Total 107 pathogenic variants reported for Warburg micro syndrome 
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

9 SubmittersRCV000007474RCV000578621RCV002512875
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 SubmittersRCV000087133RCV000520187
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
Martsolf syndrome
Warburg micro syndrome 2
Martsolf syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA150652 rs_587777167

5 SubmittersRCV000087150RCV000850507RCV001807041
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 SubmittersRCV000087152RCV002251979
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 SubmittersRCV000118100RCV000553551
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) SNV
Germline		 Chr2:135130030 Pathogenic/Likely pathogenic Condition: not provided
Warburg micro syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA236072 rs_766629205

4 SubmittersRCV000171306RCV000985082
NM_012414.4(RAB3GAP2):c.713-2A>G SNV
Germline		 Chr1:220202376 Conflicting classifications of pathogenicity Warburg micro syndrome 2
Condition: not provided
Martsolf syndrome
Warburg micro syndrome 2		 Criteria Provided
Conflicting Classifications
 CA204576 rs_797045103

3 SubmittersRCV000190619RCV000578596RCV002514086
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) SNV
Germline		 Chr1:220151373 Conflicting classifications of pathogenicity not specified
Warburg micro syndrome 2
Martsolf syndrome
Martsolf syndrome
Warburg micro syndrome 2
Condition: not provided
RAB3GAP2-related disorder		 Criteria Provided
Conflicting Classifications
 CA206092 rs_59190330

8 SubmittersRCV000192933RCV000638451RCV001096880RCV001096881RCV001721259RCV004530142
NM_012414.4(RAB3GAP2):c.3525C>T (p.Thr1175=) SNV
Germline		 Chr1:220157300 Conflicting classifications of pathogenicity not specified
Martsolf syndrome
Warburg micro syndrome 2		 Criteria Provided
Conflicting Classifications
 CA207010 rs_145701892

2 SubmittersRCV000193489RCV001500500
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) SNV
Germline		 Chr1:220182922 Conflicting classifications of pathogenicity not specified
Warburg micro syndrome 2
Martsolf syndrome
Martsolf syndrome
Warburg micro syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA206883 rs_201613456

4 SubmittersRCV000193412RCV000299268RCV000393027RCV000877111RCV001705085
NM_012414.4(RAB3GAP2):c.504C>T (p.Tyr168=) SNV
Germline		 Chr1:220210807 Conflicting classifications of pathogenicity not specified
Martsolf syndrome
Warburg micro syndrome 2		 Criteria Provided
Conflicting Classifications
 CA208889 rs_778754576

2 SubmittersRCV000194613RCV002054276
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 SubmittersRCV000224837RCV000283527RCV000347930RCV000502830RCV000528699RCV004541363
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 SubmittersRCV000281351RCV001078896
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) SNV
Germline		 Chr1:220153210 Conflicting classifications of pathogenicity Condition: not provided
Martsolf syndrome
Warburg micro syndrome 2
RAB3GAP2-related disorder		 Criteria Provided
Conflicting Classifications
 CA1402036 rs_34081806

5 SubmittersRCV000658150RCV001078526RCV004543099
NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg) SNV
Germline		 Chr1:220164744 Conflicting classifications of pathogenicity Martsolf syndrome
Warburg micro syndrome 2
Condition: not provided
Martsolf syndrome
Warburg micro syndrome 2
RAB3GAP2-related disorder		 Criteria Provided
Conflicting Classifications
 CA1402236 rs_151244742

4 SubmittersRCV000278970RCV000343307RCV000952485RCV001459064RCV004537642
NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu) SNV
Germline		 Chr1:220182762 Conflicting classifications of pathogenicity Warburg micro syndrome 2
Martsolf syndrome
Martsolf syndrome
Warburg micro syndrome 2
not specified
RAB3GAP2-related disorder		 Criteria Provided
Conflicting Classifications
 CA1402497 rs_150643803

4 SubmittersRCV000289408RCV000383731RCV000540400RCV000612262RCV004543161
NM_012414.4(RAB3GAP2):c.3867+13C>T SNV
Germline		 Chr1:220153172 Conflicting classifications of pathogenicity Martsolf syndrome
Warburg micro syndrome 2
not specified
Martsolf syndrome
Warburg micro syndrome 2
RAB3GAP2-related disorder		 Criteria Provided
Conflicting Classifications
 CA1402033 rs_200579008

4 SubmittersRCV000271419RCV000365983RCV000429789RCV002059431RCV004537641
NM_012414.4(RAB3GAP2):c.3868-8A>G SNV
Germline		 Chr1:220151772 Conflicting classifications of pathogenicity Warburg micro syndrome 2
Martsolf syndrome
Martsolf syndrome
Warburg micro syndrome 2		 Criteria Provided
Conflicting Classifications
 CA10610152 rs_886046018

2 SubmittersRCV000301829RCV000404770RCV003765718
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=) SNV
Germline		 Chr1:220157435 Conflicting classifications of pathogenicity Warburg micro syndrome 2
not specified
Martsolf syndrome
Martsolf syndrome
Warburg micro syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1402130 rs_140377995

4 SubmittersRCV000282429RCV000419048RCV000386137RCV000874216RCV001711771
NM_012414.4(RAB3GAP2):c.2538T>G (p.Ser846=) SNV
Germline		 Chr1:220171928 Conflicting classifications of pathogenicity Warburg micro syndrome 2
Martsolf syndrome
Martsolf syndrome
Warburg micro syndrome 2		 Criteria Provided
Conflicting Classifications
 CA1402392 rs_368216093

2 SubmittersRCV000275636RCV000370134RCV002519494
NM_012414.4(RAB3GAP2):c.1131-4T>C SNV
Germline		 Chr1:220193383 Conflicting classifications of pathogenicity Inborn genetic diseases
Warburg micro syndrome 2
Martsolf syndrome
Warburg micro syndrome 2
Martsolf syndrome		 Criteria Provided
Conflicting Classifications
 CA1402752 rs_752780415

3 SubmittersRCV002520418RCV000391817RCV002520417RCV000304830
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 SubmittersRCV000322579RCV004544606RCV002521286
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 SubmittersRCV000320057RCV000712892RCV000433020
NM_021252.5(RAB18):c.270C>A (p.Val90=) SNV
Germline		 Chr10:27533745 Conflicting classifications of pathogenicity Warburg micro syndrome 3
RAB18-related disorder		 Criteria Provided
Conflicting Classifications
 CA5452349 rs_750139202

2 SubmittersRCV000315830RCV003897681
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 SubmittersRCV000300444RCV002059548RCV003977864
NM_012233.3(RAB3GAP1):c.1268C>G (p.Pro423Arg) SNV
Germline		 Chr2:135132926 Conflicting classifications of pathogenicity Condition: not provided
Warburg micro syndrome 1		 Criteria Provided
Conflicting Classifications
 CA1884799 rs_143010678

3 SubmittersRCV000945862RCV001134799
NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val) SNV
Germline		 Chr1:220191149 Conflicting classifications of pathogenicity not specified
Condition: not provided
Martsolf syndrome
Warburg micro syndrome 2
Martsolf syndrome
Warburg micro syndrome 2		 Criteria Provided
Conflicting Classifications
 CA1402705 rs_151225064

4 SubmittersRCV000501400RCV001813785RCV001100652RCV001100653RCV003766847
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 SubmittersRCV000523969RCV002060275
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1884736 rs_532964185

5 SubmittersRCV000656360RCV001855346RCV002507142
NM_012233.3(RAB3GAP1):c.469G>T (p.Gly157Ter) SNV
Germline		 Chr2:135113257 Pathogenic Warburg micro syndrome 1 Criteria Provided
Single Submitter
 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
 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
 rs_1558805781

2 SubmittersRCV000722877RCV001352686
NM_012233.3(RAB3GAP1):c.1237-2A>G SNV
Unknown		 Chr2:135132893 Pathogenic Warburg micro syndrome 1 Criteria Provided
Single Submitter
 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
 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
 rs_1573585099

2 SubmittersRCV000790401RCV001091553
NM_012414.4(RAB3GAP2):c.3757C>T (p.Pro1253Ser) SNV
Germline		 Chr1:220153295 Conflicting classifications of pathogenicity Condition: not provided
Martsolf syndrome
Warburg micro syndrome 2		 Criteria Provided
Conflicting Classifications
 rs_564016323

2 SubmittersRCV000836068RCV002538283
NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr) SNV
Germline		 Chr1:220153997 Conflicting classifications of pathogenicity Martsolf syndrome
Warburg micro syndrome 2
Condition: not provided
Amenorrhea		 Criteria Provided
Conflicting Classifications
 rs_139407102

3 SubmittersRCV000876115RCV002285426RCV001849462
NM_012414.4(RAB3GAP2):c.3294T>C (p.Ser1098=) SNV
Germline		 Chr1:220157844 Conflicting classifications of pathogenicity Martsolf syndrome
Warburg micro syndrome 2
Martsolf syndrome
Warburg micro syndrome 2		 Criteria Provided
Conflicting Classifications
 rs_368788359

2 SubmittersRCV000946166RCV001102386RCV001102387
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
 rs_138796052

4 SubmittersRCV000945958RCV001488859RCV004543544
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
 rs_764260054

4 SubmittersRCV000985081RCV001858612
NM_012233.3(RAB3GAP1):c.1555-1G>A SNV
Germline		 Chr2:135135563 Pathogenic Warburg micro syndrome 1 Criteria Provided
Single Submitter
 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
 rs_1437597491

2 SubmittersRCV001096985RCV001096984RCV003769046
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
 rs_756886302

2 SubmittersRCV001098835RCV001098836RCV002069663
NM_012414.4(RAB3GAP2):c.2981-7C>T SNV
Germline		 Chr1:220167406 Conflicting classifications of pathogenicity Martsolf syndrome
Warburg micro syndrome 2
Warburg micro syndrome 2
Martsolf syndrome		 Criteria Provided
Conflicting Classifications
 rs_750436297

2 SubmittersRCV001096983RCV001096982RCV002069634
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
 rs_202020014

2 SubmittersRCV001098939RCV001098938RCV003769058
NM_012414.4(RAB3GAP2):c.613-14T>A SNV
Germline		 Chr1:220206020 Conflicting classifications of pathogenicity Warburg micro syndrome 2
Martsolf syndrome
Warburg micro syndrome 2
Martsolf syndrome		 Criteria Provided
Conflicting Classifications
 rs_374690916

2 SubmittersRCV001100752RCV001100753RCV002067767
NM_021252.5(RAB18):c.*419G>A SNV
Germline		 Chr10:27538470 Conflicting classifications of pathogenicity Warburg micro syndrome 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_569311945

2 SubmittersRCV001105253RCV002511040
NM_012233.3(RAB3GAP1):c.-4C>T SNV
Germline		 Chr2:135052304 Conflicting classifications of pathogenicity Warburg micro syndrome 1
not specified
RAB3GAP1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_202050016

3 SubmittersRCV001129694RCV001819836RCV004545077
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
 rs_7564566

2 SubmittersRCV001133431RCV001550171
NM_012233.3(RAB3GAP1):c.1552C>T (p.Gln518Ter) SNV
Germline		 Chr2:135135317 Pathogenic Warburg micro syndrome 1 No Assertion Criteria Provided
 rs_1691647986

1 SubmittersRCV001352678
NM_012414.4(RAB3GAP2):c.511-7C>T SNV
Germline		 Chr1:220210496 Conflicting classifications of pathogenicity Martsolf syndrome
Warburg micro syndrome 2
Warburg micro syndrome 2		 Criteria Provided
Conflicting Classifications
 rs_748684063

2 SubmittersRCV001491857RCV002471110
NM_012414.4(RAB3GAP2):c.2176A>G (p.Ile726Val) SNV
Germline		 Chr1:220182754 Conflicting classifications of pathogenicity Condition: not provided
Warburg micro syndrome 2
Martsolf syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_148513462

3 SubmittersRCV001548412RCV002032576RCV002570680
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		 Criteria Provided
Conflicting Classifications
 rs_1446997240

2 SubmittersRCV001571507RCV001882680
NM_012414.4(RAB3GAP2):c.2282C>T (p.Ser761Leu) SNV
Germline		 Chr1:220182285 Conflicting classifications of pathogenicity Condition: not provided
Martsolf syndrome
Warburg micro syndrome 2
RAB3GAP2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_562096116

3 SubmittersRCV001658940RCV002073065RCV004542062
NM_012233.3(RAB3GAP1):c.1199C>G (p.Ser400Ter) SNV
Germline		 Chr2:135130684 Likely pathogenic Warburg micro syndrome 1 Criteria Provided
Single Submitter
 rs_2104943498

1 SubmittersRCV001823456
NM_012414.4(RAB3GAP2):c.1998+1G>A SNV
Germline		 Chr1:220184035 Pathogenic Warburg micro syndrome 2
Martsolf syndrome		 Criteria Provided
Single Submitter
 rs_2102866054

1 SubmittersRCV001987114
NM_012414.4(RAB3GAP2):c.694C>T (p.Arg232Ter) SNV
Germline		 Chr1:220205925 Pathogenic Martsolf syndrome
Warburg micro syndrome 2		 Criteria Provided
Single Submitter

1 SubmittersRCV002607764
NM_012414.4(RAB3GAP2):c.3940C>T (p.His1314Tyr) SNV
Germline		 Chr1:220151692 Conflicting classifications of pathogenicity Martsolf syndrome
Warburg micro syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002885737RCV002885738
NM_012414.4(RAB3GAP2):c.1040+1G>T SNV
Germline		 Chr1:220195297 Likely pathogenic Warburg micro syndrome 2 Criteria Provided
Single Submitter

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

3 SubmittersRCV003137195RCV003152814
NM_012233.3(RAB3GAP1):c.2853C>G (p.Tyr951Ter) SNV
Germline		 Chr2:135168688 Pathogenic Warburg micro syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003485936
NM_012414.4(RAB3GAP2):c.1715-1G>A SNV
Germline		 Chr1:220189768 Likely pathogenic Martsolf syndrome
Warburg micro syndrome 2		 Criteria Provided
Single Submitter

1 SubmittersRCV003803561
NM_012233.3(RAB3GAP1):c.2710-1G>A SNV
Germline		 Chr2:135168544 Pathogenic Warburg micro syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003984998