| - GRCh38:
- Chr1:63395673-63749318
| ALG6, DLEU2L, EFCAB7, FOXD3, ITGB3BP, LOC121725027, LOC129930667, LOC129930668, LOC129930669, LOC129930670, PGM1 | | Craniosynostosis syndrome | Uncertain significance
(Mar 23, 2023) | criteria provided, single submitter |
| - GRCh38:
- Chr1:63129955-63141504
| | | Craniosynostosis syndrome | Uncertain significance
(Mar 23, 2023) | criteria provided, single submitter |
| - GRCh38:
- Chr1:12617574-12621498
| DHRS3 | | Craniosynostosis syndrome | Uncertain significance
(Mar 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34659864
- GRCh38:
- Chr9:34659867
| IL11RA | W307R | Craniosynostosis syndrome | Pathogenic
(Nov 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr10:123256209
- GRCh38:
- Chr10:121496695
| FGFR2 | A339V, A450V, A451V, A452V, A455V, A478V, A479V, A565V, A567V, A568V | Seizure, Intellectual disability, Craniosynostosis syndrome
| Uncertain significance
(Jun 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:56708952-56708956
- GRCh38:
- Chr12:56315168-56315172
| CNPY2 | G16fs | Craniosynostosis syndrome, Abnormality of the face | Likely pathogenic
(Aug 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:132458429
- GRCh38:
- ChrX:133324401
| GPC4 | V152fs | Craniosynostosis syndrome | Likely pathogenic
(Jul 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr6:50810866
- GRCh38:
- Chr6:50843153
| TFAP2B | R382* | Craniosynostosis syndrome | Likely pathogenic
(Jul 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr6:50805693
- GRCh38:
- Chr6:50837980
| TFAP2B | K276R | Craniosynostosis syndrome | Likely pathogenic
(Jul 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr6:50796394
- GRCh38:
- Chr6:50828681
| TFAP2B | | Craniosynostosis syndrome | Likely pathogenic
(Jul 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr6:50786607
- GRCh38:
- Chr6:50818894
| TFAP2B | M1I | Craniosynostosis syndrome | Likely pathogenic
(Jul 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr5:138269627-138269628
- GRCh38:
- Chr5:138933938-138933939
| CTNNA1 | | Craniosynostosis syndrome | Likely pathogenic
(Jul 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:121740424
- GRCh38:
- Chr2:120982848
| GLI2 | A409T, A534T, A551T | Craniosynostosis syndrome | Likely pathogenic
(Jul 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:5833044
- GRCh38:
- Chr2:5692912
| SOX11 | R64H | Craniosynostosis syndrome | Likely pathogenic
(Jul 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr15:57555366-57555370
- GRCh38:
- Chr15:57263168-57263172
| TCF12 | E288fs, E329fs, E354fs, E378fs, E466fs, E490fs, E524fs, E536fs, E547fs, E548fs | Craniosynostosis syndrome | Pathogenic
(Jan 1, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr7:42115857-42116915
- GRCh38:
- Chr7:42076258-42077316
| GLI3 | | Craniosynostosis syndrome | Pathogenic
(Jul 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42610145-42610146
- GRCh38:
- Chr22:42214139-42214140
| TCF20 | L389fs | Craniosynostosis syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr19:42880357-42880359
- GRCh38:
- Chr19:42376205-42376207
| MEGF8 | S2590del, S2657del | Polydactyly, Craniosynostosis syndrome | Likely pathogenic
(May 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42862352
- GRCh38:
- Chr19:42358200
| MEGF8 | F1625fs, F1692fs | Metopic synostosis, Polydactyly, Craniosynostosis syndrome,
Syndactyly | Pathogenic
(Dec 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:12776563-12776564
- GRCh38:
- Chr19:12665749-12665750
| MAN2B1 | H72fs | Craniosynostosis syndrome, Intellectual disability | Pathogenic
(Apr 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:45390611
- GRCh38:
- Chr6:45422874
| RUNX2 | V100I, V114I | Craniosynostosis syndrome | Uncertain significance
(Mar 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38282102
- GRCh38:
- Chr8:38424584
| FGFR1 | | Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38274947
- GRCh38:
- Chr8:38417429
| FGFR1 | | Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
| Benign/Likely benign
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38271456
- GRCh38:
- Chr8:38413938
| FGFR1 | V758M, V665M, V756M, V789M, V669M, V754M, V667M, V748M | not provided, Trigonocephaly 1, Craniosynostosis syndrome,
Osteoglophonic dysplasia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38270915
- GRCh38:
- Chr8:38413397
| FGFR1 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38270218
- GRCh38:
- Chr8:38412700
| LOC102723716, FGFR1 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38270091
- GRCh38:
- Chr8:38412573
| FGFR1, LOC102723716 | T770M, T681M, T768M | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38269423
- GRCh38:
- Chr8:38411905
| FGFR1, LOC102723716 | | Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38325965
- GRCh38:
- Chr8:38468447
| FGFR1 | | Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38326157
- GRCh38:
- Chr8:38468639
| FGFR1 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38325962
- GRCh38:
- Chr8:38468444
| FGFR1 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38325932
- GRCh38:
- Chr8:38468414
| FGFR1 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38325730
- GRCh38:
- Chr8:38468212
| FGFR1 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38325527
- GRCh38:
- Chr8:38468009
| FGFR1, LOC130000232 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38325526
- GRCh38:
- Chr8:38468008
| FGFR1, LOC130000232 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38287284
- GRCh38:
- Chr8:38429766
| FGFR1 | V125M, V84M, V92M | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
| Conflicting interpretations of pathogenicity
(Mar 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:38277071
- GRCh38:
- Chr8:38419553
| FGFR1 | P420A, P331A, P414A, P453A, P333A, P422A | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38273529
- GRCh38:
- Chr8:38416011
| FGFR1 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38270894
- GRCh38:
- Chr8:38413376
| FGFR1 | | Trigonocephaly 1, Osteoglophonic dysplasia, Craniosynostosis syndrome,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38270884
- GRCh38:
- Chr8:38413366
| FGFR1 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38270189
- GRCh38:
- Chr8:38412671
| FGFR1, LOC102723716 | | Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Craniosynostosis syndrome,
Osteoglophonic dysplasia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38270060
- GRCh38:
- Chr8:38412542
| FGFR1, LOC102723716 | K691N, K780N, K778N | Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Craniosynostosis syndrome,
Osteoglophonic dysplasia | Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38270022
- GRCh38:
- Chr8:38412504
| FGFR1, LOC102723716 | P704R, P793R, P791R | Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Feb 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38269700
- GRCh38:
- Chr8:38412182
| FGFR1, LOC102723716 | | Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38325688
- GRCh38:
- Chr8:38468170
| FGFR1, LOC130000233 | | Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38314897
- GRCh38:
- Chr8:38457379
| FGFR1 | P56L, P23L | Craniosynostosis syndrome, Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia,
not provided, Trigonocephaly 1 | Conflicting interpretations of pathogenicity
(Feb 6, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:38272101
- GRCh38:
- Chr8:38414583
| FGFR1 | R586P, R675P, R582P, R584P, R665P, R706P, R671P, R673P | Trigonocephaly 1, Craniosynostosis syndrome, not provided,
Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia | Conflicting interpretations of pathogenicity
(Oct 27, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:38271555
- GRCh38:
- Chr8:38414037
| FGFR1 | | Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38271216
- GRCh38:
- Chr8:38413698
| FGFR1 | P707L, P709L, P711L, P798L, P800L, P831L, P790L | Trigonocephaly 1, Craniosynostosis syndrome, Pfeiffer syndrome,
Hypogonadotropic hypogonadism 2 with or without anosmia, Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia
| Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:38271034
- GRCh38:
- Chr8:38413516
| FGFR1 | | Craniosynostosis syndrome, Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia,
Trigonocephaly 1, Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis,
Hartsfield-Bixler-Demyer syndrome, Trigonocephaly 1 ...see more | Uncertain significance
(Apr 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38270344
- GRCh38:
- Chr8:38412826
| FGFR1, LOC102723716 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38270327
- GRCh38:
- Chr8:38412809
| FGFR1, LOC102723716 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38270155
- GRCh38:
- Chr8:38412637
| FGFR1, LOC102723716 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38269997
- GRCh38:
- Chr8:38412479
| FGFR1, LOC102723716 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38269323
- GRCh38:
- Chr8:38411805
| FGFR1, LOC102723716 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38268738
- GRCh38:
- Chr8:38411220
| FGFR1, LOC102723716 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38326151
- GRCh38:
- Chr8:38468633
| FGFR1 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38326127
- GRCh38:
- Chr8:38468609
| FGFR1 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38325876
- GRCh38:
- Chr8:38468358
| FGFR1 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38325854
- GRCh38:
- Chr8:38468336
| FGFR1 | | Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38271164
- GRCh38:
- Chr8:38413646
| FGFR1 | | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Trigonocephaly 1,
Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia, Craniosynostosis syndrome
| Conflicting interpretations of pathogenicity
(Aug 17, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:38270943
- GRCh38:
- Chr8:38413425
| FGFR1 | | Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia, Craniosynostosis syndrome,
Trigonocephaly 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38270934
- GRCh38:
- Chr8:38413416
| FGFR1 | | Hypogonadotropic hypogonadism 2 with or without anosmia, Craniosynostosis syndrome, Trigonocephaly 1,
Osteoglophonic dysplasia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38270801
- GRCh38:
- Chr8:38413283
| FGFR1 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38270755
- GRCh38:
- Chr8:38413237
| FGFR1 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38270152
- GRCh38:
- Chr8:38412634
| FGFR1, LOC102723716 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38269470
- GRCh38:
- Chr8:38411952
| FGFR1, LOC102723716 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38269435
- GRCh38:
- Chr8:38411917
| FGFR1, LOC102723716 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38269164
- GRCh38:
- Chr8:38411646
| FGFR1, LOC102723716 | | Craniosynostosis syndrome, Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia,
Osteoglophonic dysplasia | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:38326259
- GRCh38:
- Chr8:38468741
| FGFR1 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38326165
- GRCh38:
- Chr8:38468647
| FGFR1 | | Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38268701
- GRCh38:
- Chr8:38411183
| FGFR1, LOC102723716 | | Craniosynostosis syndrome, Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia,
Osteoglophonic dysplasia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38325988
- GRCh38:
- Chr8:38468470
| FGFR1 | | Hypogonadotropic hypogonadism 2 with or without anosmia, Craniosynostosis syndrome, not provided,
Trigonocephaly 1, Osteoglophonic dysplasia | Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:38325844
- GRCh38:
- Chr8:38468326
| FGFR1 | | Trigonocephaly 1, Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia,
Craniosynostosis syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38325823
- GRCh38:
- Chr8:38468305
| FGFR1 | | Hypogonadotropic hypogonadism 2 with or without anosmia, Trigonocephaly 1, Osteoglophonic dysplasia,
Craniosynostosis syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38325673
- GRCh38:
- Chr8:38468155
| FGFR1, LOC130000233 | | Craniosynostosis syndrome, Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia,
Osteoglophonic dysplasia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38325619
- GRCh38:
- Chr8:38468101
| FGFR1, LOC130000233 | | Craniosynostosis syndrome, Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia,
Osteoglophonic dysplasia | Benign/Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38287469
- GRCh38:
- Chr8:38429951
| FGFR1 | | Hypogonadotropic hypogonadism 2 with or without anosmia, Trigonocephaly 1, Osteoglophonic dysplasia,
Craniosynostosis syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38283644
- GRCh38:
- Chr8:38426126
| FGFR1 | | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Trigonocephaly 1,
Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia, Craniosynostosis syndrome
| Conflicting interpretations of pathogenicity
(May 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:123258119
- GRCh38:
- Chr10:121498605
| FGFR2 | D293G, D405G, D433G, D522G, D404G, D409G, D519G, D406G, D521G, D432G | FGFR2-related craniosynostosis, Craniosynostosis syndrome, Isolated coronal synostosis,
Saethre-Chotzen syndrome, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome
| Conflicting interpretations of pathogenicity
(Jun 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:123246880
- GRCh38:
- Chr10:121487366
| FGFR2 | H594R, H565R, H570R, H683R, H680R, H454R, H566R, H567R, H593R, H682R | Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123239115
- GRCh38:
- Chr10:121479601
| FGFR2 | V702I | Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123357928
- GRCh38:
- Chr10:121598414
| FGFR2 | | Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123357562
- GRCh38:
- Chr10:121598048
| FGFR2 | | Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123357498
- GRCh38:
- Chr10:121597984
| FGFR2 | | Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123353299
- GRCh38:
- Chr10:121593785
| FGFR2 | | FGFR2-related craniosynostosis, Craniosynostosis syndrome, Isolated coronal synostosis,
Saethre-Chotzen syndrome, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis
| Conflicting interpretations of pathogenicity
(Sep 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:123357915
- GRCh38:
- Chr10:121598401
| FGFR2 | | Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123353392
- GRCh38:
- Chr10:121593878
| FGFR2 | | Craniosynostosis syndrome, Isolated coronal synostosis, not provided,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome
| Benign/Likely benign
(May 26, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123353241
- GRCh38:
- Chr10:121593727
| FGFR2 | T31S | Craniofacial dysostosis, Saethre-Chotzen syndrome, Craniosynostosis syndrome,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123260416
- GRCh38:
- Chr10:121500902
| FGFR2 | | Craniofacial dysostosis, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123238641
- GRCh38:
- Chr10:121479127
| FGFR2 | | Craniofacial dysostosis, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123238131
- GRCh38:
- Chr10:121478617
| FGFR2 | | Saethre-Chotzen syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123238088
- GRCh38:
- Chr10:121478574
| FGFR2 | | Craniofacial dysostosis, Saethre-Chotzen syndrome, Craniosynostosis syndrome,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123324002
- GRCh38:
- Chr10:121564488
| FGFR2 | | FGFR2-related craniosynostosis, Saethre-Chotzen syndrome, not provided,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome,
Craniofacial dysostosis | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123279660
- GRCh38:
- Chr10:121520146
| FGFR2 | L143F, L169F, L258F, L30F | Craniofacial dysostosis, Saethre-Chotzen syndrome, FGFR2-related craniosynostosis,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Bent bone dysplasia syndrome 1,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Acrocephalosyndactyly type I,
Levy-Hollister syndrome, Saethre-Chotzen syndromeFamilial scaphocephaly syndrome, McGillivray type,
Stomach cancer, Jackson-Weiss syndrome, Pfeiffer syndrome,
Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, ...see more | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123274825
- GRCh38:
- Chr10:121515311
| FGFR2 | | Craniofacial dysostosis, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123238497
- GRCh38:
- Chr10:121478983
| FGFR2 | | Craniofacial dysostosis, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123237832
- GRCh38:
- Chr10:121478318
| FGFR2 | | Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123353348
- GRCh38:
- Chr10:121593834
| FGFR2 | | Craniofacial dysostosis, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray typeStomach cancer,
Jackson-Weiss syndrome, Pfeiffer syndrome, Craniosynostosis syndrome,
Beare-Stevenson cutis gyrata syndrome, ...see more | Uncertain significance
(May 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123357531
- GRCh38:
- Chr10:121598017
| FGFR2 | | Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |