Total 37 pathogenic variants reported for Simpson-Golabi-Behmel syndrome type 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004484.4(GPC3):c.886T>A (p.Trp296Arg) SNV
Germline		 ChrX:133753628 Pathogenic Simpson-Golabi-Behmel syndrome type 1 No Assertion Criteria Provided
 CA255986 rs_104894854

1 SubmittersRCV000012453
NM_004484.4(GPC3):c.1292+1G>T SNV
Germline		 ChrX:133692368 Pathogenic Simpson-Golabi-Behmel syndrome type 1 No Assertion Criteria Provided
 CA351493 rs_869025182

1 SubmittersRCV000012454
NM_004484.4(GPC3):c.595C>T (p.Arg199Ter) SNV
Germline		 ChrX:133753919 Pathogenic Simpson-Golabi-Behmel syndrome type 1
Condition: not provided
Wilms tumor 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255988 rs_104894855

3 SubmittersRCV000012455RCV000579176RCV000692634
NM_004484.4(GPC3):c.337+1G>A SNV
Germline		 ChrX:133953049 Pathogenic Simpson-Golabi-Behmel syndrome type 1 No Assertion Criteria Provided
 CA351494 rs_869025183

1 SubmittersRCV000012459
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter) SNV
Germline		 ChrX:133699902 Pathogenic Simpson-Golabi-Behmel syndrome type 1
Wilms tumor 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256003 rs_122453121

6 SubmittersRCV000012460RCV000653751RCV000725910
NM_004484.4(GPC3):c.1666G>A (p.Gly556Arg) SNV
Germline		 ChrX:133536201 Pathogenic/Likely pathogenic Simpson-Golabi-Behmel syndrome type 1
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256006 rs_267606850

3 SubmittersRCV000012461RCV002313704RCV005055511
NM_004484.4(GPC3):c.1426A>T (p.Met476Leu) SNV
Germline		 ChrX:133596587 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wilms tumor 1
Simpson-Golabi-Behmel syndrome type 1
Wilms tumor 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA159992 rs_200265913

5 SubmittersRCV000121185RCV001507547RCV001054235RCV005042230RCV005572273
NM_004484.4(GPC3):c.1259C>G (p.Thr420Ser) SNV
Germline		 ChrX:133692402 Conflicting classifications of pathogenicity Wilms tumor 1
Simpson-Golabi-Behmel syndrome type 1
Wilms tumor 1		 Criteria Provided
Conflicting Classifications
 CA16616631 rs_377381100

2 SubmittersRCV000463354RCV005044679
NM_004484.4(GPC3):c.485A>G (p.Asn162Ser) SNV
Germline		 ChrX:133754029 Conflicting classifications of pathogenicity Wilms tumor 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Inborn genetic diseases
Simpson-Golabi-Behmel syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA10520828 rs_780431445

9 SubmittersRCV000542028RCV001557397RCV002257840RCV002341462RCV003485605
NM_004484.4(GPC3):c.1616G>C (p.Ser539Thr) SNV
Germline		 ChrX:133536251 Conflicting classifications of pathogenicity Wilms tumor 1
Wilms tumor 1
Simpson-Golabi-Behmel syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA335966670 rs_137858712

2 SubmittersRCV000529032RCV005049601
NM_004484.4(GPC3):c.955G>A (p.Val319Ile) SNV
Germline		 ChrX:133753559 Conflicting classifications of pathogenicity Wilms tumor 1
Wilms tumor 1
Simpson-Golabi-Behmel syndrome type 1
Condition: not provided
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA10520771 rs_753020197

5 SubmittersRCV001429125RCV005044832RCV005426164RCV005348154RCV005407739
NM_004484.4(GPC3):c.1064G>A (p.Arg355His) SNV
Germline		 ChrX:133699997 Conflicting classifications of pathogenicity Wilms tumor 1
Wilms tumor 1
Simpson-Golabi-Behmel syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA414700070 rs_1556271627

2 SubmittersRCV000653748RCV005046837
NM_004484.4(GPC3):c.1318G>A (p.Gly440Arg) SNV
Germline		 ChrX:133661825 Conflicting classifications of pathogenicity Wilms tumor 1
Wilms tumor 1
Simpson-Golabi-Behmel syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA414704759 rs_1203009272

2 SubmittersRCV000653754RCV005046838
NM_004484.4(GPC3):c.974C>A (p.Ser325Ter) SNV
Unknown		 ChrX:133753540 Likely pathogenic Simpson-Golabi-Behmel syndrome type 1 No Assertion Criteria Provided
 CA414705131 rs_1569426054

1 SubmittersRCV000681476
NM_004484.4(GPC3):c.1561C>T (p.Arg521Cys) SNV
Germline		 ChrX:133596452 Conflicting classifications of pathogenicity Wilms tumor 1
Simpson-Golabi-Behmel syndrome type 1
Wilms tumor 1		 Criteria Provided
Conflicting Classifications
 CA10520657 rs_759543703

2 SubmittersRCV000689242RCV005049656
NM_004484.4(GPC3):c.1255G>A (p.Asp419Asn) SNV
Germline		 ChrX:133692406 Conflicting classifications of pathogenicity Wilms tumor 1
Wilms tumor 1
Simpson-Golabi-Behmel syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA10520696 rs_755544588

2 SubmittersRCV000693328RCV005049660
NM_004484.4(GPC3):c.1494C>A (p.Cys498Ter) SNV
Unknown		 ChrX:133596519 Likely pathogenic Simpson-Golabi-Behmel syndrome type 1 Criteria Provided
Single Submitter
 CA414701196 rs_753210097

1 SubmittersRCV000755692
NM_004484.4(GPC3):c.693G>A (p.Gln231=) SNV
Germline		 ChrX:133753821 Conflicting classifications of pathogenicity Wilms tumor 1
not specified
GPC3-related disorder
Simpson-Golabi-Behmel syndrome type 1
Wilms tumor 1		 Criteria Provided
Conflicting Classifications
 CA10520806 rs_768782219

4 SubmittersRCV000820289RCV001816904RCV004754575RCV005049708
NM_004484.4(GPC3):c.1619A>G (p.Gln540Arg) SNV
Germline		 ChrX:133536248 Conflicting classifications of pathogenicity Wilms tumor 1
Wilms tumor 1
Simpson-Golabi-Behmel syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA10520642 rs_757034991

2 SubmittersRCV001034505RCV005049735
NM_004484.4(GPC3):c.1702A>G (p.Met568Val) SNV
Germline		 ChrX:133536165 Conflicting classifications of pathogenicity Wilms tumor 1
Wilms tumor 1
Simpson-Golabi-Behmel syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA414702488 rs_1277140205

2 SubmittersRCV001045535RCV005047231
NM_004484.4(GPC3):c.797A>G (p.Gln266Arg) SNV
Germline		 ChrX:133753717 Conflicting classifications of pathogenicity Wilms tumor 1
not specified
Hereditary cancer-predisposing syndrome
Inborn genetic diseases
Simpson-Golabi-Behmel syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA10520795 rs_765072095

5 SubmittersRCV001054003RCV003994199RCV002259073RCV002553330RCV001294010
NM_004484.4(GPC3):c.517A>G (p.Ser173Gly) SNV
Germline		 ChrX:133753997 Conflicting classifications of pathogenicity Wilms tumor 1
Simpson-Golabi-Behmel syndrome type 1
Wilms tumor 1		 Criteria Provided
Conflicting Classifications
 CA414706444 rs_2071700126

2 SubmittersRCV001062514RCV005047273
NM_004484.4(GPC3):c.19A>C (p.Thr7Pro) SNV
Germline		 ChrX:133985431 Conflicting classifications of pathogenicity Wilms tumor 1
Simpson-Golabi-Behmel syndrome type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10520896 rs_773144223

3 SubmittersRCV001313285RCV004720305RCV005001198
NM_004484.4(GPC3):c.175+1G>T SNV
Germline		 ChrX:133985274 Pathogenic Simpson-Golabi-Behmel syndrome type 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA414706870 rs_886039489

2 SubmittersRCV001645005RCV003332322
NM_004484.4(GPC3):c.1167-1G>A SNV
Germline		 ChrX:133692495 Likely pathogenic Simpson-Golabi-Behmel syndrome type 1 Criteria Provided
Single Submitter
 CA414705850 rs_2071074944

1 SubmittersRCV001782224
NM_004484.4(GPC3):c.505G>T (p.Glu169Ter) SNV
Germline		 ChrX:133754009 Likely pathogenic Simpson-Golabi-Behmel syndrome type 1 Criteria Provided
Single Submitter
 CA414706474 rs_2071700502

1 SubmittersRCV002077378
NM_004484.4(GPC3):c.1413+1G>C SNV
Germline		 ChrX:133661729 Likely pathogenic Simpson-Golabi-Behmel syndrome type 1 Criteria Provided
Single Submitter
 CA414704252 rs_2124401754

1 SubmittersRCV002272751
NM_004484.4(GPC3):c.695C>A (p.Ala232Asp) SNV
Germline		 ChrX:133753819 Likely pathogenic Simpson-Golabi-Behmel syndrome type 1 Criteria Provided
Single Submitter
 CA414706062 rs_1206002281

1 SubmittersRCV002272947
NM_004484.4(GPC3):c.849A>G (p.Gln283=) SNV
Germline		 ChrX:133753665 Conflicting classifications of pathogenicity Wilms tumor 1
Wilms tumor 1
Simpson-Golabi-Behmel syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA10520790 rs_764320060

2 SubmittersRCV003501808RCV005047696
NM_004484.4(GPC3):c.780G>A (p.Trp260Ter) SNV
Germline		 ChrX:133753734 Likely pathogenic Simpson-Golabi-Behmel syndrome type 1 Criteria Provided
Single Submitter
 CA414705870 rs_2521354962

1 SubmittersRCV003990008
NM_004484.4(GPC3):c.1515C>A (p.Cys505Ter) SNV
Germline		 ChrX:133596498 Pathogenic Simpson-Golabi-Behmel syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004795716