Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)	SNV Germline	Chr3:158646896	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA210484	rs_119470018	6 SubmittersRCV000004377 RCV000657878
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter)	SNV Germline	Chr3:158645686	Pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA210485	rs_119470019	5 SubmittersRCV000004378 RCV001207728
NM_024996.7(GFM1):c.1487T>G (p.Met496Arg)	SNV Germline	Chr3:158665443	Pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	No Assertion Criteria Provided	CA210487	rs_119470020	1 SubmittersRCV000004379
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)	SNV Germline	Chr3:158652154	Pathogenic/Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided Combined oxidative phosphorylation deficiency See cases	Criteria Provided Multiple Submitters No Conflicts	CA210569	rs_139430866	9 SubmittersRCV000023564 RCV000800330 RCV000851197 RCV003156063
NM_024996.7(GFM1):c.-38C>T	SNV Germline	Chr3:158644597	Conflicting classifications of pathogenicity	not specified Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 GFM1-related disorder	Criteria Provided Conflicting Classifications	CA291068	rs_377352238	3 SubmittersRCV000125229 RCV000389427 RCV003925243
NM_024996.7(GFM1):c.3G>A (p.Met1Ile)	SNV Germline	Chr3:158644637	Pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter	CA321080	rs_863224030	2 SubmittersRCV000196656 RCV001273487
NM_024996.7(GFM1):c.235-14G>A	SNV Germline	Chr3:158646151	Conflicting classifications of pathogenicity	not specified Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA322880	rs_201304690	3 SubmittersRCV000198372 RCV000307563 RCV002054327
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys)	SNV Germline	Chr3:158649090	Conflicting classifications of pathogenicity	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Conflicting Classifications	CA323024	rs_191462023	5 SubmittersRCV000198516 RCV000764473
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)	SNV Germline	Chr3:158649156	Pathogenic/Likely pathogenic	Condition: not provided GFM1-related disorder Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts	CA324294	rs_774456344	5 SubmittersRCV000199744 RCV003417713 RCV003330568
NM_024996.7(GFM1):c.690-5C>G	SNV Germline	Chr3:158652091	Conflicting classifications of pathogenicity	not specified Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Conflicting Classifications	CA321899	rs_201685981	6 SubmittersRCV000197431 RCV000415998 RCV001001208
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)	SNV Germline	Chr3:158652106	Pathogenic/Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts	CA323089	rs_863224032	4 SubmittersRCV000198570 RCV000995549
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)	SNV Germline	Chr3:158690264	Pathogenic/Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts	CA321516	rs_201408725	8 SubmittersRCV000197077 RCV000763507
NM_024996.7(GFM1):c.373G>A (p.Val125Met)	SNV Germline	Chr3:158646748	Conflicting classifications of pathogenicity	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2682322	rs_200923387	3 SubmittersRCV000362292 RCV000942298
NM_024996.7(GFM1):c.1324-15T>A	SNV Germline	Chr3:158662613	Conflicting classifications of pathogenicity	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA2682612	rs_375168014	3 SubmittersRCV000286924 RCV000424127 RCV002057852
NM_024996.7(GFM1):c.897C>T (p.Ser299=)	SNV Germline	Chr3:158653366	Conflicting classifications of pathogenicity	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2682451	rs_763546447	2 SubmittersRCV000280136 RCV001453939
NM_024996.7(GFM1):c.56C>T (p.Ala19Val)	SNV Germline	Chr3:158644690	Conflicting classifications of pathogenicity	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided GFM1-related disorder	Criteria Provided Conflicting Classifications	CA2682193	rs_567086019	5 SubmittersRCV000337390 RCV000943185 RCV003950210
NM_024996.7(GFM1):c.234+12C>T	SNV Germline	Chr3:158645793	Conflicting classifications of pathogenicity	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2682258	rs_372189223	2 SubmittersRCV000398325 RCV002057851
NM_024996.7(GFM1):c.1083+3A>G	SNV Germline	Chr3:158654634	Conflicting classifications of pathogenicity	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2682500	rs_187690169	4 SubmittersRCV000341073 RCV001636960 RCV002523249
NM_024996.7(GFM1):c.1831C>T (p.Leu611=)	SNV Germline	Chr3:158684590	Conflicting classifications of pathogenicity	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2683004	rs_190393538	3 SubmittersRCV000312996 RCV001521349
NM_024996.7(GFM1):c.987C>A (p.Leu329=)	SNV Germline	Chr3:158653456	Conflicting classifications of pathogenicity	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2682465	rs_531887279	2 SubmittersRCV000376033 RCV000933080
NM_024996.7(GFM1):c.1032C>T (p.Asn344=)	SNV Germline	Chr3:158654580	Conflicting classifications of pathogenicity	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA2682491	rs_373952002	6 SubmittersRCV000281525 RCV000429176 RCV000952513
NM_024996.7(GFM1):c.2190C>T (p.Asp730=)	SNV Germline	Chr3:158691401	Conflicting classifications of pathogenicity	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2683128	rs_149049400	4 SubmittersRCV000275898 RCV000913641
NM_024996.7(GFM1):c.1494A>G (p.Glu498=)	SNV Germline	Chr3:158665450	Conflicting classifications of pathogenicity	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Conflicting Classifications	CA2682670	rs_149454742	3 SubmittersRCV000897890 RCV001148119
NM_024996.7(GFM1):c.689+908G>A	SNV Germline	Chr3:158650065	Pathogenic/Likely pathogenic	Combined oxidative phosphorylation deficiency Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts	CA2682393	rs_751069628	4 SubmittersRCV000851196 RCV001377165 RCV003465353
NM_024996.7(GFM1):c.395A>C (p.Glu132Ala)	SNV Germline	Chr3:158646770	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter	CA355175789	rs_1553847587	1 SubmittersRCV000625929
NM_024996.7(GFM1):c.193C>A (p.Arg65=)	SNV Germline	Chr3:158645740	Conflicting classifications of pathogenicity	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Conflicting Classifications		rs_62286651	4 SubmittersRCV000676467 RCV001148014
NM_024996.7(GFM1):c.1910-1G>A	SNV Germline	Chr3:158690162	Conflicting classifications of pathogenicity	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Conflicting Classifications		rs_1462851267	2 SubmittersRCV000779396
NM_022915.5(MRPL44):c.800T>A (p.Leu267Ter)	SNV Unknown	Chr2:223963907	Pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter		rs_1574796091	1 SubmittersRCV000791065
NM_024996.7(GFM1):c.193C>T (p.Arg65Ter)	SNV Germline	Chr3:158645740	Pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_62286651	2 SubmittersRCV000798054 RCV003467367
NM_024996.7(GFM1):c.667A>G (p.Ile223Val)	SNV Germline	Chr3:158649135	Conflicting classifications of pathogenicity	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 GFM1-related disorder	Criteria Provided Conflicting Classifications		rs_143446452	4 SubmittersRCV000918367 RCV001272459 RCV003960371
NM_024996.7(GFM1):c.1305C>G (p.Ala435=)	SNV Germline	Chr3:158660957	Conflicting classifications of pathogenicity	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Conflicting Classifications		rs_141368418	3 SubmittersRCV000941272 RCV001147221
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp)	SNV Germline	Chr3:158684581	Conflicting classifications of pathogenicity	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_762576741	4 SubmittersRCV000987349 RCV002550600
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)	SNV Germline	Chr3:158645647	Pathogenic/Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_766234016	4 SubmittersRCV001002683 RCV002549188
NM_024996.7(GFM1):c.248A>T (p.Asp83Val)	SNV Germline	Chr3:158646178	Pathogenic/Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1576721522	2 SubmittersRCV001002680 RCV003769390
NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg)	SNV Germline	Chr3:158666331	Pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter		rs_1576757241	1 SubmittersRCV001002682
NM_024996.7(GFM1):c.1571C>T (p.Ala524Val)	SNV Germline	Chr3:158666356	Pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter		rs_143031224	1 SubmittersRCV001002684
NM_024996.7(GFM1):c.661C>T (p.Arg221Ter)	SNV Germline	Chr3:158649129	Pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_780762234	2 SubmittersRCV001067025 RCV003462600
NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter)	SNV Germline	Chr3:158690261	Pathogenic/Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1402362655	4 SubmittersRCV001067859 RCV003387961
NM_024996.7(GFM1):c.952C>T (p.Pro318Ser)	SNV Germline	Chr3:158653421	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter		rs_1722463582	1 SubmittersRCV001089485
NM_024996.7(GFM1):c.324C>A (p.Tyr108Ter)	SNV Germline	Chr3:158646254	Pathogenic/Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1391874523	2 SubmittersRCV001204850 RCV004570433
NM_024996.7(GFM1):c.1601+1G>A	SNV Germline	Chr3:158666387	Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_748116978	2 SubmittersRCV001210116 RCV003462703
NM_024996.7(GFM1):c.1221+20G>A	SNV Germline	Chr3:158659079	Conflicting classifications of pathogenicity	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1412836196	2 SubmittersRCV001329385 RCV003727981
NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter)	SNV Unknown	Chr3:158662628	Pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter		rs_757691557	1 SubmittersRCV001329386
NM_024996.7(GFM1):c.81+1G>A	SNV Germline	Chr3:158644716	Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1262218849	3 SubmittersRCV001378369 RCV001831352
NM_024996.7(GFM1):c.573-1G>C	SNV Germline	Chr3:158649040	Conflicting classifications of pathogenicity	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Conflicting Classifications		rs_2108009356	5 SubmittersRCV001379654 RCV001831371
NM_024996.7(GFM1):c.999-1G>A	SNV Germline	Chr3:158654546	Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_757524798	3 SubmittersRCV001377804 RCV001836383
NM_024996.7(GFM1):c.1910-2A>T	SNV Germline	Chr3:158690161	Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_867885977	3 SubmittersRCV001377756 RCV001826130
NM_024996.7(GFM1):c.1090C>T (p.Arg364Ter)	SNV Germline	Chr3:158658928	Pathogenic/Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_775919783	2 SubmittersRCV001389333 RCV003463027
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter)	SNV Germline	Chr3:158666361	Pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1004779078	3 SubmittersRCV001381644 RCV001831380
NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln)	SNV Germline	Chr3:158684582	Pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided	Criteria Provided Single Submitter		rs_541171482	2 SubmittersRCV001449604 RCV001865913
NM_024996.7(GFM1):c.409G>A (p.Val137Met)	SNV Germline	Chr3:158646784	Pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	No Assertion Criteria Provided		rs_767325554	1 SubmittersRCV001449659
NM_024996.7(GFM1):c.1383C>T (p.Asn461=)	SNV Germline	Chr3:158665339	Conflicting classifications of pathogenicity	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Conflicting Classifications		rs_774976760	2 SubmittersRCV001480040 RCV001563842
NM_024996.7(GFM1):c.344A>G (p.Asn115Ser)	SNV Germline	Chr3:158646274	Conflicting classifications of pathogenicity	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_779253646	3 SubmittersRCV001563841 RCV002072149 RCV002568428
NM_024996.7(GFM1):c.2143A>G (p.Met715Val)	SNV Germline	Chr3:158691354	Conflicting classifications of pathogenicity	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Conflicting Classifications		rs_147620098	3 SubmittersRCV001665161 RCV001827557
NM_024996.7(GFM1):c.1764+2T>C	SNV Germline	Chr3:158682159	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter		rs_1725442904	1 SubmittersRCV003989093
NM_024996.7(GFM1):c.69G>A (p.Trp23Ter)	SNV Germline	Chr3:158644703	Pathogenic/Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_763344414	2 SubmittersRCV001941657 RCV003464295
NM_024996.7(GFM1):c.689+1G>A	SNV Germline	Chr3:158649158	Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1449057162	2 SubmittersRCV002029942 RCV003464159
NM_024996.7(GFM1):c.850C>T (p.Arg284Ter)	SNV Germline	Chr3:158653319	Pathogenic/Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_771890880	2 SubmittersRCV002000204 RCV003471142
NM_024996.7(GFM1):c.1882C>T (p.Arg628Ter)	SNV Germline	Chr3:158684641	Pathogenic/Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_889180452	2 SubmittersRCV002000104 RCV003471141
NM_024996.7(GFM1):c.532C>T (p.Arg178Ter)	SNV Germline	Chr3:158646907	Pathogenic/Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1721865059	2 SubmittersRCV001942340 RCV003464305
NM_024996.7(GFM1):c.1765-2A>G	SNV Germline	Chr3:158684522	Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_2108102423	2 SubmittersRCV001973042 RCV003471216
NM_024996.7(GFM1):c.1642C>T (p.Gln548Ter)	SNV Germline	Chr3:158682035	Pathogenic/Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1214047183	2 SubmittersRCV001951507 RCV004571752
NM_024996.7(GFM1):c.1186C>T (p.Gln396Ter)	SNV Germline	Chr3:158659024	Pathogenic/Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1332636394	2 SubmittersRCV001963289 RCV003464329
NM_024996.7(GFM1):c.2167T>C (p.Cys723Arg)	SNV Germline	Chr3:158691378	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV003233002
NM_024996.7(GFM1):c.1380+2T>G	SNV Germline	Chr3:158662686	Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003063372 RCV003459734
NM_024996.7(GFM1):c.368-2A>G	SNV Germline	Chr3:158646741	Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003065787 RCV003465945
NM_024996.7(GFM1):c.1516C>T (p.Gln506Ter)	SNV Unknown	Chr3:158665472	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV003461687
NM_024996.7(GFM1):c.367+1G>A	SNV Unknown	Chr3:158646298	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV003461688
NM_024996.7(GFM1):c.787C>T (p.Gln263Ter)	SNV Germline	Chr3:158652193	Pathogenic/Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003468267 RCV003699108
NM_024996.7(GFM1):c.1909+2T>A	SNV Unknown	Chr3:158684670	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV003461691
NM_024996.7(GFM1):c.705T>G (p.Tyr235Ter)	SNV Unknown	Chr3:158652111	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV003461692
NM_024996.7(GFM1):c.1193T>C (p.Leu398Pro)	SNV Unknown	Chr3:158659031	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV003468269
NM_024996.7(GFM1):c.573-2A>G	SNV Unknown	Chr3:158649039	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV003461694
NM_024996.7(GFM1):c.368-2A>C	SNV Unknown	Chr3:158646741	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV003468271
NM_024996.7(GFM1):c.929T>G (p.Leu310Ter)	SNV Unknown	Chr3:158653398	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV003461699
NM_024996.7(GFM1):c.1381-1G>C	SNV Unknown	Chr3:158665336	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV003468272
NM_024996.7(GFM1):c.999-1G>C	SNV Unknown	Chr3:158654546	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV003468275
NM_024996.7(GFM1):c.725T>G (p.Leu242Ter)	SNV Germline	Chr3:158652131	Pathogenic/Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003461702 RCV003661061
NM_024996.7(GFM1):c.527T>A (p.Leu176Ter)	SNV Unknown	Chr3:158646902	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV003461704
NM_024996.7(GFM1):c.689+2T>C	SNV Unknown	Chr3:158649159	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV003468277
NM_024996.7(GFM1):c.324C>G (p.Tyr108Ter)	SNV Unknown	Chr3:158646254	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV003461706
NM_024996.7(GFM1):c.1981C>T (p.Gln661Ter)	SNV Unknown	Chr3:158690234	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV003468280
NM_024996.7(GFM1):c.2070+1G>A	SNV Germline	Chr3:158690324	Likely pathogenic	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003558302 RCV004574120
NM_024996.7(GFM1):c.1548T>A (p.Cys516Ter)	SNV Unknown	Chr3:158666333	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV004576681
NM_024996.7(GFM1):c.2097T>G (p.Tyr699Ter)	SNV Unknown	Chr3:158691165	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV004576683
NM_024996.7(GFM1):c.1083+1G>C	SNV Unknown	Chr3:158654632	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV004576684
NM_024996.7(GFM1):c.2125-1G>A	SNV Unknown	Chr3:158691335	Likely pathogenic	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Criteria Provided Single Submitter			1 SubmittersRCV004576685

NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)

SNV
Germline

Chr3:158646896

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210484

rs_119470018

6 SubmittersRCV000004377 RCV000657878

NM_024996.7(GFM1):c.139C>T (p.Arg47Ter)

SNV
Germline

Chr3:158645686

Pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210485

rs_119470019

5 SubmittersRCV000004378 RCV001207728

NM_024996.7(GFM1):c.1487T>G (p.Met496Arg)

SNV
Germline

Chr3:158665443

Pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

No Assertion Criteria Provided

CA210487

rs_119470020

1 SubmittersRCV000004379

NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)

SNV
Germline

Chr3:158652154

Pathogenic/Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Combined oxidative phosphorylation deficiency
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA210569

rs_139430866

9 SubmittersRCV000023564 RCV000800330 RCV000851197 RCV003156063

NM_024996.7(GFM1):c.-38C>T

SNV
Germline

Chr3:158644597

Conflicting classifications of pathogenicity

not specified
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GFM1-related disorder

Criteria Provided
Conflicting Classifications

CA291068

rs_377352238

3 SubmittersRCV000125229 RCV000389427 RCV003925243

NM_024996.7(GFM1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr3:158644637

Pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

CA321080

rs_863224030

2 SubmittersRCV000196656 RCV001273487

NM_024996.7(GFM1):c.235-14G>A

SNV
Germline

Chr3:158646151

Conflicting classifications of pathogenicity

not specified
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA322880

rs_201304690

3 SubmittersRCV000198372 RCV000307563 RCV002054327

NM_024996.7(GFM1):c.622G>A (p.Glu208Lys)

SNV
Germline

Chr3:158649090

Conflicting classifications of pathogenicity

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Conflicting Classifications

CA323024

rs_191462023

5 SubmittersRCV000198516 RCV000764473

NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)

SNV
Germline

Chr3:158649156

Pathogenic/Likely pathogenic

Condition: not provided
GFM1-related disorder
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA324294

rs_774456344

5 SubmittersRCV000199744 RCV003417713 RCV003330568

NM_024996.7(GFM1):c.690-5C>G

SNV
Germline

Chr3:158652091

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Conflicting Classifications

CA321899

rs_201685981

6 SubmittersRCV000197431 RCV000415998 RCV001001208

NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)

SNV
Germline

Chr3:158652106

Pathogenic/Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA323089

rs_863224032

4 SubmittersRCV000198570 RCV000995549

NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)

SNV
Germline

Chr3:158690264

Pathogenic/Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA321516

rs_201408725

8 SubmittersRCV000197077 RCV000763507

NM_024996.7(GFM1):c.373G>A (p.Val125Met)

SNV
Germline

Chr3:158646748

Conflicting classifications of pathogenicity

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2682322

rs_200923387

3 SubmittersRCV000362292 RCV000942298

NM_024996.7(GFM1):c.1324-15T>A

SNV
Germline

Chr3:158662613

Conflicting classifications of pathogenicity

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2682612

rs_375168014

3 SubmittersRCV000286924 RCV000424127 RCV002057852

NM_024996.7(GFM1):c.897C>T (p.Ser299=)

SNV
Germline

Chr3:158653366

Conflicting classifications of pathogenicity

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2682451

rs_763546447

2 SubmittersRCV000280136 RCV001453939

NM_024996.7(GFM1):c.56C>T (p.Ala19Val)

SNV
Germline

Chr3:158644690

Conflicting classifications of pathogenicity

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
GFM1-related disorder

Criteria Provided
Conflicting Classifications

CA2682193

rs_567086019

5 SubmittersRCV000337390 RCV000943185 RCV003950210

NM_024996.7(GFM1):c.234+12C>T

SNV
Germline

Chr3:158645793

Conflicting classifications of pathogenicity

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2682258

rs_372189223

2 SubmittersRCV000398325 RCV002057851

NM_024996.7(GFM1):c.1083+3A>G

SNV
Germline

Chr3:158654634

Conflicting classifications of pathogenicity

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2682500

rs_187690169

4 SubmittersRCV000341073 RCV001636960 RCV002523249

NM_024996.7(GFM1):c.1831C>T (p.Leu611=)

SNV
Germline

Chr3:158684590

Conflicting classifications of pathogenicity

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2683004

rs_190393538

3 SubmittersRCV000312996 RCV001521349

NM_024996.7(GFM1):c.987C>A (p.Leu329=)

SNV
Germline

Chr3:158653456

Conflicting classifications of pathogenicity

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2682465

rs_531887279

2 SubmittersRCV000376033 RCV000933080

NM_024996.7(GFM1):c.1032C>T (p.Asn344=)

SNV
Germline

Chr3:158654580

Conflicting classifications of pathogenicity

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2682491

rs_373952002

6 SubmittersRCV000281525 RCV000429176 RCV000952513

NM_024996.7(GFM1):c.2190C>T (p.Asp730=)

SNV
Germline

Chr3:158691401

Conflicting classifications of pathogenicity

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2683128

rs_149049400

4 SubmittersRCV000275898 RCV000913641

NM_024996.7(GFM1):c.1494A>G (p.Glu498=)

SNV
Germline

Chr3:158665450

Conflicting classifications of pathogenicity

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Conflicting Classifications

CA2682670

rs_149454742

3 SubmittersRCV000897890 RCV001148119

NM_024996.7(GFM1):c.689+908G>A

SNV
Germline

Chr3:158650065

Pathogenic/Likely pathogenic

Combined oxidative phosphorylation deficiency
Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2682393

rs_751069628

4 SubmittersRCV000851196 RCV001377165 RCV003465353

NM_024996.7(GFM1):c.395A>C (p.Glu132Ala)

SNV
Germline

Chr3:158646770

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

CA355175789

rs_1553847587

1 SubmittersRCV000625929

NM_024996.7(GFM1):c.193C>A (p.Arg65=)

SNV
Germline

Chr3:158645740

Conflicting classifications of pathogenicity

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Conflicting Classifications

rs_62286651

4 SubmittersRCV000676467 RCV001148014

NM_024996.7(GFM1):c.1910-1G>A

SNV
Germline

Chr3:158690162

Conflicting classifications of pathogenicity

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Conflicting Classifications

rs_1462851267

2 SubmittersRCV000779396

NM_022915.5(MRPL44):c.800T>A (p.Leu267Ter)

SNV
Unknown

Chr2:223963907

Pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

rs_1574796091

1 SubmittersRCV000791065

NM_024996.7(GFM1):c.193C>T (p.Arg65Ter)

SNV
Germline

Chr3:158645740

Pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_62286651

2 SubmittersRCV000798054 RCV003467367

NM_024996.7(GFM1):c.667A>G (p.Ile223Val)

SNV
Germline

Chr3:158649135

Conflicting classifications of pathogenicity

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GFM1-related disorder

Criteria Provided
Conflicting Classifications

rs_143446452

4 SubmittersRCV000918367 RCV001272459 RCV003960371

NM_024996.7(GFM1):c.1305C>G (p.Ala435=)

SNV
Germline

Chr3:158660957

Conflicting classifications of pathogenicity

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Conflicting Classifications

rs_141368418

3 SubmittersRCV000941272 RCV001147221

NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp)

SNV
Germline

Chr3:158684581

Conflicting classifications of pathogenicity

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_762576741

4 SubmittersRCV000987349 RCV002550600

NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)

SNV
Germline

Chr3:158645647

Pathogenic/Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_766234016

4 SubmittersRCV001002683 RCV002549188

NM_024996.7(GFM1):c.248A>T (p.Asp83Val)

SNV
Germline

Chr3:158646178

Pathogenic/Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1576721522

2 SubmittersRCV001002680 RCV003769390

NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg)

SNV
Germline

Chr3:158666331

Pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

rs_1576757241

1 SubmittersRCV001002682

NM_024996.7(GFM1):c.1571C>T (p.Ala524Val)

SNV
Germline

Chr3:158666356

Pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

rs_143031224

1 SubmittersRCV001002684

NM_024996.7(GFM1):c.661C>T (p.Arg221Ter)

SNV
Germline

Chr3:158649129

Pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_780762234

2 SubmittersRCV001067025 RCV003462600

NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter)

SNV
Germline

Chr3:158690261

Pathogenic/Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1402362655

4 SubmittersRCV001067859 RCV003387961

NM_024996.7(GFM1):c.952C>T (p.Pro318Ser)

SNV
Germline

Chr3:158653421

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

rs_1722463582

1 SubmittersRCV001089485

NM_024996.7(GFM1):c.324C>A (p.Tyr108Ter)

SNV
Germline

Chr3:158646254

Pathogenic/Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1391874523

2 SubmittersRCV001204850 RCV004570433

NM_024996.7(GFM1):c.1601+1G>A

SNV
Germline

Chr3:158666387

Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_748116978

2 SubmittersRCV001210116 RCV003462703

NM_024996.7(GFM1):c.1221+20G>A

SNV
Germline

Chr3:158659079

Conflicting classifications of pathogenicity

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1412836196

2 SubmittersRCV001329385 RCV003727981

NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter)

SNV
Unknown

Chr3:158662628

Pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

rs_757691557

1 SubmittersRCV001329386

NM_024996.7(GFM1):c.81+1G>A

SNV
Germline

Chr3:158644716

Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1262218849

3 SubmittersRCV001378369 RCV001831352

NM_024996.7(GFM1):c.573-1G>C

SNV
Germline

Chr3:158649040

Conflicting classifications of pathogenicity

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Conflicting Classifications

rs_2108009356

5 SubmittersRCV001379654 RCV001831371

NM_024996.7(GFM1):c.999-1G>A

SNV
Germline

Chr3:158654546

Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_757524798

3 SubmittersRCV001377804 RCV001836383

NM_024996.7(GFM1):c.1910-2A>T

SNV
Germline

Chr3:158690161

Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_867885977

3 SubmittersRCV001377756 RCV001826130

NM_024996.7(GFM1):c.1090C>T (p.Arg364Ter)

SNV
Germline

Chr3:158658928

Pathogenic/Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_775919783

2 SubmittersRCV001389333 RCV003463027

NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter)

SNV
Germline

Chr3:158666361

Pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1004779078

3 SubmittersRCV001381644 RCV001831380

NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln)

SNV
Germline

Chr3:158684582

Pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided

Criteria Provided
Single Submitter

rs_541171482

2 SubmittersRCV001449604 RCV001865913

NM_024996.7(GFM1):c.409G>A (p.Val137Met)

SNV
Germline

Chr3:158646784

Pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

No Assertion Criteria Provided

rs_767325554

1 SubmittersRCV001449659

NM_024996.7(GFM1):c.1383C>T (p.Asn461=)

SNV
Germline

Chr3:158665339

Conflicting classifications of pathogenicity

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Conflicting Classifications

rs_774976760

2 SubmittersRCV001480040 RCV001563842

NM_024996.7(GFM1):c.344A>G (p.Asn115Ser)

SNV
Germline

Chr3:158646274

Conflicting classifications of pathogenicity

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_779253646

3 SubmittersRCV001563841 RCV002072149 RCV002568428

NM_024996.7(GFM1):c.2143A>G (p.Met715Val)

SNV
Germline

Chr3:158691354

Conflicting classifications of pathogenicity

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Conflicting Classifications

rs_147620098

3 SubmittersRCV001665161 RCV001827557

NM_024996.7(GFM1):c.1764+2T>C

SNV
Germline

Chr3:158682159

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

rs_1725442904

1 SubmittersRCV003989093

NM_024996.7(GFM1):c.69G>A (p.Trp23Ter)

SNV
Germline

Chr3:158644703

Pathogenic/Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_763344414

2 SubmittersRCV001941657 RCV003464295

NM_024996.7(GFM1):c.689+1G>A

SNV
Germline

Chr3:158649158

Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1449057162

2 SubmittersRCV002029942 RCV003464159

NM_024996.7(GFM1):c.850C>T (p.Arg284Ter)

SNV
Germline

Chr3:158653319

Pathogenic/Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_771890880

2 SubmittersRCV002000204 RCV003471142

NM_024996.7(GFM1):c.1882C>T (p.Arg628Ter)

SNV
Germline

Chr3:158684641

Pathogenic/Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_889180452

2 SubmittersRCV002000104 RCV003471141

NM_024996.7(GFM1):c.532C>T (p.Arg178Ter)

SNV
Germline

Chr3:158646907

Pathogenic/Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1721865059

2 SubmittersRCV001942340 RCV003464305

NM_024996.7(GFM1):c.1765-2A>G

SNV
Germline

Chr3:158684522

Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2108102423

2 SubmittersRCV001973042 RCV003471216

NM_024996.7(GFM1):c.1642C>T (p.Gln548Ter)

SNV
Germline

Chr3:158682035

Pathogenic/Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1214047183

2 SubmittersRCV001951507 RCV004571752

NM_024996.7(GFM1):c.1186C>T (p.Gln396Ter)

SNV
Germline

Chr3:158659024

Pathogenic/Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1332636394

2 SubmittersRCV001963289 RCV003464329

NM_024996.7(GFM1):c.2167T>C (p.Cys723Arg)

SNV
Germline

Chr3:158691378

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003233002

NM_024996.7(GFM1):c.1380+2T>G

SNV
Germline

Chr3:158662686

Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003063372 RCV003459734

NM_024996.7(GFM1):c.368-2A>G

SNV
Germline

Chr3:158646741

Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003065787 RCV003465945

NM_024996.7(GFM1):c.1516C>T (p.Gln506Ter)

SNV
Unknown

Chr3:158665472

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003461687

NM_024996.7(GFM1):c.367+1G>A

SNV
Unknown

Chr3:158646298

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003461688

NM_024996.7(GFM1):c.787C>T (p.Gln263Ter)

SNV
Germline

Chr3:158652193

Pathogenic/Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003468267 RCV003699108

NM_024996.7(GFM1):c.1909+2T>A

SNV
Unknown

Chr3:158684670

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003461691

NM_024996.7(GFM1):c.705T>G (p.Tyr235Ter)

SNV
Unknown

Chr3:158652111

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003461692

NM_024996.7(GFM1):c.1193T>C (p.Leu398Pro)

SNV
Unknown

Chr3:158659031

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003468269

NM_024996.7(GFM1):c.573-2A>G

SNV
Unknown

Chr3:158649039

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003461694

NM_024996.7(GFM1):c.368-2A>C

SNV
Unknown

Chr3:158646741

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003468271

NM_024996.7(GFM1):c.929T>G (p.Leu310Ter)

SNV
Unknown

Chr3:158653398

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003461699

NM_024996.7(GFM1):c.1381-1G>C

SNV
Unknown

Chr3:158665336

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003468272

NM_024996.7(GFM1):c.999-1G>C

SNV
Unknown

Chr3:158654546

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003468275

NM_024996.7(GFM1):c.725T>G (p.Leu242Ter)

SNV
Germline

Chr3:158652131

Pathogenic/Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003461702 RCV003661061

NM_024996.7(GFM1):c.527T>A (p.Leu176Ter)

SNV
Unknown

Chr3:158646902

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003461704

NM_024996.7(GFM1):c.689+2T>C

SNV
Unknown

Chr3:158649159

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003468277

NM_024996.7(GFM1):c.324C>G (p.Tyr108Ter)

SNV
Unknown

Chr3:158646254

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003461706

NM_024996.7(GFM1):c.1981C>T (p.Gln661Ter)

SNV
Unknown

Chr3:158690234

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003468280

NM_024996.7(GFM1):c.2070+1G>A

SNV
Germline

Chr3:158690324

Likely pathogenic

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003558302 RCV004574120

NM_024996.7(GFM1):c.1548T>A (p.Cys516Ter)

SNV
Unknown

Chr3:158666333

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004576681

NM_024996.7(GFM1):c.2097T>G (p.Tyr699Ter)

SNV
Unknown

Chr3:158691165

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004576683

NM_024996.7(GFM1):c.1083+1G>C

SNV
Unknown

Chr3:158654632

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004576684

NM_024996.7(GFM1):c.2125-1G>A

SNV
Unknown

Chr3:158691335

Likely pathogenic

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004576685