Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_012233.3(RAB3GAP1):c.649-2A>G	SNV Germline	Chr2:135120817	Pathogenic	Warburg micro syndrome 1	No Assertion Criteria Provided	CA118599	rs_730882183	2 SubmittersRCV000007473
NM_012233.3(RAB3GAP1):c.748+1G>A	SNV Germline	Chr2:135120919	Pathogenic	Warburg micro syndrome 1 Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA118600	rs_587776651	10 SubmittersRCV000007474 RCV000578621 RCV002512875
NM_012233.3(RAB3GAP1):c.2011C>T (p.Arg671Ter)	SNV Germline	Chr2:135150456	Pathogenic	Warburg micro syndrome 1	No Assertion Criteria Provided	CA118601	rs_137853052	1 SubmittersRCV000007475
NM_012233.3(RAB3GAP1):c.1734G>A (p.Trp578Ter)	SNV Germline	Chr2:135135743	Pathogenic	Warburg micro syndrome 1	No Assertion Criteria Provided	CA118603	rs_137853053	1 SubmittersRCV000007476
NM_012233.3(RAB3GAP1):c.1410C>A (p.Tyr470Ter)	SNV Germline	Chr2:135133944	Pathogenic	Warburg micro syndrome 1	No Assertion Criteria Provided	CA118605	rs_267606996	1 SubmittersRCV000007477
NM_021252.5(RAB18):c.71T>A (p.Leu24Gln)	SNV Germline	Chr10:27509877	Pathogenic	Warburg micro syndrome 3	No Assertion Criteria Provided	CA129062	rs_387906832	2 SubmittersRCV000023171
NM_021252.5(RAB18):c.619T>C (p.Ter207Gln)	SNV Germline	Chr10:27538049	Pathogenic	Warburg micro syndrome 3	Criteria Provided Single Submitter	CA129065	rs_387906833	3 SubmittersRCV000023174
NM_021252.5(RAB18):c.284C>G (p.Thr95Arg)	SNV Germline	Chr10:27533759	Pathogenic	Warburg micro syndrome 3	No Assertion Criteria Provided	CA150633	rs_587777151	2 SubmittersRCV000087132
NM_012233.3(RAB3GAP1):c.899+1G>A	SNV Germline	Chr2:135126250	Pathogenic	Warburg micro syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA150635	rs_587777152	5 SubmittersRCV000087133 RCV000520187
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro)	SNV Germline	Chr2:135052463	Pathogenic	Warburg micro syndrome 1	No Assertion Criteria Provided	CA150637	rs_587777154	2 SubmittersRCV000087135
NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val)	SNV Germline	Chr2:135052482	Pathogenic	Warburg micro syndrome 1	No Assertion Criteria Provided	CA150639	rs_587777155	2 SubmittersRCV000087136
NM_144628.4(TBC1D20):c.199C>T (p.Arg67Ter)	SNV Germline	Chr20:447946	Pathogenic	Warburg micro syndrome 4	No Assertion Criteria Provided	CA150642	rs_587777157	1 SubmittersRCV000087138
NM_144628.4(TBC1D20):c.292C>T (p.Gln98Ter)	SNV Germline	Chr20:445095	Pathogenic	Warburg micro syndrome 4	No Assertion Criteria Provided	CA150644	rs_587777158	1 SubmittersRCV000087139
NM_144628.4(TBC1D20):c.672G>A (p.Trp224Ter)	SNV Germline	Chr20:440344	Pathogenic	Warburg micro syndrome 4	No Assertion Criteria Provided	CA150647	rs_587777160	1 SubmittersRCV000087141
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)	SNV Germline	Chr1:220191279	Pathogenic/Likely pathogenic	Martsolf syndrome Warburg micro syndrome 2 Martsolf syndrome Martsolf syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA150652	rs_587777167	5 SubmittersRCV000087150 RCV000850507 RCV001807041
NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter)	SNV Germline	Chr1:220191121	Pathogenic	Warburg micro syndrome 2	No Assertion Criteria Provided	CA150654	rs_587777168	1 SubmittersRCV000087151
NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter)	SNV Germline	Chr1:220153976	Pathogenic	Warburg micro syndrome 2 See cases	Criteria Provided Single Submitter	CA150656	rs_587777169	2 SubmittersRCV000087152 RCV002251979
NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter)	SNV Germline	Chr1:220167295	Pathogenic	Warburg micro syndrome 2	No Assertion Criteria Provided	CA150658	rs_587777170	1 SubmittersRCV000087153
NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=)	SNV Germline	Chr1:220202313	Conflicting classifications of pathogenicity	Condition: not provided Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Conflicting Classifications	CA231434	rs_576411922	2 SubmittersRCV000118100 RCV000553551
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)	SNV Germline	Chr2:135130030	Pathogenic	Condition: not provided Warburg micro syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA236072	rs_766629205	3 SubmittersRCV000171306 RCV000985082
NM_012414.4(RAB3GAP2):c.713-2A>G	SNV Germline	Chr1:220202376	Conflicting classifications of pathogenicity	Warburg micro syndrome 2 Condition: not provided Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Conflicting Classifications	CA204576	rs_797045103	3 SubmittersRCV000190619 RCV000578596 RCV002514086
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)	SNV Germline	Chr1:220151373	Conflicting classifications of pathogenicity	not specified Martsolf syndrome Warburg micro syndrome 2 Warburg micro syndrome 2 Martsolf syndrome RAB3GAP2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA206092	rs_59190330	8 SubmittersRCV000192933 RCV001096880 RCV001096881 RCV000638451 RCV004530142 RCV001721259
NM_012414.4(RAB3GAP2):c.3525C>T (p.Thr1175=)	SNV Germline	Chr1:220157300	Conflicting classifications of pathogenicity	not specified Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Conflicting Classifications	CA207010	rs_145701892	2 SubmittersRCV000193489 RCV001500500
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val)	SNV Germline	Chr1:220182922	Conflicting classifications of pathogenicity	Warburg micro syndrome 2 Martsolf syndrome not specified Warburg micro syndrome 2 Martsolf syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA206883	rs_201613456	4 SubmittersRCV000299268 RCV000393027 RCV000193412 RCV000877111 RCV001705085
NM_012414.4(RAB3GAP2):c.504C>T (p.Tyr168=)	SNV Germline	Chr1:220210807	Conflicting classifications of pathogenicity	not specified Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Conflicting Classifications	CA208889	rs_778754576	2 SubmittersRCV000194613 RCV002054276
NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter)	SNV Germline	Chr2:135164629	Pathogenic	Warburg micro syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA208389	rs_797045905	2 SubmittersRCV000194301
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe)	SNV Germline	Chr1:220182277	Conflicting classifications of pathogenicity	Condition: not provided Warburg micro syndrome 2 Martsolf syndrome not specified Martsolf syndrome Warburg micro syndrome 2 RAB3GAP2-related disorder	Criteria Provided Conflicting Classifications	CA1402470	rs_139337049	8 SubmittersRCV000224837 RCV000283527 RCV000347930 RCV000502830 RCV000528699 RCV004541363
NM_012414.4(RAB3GAP2):c.3702C>T (p.Val1234=)	SNV Germline	Chr1:220153350	Conflicting classifications of pathogenicity	Condition: not provided Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Conflicting Classifications	CA1402055	rs_137897304	2 SubmittersRCV000281351 RCV001078896
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys)	SNV Germline	Chr1:220153210	Conflicting classifications of pathogenicity	Condition: not provided Warburg micro syndrome 2 Martsolf syndrome RAB3GAP2-related disorder	Criteria Provided Conflicting Classifications	CA1402036	rs_34081806	5 SubmittersRCV000658150 RCV001078526 RCV004543099
NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg)	SNV Germline	Chr1:220164744	Conflicting classifications of pathogenicity	Martsolf syndrome Warburg micro syndrome 2 Warburg micro syndrome 2 Martsolf syndrome Condition: not provided RAB3GAP2-related disorder Warburg micro syndrome 2 Martsolf syndrome 1	Criteria Provided Conflicting Classifications	CA1402236	rs_151244742	5 SubmittersRCV000278970 RCV000343307 RCV001459064 RCV000952485 RCV004537642 RCV005008272
NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu)	SNV Germline	Chr1:220182762	Conflicting classifications of pathogenicity	Warburg micro syndrome 2 Martsolf syndrome Warburg micro syndrome 2 Martsolf syndrome not specified RAB3GAP2-related disorder	Criteria Provided Conflicting Classifications	CA1402497	rs_150643803	4 SubmittersRCV000289408 RCV000383731 RCV000540400 RCV000612262 RCV004543161
NM_012414.4(RAB3GAP2):c.3867+13C>T	SNV Germline	Chr1:220153172	Conflicting classifications of pathogenicity	not specified Warburg micro syndrome 2 Martsolf syndrome Warburg micro syndrome 2 Martsolf syndrome RAB3GAP2-related disorder	Criteria Provided Conflicting Classifications	CA1402033	rs_200579008	4 SubmittersRCV000429789 RCV000365983 RCV000271419 RCV002059431 RCV004537641
NM_012414.4(RAB3GAP2):c.3868-8A>G	SNV Germline	Chr1:220151772	Conflicting classifications of pathogenicity	Warburg micro syndrome 2 Martsolf syndrome Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Conflicting Classifications	CA10610152	rs_886046018	2 SubmittersRCV000301829 RCV000404770 RCV003765718
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=)	SNV Germline	Chr1:220157435	Conflicting classifications of pathogenicity	Warburg micro syndrome 2 Martsolf syndrome Martsolf syndrome Warburg micro syndrome 2 Condition: not provided not specified RAB3GAP2-related disorder	Criteria Provided Conflicting Classifications	CA1402130	rs_140377995	7 SubmittersRCV000282429 RCV000386137 RCV000874216 RCV001711771 RCV000419048 RCV004734949
NM_012414.4(RAB3GAP2):c.2538T>G (p.Ser846=)	SNV Germline	Chr1:220171928	Conflicting classifications of pathogenicity	Warburg micro syndrome 2 Martsolf syndrome Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Conflicting Classifications	CA1402392	rs_368216093	2 SubmittersRCV000275636 RCV000370134 RCV002519494
NM_012414.4(RAB3GAP2):c.1131-4T>C	SNV Germline	Chr1:220193383	Conflicting classifications of pathogenicity	Warburg micro syndrome 2 Martsolf syndrome Warburg micro syndrome 2 Martsolf syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1402752	rs_752780415	3 SubmittersRCV000391817 RCV000304830 RCV002520417 RCV002520418
NM_012233.3(RAB3GAP1):c.239T>C (p.Val80Ala)	SNV Germline	Chr2:135091086	Conflicting classifications of pathogenicity	Warburg micro syndrome 1 RAB3GAP1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA1884467	rs_767842373	3 SubmittersRCV000322579 RCV004544606 RCV002521286
NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=)	SNV Germline	Chr2:135113199	Conflicting classifications of pathogenicity	Warburg micro syndrome 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1884526	rs_140929274	8 SubmittersRCV000320057 RCV000712892 RCV000433020
NM_021252.5(RAB18):c.36C>A (p.Leu12=)	SNV Germline	Chr10:27504405	Conflicting classifications of pathogenicity	Warburg micro syndrome 3 Condition: not provided RAB18-related disorder	Criteria Provided Conflicting Classifications	CA5452103	rs_61757825	3 SubmittersRCV000300444 RCV002059548 RCV003977864
NM_012233.3(RAB3GAP1):c.1268C>G (p.Pro423Arg)	SNV Germline	Chr2:135132926	Conflicting classifications of pathogenicity	Warburg micro syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA1884799	rs_143010678	3 SubmittersRCV001134799 RCV000945862
NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val)	SNV Germline	Chr1:220191149	Conflicting classifications of pathogenicity	not specified Warburg micro syndrome 2 Condition: not provided Martsolf syndrome Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Conflicting Classifications	CA1402705	rs_151225064	4 SubmittersRCV000501400 RCV001100653 RCV001813785 RCV001100652 RCV003766847
NM_012414.4(RAB3GAP2):c.173A>C (p.Gln58Pro)	SNV Germline	Chr1:220232806	Conflicting classifications of pathogenicity	Condition: not provided Martsolf syndrome Warburg micro syndrome 2	Criteria Provided Conflicting Classifications	CA1403114	rs_111859466	2 SubmittersRCV000523969 RCV002060275
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter)	SNV Germline	Chr2:135130060	Pathogenic	Warburg micro syndrome 1 Condition: not provided Warburg micro syndrome 1 Martsolf syndrome 2 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA1884736	rs_532964185	6 SubmittersRCV000656360 RCV001855346 RCV002507142 RCV005470484
NM_012233.3(RAB3GAP1):c.469G>T (p.Gly157Ter)	SNV Germline	Chr2:135113257	Pathogenic	Warburg micro syndrome 1	Criteria Provided Single Submitter	CA348566963	rs_1558782178	1 SubmittersRCV000680080
NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter)	SNV Germline	Chr2:135132968	Pathogenic	Warburg micro syndrome 1	Criteria Provided Single Submitter	CA348575080	rs_1558792256	1 SubmittersRCV000679853
NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter)	SNV Germline	Chr2:135162847	Conflicting classifications of pathogenicity	Condition: not provided Warburg micro syndrome 1	No Assertion Criteria Provided	CA348585962	rs_1558805781	2 SubmittersRCV000722877 RCV001352686
NM_012233.3(RAB3GAP1):c.1237-2A>G	SNV Unknown	Chr2:135132893	Pathogenic	Warburg micro syndrome 1	Criteria Provided Single Submitter	CA348574727	rs_1558792168	1 SubmittersRCV000761455
NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter)	SNV Unknown	Chr2:135162986	Pathogenic	Warburg micro syndrome 1	Criteria Provided Single Submitter	CA348586017	rs_1558805900	1 SubmittersRCV000761456
NM_012233.3(RAB3GAP1):c.1908C>G (p.Tyr636Ter)	SNV Germline	Chr2:135135917	Pathogenic	Warburg micro syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA348578280	rs_1573585099	2 SubmittersRCV000790401 RCV001091553
NM_012414.4(RAB3GAP2):c.3757C>T (p.Pro1253Ser)	SNV Germline	Chr1:220153295	Conflicting classifications of pathogenicity	Condition: not provided Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Conflicting Classifications	CA1402048	rs_564016323	2 SubmittersRCV000836068 RCV002538283
NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr)	SNV Germline	Chr1:220153997	Conflicting classifications of pathogenicity	Martsolf syndrome Warburg micro syndrome 2 Amenorrhea Condition: not provided	Criteria Provided Conflicting Classifications	CA1402084	rs_139407102	3 SubmittersRCV000876115 RCV001849462 RCV002285426
NM_012414.4(RAB3GAP2):c.3294T>C (p.Ser1098=)	SNV Germline	Chr1:220157844	Conflicting classifications of pathogenicity	Martsolf syndrome Warburg micro syndrome 2 Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Conflicting Classifications	CA1402168	rs_368788359	2 SubmittersRCV001102386 RCV001102387 RCV000946166
NM_012414.4(RAB3GAP2):c.112C>T (p.Pro38Ser)	SNV Germline	Chr1:220272226	Conflicting classifications of pathogenicity	Condition: not provided Warburg micro syndrome 2 Martsolf syndrome RAB3GAP2-related disorder	Criteria Provided Conflicting Classifications	CA1403147	rs_138796052	4 SubmittersRCV000945958 RCV001488859 RCV004543544
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter)	SNV Germline	Chr2:135115292	Pathogenic	Warburg micro syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1884572	rs_764260054	4 SubmittersRCV000985081 RCV001858612
NM_012233.3(RAB3GAP1):c.1555-1G>A	SNV Germline	Chr2:135135563	Pathogenic	Warburg micro syndrome 1	Criteria Provided Single Submitter	CA348576508	rs_1573584395	1 SubmittersRCV000984501
NM_012414.4(RAB3GAP2):c.2922T>A (p.Gly974=)	SNV Germline	Chr1:220167560	Conflicting classifications of pathogenicity	Martsolf syndrome Warburg micro syndrome 2 Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Conflicting Classifications	CA423262131	rs_1437597491	2 SubmittersRCV001096985 RCV001096984 RCV003769046
NM_012414.4(RAB3GAP2):c.1608C>T (p.Asn536=)	SNV Germline	Chr1:220190400	Conflicting classifications of pathogenicity	Warburg micro syndrome 2 Martsolf syndrome Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Conflicting Classifications	CA1402668	rs_756886302	2 SubmittersRCV001098835 RCV001098836 RCV002069663
NM_012414.4(RAB3GAP2):c.2981-7C>T	SNV Germline	Chr1:220167406	Conflicting classifications of pathogenicity	Warburg micro syndrome 2 Martsolf syndrome Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Conflicting Classifications	CA1402287	rs_750436297	2 SubmittersRCV001096982 RCV001096983 RCV002069634
NM_012414.4(RAB3GAP2):c.960+13T>G	SNV Germline	Chr1:220196237	Conflicting classifications of pathogenicity	Martsolf syndrome Warburg micro syndrome 2 Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Conflicting Classifications	CA1402820	rs_202020014	2 SubmittersRCV001098939 RCV001098938 RCV003769058
NM_012414.4(RAB3GAP2):c.613-14T>A	SNV Germline	Chr1:220206020	Conflicting classifications of pathogenicity	Martsolf syndrome Warburg micro syndrome 2 Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Conflicting Classifications	CA1402950	rs_374690916	2 SubmittersRCV001100753 RCV001100752 RCV002067767
NM_021252.5(RAB18):c.*419G>A	SNV Germline	Chr10:27538470	Conflicting classifications of pathogenicity	Condition: not provided Warburg micro syndrome 3	Criteria Provided Conflicting Classifications	CA5452471	rs_569311945	2 SubmittersRCV002511040 RCV001105253
NM_012233.3(RAB3GAP1):c.*255T>G	SNV Germline	Chr2:135169036	Conflicting classifications of pathogenicity	Warburg micro syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA56587933	rs_7564566	2 SubmittersRCV001133431 RCV001550171
NM_012233.3(RAB3GAP1):c.1552C>T (p.Gln518Ter)	SNV Germline	Chr2:135135317	Pathogenic	Warburg micro syndrome 1	No Assertion Criteria Provided	CA348576440	rs_1691647986	1 SubmittersRCV001352678
NM_012414.4(RAB3GAP2):c.511-7C>T	SNV Germline	Chr1:220210496	Conflicting classifications of pathogenicity	Warburg micro syndrome 2 Martsolf syndrome Warburg micro syndrome 2	Criteria Provided Conflicting Classifications	CA1402983	rs_748684063	2 SubmittersRCV001491857 RCV002471110
NM_012414.4(RAB3GAP2):c.2176A>G (p.Ile726Val)	SNV Germline	Chr1:220182754	Conflicting classifications of pathogenicity	Condition: not provided Martsolf syndrome Warburg micro syndrome 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1402495	rs_148513462	3 SubmittersRCV001548412 RCV002032576 RCV002570680
NM_012414.4(RAB3GAP2):c.33C>G (p.Phe11Leu)	SNV Germline	Chr1:220272305	Conflicting classifications of pathogenicity	Condition: not provided Warburg micro syndrome 2 Martsolf syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA344734725	rs_1446997240	3 SubmittersRCV001571507 RCV001882680 RCV005262522
NM_012414.4(RAB3GAP2):c.2282C>T (p.Ser761Leu)	SNV Germline	Chr1:220182285	Conflicting classifications of pathogenicity	Condition: not provided Warburg micro syndrome 2 Martsolf syndrome RAB3GAP2-related disorder	Criteria Provided Conflicting Classifications	CA1402472	rs_562096116	3 SubmittersRCV001658940 RCV002073065 RCV004542062
NM_012233.3(RAB3GAP1):c.1199C>G (p.Ser400Ter)	SNV Germline	Chr2:135130684	Likely pathogenic	Warburg micro syndrome 1	Criteria Provided Single Submitter	CA348574334	rs_2104943498	1 SubmittersRCV001823456
NM_012414.4(RAB3GAP2):c.1998+1G>A	SNV Germline	Chr1:220184035	Pathogenic	Martsolf syndrome Warburg micro syndrome 2	Criteria Provided Single Submitter	CA344643224	rs_2102866054	1 SubmittersRCV001987114
NM_012233.3(RAB3GAP1):c.519G>A (p.Trp173Ter)	SNV Germline	Chr2:135115252	Pathogenic	Condition: not provided Warburg micro syndrome 1 Martsolf syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA348567088	rs_2104916488	2 SubmittersRCV002269439 RCV005397356
NM_012414.4(RAB3GAP2):c.694C>T (p.Arg232Ter)	SNV Germline	Chr1:220205925	Pathogenic	Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Single Submitter	CA1402934	rs_529653924	1 SubmittersRCV002607764
NM_012414.4(RAB3GAP2):c.3940C>T (p.His1314Tyr)	SNV Germline	Chr1:220151692	Conflicting classifications of pathogenicity	Warburg micro syndrome 2 Martsolf syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1402000	rs_368839721	2 SubmittersRCV002885737 RCV002885738
NM_012414.4(RAB3GAP2):c.1040+1G>T	SNV Germline	Chr1:220195297	Likely pathogenic	Warburg micro syndrome 2	Criteria Provided Single Submitter	CA344646798	rs_2528690308	1 SubmittersRCV003130900
NM_012233.3(RAB3GAP1):c.1174C>T (p.Arg392Ter)	SNV Germline	Chr2:135130659	Pathogenic	Condition: not provided Warburg micro syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA1884767	rs_779312077	3 SubmittersRCV003137195 RCV003152814
NM_012233.3(RAB3GAP1):c.2853C>G (p.Tyr951Ter)	SNV Germline	Chr2:135168688	Pathogenic	Warburg micro syndrome 1	Criteria Provided Single Submitter	CA348588950	rs_1573623087	1 SubmittersRCV003485936
NM_012414.4(RAB3GAP2):c.1715-1G>A	SNV Germline	Chr1:220189768	Likely pathogenic	Warburg micro syndrome 2 Martsolf syndrome	Criteria Provided Single Submitter	CA344644777	rs_1369360268	1 SubmittersRCV003803561
NM_012233.3(RAB3GAP1):c.2710-1G>A	SNV Germline	Chr2:135168544	Pathogenic	Warburg micro syndrome 1	Criteria Provided Single Submitter	CA348588288	rs_2468291953	1 SubmittersRCV003984998
NM_012414.4(RAB3GAP2):c.359G>A (p.Trp120Ter)	SNV Germline	Chr1:220212914	Likely pathogenic	Warburg micro syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV004698747
NM_021252.5(RAB18):c.272C>T (p.Thr91Ile)	SNV Germline	Chr10:27533747	Likely pathogenic	Warburg micro syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV005255868
NM_144628.4(TBC1D20):c.474C>T (p.Gly158=)	SNV Germline	Chr20:441907	Pathogenic	Warburg micro syndrome 4	Criteria Provided Single Submitter			1 SubmittersRCV005431039

NM_012233.3(RAB3GAP1):c.649-2A>G

SNV
Germline

Chr2:135120817

Pathogenic

Warburg micro syndrome 1

No Assertion Criteria Provided

CA118599

rs_730882183

2 SubmittersRCV000007473

NM_012233.3(RAB3GAP1):c.748+1G>A

SNV
Germline

Chr2:135120919

Pathogenic

Warburg micro syndrome 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA118600

rs_587776651

10 SubmittersRCV000007474 RCV000578621 RCV002512875

NM_012233.3(RAB3GAP1):c.2011C>T (p.Arg671Ter)

SNV
Germline

Chr2:135150456

Pathogenic

Warburg micro syndrome 1

No Assertion Criteria Provided

CA118601

rs_137853052

1 SubmittersRCV000007475

NM_012233.3(RAB3GAP1):c.1734G>A (p.Trp578Ter)

SNV
Germline

Chr2:135135743

Pathogenic

Warburg micro syndrome 1

No Assertion Criteria Provided

CA118603

rs_137853053

1 SubmittersRCV000007476

NM_012233.3(RAB3GAP1):c.1410C>A (p.Tyr470Ter)

SNV
Germline

Chr2:135133944

Pathogenic

Warburg micro syndrome 1

No Assertion Criteria Provided

CA118605

rs_267606996

1 SubmittersRCV000007477

NM_021252.5(RAB18):c.71T>A (p.Leu24Gln)

SNV
Germline

Chr10:27509877

Pathogenic

Warburg micro syndrome 3

No Assertion Criteria Provided

CA129062

rs_387906832

2 SubmittersRCV000023171

NM_021252.5(RAB18):c.619T>C (p.Ter207Gln)

SNV
Germline

Chr10:27538049

Pathogenic

Warburg micro syndrome 3

Criteria Provided
Single Submitter

CA129065

rs_387906833

3 SubmittersRCV000023174

NM_021252.5(RAB18):c.284C>G (p.Thr95Arg)

SNV
Germline

Chr10:27533759

Pathogenic

Warburg micro syndrome 3

No Assertion Criteria Provided

CA150633

rs_587777151

2 SubmittersRCV000087132

NM_012233.3(RAB3GAP1):c.899+1G>A

SNV
Germline

Chr2:135126250

Pathogenic

Warburg micro syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA150635

rs_587777152

5 SubmittersRCV000087133 RCV000520187

NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro)

SNV
Germline

Chr2:135052463

Pathogenic

Warburg micro syndrome 1

No Assertion Criteria Provided

CA150637

rs_587777154

2 SubmittersRCV000087135

NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val)

SNV
Germline

Chr2:135052482

Pathogenic

Warburg micro syndrome 1

No Assertion Criteria Provided

CA150639

rs_587777155

2 SubmittersRCV000087136

NM_144628.4(TBC1D20):c.199C>T (p.Arg67Ter)

SNV
Germline

Chr20:447946

Pathogenic

Warburg micro syndrome 4

No Assertion Criteria Provided

CA150642

rs_587777157

1 SubmittersRCV000087138

NM_144628.4(TBC1D20):c.292C>T (p.Gln98Ter)

SNV
Germline

Chr20:445095

Pathogenic

Warburg micro syndrome 4

No Assertion Criteria Provided

CA150644

rs_587777158

1 SubmittersRCV000087139

NM_144628.4(TBC1D20):c.672G>A (p.Trp224Ter)

SNV
Germline

Chr20:440344

Pathogenic

Warburg micro syndrome 4

No Assertion Criteria Provided

CA150647

rs_587777160

1 SubmittersRCV000087141

NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)

SNV
Germline

Chr1:220191279

Pathogenic/Likely pathogenic

Martsolf syndrome
Warburg micro syndrome 2
Martsolf syndrome
Martsolf syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA150652

rs_587777167

5 SubmittersRCV000087150 RCV000850507 RCV001807041

NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter)

SNV
Germline

Chr1:220191121

Pathogenic

Warburg micro syndrome 2

No Assertion Criteria Provided

CA150654

rs_587777168

1 SubmittersRCV000087151

NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter)

SNV
Germline

Chr1:220153976

Pathogenic

Warburg micro syndrome 2
See cases

Criteria Provided
Single Submitter

CA150656

rs_587777169

2 SubmittersRCV000087152 RCV002251979

NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter)

SNV
Germline

Chr1:220167295

Pathogenic

Warburg micro syndrome 2

No Assertion Criteria Provided

CA150658

rs_587777170

1 SubmittersRCV000087153

NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=)

SNV
Germline

Chr1:220202313

Conflicting classifications of pathogenicity

Condition: not provided
Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Conflicting Classifications

CA231434

rs_576411922

2 SubmittersRCV000118100 RCV000553551

NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)

SNV
Germline

Chr2:135130030

Pathogenic

Condition: not provided
Warburg micro syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA236072

rs_766629205

3 SubmittersRCV000171306 RCV000985082

NM_012414.4(RAB3GAP2):c.713-2A>G

SNV
Germline

Chr1:220202376

Conflicting classifications of pathogenicity

Warburg micro syndrome 2
Condition: not provided
Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Conflicting Classifications

CA204576

rs_797045103

3 SubmittersRCV000190619 RCV000578596 RCV002514086

NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)

SNV
Germline

Chr1:220151373

Conflicting classifications of pathogenicity

not specified
Martsolf syndrome
Warburg micro syndrome 2
Warburg micro syndrome 2
Martsolf syndrome
RAB3GAP2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206092

rs_59190330

8 SubmittersRCV000192933 RCV001096880 RCV001096881 RCV000638451 RCV004530142 RCV001721259

NM_012414.4(RAB3GAP2):c.3525C>T (p.Thr1175=)

SNV
Germline

Chr1:220157300

Conflicting classifications of pathogenicity

not specified
Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Conflicting Classifications

CA207010

rs_145701892

2 SubmittersRCV000193489 RCV001500500

NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val)

SNV
Germline

Chr1:220182922

Conflicting classifications of pathogenicity

Warburg micro syndrome 2
Martsolf syndrome
not specified
Warburg micro syndrome 2
Martsolf syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206883

rs_201613456

4 SubmittersRCV000299268 RCV000393027 RCV000193412 RCV000877111 RCV001705085

NM_012414.4(RAB3GAP2):c.504C>T (p.Tyr168=)

SNV
Germline

Chr1:220210807

Conflicting classifications of pathogenicity

not specified
Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Conflicting Classifications

CA208889

rs_778754576

2 SubmittersRCV000194613 RCV002054276

NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter)

SNV
Germline

Chr2:135164629

Pathogenic

Warburg micro syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA208389

rs_797045905

2 SubmittersRCV000194301

NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe)

SNV
Germline

Chr1:220182277

Conflicting classifications of pathogenicity

Condition: not provided
Warburg micro syndrome 2
Martsolf syndrome
not specified
Martsolf syndrome
Warburg micro syndrome 2
RAB3GAP2-related disorder

Criteria Provided
Conflicting Classifications

CA1402470

rs_139337049

8 SubmittersRCV000224837 RCV000283527 RCV000347930 RCV000502830 RCV000528699 RCV004541363

NM_012414.4(RAB3GAP2):c.3702C>T (p.Val1234=)

SNV
Germline

Chr1:220153350

Conflicting classifications of pathogenicity

Condition: not provided
Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Conflicting Classifications

CA1402055

rs_137897304

2 SubmittersRCV000281351 RCV001078896

NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys)

SNV
Germline

Chr1:220153210

Conflicting classifications of pathogenicity

Condition: not provided
Warburg micro syndrome 2
Martsolf syndrome
RAB3GAP2-related disorder

Criteria Provided
Conflicting Classifications

CA1402036

rs_34081806

5 SubmittersRCV000658150 RCV001078526 RCV004543099

NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg)

SNV
Germline

Chr1:220164744

Conflicting classifications of pathogenicity

Martsolf syndrome
Warburg micro syndrome 2
Warburg micro syndrome 2
Martsolf syndrome
Condition: not provided
RAB3GAP2-related disorder
Warburg micro syndrome 2
Martsolf syndrome 1

Criteria Provided
Conflicting Classifications

CA1402236

rs_151244742

5 SubmittersRCV000278970 RCV000343307 RCV001459064 RCV000952485 RCV004537642 RCV005008272

NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu)

SNV
Germline

Chr1:220182762

Conflicting classifications of pathogenicity

Warburg micro syndrome 2
Martsolf syndrome
Warburg micro syndrome 2
Martsolf syndrome
not specified
RAB3GAP2-related disorder

Criteria Provided
Conflicting Classifications

CA1402497

rs_150643803

4 SubmittersRCV000289408 RCV000383731 RCV000540400 RCV000612262 RCV004543161

NM_012414.4(RAB3GAP2):c.3867+13C>T

SNV
Germline

Chr1:220153172

Conflicting classifications of pathogenicity

not specified
Warburg micro syndrome 2
Martsolf syndrome
Warburg micro syndrome 2
Martsolf syndrome
RAB3GAP2-related disorder

Criteria Provided
Conflicting Classifications

CA1402033

rs_200579008

4 SubmittersRCV000429789 RCV000365983 RCV000271419 RCV002059431 RCV004537641

NM_012414.4(RAB3GAP2):c.3868-8A>G

SNV
Germline

Chr1:220151772

Conflicting classifications of pathogenicity

Warburg micro syndrome 2
Martsolf syndrome
Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Conflicting Classifications

CA10610152

rs_886046018

2 SubmittersRCV000301829 RCV000404770 RCV003765718

NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=)

SNV
Germline

Chr1:220157435

Conflicting classifications of pathogenicity

Warburg micro syndrome 2
Martsolf syndrome
Martsolf syndrome
Warburg micro syndrome 2
Condition: not provided
not specified
RAB3GAP2-related disorder

Criteria Provided
Conflicting Classifications

CA1402130

rs_140377995

7 SubmittersRCV000282429 RCV000386137 RCV000874216 RCV001711771 RCV000419048 RCV004734949

NM_012414.4(RAB3GAP2):c.2538T>G (p.Ser846=)

SNV
Germline

Chr1:220171928

Conflicting classifications of pathogenicity

Warburg micro syndrome 2
Martsolf syndrome
Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Conflicting Classifications

CA1402392

rs_368216093

2 SubmittersRCV000275636 RCV000370134 RCV002519494

NM_012414.4(RAB3GAP2):c.1131-4T>C

SNV
Germline

Chr1:220193383

Conflicting classifications of pathogenicity

Warburg micro syndrome 2
Martsolf syndrome
Warburg micro syndrome 2
Martsolf syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1402752

rs_752780415

3 SubmittersRCV000391817 RCV000304830 RCV002520417 RCV002520418

NM_012233.3(RAB3GAP1):c.239T>C (p.Val80Ala)

SNV
Germline

Chr2:135091086

Conflicting classifications of pathogenicity

Warburg micro syndrome 1
RAB3GAP1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1884467

rs_767842373

3 SubmittersRCV000322579 RCV004544606 RCV002521286

NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=)

SNV
Germline

Chr2:135113199

Conflicting classifications of pathogenicity

Warburg micro syndrome 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1884526

rs_140929274

8 SubmittersRCV000320057 RCV000712892 RCV000433020

NM_021252.5(RAB18):c.36C>A (p.Leu12=)

SNV
Germline

Chr10:27504405

Conflicting classifications of pathogenicity

Warburg micro syndrome 3
Condition: not provided
RAB18-related disorder

Criteria Provided
Conflicting Classifications

CA5452103

rs_61757825

3 SubmittersRCV000300444 RCV002059548 RCV003977864

NM_012233.3(RAB3GAP1):c.1268C>G (p.Pro423Arg)

SNV
Germline

Chr2:135132926

Conflicting classifications of pathogenicity

Warburg micro syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1884799

rs_143010678

3 SubmittersRCV001134799 RCV000945862

NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val)

SNV
Germline

Chr1:220191149

Conflicting classifications of pathogenicity

not specified
Warburg micro syndrome 2
Condition: not provided
Martsolf syndrome
Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Conflicting Classifications

CA1402705

rs_151225064

4 SubmittersRCV000501400 RCV001100653 RCV001813785 RCV001100652 RCV003766847

NM_012414.4(RAB3GAP2):c.173A>C (p.Gln58Pro)

SNV
Germline

Chr1:220232806

Conflicting classifications of pathogenicity

Condition: not provided
Martsolf syndrome
Warburg micro syndrome 2

Criteria Provided
Conflicting Classifications

CA1403114

rs_111859466

2 SubmittersRCV000523969 RCV002060275

NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter)

SNV
Germline

Chr2:135130060

Pathogenic

Warburg micro syndrome 1
Condition: not provided
Warburg micro syndrome 1
Martsolf syndrome 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA1884736

rs_532964185

6 SubmittersRCV000656360 RCV001855346 RCV002507142 RCV005470484

NM_012233.3(RAB3GAP1):c.469G>T (p.Gly157Ter)

SNV
Germline

Chr2:135113257

Pathogenic

Warburg micro syndrome 1

Criteria Provided
Single Submitter

CA348566963

rs_1558782178

1 SubmittersRCV000680080

NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter)

SNV
Germline

Chr2:135132968

Pathogenic

Warburg micro syndrome 1

Criteria Provided
Single Submitter

CA348575080

rs_1558792256

1 SubmittersRCV000679853

NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter)

SNV
Germline

Chr2:135162847

Conflicting classifications of pathogenicity

Condition: not provided
Warburg micro syndrome 1

No Assertion Criteria Provided

CA348585962

rs_1558805781

2 SubmittersRCV000722877 RCV001352686

NM_012233.3(RAB3GAP1):c.1237-2A>G

SNV
Unknown

Chr2:135132893

Pathogenic

Warburg micro syndrome 1

Criteria Provided
Single Submitter

CA348574727

rs_1558792168

1 SubmittersRCV000761455

NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter)

SNV
Unknown

Chr2:135162986

Pathogenic

Warburg micro syndrome 1

Criteria Provided
Single Submitter

CA348586017

rs_1558805900

1 SubmittersRCV000761456

NM_012233.3(RAB3GAP1):c.1908C>G (p.Tyr636Ter)

SNV
Germline

Chr2:135135917

Pathogenic

Warburg micro syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA348578280

rs_1573585099

2 SubmittersRCV000790401 RCV001091553

NM_012414.4(RAB3GAP2):c.3757C>T (p.Pro1253Ser)

SNV
Germline

Chr1:220153295

Conflicting classifications of pathogenicity

Condition: not provided
Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Conflicting Classifications

CA1402048

rs_564016323

2 SubmittersRCV000836068 RCV002538283

NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr)

SNV
Germline

Chr1:220153997

Conflicting classifications of pathogenicity

Martsolf syndrome
Warburg micro syndrome 2
Amenorrhea
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1402084

rs_139407102

3 SubmittersRCV000876115 RCV001849462 RCV002285426

NM_012414.4(RAB3GAP2):c.3294T>C (p.Ser1098=)

SNV
Germline

Chr1:220157844

Conflicting classifications of pathogenicity

Martsolf syndrome
Warburg micro syndrome 2
Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Conflicting Classifications

CA1402168

rs_368788359

2 SubmittersRCV001102386 RCV001102387 RCV000946166

NM_012414.4(RAB3GAP2):c.112C>T (p.Pro38Ser)

SNV
Germline

Chr1:220272226

Conflicting classifications of pathogenicity

Condition: not provided
Warburg micro syndrome 2
Martsolf syndrome
RAB3GAP2-related disorder

Criteria Provided
Conflicting Classifications

CA1403147

rs_138796052

4 SubmittersRCV000945958 RCV001488859 RCV004543544

NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter)

SNV
Germline

Chr2:135115292

Pathogenic

Warburg micro syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1884572

rs_764260054

4 SubmittersRCV000985081 RCV001858612

NM_012233.3(RAB3GAP1):c.1555-1G>A

SNV
Germline

Chr2:135135563

Pathogenic

Warburg micro syndrome 1

Criteria Provided
Single Submitter

CA348576508

rs_1573584395

1 SubmittersRCV000984501

NM_012414.4(RAB3GAP2):c.2922T>A (p.Gly974=)

SNV
Germline

Chr1:220167560

Conflicting classifications of pathogenicity

Martsolf syndrome
Warburg micro syndrome 2
Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Conflicting Classifications

CA423262131

rs_1437597491

2 SubmittersRCV001096985 RCV001096984 RCV003769046

NM_012414.4(RAB3GAP2):c.1608C>T (p.Asn536=)

SNV
Germline

Chr1:220190400

Conflicting classifications of pathogenicity

Warburg micro syndrome 2
Martsolf syndrome
Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Conflicting Classifications

CA1402668

rs_756886302

2 SubmittersRCV001098835 RCV001098836 RCV002069663

NM_012414.4(RAB3GAP2):c.2981-7C>T

SNV
Germline

Chr1:220167406

Conflicting classifications of pathogenicity

Warburg micro syndrome 2
Martsolf syndrome
Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Conflicting Classifications

CA1402287

rs_750436297

2 SubmittersRCV001096982 RCV001096983 RCV002069634

NM_012414.4(RAB3GAP2):c.960+13T>G

SNV
Germline

Chr1:220196237

Conflicting classifications of pathogenicity

Martsolf syndrome
Warburg micro syndrome 2
Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Conflicting Classifications

CA1402820

rs_202020014

2 SubmittersRCV001098939 RCV001098938 RCV003769058

NM_012414.4(RAB3GAP2):c.613-14T>A

SNV
Germline

Chr1:220206020

Conflicting classifications of pathogenicity

Martsolf syndrome
Warburg micro syndrome 2
Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Conflicting Classifications

CA1402950

rs_374690916

2 SubmittersRCV001100753 RCV001100752 RCV002067767

NM_021252.5(RAB18):c.*419G>A

SNV
Germline

Chr10:27538470

Conflicting classifications of pathogenicity

Condition: not provided
Warburg micro syndrome 3

Criteria Provided
Conflicting Classifications

CA5452471

rs_569311945

2 SubmittersRCV002511040 RCV001105253

NM_012233.3(RAB3GAP1):c.*255T>G

SNV
Germline

Chr2:135169036

Conflicting classifications of pathogenicity

Warburg micro syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA56587933

rs_7564566

2 SubmittersRCV001133431 RCV001550171

NM_012233.3(RAB3GAP1):c.1552C>T (p.Gln518Ter)

SNV
Germline

Chr2:135135317

Pathogenic

Warburg micro syndrome 1

No Assertion Criteria Provided

CA348576440

rs_1691647986

1 SubmittersRCV001352678

NM_012414.4(RAB3GAP2):c.511-7C>T

SNV
Germline

Chr1:220210496

Conflicting classifications of pathogenicity

Warburg micro syndrome 2
Martsolf syndrome
Warburg micro syndrome 2

Criteria Provided
Conflicting Classifications

CA1402983

rs_748684063

2 SubmittersRCV001491857 RCV002471110

NM_012414.4(RAB3GAP2):c.2176A>G (p.Ile726Val)

SNV
Germline

Chr1:220182754

Conflicting classifications of pathogenicity

Condition: not provided
Martsolf syndrome
Warburg micro syndrome 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1402495

rs_148513462

3 SubmittersRCV001548412 RCV002032576 RCV002570680

NM_012414.4(RAB3GAP2):c.33C>G (p.Phe11Leu)

SNV
Germline

Chr1:220272305

Conflicting classifications of pathogenicity

Condition: not provided
Warburg micro syndrome 2
Martsolf syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA344734725

rs_1446997240

3 SubmittersRCV001571507 RCV001882680 RCV005262522

NM_012414.4(RAB3GAP2):c.2282C>T (p.Ser761Leu)

SNV
Germline

Chr1:220182285

Conflicting classifications of pathogenicity

Condition: not provided
Warburg micro syndrome 2
Martsolf syndrome
RAB3GAP2-related disorder

Criteria Provided
Conflicting Classifications

CA1402472

rs_562096116

3 SubmittersRCV001658940 RCV002073065 RCV004542062

NM_012233.3(RAB3GAP1):c.1199C>G (p.Ser400Ter)

SNV
Germline

Chr2:135130684

Likely pathogenic

Warburg micro syndrome 1

Criteria Provided
Single Submitter

CA348574334

rs_2104943498

1 SubmittersRCV001823456

NM_012414.4(RAB3GAP2):c.1998+1G>A

SNV
Germline

Chr1:220184035

Pathogenic

Martsolf syndrome
Warburg micro syndrome 2

Criteria Provided
Single Submitter

CA344643224

rs_2102866054

1 SubmittersRCV001987114

NM_012233.3(RAB3GAP1):c.519G>A (p.Trp173Ter)

SNV
Germline

Chr2:135115252

Pathogenic

Condition: not provided
Warburg micro syndrome 1
Martsolf syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348567088

rs_2104916488

2 SubmittersRCV002269439 RCV005397356

NM_012414.4(RAB3GAP2):c.694C>T (p.Arg232Ter)

SNV
Germline

Chr1:220205925

Pathogenic

Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Single Submitter

CA1402934

rs_529653924

1 SubmittersRCV002607764

NM_012414.4(RAB3GAP2):c.3940C>T (p.His1314Tyr)

SNV
Germline

Chr1:220151692

Conflicting classifications of pathogenicity

Warburg micro syndrome 2
Martsolf syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1402000

rs_368839721

2 SubmittersRCV002885737 RCV002885738

NM_012414.4(RAB3GAP2):c.1040+1G>T

SNV
Germline

Chr1:220195297

Likely pathogenic

Warburg micro syndrome 2

Criteria Provided
Single Submitter

CA344646798

rs_2528690308

1 SubmittersRCV003130900

NM_012233.3(RAB3GAP1):c.1174C>T (p.Arg392Ter)

SNV
Germline

Chr2:135130659

Pathogenic

Condition: not provided
Warburg micro syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1884767

rs_779312077

3 SubmittersRCV003137195 RCV003152814

NM_012233.3(RAB3GAP1):c.2853C>G (p.Tyr951Ter)

SNV
Germline

Chr2:135168688

Pathogenic

Warburg micro syndrome 1

Criteria Provided
Single Submitter

CA348588950

rs_1573623087

1 SubmittersRCV003485936

NM_012414.4(RAB3GAP2):c.1715-1G>A

SNV
Germline

Chr1:220189768

Likely pathogenic

Warburg micro syndrome 2
Martsolf syndrome

Criteria Provided
Single Submitter

CA344644777

rs_1369360268

1 SubmittersRCV003803561

NM_012233.3(RAB3GAP1):c.2710-1G>A

SNV
Germline

Chr2:135168544

Pathogenic

Warburg micro syndrome 1

Criteria Provided
Single Submitter

CA348588288

rs_2468291953

1 SubmittersRCV003984998

NM_012414.4(RAB3GAP2):c.359G>A (p.Trp120Ter)

SNV
Germline

Chr1:220212914

Likely pathogenic

Warburg micro syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV004698747

NM_021252.5(RAB18):c.272C>T (p.Thr91Ile)

SNV
Germline

Chr10:27533747

Likely pathogenic

Warburg micro syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005255868

NM_144628.4(TBC1D20):c.474C>T (p.Gly158=)

SNV
Germline

Chr20:441907

Pathogenic

Warburg micro syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005431039