3539143	single nucleotide variant	NM_000188.3(HK1):c.2741A>C (p.Glu914Ala)	not provided [RCV004793269]	uncertain significance	10	69401122	69401122	Human		name
597633277	CV3552974	single nucleotide variant	NM_000188.3(HK1):c.2260G>A (p.Val754Ile)	not provided [RCV004823804]	uncertain significance	10	69394990	69394990	Human		name
12742523	CV359832	single nucleotide variant	NM_000188.3(HK1):c.1370C>T (p.Thr457Met)	Charcot-Marie-Tooth disease type 4G [RCV000763213]\|Inborn genetic diseases [RCV001266327]\|Neurodevelopmental disorder with visual defects and brain anomalies [RCV000850129]\|not provided [RCV000413860]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	10	69382591	69382591	Human	3	name
597691484	CV3682621	single nucleotide variant	NM_000188.3(HK1):c.2525T>C (p.Val842Ala)	Inborn genetic diseases [RCV004985845]	uncertain significance	10	69398744	69398744	Human	1	name
617148440	CV3703364	single nucleotide variant	NM_000188.3(HK1):c.2678C>T (p.Ser893Phe)	Neurodevelopmental disorder with visual defects and brain anomalies [RCV005416229]	uncertain significance	10	69401059	69401059	Human	1	name
617148439	CV3703365	single nucleotide variant	NM_000188.3(HK1):c.1370C>G (p.Thr457Arg)	Neurodevelopmental disorder with visual defects and brain anomalies [RCV005416230]	likely pathogenic	10	69382591	69382591	Human	1	name
598122740	CV3703366	single nucleotide variant	NM_000188.3(HK1):c.2395C>A (p.Gln799Lys)	Neurodevelopmental disorder with visual defects and brain anomalies [RCV005416231]\|not provided [RCV005250383]	uncertain significance	10	69398614	69398614	Human	1	name
617148438	CV3703367	single nucleotide variant	NM_000188.3(HK1):c.2410C>T (p.Leu804Phe)	Neurodevelopmental disorder with visual defects and brain anomalies [RCV005416232]	uncertain significance	10	69398629	69398629	Human	1	name
617148437	CV3703368	single nucleotide variant	NM_000188.3(HK1):c.2448T>G (p.Ser816Arg)	Neurodevelopmental disorder with visual defects and brain anomalies [RCV005416233]	uncertain significance	10	69398667	69398667	Human	1	name
597842512	CV3703424	single nucleotide variant	NM_000188.3(HK1):c.1289C>G (p.Thr430Ser)	Retinitis pigmentosa [RCV005419819]\|not provided [RCV005061831]	uncertain significance	10	69382510	69382510	Human	2	name
597664603	CV3732540	single nucleotide variant	NM_000188.3(HK1):c.2609A>C (p.His870Pro)	not provided [RCV005004009]	uncertain significance	10	69398828	69398828	Human		name
597844901	CV3736189	single nucleotide variant	NM_000188.3(HK1):c.2264G>A (p.Arg755His)	not provided [RCV005065537]	uncertain significance	10	69394994	69394994	Human		name
597914549	CV3740646	single nucleotide variant	NM_000188.3(HK1):c.1655C>T (p.Thr552Met)	not provided [RCV005073983]	uncertain significance	10	69384417	69384417	Human		name
597882338	CV3745042	single nucleotide variant	NM_000188.3(HK1):c.1931G>A (p.Arg644Lys)	not provided [RCV005070067]	uncertain significance	10	69386414	69386414	Human		name
597966375	CV3751563	single nucleotide variant	NM_000188.3(HK1):c.2336G>A (p.Arg779Gln)	not provided [RCV005082932]	uncertain significance	10	69395066	69395066	Human		name
597955039	CV3754032	single nucleotide variant	NM_000188.3(HK1):c.1681G>A (p.Ala561Thr)	not provided [RCV005080075]	uncertain significance	10	69384443	69384443	Human		name
597931053	CV3789295	single nucleotide variant	NM_000188.3(HK1):c.2336G>T (p.Arg779Leu)	not provided [RCV005131576]	uncertain significance	10	69395066	69395066	Human		name
597951148	CV3798286	single nucleotide variant	NM_000188.3(HK1):c.1038G>C (p.Lys346Asn)	not provided [RCV005136066]	uncertain significance	10	69379868	69379868	Human		name
597975034	CV3798691	single nucleotide variant	NM_000188.3(HK1):c.1333T>A (p.Ser445Thr)	not provided [RCV005144279]	uncertain significance	10	69382554	69382554	Human		name
597974638	CV3802291	single nucleotide variant	NM_000188.3(HK1):c.2073G>T (p.Lys691Asn)	not provided [RCV005144068]	uncertain significance	10	69392162	69392162	Human		name
597971340	CV3802531	single nucleotide variant	NM_000188.3(HK1):c.2327T>C (p.Leu776Pro)	not provided [RCV005142129]	uncertain significance	10	69395057	69395057	Human		name
597920814	CV3807985	single nucleotide variant	NM_000188.3(HK1):c.2584G>A (p.Gly862Arg)	not provided [RCV005155693]	uncertain significance	10	69398803	69398803	Human		name
597920650	CV3811839	single nucleotide variant	NM_000188.3(HK1):c.2206G>T (p.Ala736Ser)	not provided [RCV005155670]	uncertain significance	10	69392295	69392295	Human		name
597956779	CV3818037	single nucleotide variant	NM_000188.3(HK1):c.1298G>T (p.Arg433Leu)	not provided [RCV005162488]	uncertain significance	10	69382519	69382519	Human		name
597882925	CV3834106	single nucleotide variant	NM_000188.3(HK1):c.2735G>A (p.Arg912His)	not provided [RCV005178425]	uncertain significance	10	69401116	69401116	Human		name
597963016	CV3841306	single nucleotide variant	NM_000188.3(HK1):c.1652G>A (p.Arg551Lys)	not provided [RCV005193409]	uncertain significance	10	69384414	69384414	Human		name
598127669	CV3882810	single nucleotide variant	NM_000188.3(HK1):c.1449G>A (p.Met483Ile)	not provided [RCV005234341]	uncertain significance	10	69382670	69382670	Human		name
598232851	CV3886484	single nucleotide variant	NM_000188.3(HK1):c.2419C>A (p.Leu807Ile)	Neurodevelopmental disorder with visual defects and brain anomalies [RCV005255928]	uncertain significance	10	69398638	69398638	Human	1	name
598241848	CV3890923	single nucleotide variant	NM_001358263.1(HK1):c.29C>G (p.Ala10Gly)	not provided [RCV005251776]	uncertain significance	10	69295634	69295634	Human		name
598248393	CV3975234	single nucleotide variant	NM_000188.3(HK1):c.1843A>G (p.Ile615Val)	Inborn genetic diseases [RCV005345438]	uncertain significance	10	69386326	69386326	Human	1	name
598178767	CV3975238	single nucleotide variant	NM_000188.3(HK1):c.1385G>A (p.Arg462His)	Inborn genetic diseases [RCV005352040]	uncertain significance	10	69382606	69382606	Human	1	name
616935830	CV4015963	single nucleotide variant	NM_000188.3(HK1):c.2137G>A (p.Gly713Arg)	not provided [RCV005414827]	uncertain significance	10	69392226	69392226	Human		name
617150693	CV4018838	single nucleotide variant	NM_000188.3(HK1):c.2031T>G (p.Ile677Met)	not provided [RCV005423246]	uncertain significance	10	69389292	69389292	Human		name
617150931	CV4021974	single nucleotide variant	NM_000188.3(HK1):c.1246C>T (p.Leu416Phe)	not provided [RCV005426935]	uncertain significance	10	69380076	69380076	Human		name
12895582	CV407887	single nucleotide variant	NM_000188.3(HK1):c.1241G>A (p.Gly414Glu)	Neurodevelopmental disorder with visual defects and brain anomalies [RCV000850126]\|not provided [RCV000487002]	pathogenic\|likely pathogenic	10	69380071	69380071	Human	1	name
12894678	CV407888	single nucleotide variant	NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)	Autism spectrum disorder [RCV003126749]\|Hemolytic anemia due to hexokinase deficiency [RCV001770372]\|Inborn genetic diseases [RCV001266687]\|Neurodevelopmental disorder with visual defects and brain anomalies [RCV000850128]\|Retinal dystrophy [RCV004816693]\|Retinitis pigmentosa 79 [RCV001254702]\|Retin ... (more) itis pigmentosa [RCV001270352]\|not provided [RCV000483739]	pathogenic\|likely pathogenic	10	69382555	69382555	Human	11	name
12899106	CV407889	single nucleotide variant	NM_000188.3(HK1):c.1616G>A (p.Arg539His)	HK1-related disorder [RCV004551594]\|not provided [RCV000479441]	uncertain significance	10	69384378	69384378	Human		name , trait , alternate_id
12902611	CV411619	single nucleotide variant	NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)	HK1-related disorder [RCV004740261]\|Retinal dystrophy [RCV001075827]\|Retinitis pigmentosa 79 [RCV000487470]\|See cases [RCV004584389]\|not provided [RCV001064496]	pathogenic\|likely pathogenic	10	69398758	69398758	Human	3	name , trait , alternate_id
13437045	CV433603	single nucleotide variant	NM_000188.3(HK1):c.1220G>A (p.Arg407Gln)	not provided [RCV001857270]\|not specified [RCV000508194]	uncertain significance	10	69380050	69380050	Human		name
14696492	CV590982	single nucleotide variant	NM_000188.3(HK1):c.1252A>G (p.Lys418Glu)	Charcot-Marie-Tooth disease type 4G [RCV001805835]\|Neurodevelopmental abnormality [RCV000782118]\|Neurodevelopmental disorder with visual defects and brain anomalies [RCV000850127]	pathogenic\|likely pathogenic	10	69380082	69380082	Human	4	name
14393677	CV609759	single nucleotide variant	NM_000188.3(HK1):c.2662G>A (p.Val888Met)	not provided [RCV000756245]\|not specified [RCV003117539]	uncertain significance	10	69401043	69401043	Human		name
8616654	CV70505	single nucleotide variant	NM_000188.3(HK1):c.2039C>G (p.Thr680Ser)	Hemolytic anemia due to hexokinase deficiency [RCV000049268]	pathogenic	10	69392128	69392128	Human	2	name
26903952	CV837156	single nucleotide variant	NM_000188.3(HK1):c.1193G>A (p.Arg398His)	not provided [RCV001070110]	uncertain significance	10	69380023	69380023	Human		name
26885034	CV837158	single nucleotide variant	NM_000188.3(HK1):c.1786A>T (p.Met596Leu)	not provided [RCV001052953]	uncertain significance	10	69384862	69384862	Human		name
26902831	CV837159	single nucleotide variant	NM_000188.3(HK1):c.2159A>G (p.Asp720Gly)	Inborn genetic diseases [RCV005348304]\|not provided [RCV001069515]	uncertain significance	10	69392248	69392248	Human	1	name
26893495	CV837160	single nucleotide variant	NM_000188.3(HK1):c.2506G>T (p.Ala836Ser)	not provided [RCV001062739]	uncertain significance	10	69398725	69398725	Human		name
26910865	CV856669	single nucleotide variant	NM_000188.3(HK1):c.1082T>C (p.Val361Ala)	Retinal dystrophy [RCV001075579]\|not provided [RCV003669182]	uncertain significance	10	69379912	69379912	Human	2	name
26909296	CV856670	single nucleotide variant	NM_000188.3(HK1):c.2704G>A (p.Ala902Thr)	Inborn genetic diseases [RCV002554651]\|Retinal dystrophy [RCV001073244]	uncertain significance	10	69401085	69401085	Human	3	name
28906651	CV859805	single nucleotide variant	NM_000188.3(HK1):c.1766T>C (p.Met589Thr)	Inborn genetic diseases [RCV003160613]\|not provided [RCV001093312]	uncertain significance	10	69384842	69384842	Human	1	name
28890123	CV903568	single nucleotide variant	NM_000188.3(HK1):c.1393G>A (p.Glu465Lys)	Neurodevelopmental disorder with visual defects and brain anomalies [RCV001169973]\|Retinal dystrophy [RCV004813825]\|not provided [RCV002558697]	likely pathogenic\|uncertain significance	10	69382614	69382614	Human	3	name
38464957	CV935139	single nucleotide variant	NM_000188.3(HK1):c.1105G>A (p.Val369Ile)	not provided [RCV001212568]	likely benign\|uncertain significance	10	69379935	69379935	Human		name
38476442	CV935140	single nucleotide variant	NM_000188.3(HK1):c.1433A>G (p.His478Arg)	not provided [RCV001204657]	uncertain significance	10	69382654	69382654	Human		name
38482396	CV935141	single nucleotide variant	NM_000188.3(HK1):c.1733T>C (p.Ile578Thr)	not provided [RCV001207244]	uncertain significance	10	69384809	69384809	Human		name
38458040	CV947014	single nucleotide variant	NM_000188.3(HK1):c.1499G>C (p.Arg500Thr)	not provided [RCV001228795]	uncertain significance	10	69382720	69382720	Human		name
38484115	CV947015	single nucleotide variant	NM_000188.3(HK1):c.2537G>A (p.Arg846His)	Inborn genetic diseases [RCV002563851]\|not provided [RCV001236205]	uncertain significance	10	69398756	69398756	Human	1	name
38485442	CV947016	single nucleotide variant	NM_000188.3(HK1):c.2633C>T (p.Thr878Met)	Retinal dystrophy [RCV004813958]\|not provided [RCV001236758]	uncertain significance	10	69401014	69401014	Human	2	name
38496026	CV956143	single nucleotide variant	NM_000188.3(HK1):c.1522G>A (p.Val508Met)	not provided [RCV001242317]	uncertain significance	10	69382743	69382743	Human		name
38499762	CV956144	single nucleotide variant	NM_000188.3(HK1):c.1549C>T (p.Arg517Trp)	Inborn genetic diseases [RCV003166539]\|not provided [RCV001245049]	uncertain significance	10	69382770	69382770	Human	1	name
38465777	CV956145	single nucleotide variant	NM_000188.3(HK1):c.1550G>A (p.Arg517Gln)	Charcot-Marie-Tooth disease type 4G [RCV005394882]\|not provided [RCV001247605]	uncertain significance	10	69382771	69382771	Human	1	name
39456429	CV965521	single nucleotide variant	NM_000188.3(HK1):c.1010G>A (p.Ser337Asn)	Inborn genetic diseases [RCV002570576]\|Neurodevelopmental disorder with visual defects and brain anomalies [RCV004799304]\|not provided [RCV001343303]\|not specified [RCV004800760]	uncertain significance	10	69377068	69377068	Human	2	name
40887712	CV973751	single nucleotide variant	NM_000188.3(HK1):c.1348G>C (p.Gly450Arg)	Inborn genetic diseases [RCV001267311]\|not provided [RCV001880139]	uncertain significance	10	69382569	69382569	Human	1	name
150339803	CV980866	single nucleotide variant	NM_000188.3(HK1):c.1354G>C (p.Gly452Arg)	Hemolytic anemia due to hexokinase deficiency [RCV001534611]	likely pathogenic	10	69382575	69382575	Human	2	name
41405668	CV981703	single nucleotide variant	NM_001358263.1(HK1):c.53T>C (p.Leu18Pro)	Charcot-Marie-Tooth disease type 4G [RCV002499499]\|HK1-related disorder [RCV004548125]\|not provided [RCV001813126]	benign\|likely benign\|uncertain significance	10	69295658	69295658	Human	5	name , trait , alternate_id
41405466	CV981704	inversion	NM_001358263.1(HK1):c.75+5173_75+5174inv	HK1-related disorder [RCV004723461]\|not provided [RCV003736377]	likely benign\|uncertain significance	10	69300853	69300854	Human		name , trait , alternate_id
41405180	CV981711	single nucleotide variant	NM_000188.3(HK1):c.2314A>T (p.Ile772Phe)	not provided [RCV001812442]	uncertain significance	10	69395044	69395044	Human		name
126745035	CV993958	single nucleotide variant	NM_000188.3(HK1):c.1186C>T (p.Arg396Cys)	HK1-related disorder [RCV004548149]\|not provided [RCV001305925]	uncertain significance	10	69380016	69380016	Human		name , trait , alternate_id
126760401	CV993959	single nucleotide variant	NM_000188.3(HK1):c.1508C>T (p.Thr503Met)	HK1-related disorder [RCV004740659]\|Inborn genetic diseases [RCV004987042]\|not provided [RCV001299783]	uncertain significance	10	69382729	69382729	Human	1	name , trait , alternate_id
126750155	CV993960	single nucleotide variant	NM_000188.3(HK1):c.1735G>A (p.Val579Ile)	not provided [RCV001306784]	uncertain significance	10	69384811	69384811	Human		name
126731185	CV993961	single nucleotide variant	NM_000188.3(HK1):c.1826C>T (p.Thr609Met)	not provided [RCV001303858]	uncertain significance	10	69384902	69384902	Human		name
126730963	CV993962	single nucleotide variant	NM_000188.3(HK1):c.1885G>A (p.Val629Met)	not provided [RCV001303823]	uncertain significance	10	69386368	69386368	Human		name
156201195	CV2182852	duplication	NM_000188.3(HK1):c.442_473dup (p.Gln159fs)	not provided [RCV003024457]	pathogenic	10	69364847	69364848	Human		name
404979748	CV2850250	deletion	NM_000188.3(HK1):c.117_119del (p.Ile39del)	not provided [RCV003487903]	uncertain significance	10	69343878	69343880	Human		name
401938368	CV2813241	microsatellite	NM_000188.3(HK1):c.1327CTC[1] (p.Leu444del)	not provided [RCV003417464]	uncertain significance	10	69382546	69382548	Human		name
153302223	CV1688121	deletion	NM_000188.3(HK1):c.2551_2563del (p.Leu851fs)	not provided [RCV002265347]	uncertain significance	10	69398768	69398780	Human		name
156022505	CV2079089	deletion	NM_000188.3(HK1):c.1200_1202del (p.Asn400del)	not provided [RCV002885023]	uncertain significance	10	69380028	69380030	Human		name
408370418	CV3510140	deletion	NM_000188.3(HK1):c.2029_2031del (p.Ile677del)	HK1-related disorder [RCV004739767]	uncertain significance	10	69389290	69389292	Human		name , trait , alternate_id
151750531	CV1377620	deletion	NM_000188.3(HK1):c.1907_1910del (p.Thr635_Leu636insTer)	not provided [RCV001948096]	pathogenic\|uncertain significance	10	69386388	69386391	Human		name

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