Guf1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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427 records found for search term Guf1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
155959148	CV1936433	single nucleotide variant	NM_021927.3(GUF1):c.-41G>C	not provided [RCV002512249]	likely benign	4	44678582	44678582	Human		name
151712062	CV1374370	duplication	NM_021927.3(GUF1):c.669+1dup	not provided [RCV001908215]	uncertain significance	4	44683317	44683318	Human		name
151725634	CV1455724	single nucleotide variant	NM_021927.3(GUF1):c.735-2A>C	not provided [RCV002020742]	uncertain significance	4	44686508	44686508	Human		name
151846803	CV1483859	single nucleotide variant	NM_021927.3(GUF1):c.277+1G>A	not provided [RCV001903542]	uncertain significance	4	44680553	44680553	Human		name
151875147	CV1486759	single nucleotide variant	NM_021927.3(GUF1):c.669+4A>G	not provided [RCV001906973]	uncertain significance	4	44683322	44683322	Human		name
151753093	CV1508913	single nucleotide variant	NM_021927.3(GUF1):c.938+1G>T	not provided [RCV002043492]	uncertain significance	4	44686714	44686714	Human		name
151817293	CV1511431	single nucleotide variant	NM_021927.3(GUF1):c.585+3A>G	not provided [RCV001954405]	uncertain significance	4	44682414	44682414	Human		name
152159989	CV1522753	duplication	NM_021927.3(GUF1):c.586-5dup	not provided [RCV002140751]	benign	4	44683219	44683220	Human		name
152098570	CV1530835	single nucleotide variant	NM_021927.3(GUF1):c.734+1G>A	GUF1-related disorder [RCV003978809]\|not provided [RCV002132959]	benign	4	44686024	44686024	Human	1	name , trait , alternate_id
152077285	CV1560724	single nucleotide variant	NM_021927.3(GUF1):c.938+8A>G	not provided [RCV002112276]	likely benign	4	44686721	44686721	Human		name
152088400	CV1562923	single nucleotide variant	NM_021927.3(GUF1):c.669+9C>T	not provided [RCV002113735]	likely benign	4	44683327	44683327	Human		name
152033726	CV1610435	deletion	NM_021927.3(GUF1):c.586-5del	not provided [RCV002124983]	benign	4	44683220	44683220	Human		name
152119738	CV1664840	single nucleotide variant	NM_021927.3(GUF1):c.165+9C>T	not provided [RCV002117692]	likely benign	4	44678796	44678796	Human		name
156328863	CV1969799	single nucleotide variant	NM_021927.3(GUF1):c.586-9T>C	not provided [RCV002600680]	likely benign	4	44683226	44683226	Human		name
156322431	CV1976236	single nucleotide variant	NM_021927.3(GUF1):c.166-2A>C	not provided [RCV002600321]	uncertain significance	4	44680439	44680439	Human		name
156248759	CV1989010	single nucleotide variant	NM_021927.3(GUF1):c.508-6T>C	not provided [RCV002627380]	likely benign	4	44682328	44682328	Human		name
405113590	CV2948702	single nucleotide variant	NM_021927.3(GUF1):c.938+9T>C	not provided [RCV003666635]	likely benign	4	44686722	44686722	Human		name
405157093	CV3028141	single nucleotide variant	NM_021927.3(GUF1):c.166-7T>C	not provided [RCV003703616]	likely benign	4	44680434	44680434	Human		name
405285786	CV3221608	single nucleotide variant	NM_021927.3(GUF1):c.586-4A>T	GUF1-related disorder [RCV003981325]	likely benign	4	44683231	44683231	Human		name , trait , alternate_id
597957840	CV3755180	single nucleotide variant	NM_021927.3(GUF1):c.165+5C>T	not provided [RCV005080850]	uncertain significance	4	44678792	44678792	Human		name
597868146	CV3858251	single nucleotide variant	NM_021927.3(GUF1):c.427-8T>G	not provided [RCV005196994]	uncertain significance	4	44681115	44681115	Human		name
126740568	CV1019980	single nucleotide variant	NM_021927.3(GUF1):c.1873-1G>A	not provided [RCV002962005]	pathogenic\|uncertain significance	4	44698543	44698543	Human		name
127264570	CV1071673	single nucleotide variant	NM_021927.3(GUF1):c.669+10G>A	not provided [RCV001403332]	likely benign	4	44683328	44683328	Human		name
150435915	CV1275157	single nucleotide variant	NM_021927.3(GUF1):c.585+27C>T	Developmental and epileptic encephalopathy, 40 [RCV001702205]\|not provided [RCV004716791]	benign	4	44682438	44682438	Human	1	name
150435919	CV1275159	single nucleotide variant	NM_021927.3(GUF1):c.586-27T>A	Developmental and epileptic encephalopathy, 40 [RCV001702206]\|not provided [RCV004716792]	benign	4	44683208	44683208	Human	1	name
150492761	CV1275160	single nucleotide variant	NM_021927.3(GUF1):c.1715+8C>G	Developmental and epileptic encephalopathy, 40 [RCV001702048]\|not provided [RCV002077172]	benign	4	44694521	44694521	Human	1	name
151784920	CV1369181	single nucleotide variant	NM_021927.3(GUF1):c.1203-3C>A	not provided [RCV002046507]	uncertain significance	4	44689840	44689840	Human		name
151785691	CV1369456	single nucleotide variant	NM_021927.3(GUF1):c.1335+6T>C	not provided [RCV002046581]	uncertain significance	4	44689981	44689981	Human		name
151806083	CV1403743	single nucleotide variant	NM_021927.3(GUF1):c.1835+1G>T	not provided [RCV002012003]	uncertain significance	4	44695735	44695735	Human		name
151724843	CV1437157	single nucleotide variant	NM_021927.3(GUF1):c.1836-2A>G	not provided [RCV002004136]	uncertain significance	4	44697406	44697406	Human		name
151770452	CV1477259	single nucleotide variant	NM_021927.3(GUF1):c.1336-2A>G	not provided [RCV001950105]	uncertain significance	4	44690715	44690715	Human		name
151888358	CV1481291	single nucleotide variant	NM_021927.3(GUF1):c.1203-8T>C	GUF1-related disorder [RCV003911132]\|not provided [RCV001963195]	likely benign	4	44689835	44689835	Human	1	name , trait , alternate_id
152035990	CV1545886	single nucleotide variant	NM_021927.3(GUF1):c.165+13T>C	not provided [RCV002164947]	likely benign	4	44678800	44678800	Human		name
152138482	CV1562651	single nucleotide variant	NM_021927.3(GUF1):c.670-10A>G	not provided [RCV002100439]	likely benign	4	44685949	44685949	Human		name
152110041	CV1586014	single nucleotide variant	NM_021927.3(GUF1):c.427-16T>C	not provided [RCV002134363]	likely benign	4	44681107	44681107	Human		name
152081592	CV1589436	single nucleotide variant	NM_021927.3(GUF1):c.426+10A>G	not provided [RCV002112825]	likely benign	4	44680852	44680852	Human		name
152026877	CV1593567	single nucleotide variant	NM_021927.3(GUF1):c.1078+7A>G	not provided [RCV002104705]	likely benign	4	44688153	44688153	Human		name
152150768	CV1598162	single nucleotide variant	NM_021927.3(GUF1):c.585+10A>G	not provided [RCV002121706]	benign	4	44682421	44682421	Human		name
152174581	CV1602111	single nucleotide variant	NM_021927.3(GUF1):c.669+15T>C	not provided [RCV002144486]	likely benign	4	44683333	44683333	Human		name
152110782	CV1617753	single nucleotide variant	NM_021927.3(GUF1):c.670-14A>G	not provided [RCV002116516]	likely benign	4	44685945	44685945	Human		name
152099063	CV1627187	single nucleotide variant	NM_021927.3(GUF1):c.1613+7A>G	not provided [RCV002095268]	likely benign	4	44691806	44691806	Human		name
152125018	CV1630085	single nucleotide variant	NM_021927.3(GUF1):c.1716-5C>T	not provided [RCV002154752]	likely benign	4	44695610	44695610	Human		name
152176556	CV1631541	single nucleotide variant	NM_021927.3(GUF1):c.507+19G>A	not provided [RCV002164702]	likely benign	4	44681222	44681222	Human		name
152157931	CV1639468	single nucleotide variant	NM_021927.3(GUF1):c.1335+8G>T	not provided [RCV002180405]	likely benign	4	44689983	44689983	Human		name
152039899	CV1644025	single nucleotide variant	NM_021927.3(GUF1):c.278-20A>G	not provided [RCV002125932]	likely benign	4	44680674	44680674	Human		name
152049940	CV1657115	single nucleotide variant	NM_021927.3(GUF1):c.1479+9A>G	not provided [RCV002189283]	likely benign	4	44690869	44690869	Human		name
156325410	CV1972664	single nucleotide variant	NM_021927.3(GUF1):c.277+13T>C	not provided [RCV002600497]	likely benign	4	44680565	44680565	Human		name
156127074	CV2012481	single nucleotide variant	NM_021927.3(GUF1):c.1836-9C>G	not provided [RCV002696261]	likely benign	4	44697399	44697399	Human		name
155951281	CV2014007	single nucleotide variant	NM_021927.3(GUF1):c.1872+3A>G	not provided [RCV002686037]	uncertain significance	4	44697447	44697447	Human		name
156011052	CV2016594	single nucleotide variant	NM_021927.3(GUF1):c.1203-3C>T	not provided [RCV002734897]	uncertain significance	4	44689840	44689840	Human		name
156367249	CV2021006	single nucleotide variant	NM_021927.3(GUF1):c.1202+3A>G	not provided [RCV002721264]	uncertain significance	4	44689412	44689412	Human		name
156032425	CV2078945	duplication	NM_021927.3(GUF1):c.165+12dup	not provided [RCV002867108]	benign	4	44678794	44678795	Human		name
155987419	CV2091346	single nucleotide variant	NM_021927.3(GUF1):c.669+20A>G	not provided [RCV002907992]	likely benign	4	44683338	44683338	Human		name
156261531	CV2159558	single nucleotide variant	NM_021927.3(GUF1):c.734+17T>G	not provided [RCV003026675]	likely benign	4	44686040	44686040	Human		name
402473638	CV2857870	single nucleotide variant	NM_021927.3(GUF1):c.165+10C>G	not provided [RCV003542993]	likely benign	4	44678797	44678797	Human		name
405085820	CV2943167	single nucleotide variant	NM_021927.3(GUF1):c.1873-6T>C	not provided [RCV003664942]	uncertain significance	4	44698538	44698538	Human		name
405140220	CV2961927	single nucleotide variant	NM_021927.3(GUF1):c.939-15A>G	not provided [RCV003673160]	likely benign	4	44687992	44687992	Human		name
405189683	CV2987898	single nucleotide variant	NM_021927.3(GUF1):c.586-17G>A	not provided [RCV003706352]	likely benign	4	44683218	44683218	Human		name
405216170	CV3160802	single nucleotide variant	NM_021927.3(GUF1):c.669+14C>A	not provided [RCV003862864]	likely benign	4	44683332	44683332	Human		name
405208677	CV3162407	single nucleotide variant	NM_021927.3(GUF1):c.1716-8T>C	not provided [RCV003861706]	likely benign	4	44695607	44695607	Human		name
404991726	CV3176277	single nucleotide variant	NM_021927.3(GUF1):c.1873-9A>G	not provided [RCV003881602]	likely benign	4	44698535	44698535	Human		name
405286128	CV3218719	single nucleotide variant	NM_021927.3(GUF1):c.735-10T>C	GUF1-related disorder [RCV003959439]\|not provided [RCV005064883]	likely benign	4	44686500	44686500	Human	1	name , trait , alternate_id
597894975	CV3744052	single nucleotide variant	NM_021927.3(GUF1):c.1835+1G>A	not provided [RCV005071522]	uncertain significance	4	44695735	44695735	Human		name
597852071	CV3747056	single nucleotide variant	NM_021927.3(GUF1):c.426+15A>C	not provided [RCV005060685]	likely benign	4	44680857	44680857	Human		name
597906736	CV3773089	duplication	NM_021927.3(GUF1):c.669+20dup	not provided [RCV005113153]	benign	4	44683333	44683334	Human		name
597896295	CV3810518	duplication	NM_021927.3(GUF1):c.1613+9dup	not provided [RCV005152043]	benign	4	44691801	44691802	Human		name
597959494	CV3848696	single nucleotide variant	NM_021927.3(GUF1):c.938+13C>T	not provided [RCV005192397]	likely benign	4	44686726	44686726	Human		name
598225839	CV3895690	single nucleotide variant	NM_021927.3(GUF1):c.1203-1G>A	Developmental and epileptic encephalopathy, 40 [RCV005362004]	uncertain significance	4	44689842	44689842	Human	1	name
150435921	CV1275161	single nucleotide variant	NM_021927.3(GUF1):c.1872+23T>G	Developmental and epileptic encephalopathy, 40 [RCV001702207]\|not provided [RCV004716793]	benign	4	44697467	44697467	Human	1	name
152046397	CV1519612	single nucleotide variant	NM_021927.3(GUF1):c.1836-20C>T	not provided [RCV002145130]	likely benign	4	44697388	44697388	Human		name
152037214	CV1521901	single nucleotide variant	NM_021927.3(GUF1):c.1613+15A>G	not provided [RCV002187709]	likely benign	4	44691814	44691814	Human		name
152027777	CV1529575	single nucleotide variant	NM_021927.3(GUF1):c.1078+13C>G	not provided [RCV002185616]	likely benign	4	44688159	44688159	Human		name
152162023	CV1606253	single nucleotide variant	NM_021927.3(GUF1):c.1079-13A>C	not provided [RCV002181097]	likely benign	4	44689273	44689273	Human		name
152091886	CV1631699	deletion	NM_021927.3(GUF1):c.1836-12del	not provided [RCV002132146]	benign	4	44697392	44697392	Human		name
152034007	CV1634702	single nucleotide variant	NM_021927.3(GUF1):c.1872+20T>G	not provided [RCV002086899]	likely benign	4	44697464	44697464	Human		name
152143497	CV1636683	single nucleotide variant	NM_021927.3(GUF1):c.1715+19A>C	not provided [RCV002120695]	likely benign	4	44694532	44694532	Human		name
152129343	CV1637455	single nucleotide variant	NM_021927.3(GUF1):c.1873-11A>T	not provided [RCV002217849]	likely benign	4	44698533	44698533	Human		name
152111427	CV1640392	single nucleotide variant	NM_021927.3(GUF1):c.1079-12T>C	not provided [RCV002174384]	likely benign	4	44689274	44689274	Human		name
152151828	CV1658919	single nucleotide variant	NM_021927.3(GUF1):c.1716-14T>G	not provided [RCV002139632]	likely benign	4	44695601	44695601	Human		name
152151000	CV1661789	single nucleotide variant	NM_021927.3(GUF1):c.1613+11A>G	not provided [RCV002179446]	likely benign	4	44691810	44691810	Human		name
156068886	CV1971687	single nucleotide variant	NM_021927.3(GUF1):c.1078+15A>G	not provided [RCV002591212]	likely benign	4	44688161	44688161	Human		name
156157009	CV1987875	single nucleotide variant	NM_021927.3(GUF1):c.1614-18G>C	not provided [RCV002642267]	likely benign	4	44694394	44694394	Human		name
156330111	CV1990945	single nucleotide variant	NM_021927.3(GUF1):c.1613+13T>A	not provided [RCV002630881]	likely benign	4	44691812	44691812	Human		name
155946120	CV1999537	single nucleotide variant	NM_021927.3(GUF1):c.1715+19A>G	not provided [RCV002685751]	likely benign	4	44694532	44694532	Human		name
156041751	CV2044104	single nucleotide variant	NM_021927.3(GUF1):c.1872+13T>C	not provided [RCV002781518]	likely benign	4	44697457	44697457	Human		name
405201416	CV2918646	single nucleotide variant	NM_021927.3(GUF1):c.1480-13C>T	not provided [RCV003565981]	uncertain significance	4	44691653	44691653	Human		name
405033041	CV2922694	single nucleotide variant	NM_021927.3(GUF1):c.1202+11T>C	not provided [RCV003578502]	likely benign	4	44689420	44689420	Human		name
405124927	CV2958267	single nucleotide variant	NM_021927.3(GUF1):c.1079-14C>T	not provided [RCV003667829]	likely benign	4	44689272	44689272	Human		name
405038899	CV3013534	deletion	NM_021927.3(GUF1):c.1873-15del	not provided [RCV003696168]	benign	4	44698526	44698526	Human		name
405038941	CV3013537	single nucleotide variant	NM_021927.3(GUF1):c.1873-13A>T	not provided [RCV003696171]	likely benign	4	44698531	44698531	Human		name
405214980	CV3124517	single nucleotide variant	NM_021927.3(GUF1):c.1873-12A>G	not provided [RCV003823879]	uncertain significance	4	44698532	44698532	Human		name
405105339	CV3139823	single nucleotide variant	NM_021927.3(GUF1):c.1203-10C>A	not provided [RCV003835234]	likely benign	4	44689833	44689833	Human		name
405244111	CV3161194	single nucleotide variant	NM_021927.3(GUF1):c.1479+18T>C	not provided [RCV003868103]	likely benign	4	44690878	44690878	Human		name
597898205	CV3854528	single nucleotide variant	NM_021927.3(GUF1):c.1202+14A>G	not provided [RCV005201635]	likely benign	4	44689423	44689423	Human		name
597932618	CV3862079	single nucleotide variant	NM_021927.3(GUF1):c.1079-11T>C	not provided [RCV005206943]	likely benign	4	44689275	44689275	Human		name
405076979	CV3156230	deletion	NM_021927.3(GUF1):c.735-19_738del	not provided [RCV003851288]	uncertain significance	4	44686489	44686511	Human		name
151730828	CV1489593	single nucleotide variant	NM_021927.3(GUF1):c.78G>A (p.Val26=)	not provided [RCV001910853]	likely benign\|uncertain significance	4	44678700	44678700	Human		name
152107929	CV1550653	microsatellite	NM_021927.3(GUF1):c.1836-9_1836-8del	not provided [RCV002134104]	likely benign	4	44697396	44697397	Human		name
152110821	CV1551158	single nucleotide variant	NM_021927.3(GUF1):c.93G>C (p.Arg31=)	not provided [RCV002196749]	likely benign	4	44678715	44678715	Human		name
152171681	CV1575577	single nucleotide variant	NM_021927.3(GUF1):c.99G>T (p.Ala33=)	not provided [RCV002183581]	likely benign	4	44678721	44678721	Human		name
152154468	CV1579488	single nucleotide variant	NM_021927.3(GUF1):c.60T>C (p.Thr20=)	not provided [RCV002158667]	likely benign	4	44678682	44678682	Human		name
152170119	CV1610796	single nucleotide variant	NM_021927.3(GUF1):c.78G>C (p.Val26=)	not provided [RCV002143016]	likely benign	4	44678700	44678700	Human		name
156207474	CV2076787	single nucleotide variant	NM_021927.3(GUF1):c.51A>T (p.Pro17=)	not provided [RCV002852698]	likely benign	4	44678673	44678673	Human		name
405095334	CV2874881	single nucleotide variant	NM_021927.3(GUF1):c.81C>T (p.Ala27=)	not provided [RCV003550216]	likely benign	4	44678703	44678703	Human		name
405214660	CV2967685	single nucleotide variant	NM_021927.3(GUF1):c.30G>T (p.Gly10=)	not provided [RCV003679861]	likely benign	4	44678652	44678652	Human		name
405219232	CV3135811	single nucleotide variant	NM_021927.3(GUF1):c.66C>G (p.Ala22=)	not provided [RCV003824437]	likely benign	4	44678688	44678688	Human		name
597952890	CV3843856	single nucleotide variant	NM_021927.3(GUF1):c.1A>C (p.Met1Leu)	not provided [RCV005190718]	uncertain significance	4	44678623	44678623	Human		name
15138264	CV748948	single nucleotide variant	NM_021927.3(GUF1):c.57C>T (p.Ala19=)	not provided [RCV000921303]	likely benign	4	44678679	44678679	Human		name
150436492	CV1275158	insertion	NM_021927.3(GUF1):c.586-28_586-27insA	Developmental and epileptic encephalopathy, 40 [RCV001702338]	benign	4	44683207	44683208	Human	1	name
151747752	CV1362386	single nucleotide variant	NM_021927.3(GUF1):c.20G>T (p.Arg7Leu)	not provided [RCV001968839]	uncertain significance	4	44678642	44678642	Human		name
151763513	CV1407541	single nucleotide variant	NM_021927.3(GUF1):c.19C>T (p.Arg7Trp)	not provided [RCV002044545]	uncertain significance	4	44678641	44678641	Human		name
152157850	CV1564277	single nucleotide variant	NM_021927.3(GUF1):c.237T>C (p.His79=)	not provided [RCV002140410]	likely benign	4	44680512	44680512	Human		name
152164577	CV1588542	single nucleotide variant	NM_021927.3(GUF1):c.228C>T (p.His76=)	not provided [RCV002181565]	likely benign	4	44680503	44680503	Human		name
152091830	CV1647034	single nucleotide variant	NM_021927.3(GUF1):c.177C>T (p.Asp59=)	not provided [RCV002150691]	likely benign	4	44680452	44680452	Human		name
405188617	CV2917873	single nucleotide variant	NM_021927.3(GUF1):c.184A>C (p.Arg62=)	not provided [RCV003564672]	likely benign	4	44680459	44680459	Human		name
405217344	CV2972304	deletion	NM_021927.3(GUF1):c.66del (p.Ala23fs)	not provided [RCV003680198]	uncertain significance	4	44678687	44678687	Human		name
405233675	CV2975491	single nucleotide variant	NM_021927.3(GUF1):c.294A>G (p.Thr98=)	not provided [RCV003682677]	likely benign	4	44680710	44680710	Human		name
402492395	CV3008306	single nucleotide variant	NM_021927.3(GUF1):c.114T>G (p.Ala38=)	not provided [RCV003687661]	likely benign	4	44678736	44678736	Human		name
405184023	CV3057885	single nucleotide variant	NM_021927.3(GUF1):c.10C>G (p.Leu4Val)	not provided [RCV003729083]	uncertain significance	4	44678632	44678632	Human		name
405243665	CV3161067	single nucleotide variant	NM_021927.3(GUF1):c.264C>T (p.Leu88=)	not provided [RCV003867976]	likely benign	4	44680539	44680539	Human		name
151817758	CV1337490	single nucleotide variant	NM_021927.3(GUF1):c.55G>A (p.Ala19Thr)	not provided [RCV001919258]	uncertain significance	4	44678677	44678677	Human		name
151736060	CV1354800	single nucleotide variant	NM_021927.3(GUF1):c.41C>G (p.Ala14Gly)	not provided [RCV001892769]	uncertain significance	4	44678663	44678663	Human		name
151812266	CV1376837	single nucleotide variant	NM_021927.3(GUF1):c.40G>C (p.Ala14Pro)	not provided [RCV001900070]	uncertain significance	4	44678662	44678662	Human		name
151717784	CV1380603	duplication	NM_021927.3(GUF1):c.130dup (p.Ala44fs)	not provided [RCV002003179]	uncertain significance	4	44678749	44678750	Human		name
151787515	CV1390510	single nucleotide variant	NM_021927.3(GUF1):c.681A>G (p.Lys227=)	not provided [RCV001931069]	likely benign\|uncertain significance	4	44685970	44685970	Human		name
151748775	CV1431021	deletion	NM_021927.3(GUF1):c.9_12del (p.Leu4fs)	not provided [RCV001912754]	uncertain significance	4	44678630	44678633	Human		name
151780311	CV1446238	single nucleotide variant	NM_021927.3(GUF1):c.669G>A (p.Lys223=)	not provided [RCV001989070]	uncertain significance	4	44683318	44683318	Human		name
151814700	CV1459775	single nucleotide variant	NM_021927.3(GUF1):c.46G>A (p.Ala16Thr)	not provided [RCV002012787]	uncertain significance	4	44678668	44678668	Human		name
151781478	CV1468895	single nucleotide variant	NM_021927.3(GUF1):c.55G>T (p.Ala19Ser)	not provided [RCV002026304]	uncertain significance	4	44678677	44678677	Human		name
151717971	CV1469228	single nucleotide variant	NM_021927.3(GUF1):c.58A>G (p.Thr20Ala)	GUF1-related disorder [RCV004757481]\|not provided [RCV002039624]	likely benign\|uncertain significance	4	44678680	44678680	Human	1	name , trait , alternate_id
151872241	CV1470707	single nucleotide variant	NM_021927.3(GUF1):c.82C>A (p.Pro28Thr)	not provided [RCV001925373]\|not specified [RCV004042584]	uncertain significance	4	44678704	44678704	Human		name
151803948	CV1503210	single nucleotide variant	NM_021927.3(GUF1):c.97G>A (p.Ala33Thr)	not provided [RCV002011818]	uncertain significance	4	44678719	44678719	Human		name
152104863	CV1574868	single nucleotide variant	NM_021927.3(GUF1):c.558G>A (p.Gln186=)	GUF1-related disorder [RCV003903340]\|not provided [RCV002096018]	likely benign	4	44682384	44682384	Human	1	name , trait , alternate_id
152129698	CV1584343	single nucleotide variant	NM_021927.3(GUF1):c.654T>C (p.Ser218=)	not provided [RCV002082692]	benign	4	44683303	44683303	Human		name
152144102	CV1596898	single nucleotide variant	NM_021927.3(GUF1):c.399G>A (p.Gln133=)	not provided [RCV002157164]	likely benign	4	44680815	44680815	Human		name
152080361	CV1620715	single nucleotide variant	NM_021927.3(GUF1):c.831C>T (p.Asp277=)	not provided [RCV002112665]	likely benign	4	44686606	44686606	Human		name
152174328	CV1622378	single nucleotide variant	NM_021927.3(GUF1):c.945A>T (p.Ala315=)	not provided [RCV002184473]	likely benign	4	44688013	44688013	Human		name
152088523	CV1626183	single nucleotide variant	NM_021927.3(GUF1):c.981T>C (p.Asp327=)	not provided [RCV002131752]	likely benign	4	44688049	44688049	Human		name
152134794	CV1638448	single nucleotide variant	NM_021927.3(GUF1):c.933T>C (p.His311=)	not provided [RCV002083357]	likely benign	4	44686708	44686708	Human		name
152133493	CV1646474	single nucleotide variant	NM_021927.3(GUF1):c.549C>T (p.Phe183=)	not provided [RCV002137239]	likely benign	4	44682375	44682375	Human		name
152089734	CV1654722	single nucleotide variant	NM_021927.3(GUF1):c.546C>T (p.Ala182=)	not provided [RCV002212559]	likely benign	4	44682372	44682372	Human		name
152053276	CV1659305	single nucleotide variant	NM_021927.3(GUF1):c.885C>T (p.Tyr295=)	not provided [RCV002189670]	likely benign	4	44686660	44686660	Human		name
152078561	CV1661405	microsatellite	NM_021927.3(GUF1):c.1335+21_1335+33del	not provided [RCV002130545]	likely benign	4	44689981	44689993	Human		name
156074946	CV1904143	single nucleotide variant	NM_021927.3(GUF1):c.993G>A (p.Ala331=)	GUF1-related disorder [RCV003963655]\|not provided [RCV002591387]	likely benign	4	44688061	44688061	Human	1	name , trait , alternate_id
156404341	CV1916524	single nucleotide variant	NM_021927.3(GUF1):c.70C>T (p.Leu24Phe)	not provided [RCV002606073]	uncertain significance	4	44678692	44678692	Human		name
156040912	CV1918514	microsatellite	NM_021927.3(GUF1):c.1613+11_1613+13del	not provided [RCV002620251]	likely benign	4	44691807	44691809	Human		name
156435679	CV1940868	single nucleotide variant	NM_021927.3(GUF1):c.67G>C (p.Ala23Pro)	not provided [RCV003104970]	uncertain significance	4	44678689	44678689	Human		name
156415644	CV1955475	single nucleotide variant	NM_021927.3(GUF1):c.91C>T (p.Arg31Trp)	not provided [RCV002589283]	uncertain significance	4	44678713	44678713	Human		name
156352177	CV1965536	single nucleotide variant	NM_021927.3(GUF1):c.564G>A (p.Ser188=)	not provided [RCV002581141]	uncertain significance	4	44682390	44682390	Human		name
156339014	CV1984688	single nucleotide variant	NM_021927.3(GUF1):c.67G>A (p.Ala23Thr)	not provided [RCV002631331]	uncertain significance	4	44678689	44678689	Human		name
156205124	CV2110234	single nucleotide variant	NM_021927.3(GUF1):c.744G>T (p.Val248=)	not provided [RCV002957524]	likely benign	4	44686519	44686519	Human		name
156105168	CV2180912	single nucleotide variant	NM_021927.3(GUF1):c.372T>C (p.Ser124=)	not provided [RCV003054871]	likely benign	4	44680788	44680788	Human		name
156350999	CV2189672	single nucleotide variant	NM_021927.3(GUF1):c.98C>A (p.Ala33Glu)	not provided [RCV003048334]	uncertain significance	4	44678720	44678720	Human		name
405068246	CV2875625	single nucleotide variant	NM_021927.3(GUF1):c.591T>C (p.Asp197=)	not provided [RCV003548372]	likely benign	4	44683240	44683240	Human		name
405240511	CV2892800	single nucleotide variant	NM_021927.3(GUF1):c.89C>T (p.Pro30Leu)	not provided [RCV003557243]	uncertain significance	4	44678711	44678711	Human		name
405027811	CV2928647	single nucleotide variant	NM_021927.3(GUF1):c.969T>G (p.Ala323=)	not provided [RCV003578091]	likely benign	4	44688037	44688037	Human		name
405127673	CV2958556	single nucleotide variant	NM_021927.3(GUF1):c.891T>A (p.Val297=)	not provided [RCV003668018]	likely benign	4	44686666	44686666	Human		name
597906777	CV3781384	single nucleotide variant	NM_021927.3(GUF1):c.603T>C (p.Ala201=)	not provided [RCV005128072]	likely benign	4	44683252	44683252	Human		name
597899012	CV3782849	single nucleotide variant	NM_021927.3(GUF1):c.750C>T (p.Arg250=)	not provided [RCV005126869]	likely benign	4	44686525	44686525	Human		name
597959545	CV3815123	single nucleotide variant	NM_021927.3(GUF1):c.732C>T (p.Pro244=)	not provided [RCV005163250]	likely benign	4	44686021	44686021	Human		name
597976402	CV3829650	single nucleotide variant	NM_021927.3(GUF1):c.375C>T (p.Leu125=)	not provided [RCV005169918]	likely benign	4	44680791	44680791	Human		name
597890048	CV3856063	single nucleotide variant	NM_021927.3(GUF1):c.38G>A (p.Arg13His)	not provided [RCV005200308]	uncertain significance	4	44678660	44678660	Human		name
15159816	CV709369	single nucleotide variant	NM_021927.3(GUF1):c.88C>T (p.Pro30Ser)	GUF1-related disorder [RCV003918417]\|not provided [RCV000969779]	likely benign	4	44678710	44678710	Human	1	name , trait , alternate_id
15123260	CV734646	single nucleotide variant	NM_021927.3(GUF1):c.594G>A (p.Leu198=)	not provided [RCV000896381]	likely benign	4	44683243	44683243	Human		name
15188673	CV764472	single nucleotide variant	NM_021927.3(GUF1):c.615G>A (p.Arg205=)	not provided [RCV000932016]	likely benign	4	44683264	44683264	Human		name
150492760	CV1275156	single nucleotide variant	NM_021927.3(GUF1):c.173T>C (p.Leu58Pro)	Developmental and epileptic encephalopathy, 40 [RCV001702047]\|not provided [RCV002077171]	benign	4	44680448	44680448	Human	1	name
151772706	CV1368547	single nucleotide variant	NM_021927.3(GUF1):c.229G>A (p.Val77Met)	not provided [RCV001950319]	uncertain significance	4	44680504	44680504	Human		name
151774889	CV1419925	single nucleotide variant	NM_021927.3(GUF1):c.1305A>G (p.Lys435=)	not provided [RCV001988593]	likely benign\|uncertain significance	4	44689945	44689945	Human		name
151772557	CV1444384	single nucleotide variant	NM_021927.3(GUF1):c.251T>C (p.Leu84Ser)	not provided [RCV001929668]	uncertain significance	4	44680526	44680526	Human		name
152091721	CV1528829	single nucleotide variant	NM_021927.3(GUF1):c.1917A>G (p.Gln639=)	not provided [RCV002094274]	likely benign	4	44698588	44698588	Human		name
152088833	CV1577258	single nucleotide variant	NM_021927.3(GUF1):c.1023G>A (p.Lys341=)	not provided [RCV002212439]	likely benign	4	44688091	44688091	Human		name
152042459	CV1603473	single nucleotide variant	NM_021927.3(GUF1):c.1332A>C (p.Ile444=)	not provided [RCV002071197]	likely benign	4	44689972	44689972	Human		name
152103927	CV1614414	single nucleotide variant	NM_021927.3(GUF1):c.1962T>C (p.Val654=)	not provided [RCV002079341]	likely benign	4	44698633	44698633	Human		name
152156060	CV1629656	single nucleotide variant	NM_021927.3(GUF1):c.1548T>C (p.Phe516=)	not provided [RCV002202670]	likely benign	4	44691734	44691734	Human		name
152126162	CV1630394	single nucleotide variant	NM_021927.3(GUF1):c.1596A>G (p.Leu532=)	not provided [RCV002154904]	likely benign	4	44691782	44691782	Human		name
152080339	CV1650048	single nucleotide variant	NM_021927.3(GUF1):c.1443A>T (p.Pro481=)	not provided [RCV002092759]	likely benign	4	44690824	44690824	Human		name
152080376	CV1650057	single nucleotide variant	NM_021927.3(GUF1):c.1356T>C (p.Ile452=)	not provided [RCV002092763]	likely benign	4	44690737	44690737	Human		name
152068149	CV1653966	single nucleotide variant	NM_021927.3(GUF1):c.1059G>A (p.Ala353=)	not provided [RCV002111081]	likely benign	4	44688127	44688127	Human		name
152028896	CV1655449	single nucleotide variant	NM_021927.3(GUF1):c.1320A>G (p.Ser440=)	not provided [RCV002105396]	likely benign	4	44689960	44689960	Human		name
156319092	CV1897691	single nucleotide variant	NM_021927.3(GUF1):c.1476C>T (p.Cys492=)	not provided [RCV002579129]	likely benign	4	44690857	44690857	Human		name
156202731	CV1952588	single nucleotide variant	NM_021927.3(GUF1):c.118C>G (p.Pro40Ala)	not provided [RCV002574838]\|not specified [RCV005350950]	likely benign\|uncertain significance	4	44678740	44678740	Human		name
156268309	CV1957075	single nucleotide variant	NM_021927.3(GUF1):c.1623C>T (p.Tyr541=)	not provided [RCV002577079]	likely benign	4	44694421	44694421	Human		name
156352494	CV1965561	single nucleotide variant	NM_021927.3(GUF1):c.1753C>A (p.Arg585=)	not provided [RCV002581161]	likely benign	4	44695652	44695652	Human		name
156267936	CV1994043	single nucleotide variant	NM_021927.3(GUF1):c.229G>C (p.Val77Leu)	not provided [RCV002646436]	uncertain significance	4	44680504	44680504	Human		name
156121949	CV2039905	single nucleotide variant	NM_021927.3(GUF1):c.275C>T (p.Thr92Ile)	not provided [RCV002785826]	uncertain significance	4	44680550	44680550	Human		name
156145492	CV2052713	single nucleotide variant	NM_021927.3(GUF1):c.1359A>T (p.Thr453=)	not provided [RCV002801114]	likely benign	4	44690740	44690740	Human		name
156321445	CV2123827	single nucleotide variant	NM_021927.3(GUF1):c.1365C>T (p.Ile455=)	not provided [RCV002963230]	likely benign	4	44690746	44690746	Human		name
155904454	CV2127187	single nucleotide variant	NM_021927.3(GUF1):c.1824T>C (p.Ile608=)	not provided [RCV002967624]	likely benign	4	44695723	44695723	Human		name
156148395	CV2131080	single nucleotide variant	NM_021927.3(GUF1):c.1857C>T (p.Asn619=)	not provided [RCV002982563]	benign	4	44697429	44697429	Human		name
155913830	CV2145082	single nucleotide variant	NM_021927.3(GUF1):c.165G>C (p.Lys55Asn)	not provided [RCV002991518]	uncertain significance	4	44678787	44678787	Human		name
156275469	CV2164366	single nucleotide variant	NM_021927.3(GUF1):c.215G>A (p.Ser72Asn)	not provided [RCV003027136]	uncertain significance	4	44680490	44680490	Human		name
156218422	CV2171997	single nucleotide variant	NM_021927.3(GUF1):c.275C>A (p.Thr92Lys)	not provided [RCV003042619]	uncertain significance	4	44680550	44680550	Human		name
156199805	CV2182759	single nucleotide variant	NM_021927.3(GUF1):c.150C>A (p.Ser50Arg)	not provided [RCV003024410]	uncertain significance	4	44678772	44678772	Human		name
156222844	CV2232856	single nucleotide variant	NM_021927.3(GUF1):c.100C>A (p.Pro34Thr)	not specified [RCV004101472]	uncertain significance	4	44678722	44678722	Human		name
156396443	CV2326276	single nucleotide variant	NM_021927.3(GUF1):c.141G>C (p.Arg47Ser)	not specified [RCV004180525]	uncertain significance	4	44678763	44678763	Human		name
329352864	CV2476930	single nucleotide variant	NM_021927.3(GUF1):c.162C>A (p.Phe54Leu)	not provided [RCV003223162]	uncertain significance	4	44678784	44678784	Human		name
401773418	CV2716563	single nucleotide variant	NM_021927.3(GUF1):c.286G>T (p.Asp96Tyr)	not specified [RCV004327638]	uncertain significance	4	44680702	44680702	Human		name
401861468	CV2779769	single nucleotide variant	NM_021927.3(GUF1):c.115G>A (p.Ala39Thr)	not specified [RCV004353405]	uncertain significance	4	44678737	44678737	Human		name
405066890	CV2875470	single nucleotide variant	NM_021927.3(GUF1):c.1009T>C (p.Leu337=)	not provided [RCV003548291]	likely benign	4	44688077	44688077	Human		name
405035343	CV2923494	single nucleotide variant	NM_021927.3(GUF1):c.1554G>A (p.Leu518=)	not provided [RCV003578655]	likely benign	4	44691740	44691740	Human		name
402509185	CV2938390	single nucleotide variant	NM_021927.3(GUF1):c.1098A>G (p.Gln366=)	not provided [RCV003662322]	likely benign	4	44689305	44689305	Human		name
405126779	CV2958527	single nucleotide variant	NM_021927.3(GUF1):c.113C>A (p.Ala38Asp)	not provided [RCV003668000]	uncertain significance	4	44678735	44678735	Human		name
405007641	CV3006538	single nucleotide variant	NM_021927.3(GUF1):c.1977T>C (p.Phe659=)	not provided [RCV003693717]	likely benign	4	44698648	44698648	Human		name
405175546	CV3023649	single nucleotide variant	NM_021927.3(GUF1):c.177C>G (p.Asp59Glu)	not provided [RCV003705056]	uncertain significance	4	44680452	44680452	Human		name
405166239	CV3059652	single nucleotide variant	NM_021927.3(GUF1):c.1953C>T (p.Asn651=)	GUF1-related disorder [RCV003956538]\|not provided [RCV003727470]	likely benign	4	44698624	44698624	Human	1	name , trait , alternate_id
405227910	CV3065677	single nucleotide variant	NM_021927.3(GUF1):c.1341T>C (p.His447=)	not provided [RCV003734379]	likely benign	4	44690722	44690722	Human		name
405129904	CV3163383	single nucleotide variant	NM_021927.3(GUF1):c.1137G>A (p.Leu379=)	not provided [RCV003854564]	likely benign	4	44689344	44689344	Human		name
405206330	CV3165624	single nucleotide variant	NM_021927.3(GUF1):c.1002A>T (p.Gly334=)	not provided [RCV003861290]	uncertain significance	4	44688070	44688070	Human		name
405720220	CV3255741	single nucleotide variant	NM_021927.3(GUF1):c.118C>T (p.Pro40Ser)	not specified [RCV004388698]	uncertain significance	4	44678740	44678740	Human		name
597830849	CV3743581	single nucleotide variant	NM_021927.3(GUF1):c.220G>T (p.Val74Phe)	not provided [RCV005062398]\|not specified [RCV005353384]	uncertain significance	4	44680495	44680495	Human		name
597971348	CV3750701	single nucleotide variant	NM_021927.3(GUF1):c.1863G>A (p.Leu621=)	not provided [RCV005084445]	uncertain significance	4	44697435	44697435	Human		name
597962395	CV3791434	deletion	NM_021927.3(GUF1):c.403del (p.Leu135fs)	not provided [RCV005139188]	uncertain significance	4	44680818	44680818	Human		name
597956681	CV3792462	single nucleotide variant	NM_021927.3(GUF1):c.283A>C (p.Ile95Leu)	not provided [RCV005137349]	uncertain significance	4	44680699	44680699	Human		name
597974810	CV3798584	single nucleotide variant	NM_021927.3(GUF1):c.146A>G (p.Tyr49Cys)	not provided [RCV005144172]	uncertain significance	4	44678768	44678768	Human		name
597856009	CV3821898	single nucleotide variant	NM_021927.3(GUF1):c.1284A>C (p.Thr428=)	not provided [RCV005174376]	likely benign	4	44689924	44689924	Human		name
597847445	CV3827988	single nucleotide variant	NM_021927.3(GUF1):c.127T>C (p.Trp43Arg)	not provided [RCV005173063]	uncertain significance	4	44678749	44678749	Human		name
15166302	CV720982	single nucleotide variant	NM_021927.3(GUF1):c.283A>G (p.Ile95Val)	GUF1-related disorder [RCV003955852]\|not provided [RCV000882603]	benign	4	44680699	44680699	Human	1	name , trait , alternate_id
15184760	CV720984	single nucleotide variant	NM_021927.3(GUF1):c.1383C>T (p.Pro461=)	GUF1-related disorder [RCV004757302]\|not provided [RCV000886520]	benign\|likely benign	4	44690764	44690764	Human	1	name , trait , alternate_id
15175607	CV734647	single nucleotide variant	NM_021927.3(GUF1):c.1936C>T (p.Leu646=)	not provided [RCV000906255]	likely benign	4	44698607	44698607	Human		name
15104176	CV764473	single nucleotide variant	NM_021927.3(GUF1):c.1233A>G (p.Glu411=)	not provided [RCV000937336]	likely benign	4	44689873	44689873	Human		name
15202184	CV764474	single nucleotide variant	NM_021927.3(GUF1):c.1569A>G (p.Val523=)	not provided [RCV000935873]	likely benign	4	44691755	44691755	Human		name
151779016	CV1352153	single nucleotide variant	NM_021927.3(GUF1):c.838G>C (p.Val280Leu)	not provided [RCV002009563]	uncertain significance	4	44686613	44686613	Human		name
151876311	CV1360205	single nucleotide variant	NM_021927.3(GUF1):c.411T>A (p.Asn137Lys)	not provided [RCV001907108]	uncertain significance	4	44680827	44680827	Human		name
151790023	CV1370302	single nucleotide variant	NM_021927.3(GUF1):c.524C>G (p.Thr175Ser)	not provided [RCV001972960]	uncertain significance	4	44682350	44682350	Human		name
151739458	CV1379380	single nucleotide variant	NM_021927.3(GUF1):c.479G>A (p.Gly160Asp)	not provided [RCV001911785]	uncertain significance	4	44681175	44681175	Human		name
151741346	CV1386642	single nucleotide variant	NM_021927.3(GUF1):c.620A>G (p.Glu207Gly)	not provided [RCV001893298]	uncertain significance	4	44683269	44683269	Human		name
151774761	CV1419909	single nucleotide variant	NM_021927.3(GUF1):c.494T>C (p.Val165Ala)	not provided [RCV001988583]	uncertain significance	4	44681190	44681190	Human		name
151884617	CV1424873	single nucleotide variant	NM_021927.3(GUF1):c.386G>C (p.Cys129Ser)	not provided [RCV001887186]	uncertain significance	4	44680802	44680802	Human		name
151748728	CV1430227	single nucleotide variant	NM_021927.3(GUF1):c.689C>G (p.Thr230Arg)	not provided [RCV002006629]	uncertain significance	4	44685978	44685978	Human		name
151789375	CV1434468	single nucleotide variant	NM_021927.3(GUF1):c.607C>T (p.Pro203Ser)	not provided [RCV001876360]	uncertain significance	4	44683256	44683256	Human		name
151870090	CV1436629	single nucleotide variant	NM_021927.3(GUF1):c.361C>T (p.Gln121Ter)	not provided [RCV002018820]	uncertain significance	4	44680777	44680777	Human		name
151848364	CV1441827	single nucleotide variant	NM_021927.3(GUF1):c.587T>G (p.Ile196Arg)	not provided [RCV001995637]	uncertain significance	4	44683236	44683236	Human		name
151882326	CV1443179	single nucleotide variant	NM_021927.3(GUF1):c.706C>T (p.Leu236Phe)	not provided [RCV002037117]	uncertain significance	4	44685995	44685995	Human		name
151780345	CV1446241	single nucleotide variant	NM_021927.3(GUF1):c.335G>A (p.Arg112Gln)	not provided [RCV001989073]	uncertain significance	4	44680751	44680751	Human		name
151870284	CV1466540	single nucleotide variant	NM_021927.3(GUF1):c.801A>T (p.Arg267Ser)	not provided [RCV001925114]\|not specified [RCV004042542]	uncertain significance	4	44686576	44686576	Human		name
151713926	CV1473276	single nucleotide variant	NM_021927.3(GUF1):c.398A>G (p.Gln133Arg)	not provided [RCV001889945]	uncertain significance	4	44680814	44680814	Human		name
151877952	CV1475854	single nucleotide variant	NM_021927.3(GUF1):c.992C>T (p.Ala331Val)	not provided [RCV002019773]\|not specified [RCV005343247]	uncertain significance	4	44688060	44688060	Human		name
151794129	CV1482689	single nucleotide variant	NM_021927.3(GUF1):c.828T>G (p.Phe276Leu)	not provided [RCV002047382]	uncertain significance	4	44686603	44686603	Human		name
151721481	CV1488898	single nucleotide variant	NM_021927.3(GUF1):c.677C>G (p.Ala226Gly)	not provided [RCV002040145]	uncertain significance	4	44685966	44685966	Human		name
151840005	CV1493034	single nucleotide variant	NM_021927.3(GUF1):c.715A>G (p.Ile239Val)	not provided [RCV001881232]\|not specified [RCV003401818]	uncertain significance	4	44686004	44686004	Human		name
151754500	CV1498788	single nucleotide variant	NM_021927.3(GUF1):c.500C>G (p.Ala167Gly)	not provided [RCV002023720]	uncertain significance	4	44681196	44681196	Human		name
151837819	CV1501256	single nucleotide variant	NM_021927.3(GUF1):c.851A>G (p.Asp284Gly)	not provided [RCV001977339]\|not specified [RCV004042221]	uncertain significance	4	44686626	44686626	Human		name
152167306	CV1524631	single nucleotide variant	NM_021927.3(GUF1):c.859G>A (p.Val287Ile)	not provided [RCV002142128]	likely benign	4	44686634	44686634	Human		name
152026124	CV1540549	single nucleotide variant	NM_021927.3(GUF1):c.829G>A (p.Asp277Asn)	not provided [RCV002104450]	benign	4	44686604	44686604	Human		name
152115929	CV1662446	single nucleotide variant	NM_021927.3(GUF1):c.658G>T (p.Glu220Ter)	not provided [RCV002097483]	likely benign	4	44683307	44683307	Human		name
155266321	CV1699765	single nucleotide variant	NM_021927.3(GUF1):c.922C>T (p.Gln308Ter)	not specified [RCV002281867]	uncertain significance	4	44686697	44686697	Human		name
155740892	CV1777085	single nucleotide variant	NM_021927.3(GUF1):c.559C>G (p.Leu187Val)	not provided [RCV002302381]	uncertain significance	4	44682385	44682385	Human		name
156315984	CV1901227	single nucleotide variant	NM_021927.3(GUF1):c.902G>A (p.Gly301Glu)	not provided [RCV002578954]	uncertain significance	4	44686677	44686677	Human		name
156361714	CV1904952	single nucleotide variant	NM_021927.3(GUF1):c.815A>C (p.Asn272Thr)	not provided [RCV002602545]	uncertain significance	4	44686590	44686590	Human		name
156129843	CV1966162	single nucleotide variant	NM_021927.3(GUF1):c.386G>A (p.Cys129Tyr)	not provided [RCV002593452]\|not specified [RCV004064622]	uncertain significance	4	44680802	44680802	Human		name
156216634	CV1980340	microsatellite	NM_021927.3(GUF1):c.44_45del (p.Leu15fs)	not provided [RCV002626288]	uncertain significance	4	44678663	44678664	Human		name
156391837	CV1991392	single nucleotide variant	NM_021927.3(GUF1):c.734C>T (p.Pro245Leu)	not provided [RCV002635067]	uncertain significance	4	44686023	44686023	Human		name
156384952	CV2001763	single nucleotide variant	NM_021927.3(GUF1):c.563C>T (p.Ser188Leu)	not provided [RCV002653925]	uncertain significance	4	44682389	44682389	Human		name
156373248	CV2003682	single nucleotide variant	NM_021927.3(GUF1):c.376T>G (p.Phe126Val)	not provided [RCV002653078]	uncertain significance	4	44680792	44680792	Human		name
156366746	CV2020959	single nucleotide variant	NM_021927.3(GUF1):c.527T>G (p.Val176Gly)	not provided [RCV002721234]	uncertain significance	4	44682353	44682353	Human		name
155959159	CV2029754	duplication	NM_021927.3(GUF1):c.1342dup (p.Arg448fs)	not provided [RCV002731092]	uncertain significance	4	44690722	44690723	Human		name
10398627	CV204102	single nucleotide variant	NM_021927.3(GUF1):c.655G>T (p.Asp219Tyr)	Long QT syndrome [RCV000190192]	likely benign	4	44683304	44683304	Human	2	name
155938478	CV2041443	single nucleotide variant	NM_021927.3(GUF1):c.488T>G (p.Leu163Arg)	not provided [RCV002775036]	uncertain significance	4	44681184	44681184	Human		name
156109317	CV2042368	single nucleotide variant	NM_021927.3(GUF1):c.526G>A (p.Val176Ile)	not provided [RCV002785333]	uncertain significance	4	44682352	44682352	Human		name
156058848	CV2060800	single nucleotide variant	NM_021927.3(GUF1):c.707T>C (p.Leu236Pro)	not provided [RCV002797026]	uncertain significance	4	44685996	44685996	Human		name
156389571	CV2122327	single nucleotide variant	NM_021927.3(GUF1):c.553G>A (p.Ala185Thr)	not provided [RCV002943758]\|not specified [RCV004068111]	uncertain significance	4	44682379	44682379	Human		name
156012494	CV2124697	single nucleotide variant	NM_021927.3(GUF1):c.885C>A (p.Tyr295Ter)	not provided [RCV002948349]	uncertain significance	4	44686660	44686660	Human		name
156285702	CV2134119	single nucleotide variant	NM_021927.3(GUF1):c.979G>C (p.Asp327His)	not provided [RCV003009760]	uncertain significance	4	44688047	44688047	Human		name
156183069	CV2151873	single nucleotide variant	NM_021927.3(GUF1):c.689C>T (p.Thr230Ile)	not provided [RCV003005767]	uncertain significance	4	44685978	44685978	Human		name
156063839	CV2228844	single nucleotide variant	NM_021927.3(GUF1):c.958T>C (p.Tyr320His)	not specified [RCV004095081]	uncertain significance	4	44688026	44688026	Human		name
401741296	CV2690456	single nucleotide variant	NM_021927.3(GUF1):c.602C>T (p.Ala201Val)	not provided [RCV003720826]\|not specified [RCV004304226]	uncertain significance	4	44683251	44683251	Human		name
401739641	CV2704607	single nucleotide variant	NM_021927.3(GUF1):c.739A>C (p.Lys247Gln)	not specified [RCV004313644]	uncertain significance	4	44686514	44686514	Human		name
401774529	CV2727869	single nucleotide variant	NM_021927.3(GUF1):c.549C>A (p.Phe183Leu)	not specified [RCV004323884]	uncertain significance	4	44682375	44682375	Human		name
401892131	CV2777259	single nucleotide variant	NM_021927.3(GUF1):c.887A>G (p.Glu296Gly)	not specified [RCV004354284]	uncertain significance	4	44686662	44686662	Human		name
402484742	CV2855177	duplication	NM_021927.3(GUF1):c.1134dup (p.Leu379fs)	not provided [RCV003544364]	uncertain significance	4	44689336	44689337	Human		name
405192704	CV2925396	duplication	NM_021927.3(GUF1):c.884dup (p.Tyr295Ter)	not provided [RCV003565057]	uncertain significance	4	44686658	44686659	Human		name
402501719	CV2943642	single nucleotide variant	NM_021927.3(GUF1):c.652A>G (p.Ser218Gly)	not provided [RCV003661588]	uncertain significance	4	44683301	44683301	Human		name
402491340	CV2949123	single nucleotide variant	NM_021927.3(GUF1):c.478G>C (p.Gly160Arg)	not provided [RCV003660577]	uncertain significance	4	44681174	44681174	Human		name
405162585	CV2960422	single nucleotide variant	NM_021927.3(GUF1):c.662G>T (p.Cys221Phe)	not provided [RCV003674790]	uncertain significance	4	44683311	44683311	Human		name
405214394	CV2981392	single nucleotide variant	NM_021927.3(GUF1):c.850G>A (p.Asp284Asn)	not provided [RCV003709122]	uncertain significance	4	44686625	44686625	Human		name
405120184	CV3027121	single nucleotide variant	NM_021927.3(GUF1):c.367G>A (p.Ala123Thr)	not provided [RCV003700675]\|not specified [RCV004371907]	uncertain significance	4	44680783	44680783	Human		name
405184665	CV3040269	single nucleotide variant	NM_021927.3(GUF1):c.811G>A (p.Ala271Thr)	not provided [RCV003705899]	uncertain significance	4	44686586	44686586	Human		name
405240752	CV3060915	single nucleotide variant	NM_021927.3(GUF1):c.691A>G (p.Asn231Asp)	not provided [RCV003737207]\|not specified [RCV004927943]	uncertain significance	4	44685980	44685980	Human		name
405229141	CV3075481	single nucleotide variant	NM_021927.3(GUF1):c.833G>T (p.Gly278Val)	not provided [RCV003734591]	uncertain significance	4	44686608	44686608	Human		name
405142033	CV3125949	single nucleotide variant	NM_021927.3(GUF1):c.928A>G (p.Thr310Ala)	not provided [RCV003816865]	uncertain significance	4	44686703	44686703	Human		name
405023256	CV3139394	single nucleotide variant	NM_021927.3(GUF1):c.658G>A (p.Glu220Lys)	not provided [RCV003830037]	uncertain significance	4	44683307	44683307	Human		name
405174574	CV3150562	single nucleotide variant	NM_021927.3(GUF1):c.422C>A (p.Thr141Lys)	not provided [RCV003841836]	uncertain significance	4	44680838	44680838	Human		name
405187722	CV3156500	single nucleotide variant	NM_021927.3(GUF1):c.334C>T (p.Arg112Ter)	not provided [RCV003859378]	uncertain significance	4	44680750	44680750	Human		name
405152598	CV3163022	single nucleotide variant	NM_021927.3(GUF1):c.416T>C (p.Ile139Thr)	not provided [RCV003856465]	uncertain significance	4	44680832	44680832	Human		name
405129891	CV3163382	single nucleotide variant	NM_021927.3(GUF1):c.788T>C (p.Phe263Ser)	not provided [RCV003854563]	uncertain significance	4	44686563	44686563	Human		name
402475147	CV3172703	single nucleotide variant	NM_021927.3(GUF1):c.425C>T (p.Pro142Leu)	not provided [RCV003875121]	uncertain significance	4	44680841	44680841	Human		name
402470753	CV3175255	single nucleotide variant	NM_021927.3(GUF1):c.995A>G (p.Gln332Arg)	not provided [RCV003874187]	uncertain significance	4	44688063	44688063	Human		name
405720266	CV3255747	single nucleotide variant	NM_021927.3(GUF1):c.342A>T (p.Arg114Ser)	not specified [RCV004388704]	uncertain significance	4	44680758	44680758	Human		name
407513379	CV3443675	single nucleotide variant	NM_021927.3(GUF1):c.838G>A (p.Val280Ile)	not specified [RCV004627171]	uncertain significance	4	44686613	44686613	Human		name
597757389	CV3685109	single nucleotide variant	NM_021927.3(GUF1):c.424C>A (p.Pro142Thr)	not specified [RCV004925069]	uncertain significance	4	44680840	44680840	Human		name
597869181	CV3764581	single nucleotide variant	NM_021927.3(GUF1):c.371C>T (p.Ser124Phe)	not provided [RCV005107381]	uncertain significance	4	44680787	44680787	Human		name
597952279	CV3765605	single nucleotide variant	NM_021927.3(GUF1):c.946G>A (p.Gly316Arg)	not provided [RCV005121249]	uncertain significance	4	44688014	44688014	Human		name
597921755	CV3777410	single nucleotide variant	NM_021927.3(GUF1):c.831C>A (p.Asp277Glu)	not provided [RCV005130339]	uncertain significance	4	44686606	44686606	Human		name
597883242	CV3799393	single nucleotide variant	NM_021927.3(GUF1):c.985A>T (p.Thr329Ser)	not provided [RCV005150060]	uncertain significance	4	44688053	44688053	Human		name
597925814	CV3819023	single nucleotide variant	NM_021927.3(GUF1):c.455C>T (p.Ser152Phe)	not provided [RCV005156354]	uncertain significance	4	44681151	44681151	Human		name
597887801	CV3859386	single nucleotide variant	NM_021927.3(GUF1):c.944C>T (p.Ala315Val)	not provided [RCV005200042]	uncertain significance	4	44688012	44688012	Human		name
598129158	CV3888451	single nucleotide variant	NM_021927.3(GUF1):c.932A>G (p.His311Arg)	not provided [RCV005244625]	uncertain significance	4	44686707	44686707	Human		name
598129164	CV3888457	single nucleotide variant	NM_021927.3(GUF1):c.645T>G (p.Asp215Glu)	not provided [RCV005244631]	uncertain significance	4	44683294	44683294	Human		name
598253591	CV3974961	single nucleotide variant	NM_021927.3(GUF1):c.733C>T (p.Pro245Ser)	not specified [RCV005346287]	uncertain significance	4	44686022	44686022	Human		name
598253598	CV3974962	single nucleotide variant	NM_021927.3(GUF1):c.490G>A (p.Val164Met)	not specified [RCV005346288]	uncertain significance	4	44681186	44681186	Human		name
13462343	CV438644	single nucleotide variant	NM_021927.3(GUF1):c.748C>T (p.Arg250Cys)	GUF1-related disorder [RCV003925521]\|not provided [RCV000513990]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	44686523	44686523	Human	1	name , trait , alternate_id
15137748	CV709370	single nucleotide variant	NM_021927.3(GUF1):c.443G>T (p.Ser148Ile)	GUF1-related disorder [RCV003905899]\|not provided [RCV000965673]	likely benign	4	44681139	44681139	Human	1	name , trait , alternate_id
15144915	CV709371	single nucleotide variant	NM_021927.3(GUF1):c.662G>C (p.Cys221Ser)	GUF1-related disorder [RCV003972859]\|not provided [RCV000966909]	likely benign	4	44683311	44683311	Human	1	name , trait , alternate_id
15160614	CV734645	single nucleotide variant	NM_021927.3(GUF1):c.514C>G (p.Gln172Glu)	Developmental and epileptic encephalopathy, 40 [RCV003132121]\|not provided [RCV000903180]	likely benign\|uncertain significance	4	44682340	44682340	Human	1	name
21068844	CV795583	single nucleotide variant	NM_021927.3(GUF1):c.809T>C (p.Ile270Thr)	Developmental and epileptic encephalopathy, 40 [RCV004761857]\|not provided [RCV000998235]\|not specified [RCV004030238]	uncertain significance	4	44686584	44686584	Human	1	name
126727407	CV1016418	single nucleotide variant	NM_021927.3(GUF1):c.1934A>G (p.Lys645Arg)	Developmental and epileptic encephalopathy, 40 [RCV001332417]\|not provided [RCV002546561]	uncertain significance	4	44698605	44698605	Human	1	name
126727410	CV1016419	single nucleotide variant	NM_021927.3(GUF1):c.1954G>A (p.Val652Ile)	Developmental and epileptic encephalopathy, 40 [RCV001332418]\|not provided [RCV001871834]\|not specified [RCV004035739]	likely benign\|uncertain significance	4	44698625	44698625	Human	1	name
151728635	CV1338946	single nucleotide variant	NM_021927.3(GUF1):c.1042C>T (p.Pro348Ser)	not provided [RCV002004546]\|not specified [RCV004043908]	uncertain significance	4	44688110	44688110	Human		name
151869554	CV1339306	single nucleotide variant	NM_021927.3(GUF1):c.1228A>G (p.Met410Val)	not provided [RCV001998153]	uncertain significance	4	44689868	44689868	Human		name
151864097	CV1346488	single nucleotide variant	NM_021927.3(GUF1):c.1501A>C (p.Asn501His)	not provided [RCV001959609]	uncertain significance	4	44691687	44691687	Human		name
151858448	CV1347646	single nucleotide variant	NM_021927.3(GUF1):c.1489G>A (p.Ala497Thr)	not provided [RCV002034067]	uncertain significance	4	44691675	44691675	Human		name
151803343	CV1352298	single nucleotide variant	NM_021927.3(GUF1):c.1754G>A (p.Arg585Gln)	not provided [RCV002048179]\|not specified [RCV004046232]	uncertain significance	4	44695653	44695653	Human		name
151877737	CV1360518	single nucleotide variant	NM_021927.3(GUF1):c.1247G>A (p.Arg416Gln)	not provided [RCV001907278]	uncertain significance	4	44689887	44689887	Human		name
151851513	CV1362176	single nucleotide variant	NM_021927.3(GUF1):c.1988T>A (p.Leu663Gln)	not provided [RCV001979004]	uncertain significance	4	44698659	44698659	Human		name
151824622	CV1373308	single nucleotide variant	NM_021927.3(GUF1):c.1313T>C (p.Leu438Pro)	not provided [RCV001934476]	uncertain significance	4	44689953	44689953	Human		name
151810585	CV1376510	single nucleotide variant	NM_021927.3(GUF1):c.1186C>G (p.Leu396Val)	not provided [RCV001899904]	uncertain significance	4	44689393	44689393	Human		name
151841976	CV1379581	single nucleotide variant	NM_021927.3(GUF1):c.1346A>G (p.Glu449Gly)	not provided [RCV001936230]\|not specified [RCV004041846]	uncertain significance	4	44690727	44690727	Human		name
151782600	CV1383445	single nucleotide variant	NM_021927.3(GUF1):c.1732A>G (p.Ile578Val)	not provided [RCV001865104]\|not specified [RCV005350678]	likely benign\|uncertain significance	4	44695631	44695631	Human		name
151834159	CV1384827	single nucleotide variant	NM_021927.3(GUF1):c.1277T>C (p.Ile426Thr)	not provided [RCV001955978]\|not specified [RCV004043696]	uncertain significance	4	44689917	44689917	Human		name
151854789	CV1391038	single nucleotide variant	NM_021927.3(GUF1):c.1942A>T (p.Lys648Ter)	not provided [RCV001958455]	uncertain significance	4	44698613	44698613	Human		name
151795123	CV1393183	single nucleotide variant	NM_021927.3(GUF1):c.1162G>A (p.Val388Ile)	not provided [RCV001952411]	uncertain significance	4	44689369	44689369	Human		name
151719675	CV1397649	single nucleotide variant	NM_021927.3(GUF1):c.1892G>A (p.Arg631Gln)	not provided [RCV001982868]	uncertain significance	4	44698563	44698563	Human		name
151878991	CV1398609	single nucleotide variant	NM_021927.3(GUF1):c.1216G>C (p.Gly406Arg)	GUF1-related disorder [RCV003913482]\|not provided [RCV002019897]	likely benign	4	44689856	44689856	Human	1	name , trait , alternate_id
151879741	CV1412728	single nucleotide variant	NM_021927.3(GUF1):c.1902G>C (p.Lys634Asn)	not provided [RCV001926274]	uncertain significance	4	44698573	44698573	Human		name
151730663	CV1420616	single nucleotide variant	NM_021927.3(GUF1):c.1712A>G (p.His571Arg)	not provided [RCV002041163]\|not specified [RCV004046899]	uncertain significance	4	44694510	44694510	Human		name
151795365	CV1421199	single nucleotide variant	NM_021927.3(GUF1):c.1360A>T (p.Ile454Phe)	not provided [RCV001917205]\|not specified [RCV004041190]	uncertain significance	4	44690741	44690741	Human		name
151769581	CV1424598	single nucleotide variant	NM_021927.3(GUF1):c.1484G>A (p.Arg495Gln)	not provided [RCV001874317]\|not specified [RCV004040425]	uncertain significance	4	44691670	44691670	Human		name
151805926	CV1429983	single nucleotide variant	NM_021927.3(GUF1):c.1883A>G (p.Asp628Gly)	not provided [RCV001974335]\|not specified [RCV005350820]	uncertain significance	4	44698554	44698554	Human		name
151783738	CV1435134	single nucleotide variant	NM_021927.3(GUF1):c.1066A>G (p.Met356Val)	not provided [RCV001916116]	uncertain significance	4	44688134	44688134	Human		name
151832415	CV1455900	single nucleotide variant	NM_021927.3(GUF1):c.1919C>A (p.Ala640Glu)	not provided [RCV002050853]	uncertain significance	4	44698590	44698590	Human		name
151805157	CV1457050	single nucleotide variant	NM_021927.3(GUF1):c.1901A>T (p.Lys634Met)	not provided [RCV001877731]\|not specified [RCV004927736]	uncertain significance	4	44698572	44698572	Human		name
151748954	CV1460325	single nucleotide variant	NM_021927.3(GUF1):c.1735G>T (p.Gly579Cys)	not provided [RCV001894126]	uncertain significance	4	44695634	44695634	Human		name
151778979	CV1463415	single nucleotide variant	NM_021927.3(GUF1):c.1912A>G (p.Arg638Gly)	not provided [RCV001875177]	uncertain significance	4	44698583	44698583	Human		name
151883219	CV1475106	single nucleotide variant	NM_021927.3(GUF1):c.1253A>G (p.Glu418Gly)	not provided [RCV001941461]	uncertain significance	4	44689893	44689893	Human		name
151794105	CV1482687	single nucleotide variant	NM_021927.3(GUF1):c.1355T>C (p.Ile452Thr)	not provided [RCV002047380]	uncertain significance	4	44690736	44690736	Human		name
151871873	CV1487782	single nucleotide variant	NM_021927.3(GUF1):c.1441C>T (p.Pro481Ser)	not provided [RCV001981406]	uncertain significance	4	44690822	44690822	Human		name
151832341	CV1488016	single nucleotide variant	NM_021927.3(GUF1):c.1703C>T (p.Thr568Ile)	not provided [RCV001955799]	uncertain significance	4	44694501	44694501	Human		name
151876469	CV1490136	single nucleotide variant	NM_021927.3(GUF1):c.1858G>A (p.Val620Ile)	not provided [RCV001940456]	uncertain significance	4	44697430	44697430	Human		name
151756544	CV1499021	single nucleotide variant	NM_021927.3(GUF1):c.1916A>G (p.Gln639Arg)	not provided [RCV002023901]	uncertain significance	4	44698587	44698587	Human		name
151824048	CV1506861	single nucleotide variant	NM_021927.3(GUF1):c.1241A>G (p.Asn414Ser)	not provided [RCV001955049]	uncertain significance	4	44689881	44689881	Human		name
151866170	CV1508196	single nucleotide variant	NM_021927.3(GUF1):c.1719C>G (p.Asp573Glu)	not provided [RCV001997757]	uncertain significance	4	44695618	44695618	Human		name
151874152	CV1511433	single nucleotide variant	NM_021927.3(GUF1):c.1564G>T (p.Val522Leu)	not provided [RCV001960832]	uncertain significance	4	44691750	44691750	Human		name
152166664	CV1523351	single nucleotide variant	NM_021927.3(GUF1):c.1726C>T (p.His576Tyr)	not provided [RCV002181981]	likely benign	4	44695625	44695625	Human		name
152055617	CV1590913	single nucleotide variant	NM_021927.3(GUF1):c.1169G>A (p.Arg390Gln)	not provided [RCV002109500]\|not specified [RCV004046268]	likely benign\|uncertain significance	4	44689376	44689376	Human		name
152102823	CV1667331	single nucleotide variant	NM_021927.3(GUF1):c.1081A>G (p.Met361Val)	not provided [RCV002214318]	uncertain significance	4	44689288	44689288	Human		name
155700575	CV1773091	single nucleotide variant	NM_021927.3(GUF1):c.1831G>A (p.Glu611Lys)	not provided [RCV002295603]	uncertain significance	4	44695730	44695730	Human		name
156373994	CV1901991	single nucleotide variant	NM_021927.3(GUF1):c.1013G>A (p.Cys338Tyr)	not provided [RCV003092704]	uncertain significance	4	44688081	44688081	Human		name
156357344	CV1928553	single nucleotide variant	NM_021927.3(GUF1):c.1807A>G (p.Ile603Val)	not provided [RCV002651384]	uncertain significance	4	44695706	44695706	Human		name
156211936	CV1933980	single nucleotide variant	NM_021927.3(GUF1):c.1745T>C (p.Ile582Thr)	not provided [RCV002644033]	uncertain significance	4	44695644	44695644	Human		name
156222284	CV1981375	single nucleotide variant	NM_021927.3(GUF1):c.1747T>G (p.Cys583Gly)	not provided [RCV002626491]	uncertain significance	4	44695646	44695646	Human		name
156322297	CV1992213	single nucleotide variant	NM_021927.3(GUF1):c.1886T>C (p.Ile629Thr)	not provided [RCV002649331]	uncertain significance	4	44698557	44698557	Human		name
156118617	CV2013471	single nucleotide variant	NM_021927.3(GUF1):c.1205T>C (p.Leu402Pro)	not provided [RCV002740112]	uncertain significance	4	44689845	44689845	Human		name
156055477	CV2023841	single nucleotide variant	NM_021927.3(GUF1):c.1749T>G (p.Cys583Trp)	not provided [RCV002736650]	uncertain significance	4	44695648	44695648	Human		name
155949354	CV2036265	single nucleotide variant	NM_021927.3(GUF1):c.1793C>G (p.Ala598Gly)	not provided [RCV002775686]\|not specified [RCV003994460]	uncertain significance	4	44695692	44695692	Human		name
156139042	CV2094420	single nucleotide variant	NM_021927.3(GUF1):c.1339C>T (p.His447Tyr)	not provided [RCV002890232]\|not specified [RCV004927858]	likely benign\|uncertain significance	4	44690720	44690720	Human		name
156142858	CV2113158	single nucleotide variant	NM_021927.3(GUF1):c.1250T>A (p.Leu417Gln)	Developmental and epileptic encephalopathy, 40 [RCV003134550]\|GUF1-related disorder [RCV003973559]\|not provided [RCV002914971]	likely benign\|uncertain significance	4	44689890	44689890	Human	1	name , trait , alternate_id
156341421	CV2225826	single nucleotide variant	NM_021927.3(GUF1):c.1200G>C (p.Trp400Cys)	not specified [RCV004103229]	uncertain significance	4	44689407	44689407	Human		name
156239909	CV2269269	single nucleotide variant	NM_021927.3(GUF1):c.1795A>G (p.Ile599Val)	not specified [RCV004130417]	uncertain significance	4	44695694	44695694	Human		name
329356460	CV2430761	single nucleotide variant	NM_021927.3(GUF1):c.1168C>T (p.Arg390Trp)	not specified [RCV004253941]	uncertain significance	4	44689375	44689375	Human		name
329395192	CV2458197	single nucleotide variant	NM_021927.3(GUF1):c.1720A>G (p.Lys574Glu)	not specified [RCV004265863]	uncertain significance	4	44695619	44695619	Human		name
329385929	CV2458602	single nucleotide variant	NM_021927.3(GUF1):c.1136T>A (p.Leu379Gln)	not specified [RCV004268278]	uncertain significance	4	44689343	44689343	Human		name
11531316	CV247507	single nucleotide variant	NM_021927.3(GUF1):c.1825G>T (p.Ala609Ser)	Developmental and epileptic encephalopathy, 40 [RCV000239484]	pathogenic	4	44695724	44695724	Human	1	name
401866275	CV2775485	single nucleotide variant	NM_021927.3(GUF1):c.1604G>T (p.Gly535Val)	not provided [RCV003699075]\|not specified [RCV004350665]	uncertain significance	4	44691790	44691790	Human		name
402515969	CV2855662	single nucleotide variant	NM_021927.3(GUF1):c.1208G>A (p.Gly403Glu)	not provided [RCV003547336]	uncertain significance	4	44689848	44689848	Human		name
402512864	CV2860082	single nucleotide variant	NM_021927.3(GUF1):c.1438A>C (p.Thr480Pro)	not provided [RCV003575249]	uncertain significance	4	44690819	44690819	Human		name
405121225	CV2888085	single nucleotide variant	NM_021927.3(GUF1):c.1058C>T (p.Ala353Val)	not provided [RCV003559113]\|not specified [RCV004369164]	uncertain significance	4	44688126	44688126	Human		name
405226421	CV2892474	single nucleotide variant	NM_021927.3(GUF1):c.1283C>A (p.Thr428Lys)	not provided [RCV003554742]	uncertain significance	4	44689923	44689923	Human		name
405212771	CV2918186	single nucleotide variant	NM_021927.3(GUF1):c.1082T>C (p.Met361Thr)	not provided [RCV003567374]	uncertain significance	4	44689289	44689289	Human		name
405072167	CV2944330	single nucleotide variant	NM_021927.3(GUF1):c.1342A>G (p.Arg448Gly)	not provided [RCV003659485]	uncertain significance	4	44690723	44690723	Human		name
405229066	CV2973869	single nucleotide variant	NM_021927.3(GUF1):c.1947T>G (p.Ile649Met)	not provided [RCV003681943]	uncertain significance	4	44698618	44698618	Human		name
405222303	CV2976272	single nucleotide variant	NM_021927.3(GUF1):c.1685C>G (p.Thr562Ser)	not provided [RCV003680878]	uncertain significance	4	44694483	44694483	Human		name
405129847	CV3010829	single nucleotide variant	NM_021927.3(GUF1):c.1019A>G (p.His340Arg)	not provided [RCV003701575]	uncertain significance	4	44688087	44688087	Human		name
405144882	CV3052247	single nucleotide variant	NM_021927.3(GUF1):c.1254G>C (p.Glu418Asp)	not provided [RCV003725965]\|not specified [RCV005353264]	uncertain significance	4	44689894	44689894	Human		name
405092134	CV3054661	single nucleotide variant	NM_021927.3(GUF1):c.1714A>G (p.Lys572Glu)	not provided [RCV003717893]	uncertain significance	4	44694512	44694512	Human		name
405211124	CV3059126	single nucleotide variant	NM_021927.3(GUF1):c.1477G>A (p.Glu493Lys)	not provided [RCV003732024]	uncertain significance	4	44690858	44690858	Human		name
405202404	CV3067056	single nucleotide variant	NM_021927.3(GUF1):c.1208G>C (p.Gly403Ala)	not provided [RCV003730907]	uncertain significance	4	44689848	44689848	Human		name
405047746	CV3071829	single nucleotide variant	NM_021927.3(GUF1):c.1246C>T (p.Arg416Ter)	not provided [RCV003740374]	uncertain significance	4	44689886	44689886	Human		name
405121645	CV3116623	single nucleotide variant	NM_021927.3(GUF1):c.1753C>G (p.Arg585Gly)	not provided [RCV003814925]	uncertain significance	4	44695652	44695652	Human		name
405112342	CV3118599	single nucleotide variant	NM_021927.3(GUF1):c.1291A>G (p.Thr431Ala)	not provided [RCV003813827]	uncertain significance	4	44689931	44689931	Human		name
405012567	CV3128124	single nucleotide variant	NM_021927.3(GUF1):c.1375C>T (p.Gln459Ter)	not provided [RCV003829004]	uncertain significance	4	44690756	44690756	Human		name
405120752	CV3131516	single nucleotide variant	NM_021927.3(GUF1):c.1483C>T (p.Arg495Ter)	not provided [RCV003837380]	uncertain significance	4	44691669	44691669	Human		name
405147987	CV3141916	single nucleotide variant	NM_021927.3(GUF1):c.1043C>T (p.Pro348Leu)	not provided [RCV003839838]\|not specified [RCV004917889]	uncertain significance	4	44688111	44688111	Human		name
405196053	CV3146525	single nucleotide variant	NM_021927.3(GUF1):c.1086T>G (p.Tyr362Ter)	not provided [RCV003843880]	uncertain significance	4	44689293	44689293	Human		name
405237287	CV3152390	single nucleotide variant	NM_021927.3(GUF1):c.2006A>C (p.Lys669Thr)	not provided [RCV003854105]	uncertain significance	4	44698677	44698677	Human		name
405164077	CV3153245	single nucleotide variant	NM_021927.3(GUF1):c.1483C>G (p.Arg495Gly)	not provided [RCV003840980]	uncertain significance	4	44691669	44691669	Human		name
405235990	CV3166398	single nucleotide variant	NM_021927.3(GUF1):c.1231G>C (p.Glu411Gln)	not provided [RCV003853847]	uncertain significance	4	44689871	44689871	Human		name
405237959	CV3166987	single nucleotide variant	NM_021927.3(GUF1):c.1753C>T (p.Arg585Trp)	not provided [RCV003854242]\|not specified [RCV004634390]	uncertain significance	4	44695652	44695652	Human		name
405084112	CV3167235	single nucleotide variant	NM_021927.3(GUF1):c.1835C>T (p.Thr612Ile)	not provided [RCV003851816]	uncertain significance	4	44695734	44695734	Human		name
405235725	CV3168520	single nucleotide variant	NM_021927.3(GUF1):c.1685C>T (p.Thr562Ile)	not provided [RCV003865994]	uncertain significance	4	44694483	44694483	Human		name
402466932	CV3177809	single nucleotide variant	NM_021927.3(GUF1):c.1646C>T (p.Ala549Val)	not provided [RCV003873247]	uncertain significance	4	44694444	44694444	Human		name
405720227	CV3255742	single nucleotide variant	NM_021927.3(GUF1):c.1288C>G (p.Pro430Ala)	not specified [RCV004388699]	uncertain significance	4	44689928	44689928	Human		name
405720236	CV3255743	single nucleotide variant	NM_021927.3(GUF1):c.1321T>C (p.Ser441Pro)	not provided [RCV005065035]\|not specified [RCV004388700]	uncertain significance	4	44689961	44689961	Human		name
405720252	CV3255745	single nucleotide variant	NM_021927.3(GUF1):c.1717G>A (p.Asp573Asn)	not specified [RCV004388702]	uncertain significance	4	44695616	44695616	Human		name
405720258	CV3255746	single nucleotide variant	NM_021927.3(GUF1):c.1927A>G (p.Lys643Glu)	not provided [RCV005065036]\|not specified [RCV004388703]	uncertain significance	4	44698598	44698598	Human		name
407513377	CV3443674	single nucleotide variant	NM_021927.3(GUF1):c.1181T>C (p.Leu394Pro)	not specified [RCV004627170]	uncertain significance	4	44689388	44689388	Human		name
597757379	CV3685107	single nucleotide variant	NM_021927.3(GUF1):c.1195G>T (p.Gly399Cys)	not specified [RCV004925067]	uncertain significance	4	44689402	44689402	Human		name
597757384	CV3685108	single nucleotide variant	NM_021927.3(GUF1):c.1631C>T (p.Ala544Val)	not provided [RCV005061761]\|not specified [RCV004925068]	uncertain significance	4	44694429	44694429	Human		name
597757393	CV3685110	single nucleotide variant	NM_021927.3(GUF1):c.1067T>C (p.Met356Thr)	not specified [RCV004925070]	uncertain significance	4	44688135	44688135	Human		name
597842774	CV3752399	single nucleotide variant	NM_021927.3(GUF1):c.1843G>A (p.Ala615Thr)	not provided [RCV005086805]	uncertain significance	4	44697415	44697415	Human		name
597874269	CV3766115	single nucleotide variant	NM_021927.3(GUF1):c.1233A>C (p.Glu411Asp)	not provided [RCV005108247]	uncertain significance	4	44689873	44689873	Human		name
597923792	CV3777911	single nucleotide variant	NM_021927.3(GUF1):c.1123G>A (p.Ala375Thr)	not provided [RCV005130635]	uncertain significance	4	44689330	44689330	Human		name
597858026	CV3817012	single nucleotide variant	NM_021927.3(GUF1):c.1727A>G (p.His576Arg)	not provided [RCV005146393]	uncertain significance	4	44695626	44695626	Human		name
597940922	CV3819153	single nucleotide variant	NM_021927.3(GUF1):c.1490C>T (p.Ala497Val)	not provided [RCV005158964]	uncertain significance	4	44691676	44691676	Human		name
597973443	CV3820482	single nucleotide variant	NM_021927.3(GUF1):c.1132A>G (p.Lys378Glu)	not provided [RCV005167999]	uncertain significance	4	44689339	44689339	Human		name
597973863	CV3820728	single nucleotide variant	NM_021927.3(GUF1):c.1559A>C (p.Glu520Ala)	not provided [RCV005168245]	uncertain significance	4	44691745	44691745	Human		name
597893751	CV3833299	single nucleotide variant	NM_021927.3(GUF1):c.1550C>T (p.Pro517Leu)	not provided [RCV005179991]	uncertain significance	4	44691736	44691736	Human		name
597914697	CV3833962	single nucleotide variant	NM_021927.3(GUF1):c.1744A>G (p.Ile582Val)	not provided [RCV005183321]	uncertain significance	4	44695643	44695643	Human		name
597866995	CV3838616	single nucleotide variant	NM_021927.3(GUF1):c.1581C>G (p.Asp527Glu)	not provided [RCV005175912]	uncertain significance	4	44691767	44691767	Human		name
616934008	CV4011984	single nucleotide variant	NM_021927.3(GUF1):c.1411G>T (p.Glu471Ter)	not specified [RCV005408534]	uncertain significance	4	44690792	44690792	Human		name
15133502	CV709372	single nucleotide variant	NM_021927.3(GUF1):c.1507A>G (p.Ile503Val)	GUF1-related disorder [RCV003972840]\|not provided [RCV000964961]	benign	4	44691693	44691693	Human	1	name , trait , alternate_id
15151356	CV720983	single nucleotide variant	NM_021927.3(GUF1):c.1112A>G (p.Asn371Ser)	GUF1-related disorder [RCV003940381]\|not provided [RCV000879578]	benign	4	44689319	44689319	Human	1	name , trait , alternate_id
34895590	CV916926	single nucleotide variant	NM_021927.3(GUF1):c.1432A>G (p.Ile478Val)	not provided [RCV001876247]\|not specified [RCV001192702]	uncertain significance	4	44690813	44690813	Human		name
151775688	CV1427078	deletion	NM_021927.3(GUF1):c.636_637del (p.Lys212fs)	not provided [RCV002009267]	uncertain significance	4	44683285	44683286	Human		name
156368075	CV2007475	microsatellite	NM_021927.3(GUF1):c.534CTT[1] (p.Phe180del)	not provided [RCV002676705]	uncertain significance	4	44682360	44682362	Human		name
151886304	CV1367386	microsatellite	NM_021927.3(GUF1):c.1281AAC[1] (p.Thr429del)	not provided [RCV002000658]	uncertain significance	4	44689921	44689923	Human		name
151880356	CV1475394	microsatellite	NM_021927.3(GUF1):c.2006AAT[1] (p.Ter670Xaa)	not provided [RCV001961574]	uncertain significance	4	44698677	44698679	Human		name
151662321	CV1333027	deletion	NM_021927.3(GUF1):c.1472_1476del (p.Leu491fs)	Developmental and epileptic encephalopathy, 40 [RCV001837259]\|not provided [RCV003728041]	likely pathogenic\|uncertain significance	4	44690850	44690854	Human	1	name
151790760	CV1393140	deletion	NM_021927.3(GUF1):c.1402_1403del (p.Glu468fs)	not provided [RCV001931393]	uncertain significance	4	44690782	44690783	Human		name
151828090	CV1468383	deletion	NM_021927.3(GUF1):c.1109_1128del (p.Asn370fs)	not provided [RCV002030530]	uncertain significance	4	44689312	44689331	Human		name
151864537	CV1498772	deletion	NM_021927.3(GUF1):c.1351_1354del (p.Glu451fs)	not provided [RCV001980552]	uncertain significance	4	44690729	44690732	Human		name
151886617	CV1513883	deletion	NM_021927.3(GUF1):c.1351_1352del (p.Glu451fs)	not provided [RCV001962795]\|not specified [RCV003490957]	uncertain significance	4	44690731	44690732	Human		name
405245873	CV2965568	microsatellite	NM_021927.3(GUF1):c.1512_1515del (p.Phe504fs)	not provided [RCV003685284]	uncertain significance	4	44691694	44691697	Human		name
34895592	CV916925	deletion	NM_021927.3(GUF1):c.1390_1394del (p.Lys465fs)	not provided [RCV001876248]\|not specified [RCV001192703]	uncertain significance	4	44690768	44690772	Human		name
151727235	CV1339880	indel	NM_021927.3(GUF1):c.42_43delinsCT (p.Leu15Phe)	not provided [RCV002004412]	uncertain significance	4	44678664	44678665	Human		name
405281148	CV3223927	indel	NM_021927.3(GUF1):c.682_703delinsTCTAAA (p.Leu228fs)	not specified [RCV003988306]	uncertain significance	4	44685971	44685992	Human		name
151734278	CV1409562	deletion	NM_021927.3(GUF1):c.960_969del (p.Gly319_Tyr320insTer)	not provided [RCV001911200]	uncertain significance	4	44688028	44688037	Human		name
151821946	CV1453684	insertion	NM_021927.3(GUF1):c.1527_1528insTATCATAATTGATCAAAATAGA (p.Val510delinsTyrHisAsnTer)	not provided [RCV001879296]\|not specified [RCV002509713]	uncertain significance	4	44691698	44691699	Human		name

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