Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter)	SNV Germline	Chr6:98875562	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA144883	rs_398123059	5 SubmittersRCV000056327 RCV001090674
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)	SNV Germline	Chr6:98899282	Pathogenic	Mitochondrial DNA depletion syndrome 13 Mitochondrial DNA depletion syndrome Inborn genetic diseases Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA144886	rs_201889294	12 SubmittersRCV000056328 RCV000604628 RCV000622490 RCV001837446 RCV005237491
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala)	SNV Germline	Chr6:98874441	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Developmental and epileptic encephalopathy, 85, with or without midline brain defects	Criteria Provided Multiple Submitters No Conflicts	CA144889	rs_398123060	5 SubmittersRCV000056329 RCV005861040
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)	SNV Germline	Chr6:98875673	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Mitochondrial encephalomyopathy Global developmental delay Condition: not provided Leigh syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA144891	rs_398123061	13 SubmittersRCV000056330 RCV000162170 RCV000224233 RCV003155062 RCV003242974
NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly)	SNV Germline	Chr6:98875423	Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA144893	rs_398123062	3 SubmittersRCV000056331 RCV005089466
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)	SNV Germline	Chr6:98926925	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided Inborn genetic diseases Neurodevelopmental delay	Criteria Provided Multiple Submitters No Conflicts	CA250339	rs_200440128	14 SubmittersRCV000191084 RCV000578719 RCV001267292 RCV002273980
NM_001278716.2(FBXL4):c.1442T>C (p.Leu481Pro)	SNV Germline	Chr6:98875675	Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3933439	rs_772037717	3 SubmittersRCV000223958 RCV001570260
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala)	SNV Germline	Chr6:98926570	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16020684	rs_1057519447	6 SubmittersRCV000416414 RCV002521494
NM_001278716.2(FBXL4):c.351G>A (p.Thr117=)	SNV Germline	Chr6:98926638	Conflicting classifications of pathogenicity	not specified Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933704	rs_375173811	3 SubmittersRCV000442612 RCV000504348 RCV001462606
NM_001278716.2(FBXL4):c.1353A>G (p.Ser451=)	SNV Germline	Chr6:98880589	Conflicting classifications of pathogenicity	not specified Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933468	rs_141165629	3 SubmittersRCV000440338 RCV000504299 RCV006462794
NM_001278716.2(FBXL4):c.1317+14A>G	SNV Germline	Chr6:98899254	Conflicting classifications of pathogenicity	not specified Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933486	rs_182139048	3 SubmittersRCV000426610 RCV000501519 RCV002058943
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln)	SNV Germline	Chr6:98899281	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial DNA depletion syndrome 13 Inborn genetic diseases Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA3933489	rs_754142863	5 SubmittersRCV000493951 RCV000501572 RCV000623300 RCV004782406
NM_001278716.2(FBXL4):c.*9A>G	SNV Germline	Chr6:98874269	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933330	rs_185850413	3 SubmittersRCV000501110 RCV001555610
NM_001278716.2(FBXL4):c.1838T>A (p.Val613Glu)	SNV Germline	Chr6:98874306	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16020678	rs_1554215766	1 SubmittersRCV000504289
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro)	SNV Germline	Chr6:98874354	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3933338	rs_201989042	6 SubmittersRCV000502841 RCV000657861 RCV004525949
NM_001278716.2(FBXL4):c.1788G>A (p.Ser596=)	SNV Germline	Chr6:98874356	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933339	rs_745713189	2 SubmittersRCV000503469 RCV002524395
NM_001278716.2(FBXL4):c.1772A>G (p.Asp591Gly)	SNV Germline	Chr6:98874372	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021023	rs_747618415	1 SubmittersRCV000500771
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala)	SNV Germline	Chr6:98874372	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13	Criteria Provided Conflicting Classifications	CA3933345	rs_747618415	2 SubmittersRCV000503844
NM_001278716.2(FBXL4):c.1764T>G (p.Ser588=)	SNV Germline	Chr6:98874380	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933346	rs_770326964	2 SubmittersRCV000501464 RCV003565431
NM_001278716.2(FBXL4):c.1750T>C (p.Cys584Arg)	SNV Germline	Chr6:98874394	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021022	rs_1554215804	1 SubmittersRCV000504456
NM_001278716.2(FBXL4):c.1729T>C (p.Leu577=)	SNV Germline	Chr6:98874415	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933354	rs_756228059	2 SubmittersRCV000502173 RCV005056096
NM_001278716.2(FBXL4):c.1723G>T (p.Ala575Ser)	SNV Germline	Chr6:98874421	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933355	rs_200435702	2 SubmittersRCV000501068 RCV001402425
NM_001278716.2(FBXL4):c.1722G>A (p.Pro574=)	SNV Germline	Chr6:98874422	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933357	rs_373647205	2 SubmittersRCV000502068 RCV006556126
NM_001278716.2(FBXL4):c.1703-14T>C	SNV Germline	Chr6:98874455	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933368	rs_773834428	2 SubmittersRCV000501808 RCV002524391
NM_001278716.2(FBXL4):c.1702+18A>G	SNV Germline	Chr6:98875397	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933399	rs_776605924	2 SubmittersRCV000500661 RCV002524390
NM_001278716.2(FBXL4):c.1702+11A>T	SNV Germline	Chr6:98875404	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933400	rs_369407577	2 SubmittersRCV000503437 RCV003574780
NM_001278716.2(FBXL4):c.1699T>C (p.Leu567=)	SNV Germline	Chr6:98875418	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933403	rs_183776114	2 SubmittersRCV000502633 RCV002060161
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met)	SNV Germline	Chr6:98875419	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA16020683	rs_1554215959	3 SubmittersRCV000500228
NM_001278716.2(FBXL4):c.1689G>A (p.Gln563=)	SNV Germline	Chr6:98875428	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933404	rs_767302112	2 SubmittersRCV000501544 RCV005091123
NM_001278716.2(FBXL4):c.1687C>T (p.Gln563Ter)	SNV Germline	Chr6:98875430	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16020676	rs_1554215964	1 SubmittersRCV000501548
NM_001278716.2(FBXL4):c.1656T>C (p.Asp552=)	SNV Germline	Chr6:98875461	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933410	rs_779344587	3 SubmittersRCV000501277 RCV002060160
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn)	SNV Germline	Chr6:98875465	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13	Criteria Provided Conflicting Classifications	CA16021021	rs_1554215979	2 SubmittersRCV000502490
NM_001278716.2(FBXL4):c.1622C>T (p.Thr541Ile)	SNV Germline	Chr6:98875495	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 not specified	Criteria Provided Conflicting Classifications	CA16020675	rs_1391578014	2 SubmittersRCV000500362 RCV003155218
NM_001278716.2(FBXL4):c.1586C>A (p.Ala529Glu)	SNV Germline	Chr6:98875531	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 not specified	Criteria Provided Conflicting Classifications	CA365086857	rs_1443104983	2 SubmittersRCV000503405 RCV005418173
NM_001278716.2(FBXL4):c.1569G>C (p.Gly523=)	SNV Germline	Chr6:98875548	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933420	rs_11537982	2 SubmittersRCV000500232 RCV006463172
NM_001278716.2(FBXL4):c.1566C>T (p.Thr522=)	SNV Germline	Chr6:98875551	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933422	rs_149704398	3 SubmittersRCV000501894 RCV000827600
NM_001278716.2(FBXL4):c.1540T>G (p.Trp514Gly)	SNV Germline	Chr6:98875577	Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16021070	rs_1411907961	3 SubmittersRCV000501986 RCV003237885
NM_001278716.2(FBXL4):c.1518A>G (p.Leu506=)	SNV Germline	Chr6:98875599	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933431	rs_556881504	2 SubmittersRCV000503257 RCV003766864
NM_001278716.2(FBXL4):c.1464A>G (p.Arg488=)	SNV Germline	Chr6:98875653	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided FBXL4-related disorder	Criteria Provided Conflicting Classifications	CA3933436	rs_748404878	4 SubmittersRCV000500701 RCV003311830 RCV003925499
NM_001278716.2(FBXL4):c.1449C>G (p.Thr483=)	SNV Germline	Chr6:98875668	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933437	rs_144468932	2 SubmittersRCV000504094 RCV005056095
NM_001278716.2(FBXL4):c.1445G>A (p.Arg482Gln)	SNV Germline	Chr6:98875672	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided FBXL4-related disorder	Criteria Provided Conflicting Classifications	CA3933438	rs_200372976	3 SubmittersRCV000502337 RCV002056894 RCV003915400
NM_001278716.2(FBXL4):c.1411G>A (p.Ala471Thr)	SNV Germline	Chr6:98875706	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021080	rs_1227524799	1 SubmittersRCV000501437
NM_001278716.2(FBXL4):c.1389+18C>A	SNV Germline	Chr6:98880535	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933458	rs_200207652	2 SubmittersRCV000501953 RCV006463171
NM_001278716.2(FBXL4):c.1389+13G>C	SNV Germline	Chr6:98880540	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933459	rs_768430744	2 SubmittersRCV000499515 RCV002527325
NM_001278716.2(FBXL4):c.1360C>T (p.Gln454Ter)	SNV Germline	Chr6:98880582	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA3933466	rs_750973870	1 SubmittersRCV000502039
NM_001278716.2(FBXL4):c.1318-15G>C	SNV Germline	Chr6:98880639	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933475	rs_373175308	2 SubmittersRCV000499869 RCV002524385
NM_001278716.2(FBXL4):c.1318-16T>C	SNV Germline	Chr6:98880640	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933476	rs_768679543	2 SubmittersRCV000503919 RCV002527324
NM_001278716.2(FBXL4):c.1317+19T>G	SNV Germline	Chr6:98899249	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933484	rs_201615847	2 SubmittersRCV000499740 RCV002056893
NM_001278716.2(FBXL4):c.1317G>A (p.Glu439=)	SNV Germline	Chr6:98899268	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021019	rs_1554218789	1 SubmittersRCV000504527
NM_001278716.2(FBXL4):c.1304G>T (p.Arg435Leu)	SNV Germline	Chr6:98899281	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA16021018	rs_754142863	2 SubmittersRCV000503061
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter)	SNV Germline	Chr6:98899297	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3933492	rs_758395213	7 SubmittersRCV000503988 RCV001857195
NM_001278716.2(FBXL4):c.1254T>A (p.Ala418=)	SNV Germline	Chr6:98899331	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933494	rs_374215533	2 SubmittersRCV000504489 RCV006612371
NM_001278716.2(FBXL4):c.1251A>G (p.Gln417=)	SNV Germline	Chr6:98899334	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3933496	rs_151258576	3 SubmittersRCV000500348 RCV000601399 RCV000911514
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr)	SNV Germline	Chr6:98899353	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA3933499	rs_773850151	7 SubmittersRCV000499421 RCV001591147 RCV004800434
NM_001278716.2(FBXL4):c.1229C>T (p.Ser410Phe)	SNV Germline	Chr6:98899356	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021017	rs_1554218821	1 SubmittersRCV000503199
NM_001278716.2(FBXL4):c.1210C>T (p.Gln404Ter)	SNV Germline	Chr6:98899375	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16020685	rs_1187832552	1 SubmittersRCV000501652
NM_001278716.2(FBXL4):c.1209A>G (p.Leu403=)	SNV Germline	Chr6:98899376	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933504	rs_764546116	3 SubmittersRCV000503479 RCV002060159
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys)	SNV Germline	Chr6:98899450	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3933516	rs_778692687	5 SubmittersRCV000502310 RCV001865633 RCV001805121
NM_001278716.2(FBXL4):c.1125C>T (p.Ser375=)	SNV Germline	Chr6:98899460	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided FBXL4-related disorder	Criteria Provided Conflicting Classifications	CA3933518	rs_377550308	3 SubmittersRCV000503941 RCV000898248 RCV003935320
NM_001278716.2(FBXL4):c.1104-4G>T	SNV Germline	Chr6:98899485	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933522	rs_370992555	2 SubmittersRCV000501417 RCV000911866
NM_001278716.2(FBXL4):c.1104-13G>T	SNV Germline	Chr6:98899494	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933523	rs_118092784	2 SubmittersRCV000500302 RCV005056094
NM_001278716.2(FBXL4):c.1104-19T>C	SNV Germline	Chr6:98899500	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933524	rs_765527736	2 SubmittersRCV000503699 RCV003766863
NM_001278716.2(FBXL4):c.1103+13C>T	SNV Germline	Chr6:98905413	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933546	rs_182076681	3 SubmittersRCV000501936 RCV002056892
NM_001278716.2(FBXL4):c.1103+13C>G	SNV Germline	Chr6:98905413	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933547	rs_182076681	2 SubmittersRCV000499497 RCV002524379
NM_001278716.2(FBXL4):c.1083C>T (p.Ile361=)	SNV Germline	Chr6:98905446	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933552	rs_368029297	2 SubmittersRCV000501016 RCV000919426
NM_001278716.2(FBXL4):c.1073G>A (p.Arg358Lys)	SNV Germline	Chr6:98905456	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933553	rs_372544390	3 SubmittersRCV000499891 RCV002060158
NM_001278716.2(FBXL4):c.1056A>G (p.Leu352=)	SNV Germline	Chr6:98905473	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933558	rs_779748858	2 SubmittersRCV000500757 RCV002060157
NM_001278716.2(FBXL4):c.1020A>G (p.Leu340=)	SNV Germline	Chr6:98905509	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided FBXL4-related disorder	Criteria Provided Conflicting Classifications	CA3933562	rs_747657121	4 SubmittersRCV000503383 RCV002056891 RCV003960188
NM_001278716.2(FBXL4):c.1009C>T (p.Leu337=)	SNV Germline	Chr6:98905520	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933564	rs_778318524	2 SubmittersRCV000500501 RCV002524378
NM_001278716.2(FBXL4):c.954G>A (p.Leu318=)	SNV Germline	Chr6:98905575	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933574	rs_762811521	2 SubmittersRCV000503050 RCV002527319
NM_001278716.2(FBXL4):c.936G>A (p.Gln312=)	SNV Germline	Chr6:98905593	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933580	rs_142814111	2 SubmittersRCV000502028 RCV000929666
NM_001278716.2(FBXL4):c.906A>G (p.Arg302=)	SNV Germline	Chr6:98905623	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933585	rs_746193063	2 SubmittersRCV000503752 RCV002527318
NM_001278716.2(FBXL4):c.903T>A (p.Cys301Ter)	SNV Germline	Chr6:98905626	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA3933587	rs_775768793	1 SubmittersRCV000499516
NM_001278716.2(FBXL4):c.859-1G>T	SNV Germline	Chr6:98905671	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3933594	rs_368965675	2 SubmittersRCV000500730 RCV002524376
NM_001278716.2(FBXL4):c.858+5G>C	SNV Germline	Chr6:98917369	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021031	rs_1257765682	1 SubmittersRCV000500975
NM_001278716.2(FBXL4):c.858+1G>T	SNV Germline	Chr6:98917373	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021032	rs_1394080480	1 SubmittersRCV000502413
NM_001278716.2(FBXL4):c.822G>T (p.Gly274=)	SNV Germline	Chr6:98917410	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933611	rs_774255399	2 SubmittersRCV000504552 RCV005091122
NM_001278716.2(FBXL4):c.813C>T (p.Leu271=)	SNV Germline	Chr6:98917419	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933614	rs_146999462	3 SubmittersRCV000504047 RCV002527317
NM_001278716.2(FBXL4):c.766G>A (p.Gly256Ser)	SNV Germline	Chr6:98917466	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933619	rs_765912815	3 SubmittersRCV000501431 RCV002524373
NM_001278716.2(FBXL4):c.747T>C (p.Asp249=)	SNV Germline	Chr6:98917485	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933624	rs_138206466	2 SubmittersRCV000499420 RCV005056093
NM_001278716.2(FBXL4):c.747T>A (p.Asp249Glu)	SNV Germline	Chr6:98917485	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933623	rs_138206466	3 SubmittersRCV000503165 RCV001424242
NM_001278716.2(FBXL4):c.744T>C (p.Asp248=)	SNV Germline	Chr6:98917488	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933625	rs_149549442	2 SubmittersRCV000501707 RCV003114629
NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr)	SNV Germline	Chr6:98917495	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933626	rs_143154211	6 SubmittersRCV000499583 RCV000676936
NM_001278716.2(FBXL4):c.735T>C (p.Asp245=)	SNV Germline	Chr6:98917497	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933628	rs_369242693	2 SubmittersRCV000501174 RCV002524370
NM_001278716.2(FBXL4):c.714T>G (p.Thr238=)	SNV Germline	Chr6:98917518	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933634	rs_776419278	3 SubmittersRCV000500156 RCV002056890
NM_001278716.2(FBXL4):c.702T>C (p.Leu234=)	SNV Germline	Chr6:98917530	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA16020677	rs_1554221171	3 SubmittersRCV000504466 RCV001559548
NM_001278716.2(FBXL4):c.666A>C (p.Ala222=)	SNV Germline	Chr6:98917566	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933642	rs_781455701	2 SubmittersRCV000503462 RCV002527316
NM_001278716.2(FBXL4):c.662A>T (p.Asp221Val)	SNV Germline	Chr6:98917570	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021016	rs_1554221189	1 SubmittersRCV000501080
NM_001278716.2(FBXL4):c.661G>C (p.Asp221His)	SNV Germline	Chr6:98917571	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021015	rs_1554221191	1 SubmittersRCV000499569
NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter)	SNV Germline	Chr6:98917616	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16021028	rs_964532159	6 SubmittersRCV000499561 RCV005338208 RCV005648010
NM_001278716.2(FBXL4):c.614T>C (p.Ile205Thr)	SNV Germline	Chr6:98917618	Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16021014	rs_1350566881	2 SubmittersRCV000502664 RCV004719842
NM_001278716.2(FBXL4):c.541A>G (p.Thr181Ala)	SNV Germline	Chr6:98917691	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933660	rs_150748757	3 SubmittersRCV000503771 RCV001731732
NM_001278716.2(FBXL4):c.540T>G (p.Pro180=)	SNV Germline	Chr6:98917692	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933661	rs_760238524	2 SubmittersRCV000502306 RCV000961148
NM_001278716.2(FBXL4):c.513-1G>A	SNV Germline	Chr6:98917720	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021030	rs_1554221258	1 SubmittersRCV000504007
NM_001278716.2(FBXL4):c.513-13C>G	SNV Germline	Chr6:98917732	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933666	rs_200592647	2 SubmittersRCV000503390 RCV002524366
NM_001278716.2(FBXL4):c.445G>A (p.Gly149Arg)	SNV Germline	Chr6:98926544	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 not specified	Criteria Provided Conflicting Classifications	CA16021013	rs_1345325140	2 SubmittersRCV000501207 RCV006263998
NM_001278716.2(FBXL4):c.370C>T (p.Gln124Ter)	SNV Germline	Chr6:98926619	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3933702	rs_761974928	2 SubmittersRCV000502768 RCV006556124
NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter)	SNV Germline	Chr6:98926673	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA16021027	rs_1554222122	3 SubmittersRCV000503270
NM_001278716.2(FBXL4):c.300T>C (p.Tyr100=)	SNV Germline	Chr6:98926689	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided FBXL4-related disorder	Criteria Provided Conflicting Classifications	CA3933710	rs_573472397	3 SubmittersRCV000502389 RCV002524360 RCV003900057
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter)	SNV Germline	Chr6:98926697	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16021026	rs_1554222130	9 SubmittersRCV000501775 RCV001280758
NM_001278716.2(FBXL4):c.252A>G (p.Val84=)	SNV Germline	Chr6:98926737	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933713	rs_756896976	2 SubmittersRCV000503979 RCV005056092
NM_001278716.2(FBXL4):c.249T>C (p.Asn83=)	SNV Germline	Chr6:98926740	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933714	rs_372346466	2 SubmittersRCV000500438 RCV003766862
NM_001278716.2(FBXL4):c.219T>C (p.Tyr73=)	SNV Germline	Chr6:98926770	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933718	rs_747536886	3 SubmittersRCV000500539 RCV002524359
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter)	SNV Germline	Chr6:98926770	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA16021025	rs_747536886	3 SubmittersRCV000499646
NM_001278716.2(FBXL4):c.135C>T (p.Ser45=)	SNV Germline	Chr6:98926854	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933729	rs_764057679	2 SubmittersRCV000502693 RCV002060156
NM_001278716.2(FBXL4):c.125G>A (p.Ser42Asn)	SNV Germline	Chr6:98926864	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3933733	rs_750080180	2 SubmittersRCV000500084 RCV005338209
NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter)	SNV Germline	Chr6:98926883	Pathogenic	Mitochondrial DNA depletion syndrome 13 Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16021024	rs_1182326570	3 SubmittersRCV000502743 RCV000622677 RCV001865630
NM_001278716.2(FBXL4):c.104A>G (p.His35Arg)	SNV Germline	Chr6:98926885	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933738	rs_201901274	2 SubmittersRCV000502463 RCV003766861
NM_001278716.2(FBXL4):c.79A>G (p.Thr27Ala)	SNV Germline	Chr6:98926910	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3933743	rs_142853738	4 SubmittersRCV000499838 RCV000908721 RCV002527314
NM_001278716.2(FBXL4):c.78T>C (p.Ala26=)	SNV Germline	Chr6:98926911	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933744	rs_774610091	3 SubmittersRCV000503535 RCV002524357
NM_001278716.2(FBXL4):c.65G>A (p.Arg22Gln)	SNV Germline	Chr6:98926924	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933746	rs_147696366	3 SubmittersRCV000499943 RCV002060155
NM_001278716.2(FBXL4):c.48T>C (p.Tyr16=)	SNV Germline	Chr6:98926941	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 FBXL4-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3933755	rs_748705687	3 SubmittersRCV000502606 RCV003900056 RCV002524355
NM_001278716.2(FBXL4):c.36C>G (p.Thr12=)	SNV Germline	Chr6:98926953	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933758	rs_749635212	2 SubmittersRCV000502127 RCV000885031
NM_001278716.2(FBXL4):c.9G>A (p.Pro3=)	SNV Germline	Chr6:98926980	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933768	rs_773041308	3 SubmittersRCV000503341 RCV000676939
NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr)	SNV Germline	Chr6:98875444	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA143896347	rs_995995791	2 SubmittersRCV000987754 RCV002549686
NM_001278716.2(FBXL4):c.622G>T (p.Glu208Ter)	SNV Unknown	Chr6:98917610	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA365084234	rs_1582425406	1 SubmittersRCV000987755
NM_001278716.2(FBXL4):c.1252G>C (p.Ala418Pro)	SNV Germline	Chr6:98899333	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA16021275	rs_542852839	3 SubmittersRCV001254155 RCV003236884 RCV003987816
NM_001278716.2(FBXL4):c.1389+11G>A	SNV Germline	Chr6:98880542	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA16021093	rs_1770815162	2 SubmittersRCV001334682 RCV002547329
NM_001278716.2(FBXL4):c.299A>G (p.Tyr100Cys)	SNV Germline	Chr6:98926690	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA365089807	rs_2128405537	1 SubmittersRCV001449961
NM_001278716.2(FBXL4):c.486T>A (p.Tyr162Ter)	SNV Germline	Chr6:98926503	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial DNA depletion syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA365088378	rs_1562245046	3 SubmittersRCV001545084 RCV002471120
NM_001278716.2(FBXL4):c.1350T>G (p.Cys450Trp)	SNV Germline	Chr6:98880592	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA365089464	rs_2128378917	1 SubmittersRCV002267200
NM_001278716.2(FBXL4):c.197G>A (p.Gly66Glu)	SNV Germline	Chr6:98926792	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA365090808	rs_2535146567	1 SubmittersRCV003983757
NM_001278716.2(FBXL4):c.517G>T (p.Glu173Ter)	SNV Germline	Chr6:98917715	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter			1 SubmittersRCV004765476
NM_001278716.2(FBXL4):c.301G>A (p.Gly101Arg)	SNV Germline	Chr6:98926688	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter			1 SubmittersRCV005233230
NM_001278716.2(FBXL4):c.605C>G (p.Thr202Arg)	SNV Germline	Chr6:98917627	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter			1 SubmittersRCV005233235
NM_001278716.2(FBXL4):c.1703-2A>G	SNV Germline	Chr6:98874443	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter			1 SubmittersRCV005624153

NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter)

SNV
Germline

Chr6:98875562

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA144883

rs_398123059

5 SubmittersRCV000056327 RCV001090674

NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)

SNV
Germline

Chr6:98899282

Pathogenic

Mitochondrial DNA depletion syndrome 13
Mitochondrial DNA depletion syndrome
Inborn genetic diseases
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA144886

rs_201889294

12 SubmittersRCV000056328 RCV000604628 RCV000622490 RCV001837446 RCV005237491

NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala)

SNV
Germline

Chr6:98874441

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Developmental and epileptic encephalopathy, 85, with or without midline brain defects

Criteria Provided
Multiple Submitters
No Conflicts

CA144889

rs_398123060

5 SubmittersRCV000056329 RCV005861040

NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)

SNV
Germline

Chr6:98875673

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Mitochondrial encephalomyopathy
Global developmental delay
Condition: not provided
Leigh syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA144891

rs_398123061

13 SubmittersRCV000056330 RCV000162170 RCV000224233 RCV003155062 RCV003242974

NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly)

SNV
Germline

Chr6:98875423

Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA144893

rs_398123062

3 SubmittersRCV000056331 RCV005089466

NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)

SNV
Germline

Chr6:98926925

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided
Inborn genetic diseases
Neurodevelopmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA250339

rs_200440128

14 SubmittersRCV000191084 RCV000578719 RCV001267292 RCV002273980

NM_001278716.2(FBXL4):c.1442T>C (p.Leu481Pro)

SNV
Germline

Chr6:98875675

Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3933439

rs_772037717

3 SubmittersRCV000223958 RCV001570260

NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala)

SNV
Germline

Chr6:98926570

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16020684

rs_1057519447

6 SubmittersRCV000416414 RCV002521494

NM_001278716.2(FBXL4):c.351G>A (p.Thr117=)

SNV
Germline

Chr6:98926638

Conflicting classifications of pathogenicity

not specified
Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933704

rs_375173811

3 SubmittersRCV000442612 RCV000504348 RCV001462606

NM_001278716.2(FBXL4):c.1353A>G (p.Ser451=)

SNV
Germline

Chr6:98880589

Conflicting classifications of pathogenicity

not specified
Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933468

rs_141165629

3 SubmittersRCV000440338 RCV000504299 RCV006462794

NM_001278716.2(FBXL4):c.1317+14A>G

SNV
Germline

Chr6:98899254

Conflicting classifications of pathogenicity

not specified
Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933486

rs_182139048

3 SubmittersRCV000426610 RCV000501519 RCV002058943

NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln)

SNV
Germline

Chr6:98899281

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 13
Inborn genetic diseases
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3933489

rs_754142863

5 SubmittersRCV000493951 RCV000501572 RCV000623300 RCV004782406

NM_001278716.2(FBXL4):c.*9A>G

SNV
Germline

Chr6:98874269

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933330

rs_185850413

3 SubmittersRCV000501110 RCV001555610

NM_001278716.2(FBXL4):c.1838T>A (p.Val613Glu)

SNV
Germline

Chr6:98874306

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16020678

rs_1554215766

1 SubmittersRCV000504289

NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro)

SNV
Germline

Chr6:98874354

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3933338

rs_201989042

6 SubmittersRCV000502841 RCV000657861 RCV004525949

NM_001278716.2(FBXL4):c.1788G>A (p.Ser596=)

SNV
Germline

Chr6:98874356

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933339

rs_745713189

2 SubmittersRCV000503469 RCV002524395

NM_001278716.2(FBXL4):c.1772A>G (p.Asp591Gly)

SNV
Germline

Chr6:98874372

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021023

rs_747618415

1 SubmittersRCV000500771

NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala)

SNV
Germline

Chr6:98874372

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Conflicting Classifications

CA3933345

rs_747618415

2 SubmittersRCV000503844

NM_001278716.2(FBXL4):c.1764T>G (p.Ser588=)

SNV
Germline

Chr6:98874380

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933346

rs_770326964

2 SubmittersRCV000501464 RCV003565431

NM_001278716.2(FBXL4):c.1750T>C (p.Cys584Arg)

SNV
Germline

Chr6:98874394

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021022

rs_1554215804

1 SubmittersRCV000504456

NM_001278716.2(FBXL4):c.1729T>C (p.Leu577=)

SNV
Germline

Chr6:98874415

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933354

rs_756228059

2 SubmittersRCV000502173 RCV005056096

NM_001278716.2(FBXL4):c.1723G>T (p.Ala575Ser)

SNV
Germline

Chr6:98874421

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933355

rs_200435702

2 SubmittersRCV000501068 RCV001402425

NM_001278716.2(FBXL4):c.1722G>A (p.Pro574=)

SNV
Germline

Chr6:98874422

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933357

rs_373647205

2 SubmittersRCV000502068 RCV006556126

NM_001278716.2(FBXL4):c.1703-14T>C

SNV
Germline

Chr6:98874455

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933368

rs_773834428

2 SubmittersRCV000501808 RCV002524391

NM_001278716.2(FBXL4):c.1702+18A>G

SNV
Germline

Chr6:98875397

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933399

rs_776605924

2 SubmittersRCV000500661 RCV002524390

NM_001278716.2(FBXL4):c.1702+11A>T

SNV
Germline

Chr6:98875404

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933400

rs_369407577

2 SubmittersRCV000503437 RCV003574780

NM_001278716.2(FBXL4):c.1699T>C (p.Leu567=)

SNV
Germline

Chr6:98875418

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933403

rs_183776114

2 SubmittersRCV000502633 RCV002060161

NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met)

SNV
Germline

Chr6:98875419

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA16020683

rs_1554215959

3 SubmittersRCV000500228

NM_001278716.2(FBXL4):c.1689G>A (p.Gln563=)

SNV
Germline

Chr6:98875428

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933404

rs_767302112

2 SubmittersRCV000501544 RCV005091123

NM_001278716.2(FBXL4):c.1687C>T (p.Gln563Ter)

SNV
Germline

Chr6:98875430

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16020676

rs_1554215964

1 SubmittersRCV000501548

NM_001278716.2(FBXL4):c.1656T>C (p.Asp552=)

SNV
Germline

Chr6:98875461

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933410

rs_779344587

3 SubmittersRCV000501277 RCV002060160

NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn)

SNV
Germline

Chr6:98875465

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Conflicting Classifications

CA16021021

rs_1554215979

2 SubmittersRCV000502490

NM_001278716.2(FBXL4):c.1622C>T (p.Thr541Ile)

SNV
Germline

Chr6:98875495

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
not specified

Criteria Provided
Conflicting Classifications

CA16020675

rs_1391578014

2 SubmittersRCV000500362 RCV003155218

NM_001278716.2(FBXL4):c.1586C>A (p.Ala529Glu)

SNV
Germline

Chr6:98875531

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
not specified

Criteria Provided
Conflicting Classifications

CA365086857

rs_1443104983

2 SubmittersRCV000503405 RCV005418173

NM_001278716.2(FBXL4):c.1569G>C (p.Gly523=)

SNV
Germline

Chr6:98875548

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933420

rs_11537982

2 SubmittersRCV000500232 RCV006463172

NM_001278716.2(FBXL4):c.1566C>T (p.Thr522=)

SNV
Germline

Chr6:98875551

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933422

rs_149704398

3 SubmittersRCV000501894 RCV000827600

NM_001278716.2(FBXL4):c.1540T>G (p.Trp514Gly)

SNV
Germline

Chr6:98875577

Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16021070

rs_1411907961

3 SubmittersRCV000501986 RCV003237885

NM_001278716.2(FBXL4):c.1518A>G (p.Leu506=)

SNV
Germline

Chr6:98875599

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933431

rs_556881504

2 SubmittersRCV000503257 RCV003766864

NM_001278716.2(FBXL4):c.1464A>G (p.Arg488=)

SNV
Germline

Chr6:98875653

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
FBXL4-related disorder

Criteria Provided
Conflicting Classifications

CA3933436

rs_748404878

4 SubmittersRCV000500701 RCV003311830 RCV003925499

NM_001278716.2(FBXL4):c.1449C>G (p.Thr483=)

SNV
Germline

Chr6:98875668

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933437

rs_144468932

2 SubmittersRCV000504094 RCV005056095

NM_001278716.2(FBXL4):c.1445G>A (p.Arg482Gln)

SNV
Germline

Chr6:98875672

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
FBXL4-related disorder

Criteria Provided
Conflicting Classifications

CA3933438

rs_200372976

3 SubmittersRCV000502337 RCV002056894 RCV003915400

NM_001278716.2(FBXL4):c.1411G>A (p.Ala471Thr)

SNV
Germline

Chr6:98875706

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021080

rs_1227524799

1 SubmittersRCV000501437

NM_001278716.2(FBXL4):c.1389+18C>A

SNV
Germline

Chr6:98880535

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933458

rs_200207652

2 SubmittersRCV000501953 RCV006463171

NM_001278716.2(FBXL4):c.1389+13G>C

SNV
Germline

Chr6:98880540

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933459

rs_768430744

2 SubmittersRCV000499515 RCV002527325

NM_001278716.2(FBXL4):c.1360C>T (p.Gln454Ter)

SNV
Germline

Chr6:98880582

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA3933466

rs_750973870

1 SubmittersRCV000502039

NM_001278716.2(FBXL4):c.1318-15G>C

SNV
Germline

Chr6:98880639

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933475

rs_373175308

2 SubmittersRCV000499869 RCV002524385

NM_001278716.2(FBXL4):c.1318-16T>C

SNV
Germline

Chr6:98880640

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933476

rs_768679543

2 SubmittersRCV000503919 RCV002527324

NM_001278716.2(FBXL4):c.1317+19T>G

SNV
Germline

Chr6:98899249

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933484

rs_201615847

2 SubmittersRCV000499740 RCV002056893

NM_001278716.2(FBXL4):c.1317G>A (p.Glu439=)

SNV
Germline

Chr6:98899268

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021019

rs_1554218789

1 SubmittersRCV000504527

NM_001278716.2(FBXL4):c.1304G>T (p.Arg435Leu)

SNV
Germline

Chr6:98899281

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA16021018

rs_754142863

2 SubmittersRCV000503061

NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter)

SNV
Germline

Chr6:98899297

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3933492

rs_758395213

7 SubmittersRCV000503988 RCV001857195

NM_001278716.2(FBXL4):c.1254T>A (p.Ala418=)

SNV
Germline

Chr6:98899331

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933494

rs_374215533

2 SubmittersRCV000504489 RCV006612371

NM_001278716.2(FBXL4):c.1251A>G (p.Gln417=)

SNV
Germline

Chr6:98899334

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933496

rs_151258576

3 SubmittersRCV000500348 RCV000601399 RCV000911514

NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr)

SNV
Germline

Chr6:98899353

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3933499

rs_773850151

7 SubmittersRCV000499421 RCV001591147 RCV004800434

NM_001278716.2(FBXL4):c.1229C>T (p.Ser410Phe)

SNV
Germline

Chr6:98899356

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021017

rs_1554218821

1 SubmittersRCV000503199

NM_001278716.2(FBXL4):c.1210C>T (p.Gln404Ter)

SNV
Germline

Chr6:98899375

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16020685

rs_1187832552

1 SubmittersRCV000501652

NM_001278716.2(FBXL4):c.1209A>G (p.Leu403=)

SNV
Germline

Chr6:98899376

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933504

rs_764546116

3 SubmittersRCV000503479 RCV002060159

NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys)

SNV
Germline

Chr6:98899450

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3933516

rs_778692687

5 SubmittersRCV000502310 RCV001865633 RCV001805121

NM_001278716.2(FBXL4):c.1125C>T (p.Ser375=)

SNV
Germline

Chr6:98899460

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
FBXL4-related disorder

Criteria Provided
Conflicting Classifications

CA3933518

rs_377550308

3 SubmittersRCV000503941 RCV000898248 RCV003935320

NM_001278716.2(FBXL4):c.1104-4G>T

SNV
Germline

Chr6:98899485

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933522

rs_370992555

2 SubmittersRCV000501417 RCV000911866

NM_001278716.2(FBXL4):c.1104-13G>T

SNV
Germline

Chr6:98899494

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933523

rs_118092784

2 SubmittersRCV000500302 RCV005056094

NM_001278716.2(FBXL4):c.1104-19T>C

SNV
Germline

Chr6:98899500

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933524

rs_765527736

2 SubmittersRCV000503699 RCV003766863

NM_001278716.2(FBXL4):c.1103+13C>T

SNV
Germline

Chr6:98905413

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933546

rs_182076681

3 SubmittersRCV000501936 RCV002056892

NM_001278716.2(FBXL4):c.1103+13C>G

SNV
Germline

Chr6:98905413

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933547

rs_182076681

2 SubmittersRCV000499497 RCV002524379

NM_001278716.2(FBXL4):c.1083C>T (p.Ile361=)

SNV
Germline

Chr6:98905446

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933552

rs_368029297

2 SubmittersRCV000501016 RCV000919426

NM_001278716.2(FBXL4):c.1073G>A (p.Arg358Lys)

SNV
Germline

Chr6:98905456

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933553

rs_372544390

3 SubmittersRCV000499891 RCV002060158

NM_001278716.2(FBXL4):c.1056A>G (p.Leu352=)

SNV
Germline

Chr6:98905473

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933558

rs_779748858

2 SubmittersRCV000500757 RCV002060157

NM_001278716.2(FBXL4):c.1020A>G (p.Leu340=)

SNV
Germline

Chr6:98905509

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
FBXL4-related disorder

Criteria Provided
Conflicting Classifications

CA3933562

rs_747657121

4 SubmittersRCV000503383 RCV002056891 RCV003960188

NM_001278716.2(FBXL4):c.1009C>T (p.Leu337=)

SNV
Germline

Chr6:98905520

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933564

rs_778318524

2 SubmittersRCV000500501 RCV002524378

NM_001278716.2(FBXL4):c.954G>A (p.Leu318=)

SNV
Germline

Chr6:98905575

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933574

rs_762811521

2 SubmittersRCV000503050 RCV002527319

NM_001278716.2(FBXL4):c.936G>A (p.Gln312=)

SNV
Germline

Chr6:98905593

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933580

rs_142814111

2 SubmittersRCV000502028 RCV000929666

NM_001278716.2(FBXL4):c.906A>G (p.Arg302=)

SNV
Germline

Chr6:98905623

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933585

rs_746193063

2 SubmittersRCV000503752 RCV002527318

NM_001278716.2(FBXL4):c.903T>A (p.Cys301Ter)

SNV
Germline

Chr6:98905626

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA3933587

rs_775768793

1 SubmittersRCV000499516

NM_001278716.2(FBXL4):c.859-1G>T

SNV
Germline

Chr6:98905671

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3933594

rs_368965675

2 SubmittersRCV000500730 RCV002524376

NM_001278716.2(FBXL4):c.858+5G>C

SNV
Germline

Chr6:98917369

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021031

rs_1257765682

1 SubmittersRCV000500975

NM_001278716.2(FBXL4):c.858+1G>T

SNV
Germline

Chr6:98917373

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021032

rs_1394080480

1 SubmittersRCV000502413

NM_001278716.2(FBXL4):c.822G>T (p.Gly274=)

SNV
Germline

Chr6:98917410

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933611

rs_774255399

2 SubmittersRCV000504552 RCV005091122

NM_001278716.2(FBXL4):c.813C>T (p.Leu271=)

SNV
Germline

Chr6:98917419

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933614

rs_146999462

3 SubmittersRCV000504047 RCV002527317

NM_001278716.2(FBXL4):c.766G>A (p.Gly256Ser)

SNV
Germline

Chr6:98917466

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933619

rs_765912815

3 SubmittersRCV000501431 RCV002524373

NM_001278716.2(FBXL4):c.747T>C (p.Asp249=)

SNV
Germline

Chr6:98917485

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933624

rs_138206466

2 SubmittersRCV000499420 RCV005056093

NM_001278716.2(FBXL4):c.747T>A (p.Asp249Glu)

SNV
Germline

Chr6:98917485

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933623

rs_138206466

3 SubmittersRCV000503165 RCV001424242

NM_001278716.2(FBXL4):c.744T>C (p.Asp248=)

SNV
Germline

Chr6:98917488

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933625

rs_149549442

2 SubmittersRCV000501707 RCV003114629

NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr)

SNV
Germline

Chr6:98917495

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933626

rs_143154211

6 SubmittersRCV000499583 RCV000676936

NM_001278716.2(FBXL4):c.735T>C (p.Asp245=)

SNV
Germline

Chr6:98917497

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933628

rs_369242693

2 SubmittersRCV000501174 RCV002524370

NM_001278716.2(FBXL4):c.714T>G (p.Thr238=)

SNV
Germline

Chr6:98917518

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933634

rs_776419278

3 SubmittersRCV000500156 RCV002056890

NM_001278716.2(FBXL4):c.702T>C (p.Leu234=)

SNV
Germline

Chr6:98917530

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16020677

rs_1554221171

3 SubmittersRCV000504466 RCV001559548

NM_001278716.2(FBXL4):c.666A>C (p.Ala222=)

SNV
Germline

Chr6:98917566

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933642

rs_781455701

2 SubmittersRCV000503462 RCV002527316

NM_001278716.2(FBXL4):c.662A>T (p.Asp221Val)

SNV
Germline

Chr6:98917570

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021016

rs_1554221189

1 SubmittersRCV000501080

NM_001278716.2(FBXL4):c.661G>C (p.Asp221His)

SNV
Germline

Chr6:98917571

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021015

rs_1554221191

1 SubmittersRCV000499569

NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter)

SNV
Germline

Chr6:98917616

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16021028

rs_964532159

6 SubmittersRCV000499561 RCV005338208 RCV005648010

NM_001278716.2(FBXL4):c.614T>C (p.Ile205Thr)

SNV
Germline

Chr6:98917618

Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16021014

rs_1350566881

2 SubmittersRCV000502664 RCV004719842

NM_001278716.2(FBXL4):c.541A>G (p.Thr181Ala)

SNV
Germline

Chr6:98917691

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933660

rs_150748757

3 SubmittersRCV000503771 RCV001731732

NM_001278716.2(FBXL4):c.540T>G (p.Pro180=)

SNV
Germline

Chr6:98917692

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933661

rs_760238524

2 SubmittersRCV000502306 RCV000961148

NM_001278716.2(FBXL4):c.513-1G>A

SNV
Germline

Chr6:98917720

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021030

rs_1554221258

1 SubmittersRCV000504007

NM_001278716.2(FBXL4):c.513-13C>G

SNV
Germline

Chr6:98917732

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933666

rs_200592647

2 SubmittersRCV000503390 RCV002524366

NM_001278716.2(FBXL4):c.445G>A (p.Gly149Arg)

SNV
Germline

Chr6:98926544

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
not specified

Criteria Provided
Conflicting Classifications

CA16021013

rs_1345325140

2 SubmittersRCV000501207 RCV006263998

NM_001278716.2(FBXL4):c.370C>T (p.Gln124Ter)

SNV
Germline

Chr6:98926619

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3933702

rs_761974928

2 SubmittersRCV000502768 RCV006556124

NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter)

SNV
Germline

Chr6:98926673

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA16021027

rs_1554222122

3 SubmittersRCV000503270

NM_001278716.2(FBXL4):c.300T>C (p.Tyr100=)

SNV
Germline

Chr6:98926689

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
FBXL4-related disorder

Criteria Provided
Conflicting Classifications

CA3933710

rs_573472397

3 SubmittersRCV000502389 RCV002524360 RCV003900057

NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter)

SNV
Germline

Chr6:98926697

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16021026

rs_1554222130

9 SubmittersRCV000501775 RCV001280758

NM_001278716.2(FBXL4):c.252A>G (p.Val84=)

SNV
Germline

Chr6:98926737

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933713

rs_756896976

2 SubmittersRCV000503979 RCV005056092

NM_001278716.2(FBXL4):c.249T>C (p.Asn83=)

SNV
Germline

Chr6:98926740

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933714

rs_372346466

2 SubmittersRCV000500438 RCV003766862

NM_001278716.2(FBXL4):c.219T>C (p.Tyr73=)

SNV
Germline

Chr6:98926770

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933718

rs_747536886

3 SubmittersRCV000500539 RCV002524359

NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter)

SNV
Germline

Chr6:98926770

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA16021025

rs_747536886

3 SubmittersRCV000499646

NM_001278716.2(FBXL4):c.135C>T (p.Ser45=)

SNV
Germline

Chr6:98926854

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933729

rs_764057679

2 SubmittersRCV000502693 RCV002060156

NM_001278716.2(FBXL4):c.125G>A (p.Ser42Asn)

SNV
Germline

Chr6:98926864

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3933733

rs_750080180

2 SubmittersRCV000500084 RCV005338209

NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter)

SNV
Germline

Chr6:98926883

Pathogenic

Mitochondrial DNA depletion syndrome 13
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16021024

rs_1182326570

3 SubmittersRCV000502743 RCV000622677 RCV001865630

NM_001278716.2(FBXL4):c.104A>G (p.His35Arg)

SNV
Germline

Chr6:98926885

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933738

rs_201901274

2 SubmittersRCV000502463 RCV003766861

NM_001278716.2(FBXL4):c.79A>G (p.Thr27Ala)

SNV
Germline

Chr6:98926910

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3933743

rs_142853738

4 SubmittersRCV000499838 RCV000908721 RCV002527314

NM_001278716.2(FBXL4):c.78T>C (p.Ala26=)

SNV
Germline

Chr6:98926911

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933744

rs_774610091

3 SubmittersRCV000503535 RCV002524357

NM_001278716.2(FBXL4):c.65G>A (p.Arg22Gln)

SNV
Germline

Chr6:98926924

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933746

rs_147696366

3 SubmittersRCV000499943 RCV002060155

NM_001278716.2(FBXL4):c.48T>C (p.Tyr16=)

SNV
Germline

Chr6:98926941

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
FBXL4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933755

rs_748705687

3 SubmittersRCV000502606 RCV003900056 RCV002524355

NM_001278716.2(FBXL4):c.36C>G (p.Thr12=)

SNV
Germline

Chr6:98926953

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933758

rs_749635212

2 SubmittersRCV000502127 RCV000885031

NM_001278716.2(FBXL4):c.9G>A (p.Pro3=)

SNV
Germline

Chr6:98926980

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933768

rs_773041308

3 SubmittersRCV000503341 RCV000676939

NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr)

SNV
Germline

Chr6:98875444

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143896347

rs_995995791

2 SubmittersRCV000987754 RCV002549686

NM_001278716.2(FBXL4):c.622G>T (p.Glu208Ter)

SNV
Unknown

Chr6:98917610

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA365084234

rs_1582425406

1 SubmittersRCV000987755

NM_001278716.2(FBXL4):c.1252G>C (p.Ala418Pro)

SNV
Germline

Chr6:98899333

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA16021275

rs_542852839

3 SubmittersRCV001254155 RCV003236884 RCV003987816

NM_001278716.2(FBXL4):c.1389+11G>A

SNV
Germline

Chr6:98880542

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16021093

rs_1770815162

2 SubmittersRCV001334682 RCV002547329

NM_001278716.2(FBXL4):c.299A>G (p.Tyr100Cys)

SNV
Germline

Chr6:98926690

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA365089807

rs_2128405537

1 SubmittersRCV001449961

NM_001278716.2(FBXL4):c.486T>A (p.Tyr162Ter)

SNV
Germline

Chr6:98926503

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA365088378

rs_1562245046

3 SubmittersRCV001545084 RCV002471120

NM_001278716.2(FBXL4):c.1350T>G (p.Cys450Trp)

SNV
Germline

Chr6:98880592

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA365089464

rs_2128378917

1 SubmittersRCV002267200

NM_001278716.2(FBXL4):c.197G>A (p.Gly66Glu)

SNV
Germline

Chr6:98926792

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA365090808

rs_2535146567

1 SubmittersRCV003983757

NM_001278716.2(FBXL4):c.517G>T (p.Glu173Ter)

SNV
Germline

Chr6:98917715

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV004765476

NM_001278716.2(FBXL4):c.301G>A (p.Gly101Arg)

SNV
Germline

Chr6:98926688

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV005233230

NM_001278716.2(FBXL4):c.605C>G (p.Thr202Arg)

SNV
Germline

Chr6:98917627

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV005233235

NM_001278716.2(FBXL4):c.1703-2A>G

SNV
Germline

Chr6:98874443

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV005624153