Total 84 pathogenic variants reported for Roberts-SC phocomelia syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly) SNV
Germline		 Chr8:27799658 Likely pathogenic Condition: not provided
Roberts-SC phocomelia syndrome		 Criteria Provided
Single Submitter
 CA339903 rs_80359868

3 SubmittersRCV003555890RCV005624273
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter) SNV
Germline		 Chr8:27776813 Pathogenic Condition: not provided
Roberts-SC phocomelia syndrome
Juberg-Hayward syndrome
Roberts-SC phocomelia syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339904 rs_80359849

5 SubmittersRCV001380585RCV005624274RCV005041968
NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter) SNV
Germline		 Chr8:27791968 Pathogenic Condition: not provided
Roberts-SC phocomelia syndrome		 Criteria Provided
Single Submitter
 CA339908 rs_80359864

3 SubmittersRCV001851564RCV005624277
NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter) SNV
Germline		 Chr8:27776912 Pathogenic Condition: not provided
Roberts-SC phocomelia syndrome		 Criteria Provided
Single Submitter
 CA339910 rs_80359850

3 SubmittersRCV002512660RCV005624278
NM_001017420.3(ESCO2):c.1131+1G>A SNV
Germline		 Chr8:27788003 Pathogenic Condition: not provided
Juberg-Hayward syndrome
Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341780 rs_80359861

6 SubmittersRCV001228633RCV005049382RCV005624291
NM_001017420.3(ESCO2):c.1132-7A>G SNV
Germline		 Chr8:27788840 Pathogenic/Likely pathogenic Condition: not provided
Roberts-SC phocomelia syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341781 rs_80359862

12 SubmittersRCV000519470RCV005624292
NM_001017420.3(ESCO2):c.1354-18G>A SNV
Germline		 Chr8:27792650 Likely pathogenic Roberts-SC phocomelia syndrome
Juberg-Hayward syndrome
Roberts-SC phocomelia syndrome		 Criteria Provided
Single Submitter
 CA341783 rs_80359865

2 SubmittersRCV005042069RCV005624294
NM_001017420.3(ESCO2):c.1674-2A>G SNV
Unknown		 Chr8:27803304 Pathogenic Roberts-SC phocomelia syndrome
Juberg-Hayward syndrome
Roberts-SC phocomelia syndrome		 Criteria Provided
Single Submitter
 CA341786 rs_80359869

2 SubmittersRCV002476996RCV005624297
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu) SNV
Germline		 Chr8:27776691 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Roberts-SC phocomelia syndrome		 Criteria Provided
Conflicting Classifications
 CA271502 rs_557813179

4 SubmittersRCV001430181RCV002514815RCV005624328
NM_001017420.3(ESCO2):c.648A>G (p.Lys216=) SNV
Germline		 Chr8:27776956 Conflicting classifications of pathogenicity Condition: not provided
Roberts-SC phocomelia syndrome		 Criteria Provided
Conflicting Classifications
 CA271504 rs_587783624

2 SubmittersRCV002514816RCV005624329
NM_001017420.3(ESCO2):c.1044A>T (p.Gly348=) SNV
Germline		 Chr8:27787915 Conflicting classifications of pathogenicity Condition: not provided
Roberts-SC phocomelia syndrome		 Criteria Provided
Conflicting Classifications
 CA271498 rs_587783623

2 SubmittersRCV001857507RCV005624326
NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr) SNV
Germline		 Chr8:27788890 Conflicting classifications of pathogenicity Condition: not provided
Roberts-SC phocomelia syndrome		 Criteria Provided
Conflicting Classifications
 CA271500 rs_146312522

2 SubmittersRCV000999013RCV005624327
NM_001017420.3(ESCO2):c.577C>T (p.Arg193Trp) SNV
Germline		 Chr8:27776885 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Roberts-SC phocomelia syndrome
ESCO2-related disorder		 Criteria Provided
Conflicting Classifications
 CA4692074 rs_143539004

5 SubmittersRCV000292221RCV002518986RCV005624351RCV004754374
NM_001017420.3(ESCO2):c.1493A>C (p.Lys498Thr) SNV
Germline		 Chr8:27792807 Conflicting classifications of pathogenicity Roberts-SC phocomelia syndrome
Condition: not provided
Roberts-SC phocomelia syndrome
Juberg-Hayward syndrome
ESCO2-related disorder		 Criteria Provided
Conflicting Classifications
 CA4692322 rs_143530690

6 SubmittersRCV005624369RCV002524560RCV004725190RCV004754415
NM_001017420.3(ESCO2):c.915G>A (p.Glu305=) SNV
Germline		 Chr8:27780227 Conflicting classifications of pathogenicity Condition: not provided
Roberts-SC phocomelia syndrome		 Criteria Provided
Conflicting Classifications
 CA4692153 rs_184200865

2 SubmittersRCV002058727RCV005624364
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg) SNV
Germline		 Chr8:27776633 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Roberts-SC phocomelia syndrome		 Criteria Provided
Conflicting Classifications
 CA4692033 rs_199653554

4 SubmittersRCV000978220RCV002523675RCV005624360
NM_001017420.3(ESCO2):c.1013+7A>G SNV
Germline		 Chr8:27784064 Conflicting classifications of pathogenicity Condition: not provided
ESCO2-related disorder
Roberts-SC phocomelia syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA4692185 rs_149494070

7 SubmittersRCV000730627RCV003922629RCV005624365RCV005434880
NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr) SNV
Germline		 Chr8:27803367 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Roberts-SC phocomelia syndrome		 Criteria Provided
Conflicting Classifications
 CA4692388 rs_115144373

4 SubmittersRCV000906000RCV001374520RCV005624373
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val) SNV
Germline		 Chr8:27780241 Conflicting classifications of pathogenicity Condition: not provided
not specified
ESCO2-related disorder
Inborn genetic diseases
Roberts-SC phocomelia syndrome		 Criteria Provided
Conflicting Classifications
 CA4692155 rs_145734811

6 SubmittersRCV000728609RCV001816794RCV003420288RCV004026949RCV005624424
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala) SNV
Germline		 Chr8:27777050 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
ESCO2-related disorder
Roberts-SC phocomelia syndrome		 Criteria Provided
Conflicting Classifications
 CA4692103 rs_750159862

5 SubmittersRCV000941633RCV004029717RCV003960547RCV005624438
NM_001017420.3(ESCO2):c.955+10A>G SNV
Germline		 Chr8:27780277 Conflicting classifications of pathogenicity Condition: not provided
Roberts-SC phocomelia syndrome		 Criteria Provided
Conflicting Classifications
 CA580675387 rs_1421884058

3 SubmittersRCV000983329RCV005624444
NM_001017420.3(ESCO2):c.956-2A>G SNV
Germline		 Chr8:27783998 Likely pathogenic Roberts-SC phocomelia syndrome Criteria Provided
Single Submitter
 CA370821993 rs_1207909659

1 SubmittersRCV005624446
NM_001017420.3(ESCO2):c.1654C>T (p.Arg552Ter) SNV
Germline		 Chr8:27799697 Pathogenic Juberg-Hayward syndrome
Condition: not provided
Juberg-Hayward syndrome
Roberts-SC phocomelia syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA174271604 rs_991672013

4 SubmittersRCV001328531RCV001780250RCV005040191
NM_001017420.3(ESCO2):c.862-2A>G SNV
Unknown		 Chr8:27780172 Likely pathogenic Roberts-SC phocomelia syndrome Criteria Provided
Single Submitter
 CA370821179 rs_1804892169

1 SubmittersRCV005624481
NM_001017420.3(ESCO2):c.861+1G>A SNV
Germline		 Chr8:27777170 Conflicting classifications of pathogenicity Condition: not provided
Juberg-Hayward syndrome
Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome		 Criteria Provided
Conflicting Classifications
 CA370820049 rs_1804814100

3 SubmittersRCV001859327RCV005050336RCV005624482
NM_001017420.3(ESCO2):c.1013+1G>A SNV
Germline		 Chr8:27784058 Likely pathogenic Condition: not provided
Roberts-SC phocomelia syndrome		 Criteria Provided
Single Submitter
 CA370822277 rs_1225195349

2 SubmittersRCV001378891RCV005624483
NM_001017420.3(ESCO2):c.1673+1G>A SNV
Germline		 Chr8:27799717 Pathogenic Roberts-SC phocomelia syndrome Criteria Provided
Single Submitter
 CA370827605 rs_2128957692

1 SubmittersRCV005624494
NM_001017420.3(ESCO2):c.1353+1G>T SNV
Germline		 Chr8:27792053 Likely pathogenic Condition: not provided
Roberts-SC phocomelia syndrome
Juberg-Hayward syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA174266852 rs_959080745

2 SubmittersRCV002046227RCV005042697
NM_001017420.3(ESCO2):c.1166G>A (p.Cys389Tyr) SNV
Germline		 Chr8:27788881 Likely pathogenic Roberts-SC phocomelia syndrome Criteria Provided
Single Submitter
 CA370824102 rs_2128955152

1 SubmittersRCV005624501
NM_001017420.3(ESCO2):c.156A>G (p.Gln52=) SNV
Germline		 Chr8:27776464 Conflicting classifications of pathogenicity Condition: not provided
Roberts-SC phocomelia syndrome
Juberg-Hayward syndrome		 Criteria Provided
Conflicting Classifications
 CA174252754 rs_950912243

2 SubmittersRCV002695273RCV005050622
NM_001017420.3(ESCO2):c.569A>G (p.Asn190Ser) SNV
Germline		 Chr8:27776877 Conflicting classifications of pathogenicity Inborn genetic diseases
Juberg-Hayward syndrome
Roberts-SC phocomelia syndrome		 Criteria Provided
Conflicting Classifications
 CA4692073 rs_770166633

2 SubmittersRCV002840756RCV005047329
NM_001017420.3(ESCO2):c.1132-5T>G SNV
Germline		 Chr8:27788842 Conflicting classifications of pathogenicity Condition: not provided
Juberg-Hayward syndrome
Roberts-SC phocomelia syndrome		 Criteria Provided
Conflicting Classifications
 CA174261743 rs_886134261

2 SubmittersRCV003666119RCV005047718
NM_001017420.3(ESCO2):c.955+15G>C SNV
Germline		 Chr8:27780282 Conflicting classifications of pathogenicity Condition: not provided
Juberg-Hayward syndrome
Roberts-SC phocomelia syndrome		 Criteria Provided
Conflicting Classifications
 CA4692164 rs_369338792

2 SubmittersRCV003740017RCV005040493
NM_001017420.3(ESCO2):c.1A>G (p.Met1Val) SNV
Germline		 Chr8:27775515 Likely pathogenic Roberts-SC phocomelia syndrome
Juberg-Hayward syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005041095
NM_001017420.3(ESCO2):c.665C>A (p.Ser222Ter) SNV
Germline		 Chr8:27776973 Likely pathogenic Roberts-SC phocomelia syndrome
Juberg-Hayward syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005041116
NM_001017420.3(ESCO2):c.940G>A (p.Gly314Ser) SNV
Germline		 Chr8:27780252 Conflicting classifications of pathogenicity Roberts-SC phocomelia syndrome
Juberg-Hayward syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005041124RCV005325958
NM_001017420.3(ESCO2):c.1013+1G>C SNV
Germline		 Chr8:27784058 Likely pathogenic Roberts-SC phocomelia syndrome No Assertion Criteria Provided

1 SubmittersRCV005624540