| - GRCh37:
- ChrX:132795888
- GRCh38:
- ChrX:133661860
| GPC3 | | Simpson-Golabi-Behmel syndrome type 1 | Uncertain significance
(Jan 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:132887988
- GRCh38:
- ChrX:133753961
| GPC3 | P131S, P169S, P185S | Simpson-Golabi-Behmel syndrome type 1 | Uncertain significance
(Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133030929-133079463
| GPC3 | | Simpson-Golabi-Behmel syndrome type 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:132670158-132670159
- GRCh38:
- ChrX:133536130-133536131
| GPC3 | V525fs, V563fs, V579fs, V602fs | Simpson-Golabi-Behmel syndrome type 1 | Uncertain significance
(Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133087134
- GRCh38:
- ChrX:133953107
| GPC3 | Q94fs | Simpson-Golabi-Behmel syndrome type 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:132703748-132794615
| GPC3 | | Simpson-Golabi-Behmel syndrome type 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:132887846
- GRCh38:
- ChrX:133753819
| GPC3 | A178D, A216D, A232D | Simpson-Golabi-Behmel syndrome type 1 | Uncertain significance
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:132795757
- GRCh38:
- ChrX:133661729
| GPC3 | | Simpson-Golabi-Behmel syndrome type 1 | Likely pathogenic
(May 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:132670250
- GRCh38:
- ChrX:133536222
| GPC3 | I495V, I533V, I549V, I572V | Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1 | Uncertain significance
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132888207-132888208
- GRCh38:
- ChrX:133754180-133754181
| GPC3 | | Hereditary cancer-predisposing syndrome, Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1
| Likely benign
(Dec 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133119290
- GRCh38:
- ChrX:133985263
| GPC3 | | Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1
| Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132888091
- GRCh38:
- ChrX:133754064
| GPC3 | | Wilms tumor 1, Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
| Likely benign
(Dec 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132888036
- GRCh38:
- ChrX:133754009
| GPC3 | E115*, E153*, E169* | Simpson-Golabi-Behmel syndrome type 1 | Likely pathogenic
(Jan 1, 2022) | criteria provided, single submitter |
| - GRCh38:
- ChrX:133658037-133915611
| GPC3, GPC3-AS1 | | Simpson-Golabi-Behmel syndrome type 1 | Pathogenic
(Jan 27, 2022) | no assertion criteria provided |
| - GRCh37:
- ChrX:133087143
- GRCh38:
- ChrX:133953116
| GPC3 | Q91fs | Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1 | Pathogenic/Likely pathogenic
(Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132888074
- GRCh38:
- ChrX:133754047
| GPC3 | I102N, I140N, I156N | Simpson-Golabi-Behmel syndrome type 1 | Uncertain significance
(Oct 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:132826523
- GRCh38:
- ChrX:133692495
| GPC3 | | Simpson-Golabi-Behmel syndrome type 1 | Likely pathogenic
(May 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:132458579
- GRCh38:
- ChrX:133324551
| GPC4 | | Wilms tumor 1, Keipert syndrome, Simpson-Golabi-Behmel syndrome type 1,
not provided | Benign
(Aug 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132887845
- GRCh38:
- ChrX:133753818
| GPC3 | | Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1
| Likely benign
(Oct 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132887623
- GRCh38:
- ChrX:133753596
| GPC3 | | Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1
| Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132834019
- GRCh38:
- ChrX:133699991
| GPC3 | Y303C, Y341C, Y357C, Y380C | Wilms tumor 1, Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
| Uncertain significance
(Jul 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133119359
- GRCh38:
- ChrX:133985332
| GPC3 | S40P | Wilms tumor 1, Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
| Uncertain significance
(May 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133119477
- GRCh38:
- ChrX:133985450
| GPC3 | | Simpson-Golabi-Behmel syndrome type 1 | Uncertain significance
(Aug 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:133119301
- GRCh38:
- ChrX:133985274
| GPC3 | | Simpson-Golabi-Behmel syndrome type 1 | Pathogenic
(Mar 10, 2021) | no assertion criteria provided |
| - GRCh37:
- ChrX:132826391
- GRCh38:
- ChrX:133692363
| GPC3 | | Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1, Wilms tumor 1
| Uncertain significance
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132887676
- GRCh38:
- ChrX:133753649
| GPC3 | V235M, V273M, V289M | Wilms tumor 1, Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
| Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132834038
- GRCh38:
- ChrX:133700010
| GPC3 | H297Y, H335Y, H351Y, H374Y | Wilms tumor 1, Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
| Uncertain significance
(Mar 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132670255
- GRCh38:
- ChrX:133536227
| GPC3 | N493S, N531S, N547S, N570S | Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1 | Uncertain significance
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132730587
- GRCh38:
- ChrX:133596559
| GPC3 | D431A, D469A, D485A, D508A | Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1 | Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133119362
- GRCh38:
- ChrX:133985335
| GPC3 | R39C | Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1
| Uncertain significance
(Apr 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133119337
- GRCh38:
- ChrX:133985310
| GPC3 | P47L | Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1, Wilms tumor 1
| Uncertain significance
(Jun 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132730479
- GRCh38:
- ChrX:133596451
| GPC3 | R505H, R521H, R544H, R467H | Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1, Wilms tumor 1
| Uncertain significance
(Jan 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132887744
- GRCh38:
- ChrX:133753717
| GPC3 | Q266R, Q212R, Q250R | Inborn genetic diseases, Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1,
Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Sep 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:132670197
- GRCh38:
- ChrX:133536169
| GPC3 | | Wilms tumor 1, Inborn genetic diseases, Wilms tumor 1,
Simpson-Golabi-Behmel syndrome type 1 | Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132888208-132888210
- GRCh38:
- ChrX:133754181-133754183
| GPC3 | | Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1, not provided,
Hereditary cancer-predisposing syndrome | Benign/Likely benign
(Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132888207-132888208
- GRCh38:
- ChrX:133754180-133754181
| GPC3 | | Hereditary cancer-predisposing syndrome, Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1,
Wilms tumor 1 | Benign/Likely benign
(Jan 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:130280298-132670366
| FRMD7, GPC3, GPC4, HS6ST2, IGSF1, MBNL3, OR13H1, RAP2C, STK26, TFDP3, USP26 | | Nystagmus 1, congenital, X-linked, Simpson-Golabi-Behmel syndrome type 1 | Pathogenic
(Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70344662
- GRCh38:
- ChrX:71124812
| MED12 | L675F | FG syndrome 1, X-linked intellectual disability with marfanoid habitus, Blepharophimosis - intellectual disability syndrome, MKB type,
Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1 | Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:132730547
- GRCh38:
- ChrX:133596519
| GPC3 | C498*, C521*, C482*, C444* | Simpson-Golabi-Behmel syndrome type 1 | Likely pathogenic
(Nov 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:132826412
- GRCh38:
- ChrX:133692384
| GPC3 | Q426R, Q372R, Q449R, Q410R | History of neurodevelopmental disorder, Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1,
Wilms tumor 1 | Uncertain significance
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132887628
- GRCh38:
- ChrX:133753601
| GPC3 | E305K, E251K, E289K | Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1, Wilms tumor 1
| Uncertain significance
(Sep 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132887567
- GRCh38:
- ChrX:133753540
| GPC3 | S325*, S309*, S271* | Simpson-Golabi-Behmel syndrome type 1 | Likely pathogenic
(Dec 5, 2016) | no assertion criteria provided |
| - GRCh37:
- ChrX:132730473
- GRCh38:
- ChrX:133596445
| GPC3 | L523P, L546P, L469P, L507P | Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1
| Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132795875
- GRCh38:
- ChrX:133661847
| GPC3 | | Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1 | Likely benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132888025
- GRCh38:
- ChrX:133753998
| GPC3 | | Wilms tumor 1, Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
| Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132887500
- GRCh38:
- ChrX:133753473
| GPC3 | | Wilms tumor 1, Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133087210
- GRCh38:
- ChrX:133953183
| GPC3 | | Inborn genetic diseases, Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1,
not specified, not provided | Benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132670203
- GRCh38:
- ChrX:133536175
| GPC3 | L511fs, L549fs, L588fs, L565fs | Simpson-Golabi-Behmel syndrome type 1 | Likely pathogenic
(Jan 1, 2015) | criteria provided, single submitter |
| - GRCh37:
- ChrX:132730541
- GRCh38:
- ChrX:133596513
| GPC3 | | Inborn genetic diseases, Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1,
Hereditary cancer-predisposing syndrome, not specified, not provided
| Benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132887569
- GRCh38:
- ChrX:133753542
| GPC3 | | Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132887893
- GRCh38:
- ChrX:133753866
| GPC3 | M216I, M200I, M162I | Inborn genetic diseases, Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1,
not provided, Wilms tumor 1 | Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132670264
- GRCh38:
- ChrX:133536236
| GPC3 | P544L, P490L, P567L, P528L | Simpson-Golabi-Behmel syndrome type 1, Hereditary cancer-predisposing syndrome, not provided,
Wilms tumor 1 | Benign/Likely benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132826457
- GRCh38:
- ChrX:133692429
| GPC3 | S411I, S357I, S395I, S434I | Inborn genetic diseases, Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1,
Wilms tumor 1 | Benign/Likely benign
(Apr 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132834006-132986815
| GPC3 | | Simpson-Golabi-Behmel syndrome type 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:132888208
- GRCh38:
- ChrX:133754181
| GPC3 | | Inborn genetic diseases, Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1,
Wilms tumor 1, Hereditary cancer-predisposing syndrome, not provided,
not specified | Benign/Likely benign
(Aug 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132670269
- GRCh38:
- ChrX:133536241
| GPC3 | | Hereditary cancer-predisposing syndrome, Inborn genetic diseases, not provided,
not specified, Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1
| Benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132826404
- GRCh38:
- ChrX:133692376
| GPC3 | V429M, V452M, V413M, V375M | Inborn genetic diseases, not provided, Simpson-Golabi-Behmel syndrome type 1,
Wilms tumor 1 | Benign/Likely benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132888183
- GRCh38:
- ChrX:133754156
| GPC3 | R120C, R104C, R66C | Inborn genetic diseases, Hereditary cancer-predisposing syndrome, not provided,
Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1 | Benign/Likely benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132670229
- GRCh38:
- ChrX:133536201
| GPC3 | G556R, G540R, G502R, G579R | Inborn genetic diseases | Likely pathogenic
(May 26, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:132833930
- GRCh38:
- ChrX:133699902
| GPC3 | R387*, R410*, R371*, R333* | not provided, Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1
| Pathogenic
(Apr 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:133087076
- GRCh38:
- ChrX:133953049
| GPC3 | | Simpson-Golabi-Behmel syndrome type 1 | Pathogenic
(Oct 15, 2005) | no assertion criteria provided |
| - GRCh37:
- ChrX:132795703-132795954
- GRCh38:
- ChrX:133661675-133661926
| GPC3 | | Simpson-Golabi-Behmel syndrome type 1 | Pathogenic
(Oct 15, 2005) | no assertion criteria provided |
| - GRCh37:
- ChrX:132887946
- GRCh38:
- ChrX:133753919
| GPC3 | R199*, R145*, R183* | not provided, Wilms tumor 1 | Pathogenic
(Mar 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:132826396
- GRCh38:
- ChrX:133692368
| GPC3 | | Simpson-Golabi-Behmel syndrome type 1 | Pathogenic
(May 22, 2000) | no assertion criteria provided |
| - GRCh37:
- ChrX:132887655
- GRCh38:
- ChrX:133753628
| GPC3 | W296R, W242R, W280R | Simpson-Golabi-Behmel syndrome type 1 | Pathogenic
(May 22, 2000) | no assertion criteria provided |
| | GPC3 | | Simpson-Golabi-Behmel syndrome type 1 | Pathogenic
(May 22, 2000) | no assertion criteria provided |
| - GRCh37:
- ChrX:133087208-133087220
- GRCh38:
- ChrX:133953181-133953193
| GPC3 | C65fs | Simpson-Golabi-Behmel syndrome type 1 | Pathogenic
(Jan 1, 1999) | no assertion criteria provided |