Total 108 pathogenic variants reported for 3M syndrome 2 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_015311.3(OBSL1):c.1149C>A (p.Cys383Ter) SNV
Germline		 Chr2:219568188 Pathogenic 3M syndrome 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA251672 rs_121918215

2 SubmittersRCV000001101RCV001851526
NM_015311.3(OBSL1):c.1465C>T (p.Arg489Ter) SNV
Germline		 Chr2:219567787 Pathogenic 3M syndrome 2 No Assertion Criteria Provided
 CA251674 rs_121918216

1 SubmittersRCV000001104
NM_015311.3(OBSL1):c.569C>G (p.Ala190Gly) SNV
Germline		 Chr2:219570664 Conflicting classifications of pathogenicity not specified
Condition: not provided
3M syndrome 2		 Criteria Provided
Conflicting Classifications
 CA200544 rs_148433261

3 SubmittersRCV000173450RCV000894720RCV001136666
NM_015311.3(OBSL1):c.1599G>A (p.Thr533=) SNV
Germline		 Chr2:219567511 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 2		 Criteria Provided
Conflicting Classifications
 CA245351 rs_149009269

3 SubmittersRCV000178302RCV001143129
NM_015311.3(OBSL1):c.397G>C (p.Gly133Arg) SNV
Germline		 Chr2:219570836 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 2
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2131803 rs_556207267

5 SubmittersRCV000386544RCV001136668RCV005238848RCV003372679
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=) SNV
Germline		 Chr2:219556041 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided
OBSL1-related disorder		 Criteria Provided
Conflicting Classifications
 CA2130500 rs_201893489

5 SubmittersRCV000358435RCV000388807RCV003910002
NM_015311.3(OBSL1):c.1912G>A (p.Asp638Asn) SNV
Germline		 Chr2:219567052 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided
OBSL1-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2131375 rs_150250100

4 SubmittersRCV000380871RCV000903662RCV003957723RCV005384699
NM_015311.3(OBSL1):c.1850G>A (p.Arg617His) SNV
Germline		 Chr2:219567114 Conflicting classifications of pathogenicity 3M syndrome 2
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2131392 rs_369705959

3 SubmittersRCV000393642RCV003362760RCV003736728
NM_015311.3(OBSL1):c.4778G>A (p.Arg1593His) SNV
Germline		 Chr2:219554572 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2130432 rs_183413469

3 SubmittersRCV000267131RCV000881106RCV003298391
NM_015311.3(OBSL1):c.4477G>A (p.Asp1493Asn) SNV
Germline		 Chr2:219556152 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided
Inborn genetic diseases
OBSL1-related disorder		 Criteria Provided
Conflicting Classifications
 CA2130531 rs_201032988

5 SubmittersRCV000328536RCV000909499RCV002523115RCV003950154
NM_015311.3(OBSL1):c.2887G>A (p.Glu963Lys) SNV
Germline		 Chr2:219562468 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA2131065 rs_199584687

4 SubmittersRCV000291489RCV000934149RCV002521397RCV003401355
NM_015311.3(OBSL1):c.2085C>T (p.Val695=) SNV
Germline		 Chr2:219566879 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2131338 rs_762452921

2 SubmittersRCV000378080RCV002523116
NM_015311.3(OBSL1):c.1887C>T (p.Asp629=) SNV
Germline		 Chr2:219567077 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10614279 rs_377378051

2 SubmittersRCV000288775RCV002057670
NM_015311.3(OBSL1):c.1035G>A (p.Arg345=) SNV
Germline		 Chr2:219568302 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA2131655 rs_376475182

3 SubmittersRCV000325595RCV000917024RCV004701420
NM_015311.3(OBSL1):c.750C>T (p.Cys250=) SNV
Germline		 Chr2:219570483 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2131746 rs_368349283

2 SubmittersRCV000386091RCV001850807
NM_015311.3(OBSL1):c.593C>A (p.Ala198Glu) SNV
Germline		 Chr2:219570640 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided
Inborn genetic diseases
OBSL1-related disorder		 Criteria Provided
Conflicting Classifications
 CA2131775 rs_186348476

4 SubmittersRCV000279375RCV001510231RCV002521401RCV003922443
NM_015311.3(OBSL1):c.557A>G (p.Asp186Gly) SNV
Germline		 Chr2:219570676 Conflicting classifications of pathogenicity 3M syndrome 2
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10614294 rs_886055667

4 SubmittersRCV000403859RCV002521402RCV001597098
NM_015311.3(OBSL1):c.4941G>T (p.Thr1647=) SNV
Germline		 Chr2:219553622 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2130369 rs_375870998

2 SubmittersRCV000337221RCV002057664
NM_015311.3(OBSL1):c.4440C>T (p.Ala1480=) SNV
Germline		 Chr2:219556189 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2130543 rs_200341414

2 SubmittersRCV000331924RCV001518050
NM_015311.3(OBSL1):c.3852C>T (p.Gly1284=) SNV
Germline		 Chr2:219557557 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided
OBSL1-related disorder		 Criteria Provided
Conflicting Classifications
 CA2130729 rs_533142740

3 SubmittersRCV000261792RCV002057669RCV003972412
NM_015311.3(OBSL1):c.2817G>A (p.Val939=) SNV
Germline		 Chr2:219562538 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2131088 rs_558191826

2 SubmittersRCV000344160RCV002521398
NM_015311.3(OBSL1):c.1590C>T (p.His530=) SNV
Germline		 Chr2:219567520 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2131485 rs_145850612

2 SubmittersRCV000406049RCV002057671
NM_015311.3(OBSL1):c.1317C>T (p.Asp439=) SNV
Germline		 Chr2:219567935 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2131553 rs_201913713

2 SubmittersRCV000305049RCV002521399
NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys) SNV
Germline		 Chr2:219568082 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA2131596 rs_79295927

4 SubmittersRCV000362048RCV000893205RCV003401356
NM_015311.3(OBSL1):c.1151G>A (p.Arg384His) SNV
Germline		 Chr2:219568186 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2131625 rs_199678301

2 SubmittersRCV000322478RCV002521400
NM_015311.3(OBSL1):c.762C>T (p.Thr254=) SNV
Germline		 Chr2:219570471 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2131739 rs_199929590

3 SubmittersRCV000333889RCV000905677
NM_015311.3(OBSL1):c.660G>C (p.Ala220=) SNV
Germline		 Chr2:219570573 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2131769 rs_746864661

2 SubmittersRCV000338034RCV000911283
NM_015311.3(OBSL1):c.4069C>T (p.Pro1357Ser) SNV
Germline		 Chr2:219556721 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 2
not specified		 Criteria Provided
Conflicting Classifications
 CA2130669 rs_200543358

5 SubmittersRCV000482025RCV001138066RCV004701528
NM_015311.3(OBSL1):c.2032C>T (p.Gln678Ter) SNV
Germline		 Chr2:219566932 Pathogenic Condition: not provided
3M syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA66035734 rs_775865076

3 SubmittersRCV000494006RCV005027570
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter) SNV
Germline		 Chr2:219554618 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 2
OBSL1-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA2130441 rs_116131367

8 SubmittersRCV000595636RCV001138381RCV003915688RCV003155242
NM_015311.3(OBSL1):c.2056G>A (p.Val686Ile) SNV
Germline		 Chr2:219566908 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
3M syndrome 2		 Criteria Provided
Conflicting Classifications
 CA2131347 rs_202040862

4 SubmittersRCV000733435RCV002535330RCV004720280
NM_015311.3(OBSL1):c.375G>A (p.Glu125=) SNV
Germline		 Chr2:219570858 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 2
OBSL1-related disorder		 Criteria Provided
Conflicting Classifications
 CA2131806 rs_374656370

5 SubmittersRCV000733954RCV001136669RCV003908053
NM_015311.3(OBSL1):c.5210C>A (p.Thr1737Lys) SNV
Germline		 Chr2:219552634 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 2
not specified		 Criteria Provided
Conflicting Classifications
 CA2130321 rs_199594182

6 SubmittersRCV000910006RCV001142708RCV004702518
NM_015311.3(OBSL1):c.3444C>T (p.Ala1148=) SNV
Germline		 Chr2:219558242 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 2		 Criteria Provided
Conflicting Classifications
 CA2130870 rs_370898199

2 SubmittersRCV000905718RCV001142912
NM_015311.3(OBSL1):c.2619C>T (p.Asp873=) SNV
Germline		 Chr2:219563416 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 2		 Criteria Provided
Conflicting Classifications
 CA2131165 rs_769179933

2 SubmittersRCV000903013RCV001143018
NM_015311.3(OBSL1):c.1722C>T (p.Ala574=) SNV
Germline		 Chr2:219567388 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 2		 Criteria Provided
Conflicting Classifications
 CA2131451 rs_377614503

2 SubmittersRCV000912737RCV001143127
NM_015311.3(OBSL1):c.1158C>T (p.Tyr386=) SNV
Germline		 Chr2:219568179 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 2		 Criteria Provided
Conflicting Classifications
 CA2131622 rs_369829562

2 SubmittersRCV000925639RCV001138808
NM_015311.3(OBSL1):c.5229G>T (p.Ser1743=) SNV
Germline		 Chr2:219552615 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 2		 Criteria Provided
Conflicting Classifications
 CA2130320 rs_371141615

2 SubmittersRCV000932780RCV001142707
NM_015311.3(OBSL1):c.1534+5G>C SNV
Germline		 Chr2:219567713 Conflicting classifications of pathogenicity 3M syndrome 2 Criteria Provided
Conflicting Classifications
 CA2131516 rs_775172922

2 SubmittersRCV000987038
NM_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser) SNV
Germline		 Chr2:219557559 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 2
OBSL1-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2130730 rs_74589174

5 SubmittersRCV000997682RCV001141054RCV003962978RCV004030223
NM_015311.3(OBSL1):c.5593C>T (p.Leu1865=) SNV
Germline		 Chr2:219551619 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2130181 rs_370898052

2 SubmittersRCV001140857RCV001446783
NM_015311.3(OBSL1):c.5487G>A (p.Glu1829=) SNV
Germline		 Chr2:219551725 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2130209 rs_201113762

3 SubmittersRCV001140858RCV002559364
NM_015311.3(OBSL1):c.5243C>T (p.Thr1748Met) SNV
Germline		 Chr2:219552601 Conflicting classifications of pathogenicity 3M syndrome 2
Inborn genetic diseases
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA2130319 rs_755217589

4 SubmittersRCV001142706RCV003163314RCV002559381RCV005236637
NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr) SNV
Germline		 Chr2:219556200 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA2130550 rs_199936876

6 SubmittersRCV001140963RCV001309359RCV005236636
NM_015311.3(OBSL1):c.4419C>T (p.Gly1473=) SNV
Germline		 Chr2:219556210 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2130555 rs_752057894

2 SubmittersRCV001140964RCV002070692
NM_015311.3(OBSL1):c.4202C>T (p.Pro1401Leu) SNV
Germline		 Chr2:219556588 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2130630 rs_202141932

3 SubmittersRCV001142809RCV001513903
NM_015311.3(OBSL1):c.3980G>A (p.Arg1327Gln) SNV
Germline		 Chr2:219557429 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2130702 rs_560822587

4 SubmittersRCV001138493RCV002556952RCV002556953
NM_015311.3(OBSL1):c.3839G>A (p.Arg1280Gln) SNV
Germline		 Chr2:219557570 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2130732 rs_77287119

3 SubmittersRCV001141055RCV001882429
NM_015311.3(OBSL1):c.3355C>T (p.Leu1119=) SNV
Germline		 Chr2:219558331 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA66029049 rs_750782462

3 SubmittersRCV001138174RCV001882416
NM_015311.3(OBSL1):c.3078G>C (p.Gly1026=) SNV
Germline		 Chr2:219559373 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA2130972 rs_190405420

3 SubmittersRCV001138604RCV001446599RCV006455458
NM_015311.3(OBSL1):c.2706C>T (p.Pro902=) SNV
Germline		 Chr2:219562649 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2131112 rs_747837754

2 SubmittersRCV001141179RCV001424111
NM_015311.3(OBSL1):c.2392G>A (p.Gly798Ser) SNV
Germline		 Chr2:219565257 Conflicting classifications of pathogenicity 3M syndrome 2
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2131257 rs_201462216

3 SubmittersRCV001138279RCV002556945RCV001856772
NM_015311.3(OBSL1):c.2103C>T (p.Gly701=) SNV
Germline		 Chr2:219566861 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2131333 rs_368538357

2 SubmittersRCV001138700RCV002556961
NM_015311.3(OBSL1):c.1663C>T (p.Arg555Trp) SNV
Germline		 Chr2:219567447 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided
OBSL1-related disorder		 Criteria Provided
Conflicting Classifications
 CA2131466 rs_199991707

4 SubmittersRCV001143128RCV001520722RCV003918728
NM_015311.3(OBSL1):c.1443C>G (p.Ala481=) SNV
Germline		 Chr2:219567809 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2131531 rs_373882420

2 SubmittersRCV001143130RCV002557049
NM_015311.3(OBSL1):c.1228T>C (p.Tyr410His) SNV
Germline		 Chr2:219568109 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided
OBSL1-related disorder		 Criteria Provided
Conflicting Classifications
 CA2131605 rs_563580301

3 SubmittersRCV001138805RCV002070631RCV003963076
NM_015311.3(OBSL1):c.1167C>T (p.Ile389=) SNV
Germline		 Chr2:219568170 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2131621 rs_771196625

2 SubmittersRCV001138807RCV002070632
NM_015311.3(OBSL1):c.765C>T (p.Phe255=) SNV
Germline		 Chr2:219570468 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2131738 rs_751927713

2 SubmittersRCV001143239RCV003542325
NM_015311.3(OBSL1):c.4609+12G>A SNV
Germline		 Chr2:219556008 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2130494 rs_367810594

3 SubmittersRCV001138383RCV001760098
NM_015311.3(OBSL1):c.2407+11A>G SNV
Germline		 Chr2:219565231 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA2131247 rs_62191613

3 SubmittersRCV001138278RCV002070626RCV003396763
NM_015311.3(OBSL1):c.1972G>A (p.Glu658Lys) SNV
Germline		 Chr2:219566992 Conflicting classifications of pathogenicity Inborn genetic diseases
3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2131366 rs_112487236

3 SubmittersRCV004036156RCV004720303RCV001299920
NM_015311.3(OBSL1):c.4453C>T (p.Arg1485Ter) SNV
Germline		 Chr2:219556176 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 2
Monogenic short stature		 Criteria Provided
Conflicting Classifications
 CA2130539 rs_568750433

5 SubmittersRCV002012250RCV003989136RCV006442474
NM_015311.3(OBSL1):c.3883G>A (p.Gly1295Arg) SNV
Germline		 Chr2:219557526 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 2
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA2130723 rs_530576939

4 SubmittersRCV001945754RCV004720339RCV002560437RCV005238077
NM_015311.3(OBSL1):c.2222C>G (p.Ser741Ter) SNV
Germline		 Chr2:219565427 Likely pathogenic 3M syndrome 2 Criteria Provided
Single Submitter
 CA350750945 rs_749399846

1 SubmittersRCV003495348
NM_015311.3(OBSL1):c.3682C>T (p.Arg1228Ter) SNV
Germline		 Chr2:219557931 Likely pathogenic 3M syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV004720662
NM_015311.3(OBSL1):c.2134+2T>C SNV
Germline		 Chr2:219566828 Likely pathogenic 3M syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV004783361
NM_015311.3(OBSL1):c.5414-1G>A SNV
Germline		 Chr2:219551799 Likely pathogenic 3M syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV005018658
NM_015311.3(OBSL1):c.5413+1G>A SNV
Germline		 Chr2:219552111 Likely pathogenic 3M syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV005018659
NM_015311.3(OBSL1):c.4989+1G>T SNV
Germline		 Chr2:219553573 Conflicting classifications of pathogenicity 3M syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005018661RCV005063245
NM_015311.3(OBSL1):c.3617G>A (p.Trp1206Ter) SNV
Germline		 Chr2:219557996 Likely pathogenic 3M syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV005024088
NM_015311.3(OBSL1):c.1837+2T>C SNV
Germline		 Chr2:219567271 Likely pathogenic 3M syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV005018664
NM_015311.3(OBSL1):c.482G>A (p.Trp161Ter) SNV
Germline		 Chr2:219570751 Likely pathogenic 3M syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV005018665
NM_015311.3(OBSL1):c.151C>T (p.Gln51Ter) SNV
Germline		 Chr2:219571082 Likely pathogenic 3M syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV005024091
NM_015311.3(OBSL1):c.1A>G (p.Met1Val) SNV
Germline		 Chr2:219571232 Likely pathogenic 3M syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV005024093
NM_015311.3(OBSL1):c.5309-1G>A SNV
Germline		 Chr2:219552217 Likely pathogenic 3M syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV005362283