Total 107 pathogenic variants reported for 3M syndrome 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_014780.5(CUL7):c.4333C>T (p.Arg1445Ter) SNV
Germline		 Chr6:43038949 Pathogenic 3M syndrome 1
Condition: not provided
3-M syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251897 rs_121918228

5 SubmittersRCV000001680RCV000579106RCV006456590
NM_014780.5(CUL7):c.4391A>C (p.His1464Pro) SNV
Germline		 Chr6:43038891 Pathogenic/Likely pathogenic 3M syndrome 1
3-M syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251899 rs_121918229

4 SubmittersRCV000001681RCV002281688RCV004719608
NM_014780.5(CUL7):c.1570-3C>A SNV
Germline		 Chr6:43049665 Pathogenic 3M syndrome 1 No Assertion Criteria Provided
 CA251902 rs_730880263

1 SubmittersRCV000001686
NM_014780.5(CUL7):c.2592T>G (p.Tyr864Ter) SNV
Germline		 Chr6:43046304 Pathogenic 3M syndrome 1
Condition: not provided		 No Assertion Criteria Provided
 CA236446 rs_201406974

1 SubmittersRCV000115042RCV000171523
NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys) SNV
Germline		 Chr6:43046583 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 1		 Criteria Provided
Conflicting Classifications
 CA236262 rs_200040003

4 SubmittersRCV000171398RCV001160388
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) SNV
Germline		 Chr6:43044883 Pathogenic/Likely pathogenic Inborn genetic diseases
Condition: not provided
3M syndrome 1
3-M syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275038 rs_61752334

13 SubmittersRCV000210570RCV000480559RCV000755718RCV002509281
NM_014780.5(CUL7):c.3490C>T (p.Arg1164Trp) SNV
Germline		 Chr6:43042957 Conflicting classifications of pathogenicity not specified
3M syndrome 1
Condition: not provided
Cervical cancer		 Criteria Provided
Conflicting Classifications
 CA201459 rs_201135654

5 SubmittersRCV000175461RCV000310009RCV000514995RCV005889822
NM_014780.5(CUL7):c.136C>T (p.Arg46Trp) SNV
Germline		 Chr6:43052653 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 1
not specified		 Criteria Provided
Conflicting Classifications
 CA241667 rs_141692693

4 SubmittersRCV000175863RCV001164150RCV006456784
NM_014780.5(CUL7):c.533G>T (p.Arg178Leu) SNV
Germline		 Chr6:43052256 Conflicting classifications of pathogenicity not specified
3M syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA201663 rs_183865568

4 SubmittersRCV000175865RCV000304448RCV000894602
NM_014780.5(CUL7):c.4717C>T (p.Arg1573Ter) SNV
Germline		 Chr6:43038323 Pathogenic Condition: not provided
Inborn genetic diseases
3M syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275127 rs_749509661

5 SubmittersRCV000176574RCV000210557RCV005230039
NM_014780.5(CUL7):c.1005G>A (p.Leu335=) SNV
Germline		 Chr6:43051196 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 1		 Criteria Provided
Conflicting Classifications
 CA245346 rs_201310376

3 SubmittersRCV000178297RCV001160496
NM_014780.5(CUL7):c.3173-1G>C SNV
Germline		 Chr6:43043631 Pathogenic 3M syndrome 1 No Assertion Criteria Provided
 CA277868 rs_864309521

1 SubmittersRCV000202615
NM_014780.5(CUL7):c.3432G>A (p.Thr1144=) SNV
Germline		 Chr6:43043104 Conflicting classifications of pathogenicity not specified
3M syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3813491 rs_144556973

5 SubmittersRCV000246838RCV000270729RCV000725383
NM_014780.5(CUL7):c.1590A>C (p.Leu530=) SNV
Germline		 Chr6:43049642 Conflicting classifications of pathogenicity not specified
3M syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3814106 rs_552325363

3 SubmittersRCV000251194RCV000260621RCV003765534
NM_014780.5(CUL7):c.861G>A (p.Gly287=) SNV
Germline		 Chr6:43051340 Conflicting classifications of pathogenicity not specified
3M syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3814283 rs_61750322

6 SubmittersRCV000247159RCV000398520RCV000898634
NM_014780.5(CUL7):c.3747G>A (p.Leu1249=) SNV
Germline		 Chr6:43040974 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 1
CUL7-related disorder		 Criteria Provided
Conflicting Classifications
 CA3813402 rs_141211365

4 SubmittersRCV000290074RCV001160287RCV003930057
NM_014780.5(CUL7):c.2164C>T (p.Arg722Ter) SNV
Germline		 Chr6:43048153 Pathogenic Condition: not provided
3M syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10604142 rs_886042376

3 SubmittersRCV000385356RCV002503985
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser) SNV
Germline		 Chr6:43046282 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 1
CUL7-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA3813785 rs_61750320

8 SubmittersRCV000388367RCV000764650RCV003909930RCV004526653
NM_014780.5(CUL7):c.4318C>T (p.Arg1440Ter) SNV
Germline		 Chr6:43038964 Pathogenic/Likely pathogenic Condition: not provided
3-M syndrome
3M syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3813238 rs_748555538

7 SubmittersRCV000376423RCV003987494RCV003988842
NM_014780.5(CUL7):c.4659G>A (p.Glu1553=) SNV
Germline		 Chr6:43038381 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 1
CUL7-related disorder		 Criteria Provided
Conflicting Classifications
 CA3813143 rs_139243761

4 SubmittersRCV000369713RCV001163875RCV003910041
NM_014780.5(CUL7):c.4876C>G (p.Leu1626Val) SNV
Germline		 Chr6:43037909 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3813088 rs_750060978

3 SubmittersRCV000326602RCV000514630
NM_014780.5(CUL7):c.4131T>C (p.Asn1377=) SNV
Germline		 Chr6:43040319 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3813288 rs_767470504

2 SubmittersRCV000310951RCV003708527
NM_014780.5(CUL7):c.384T>C (p.Cys128=) SNV
Germline		 Chr6:43052405 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10622139 rs_886061421

2 SubmittersRCV000407929RCV006462517
NM_014780.5(CUL7):c.2115C>T (p.His705=) SNV
Germline		 Chr6:43048202 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided
CUL7-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA3813985 rs_143128153

5 SubmittersRCV000301545RCV000730811RCV003957838RCV003993940
NM_014780.5(CUL7):c.1215C>T (p.Asn405=) SNV
Germline		 Chr6:43050986 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3814202 rs_755095253

2 SubmittersRCV000332665RCV000974211
NM_014780.5(CUL7):c.4443G>A (p.Ala1481=) SNV
Germline		 Chr6:43038690 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3813197 rs_572367422

3 SubmittersRCV000391301RCV002058612RCV004701445
NM_014780.5(CUL7):c.2767-14C>T SNV
Germline		 Chr6:43045696 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3813701 rs_754969453

2 SubmittersRCV000334910RCV002524481
NM_014780.5(CUL7):c.1716C>G (p.Ala572=) SNV
Germline		 Chr6:43049516 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3814087 rs_150213603

2 SubmittersRCV000319212RCV000888794
NM_014780.5(CUL7):c.3463-10T>C SNV
Germline		 Chr6:43042994 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3813467 rs_527664718

2 SubmittersRCV000362342RCV000885156
NM_014780.5(CUL7):c.1648C>T (p.Arg550Ter) SNV
Germline		 Chr6:43049584 Pathogenic/Likely pathogenic Condition: not provided
3M syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3814097 rs_746333044

4 SubmittersRCV000594591RCV001265587
NM_014780.5(CUL7):c.3685C>T (p.Gln1229Ter) SNV
Germline		 Chr6:43041036 Likely pathogenic 3M syndrome 1 No Assertion Criteria Provided
 CA364200299 rs_1561875767

1 SubmittersRCV000778114
NM_014780.5(CUL7):c.1482G>A (p.Trp494Ter) SNV
Germline		 Chr6:43050050 Likely pathogenic 3M syndrome 1 No Assertion Criteria Provided
 CA364223536 rs_1561892336

1 SubmittersRCV000778115
NM_014780.5(CUL7):c.3049G>A (p.Ala1017Thr) SNV
Germline		 Chr6:43044875 Conflicting classifications of pathogenicity Condition: not provided
CUL7-related disorder
3M syndrome 1		 Criteria Provided
Conflicting Classifications
 CA3813598 rs_34916226

4 SubmittersRCV000884625RCV003930625RCV005036249
NM_014780.5(CUL7):c.3915G>A (p.Leu1305=) SNV
Germline		 Chr6:43040638 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 1		 Criteria Provided
Conflicting Classifications
 CA3813351 rs_376630030

2 SubmittersRCV000920976RCV001160286
NM_014780.5(CUL7):c.426C>T (p.His142=) SNV
Germline		 Chr6:43052363 Conflicting classifications of pathogenicity Condition: not provided
3M syndrome 1
CUL7-related disorder		 Criteria Provided
Conflicting Classifications
 CA3814398 rs_138730481

3 SubmittersRCV000933517RCV001162135RCV003970583
NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter) SNV
Germline		 Chr6:43051057 Pathogenic 3M syndrome 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA138251269 rs_1023630527

3 SubmittersRCV000985217RCV001858614
NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter) SNV
Germline		 Chr6:43045277 Pathogenic 3M syndrome 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA364208599 rs_1581930130

3 SubmittersRCV001028003RCV004720040
NM_014780.5(CUL7):c.4605G>A (p.Arg1535=) SNV
Germline		 Chr6:43038435 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA450368901 rs_1363062305

2 SubmittersRCV001163877RCV005093679
NM_014780.5(CUL7):c.4570G>A (p.Val1524Ile) SNV
Germline		 Chr6:43038470 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3813161 rs_369045809

4 SubmittersRCV001163878RCV001351272RCV004609643
NM_014780.5(CUL7):c.4417C>T (p.Leu1473=) SNV
Germline		 Chr6:43038865 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3813226 rs_201386557

2 SubmittersRCV001163880RCV001515430
NM_014780.5(CUL7):c.4059C>T (p.Ser1353=) SNV
Germline		 Chr6:43040391 Conflicting classifications of pathogenicity 3M syndrome 1
CUL7-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3813306 rs_748157885

3 SubmittersRCV001158948RCV003928756RCV006465505
NM_014780.5(CUL7):c.3184A>G (p.Ile1062Val) SNV
Germline		 Chr6:43043619 Conflicting classifications of pathogenicity Inborn genetic diseases
3M syndrome 1		 Criteria Provided
Conflicting Classifications
 CA3813557 rs_748818384

2 SubmittersRCV004978074RCV001161951
NM_014780.5(CUL7):c.1823A>G (p.Glu608Gly) SNV
Germline		 Chr6:43049409 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided
not specified
Hepatocellular carcinoma		 Criteria Provided
Conflicting Classifications
 CA3814068 rs_199819170

4 SubmittersRCV001162040RCV002071009RCV005432596RCV005914002
NM_014780.5(CUL7):c.1749A>G (p.Leu583=) SNV
Germline		 Chr6:43049483 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3814081 rs_775748613

2 SubmittersRCV001164053RCV006465513
NM_014780.5(CUL7):c.1689T>C (p.His563=) SNV
Germline		 Chr6:43049543 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3814090 rs_753550369

2 SubmittersRCV001164054RCV006465514
NM_014780.5(CUL7):c.1457G>A (p.Cys486Tyr) SNV
Germline		 Chr6:43050075 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3814136 rs_151021564

4 SubmittersRCV001159142RCV001859034RCV003994222
NM_014780.5(CUL7):c.4440+13C>T SNV
Germline		 Chr6:43038829 Conflicting classifications of pathogenicity 3M syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3813213 rs_144245050

2 SubmittersRCV001163879RCV002067993
NM_014780.5(CUL7):c.2965T>G (p.Tyr989Asp) SNV
Germline		 Chr6:43045300 Conflicting classifications of pathogenicity 3M syndrome 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA364208778 rs_1295466248

2 SubmittersRCV001265588RCV005809501
NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro) SNV
Germline		 Chr6:43038277 Pathogenic/Likely pathogenic 3M syndrome 1
Condition: not provided
3-M syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3813126 rs_759300846

4 SubmittersRCV001293688RCV001871747RCV003155388
NM_014780.5(CUL7):c.3129G>A (p.Trp1043Ter) SNV
Germline		 Chr6:43044795 Pathogenic Condition: not provided
3M syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3813578 rs_374105452

3 SubmittersRCV001871753RCV006274186
NM_014780.5(CUL7):c.2064-1G>A SNV
Germline		 Chr6:43048254 Pathogenic 3M syndrome 1 No Assertion Criteria Provided
 CA364218711 rs_2150328634

1 SubmittersRCV001667871
NM_014780.5(CUL7):c.2428C>T (p.Arg810Ter) SNV
Germline		 Chr6:43046571 Likely pathogenic 3M syndrome 1 Criteria Provided
Single Submitter
 rs_1473516947

1 SubmittersRCV004596030
NM_014780.5(CUL7):c.3356-2A>C SNV
Germline		 Chr6:43043182 Likely pathogenic Condition: not provided
3M syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3813510 rs_201137899

2 SubmittersRCV001977946RCV005032052
NM_014780.5(CUL7):c.548G>A (p.Arg183Gln) SNV
Germline		 Chr6:43052241 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
3M syndrome 1		 Criteria Provided
Conflicting Classifications
 CA3814373 rs_200468701

3 SubmittersRCV001982103RCV002561422RCV004720342
NM_014780.5(CUL7):c.3061G>A (p.Glu1021Lys) SNV
Germline		 Chr6:43044863 Likely pathogenic 3M syndrome 1 Criteria Provided
Single Submitter
 CA364207817 rs_2150320060

1 SubmittersRCV002238736
NM_014780.5(CUL7):c.2862+2T>G SNV
Germline		 Chr6:43045585 Likely pathogenic 3M syndrome 1 Criteria Provided
Single Submitter
 CA364209887 rs_2150321832

1 SubmittersRCV002249019
NM_014780.5(CUL7):c.4297C>T (p.Gln1433Ter) SNV
Germline		 Chr6:43038985 Pathogenic 3M syndrome 1 Criteria Provided
Single Submitter
 CA3813241 rs_377169342

1 SubmittersRCV002251130
NM_014780.5(CUL7):c.2862+1G>A SNV
Germline		 Chr6:43045586 Likely pathogenic 3M syndrome 1 Criteria Provided
Single Submitter
 CA364209898 rs_187817041

1 SubmittersRCV002283875
NM_014780.5(CUL7):c.3046G>A (p.Gly1016Ser) SNV
Germline		 Chr6:43044878 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
3M syndrome 1
not specified		 Criteria Provided
Conflicting Classifications
 CA3813599 rs_528280483

4 SubmittersRCV003067388RCV003294440RCV004720378RCV005239631
NM_014780.5(CUL7):c.2397+1G>A SNV
Germline		 Chr6:43046879 Likely pathogenic Condition: not provided
3M syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA138248639 rs_938522045

2 SubmittersRCV002839151RCV005045011
NM_014780.5(CUL7):c.4651C>T (p.Gln1551Ter) SNV
Germline		 Chr6:43038389 Conflicting classifications of pathogenicity 3M syndrome 1 Criteria Provided
Conflicting Classifications
 CA3813145 rs_750900568

2 SubmittersRCV003330292
NM_014780.5(CUL7):c.2863-1G>C SNV
Germline		 Chr6:43045403 Likely pathogenic 3M syndrome 1 Criteria Provided
Single Submitter
 CA364209769 rs_2532656855

1 SubmittersRCV003988791
NM_014780.5(CUL7):c.1972C>T (p.Gln658Ter) SNV
Germline		 Chr6:43048423 Likely pathogenic 3M syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720617
NM_014780.5(CUL7):c.3645+2T>C SNV
Germline		 Chr6:43042800 Likely pathogenic 3M syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004797678
NM_014780.5(CUL7):c.2836C>T (p.Gln946Ter) SNV
Germline		 Chr6:43045613 Likely pathogenic 3M syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004799138
NM_014780.5(CUL7):c.4369C>T (p.Gln1457Ter) SNV
Germline		 Chr6:43038913 Likely pathogenic 3M syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005039772
NM_014780.5(CUL7):c.4023+1G>T SNV
Germline		 Chr6:43040529 Likely pathogenic 3M syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005045688
NM_014780.5(CUL7):c.4021C>T (p.Gln1341Ter) SNV
Germline		 Chr6:43040532 Likely pathogenic 3M syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005045689
NM_014780.5(CUL7):c.3646-1G>T SNV
Germline		 Chr6:43041076 Likely pathogenic 3M syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005039775
NM_014780.5(CUL7):c.1116T>G (p.Tyr372Ter) SNV
Germline		 Chr6:43051085 Likely pathogenic 3M syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005045692
NM_014780.5(CUL7):c.1540C>T (p.Gln514Ter) SNV
Germline		 Chr6:43049992 Likely pathogenic 3M syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005360097
NM_014780.5(CUL7):c.4186C>T (p.Arg1396Ter) SNV
Germline		 Chr6:43040264 Pathogenic 3M syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005417592
NM_014780.5(CUL7):c.955A>T (p.Arg319Ter) SNV
Germline		 Chr6:43051246 Likely pathogenic 3M syndrome 1 No Assertion Criteria Provided

1 SubmittersRCV005628671