| - GRCh37:
- Chr10:123276979
- GRCh38:
- Chr10:121517465
| FGFR2 | | Acrocephalosyndactyly type I | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123246958
- GRCh38:
- Chr10:121487444
| FGFR2 | | FGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Stomach cancerPfeiffer syndrome,
...see more | Likely benign
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123263408
- GRCh38:
- Chr10:121503894
| FGFR2 | | FGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type,
Acrocephalosyndactyly type I, Stomach cancer, Jackson-Weiss syndrome,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome,
Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisSaethre-Chotzen syndrome,
...see more | Likely benign
(Mar 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123324001
- GRCh38:
- Chr10:121564487
| FGFR2 | | Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Stomach cancer,
Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Saethre-Chotzen syndrome,
Craniofacial dysostosis, Pfeiffer syndrome, Levy-Hollister syndrome,
Acrocephalosyndactyly type I, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
...see more | Likely benign
(Aug 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123325146
- GRCh38:
- Chr10:121565632
| FGFR2 | R61H | FGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Jackson-Weiss syndrome, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Levy-Hollister syndromeAcrocephalosyndactyly type I,
...see more | Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:123274833
- GRCh38:
- Chr10:121515319
| FGFR2 | A134V, A363V, A274V, A362V, A247V, A250V, A273V | FGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Jackson-Weiss syndrome, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Levy-Hollister syndromeAcrocephalosyndactyly type I,
...see more | Uncertain significance
(Feb 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123263415
- GRCh38:
- Chr10:121503901
| FGFR2 | P328L, P331L, P441L, P444L, P355L, P327L, P354L, P215L, P326L, P443L | Bent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Levy-Hollister syndrome, Familial scaphocephaly syndrome, McGillivray type,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Stomach cancer,
Acrocephalosyndactyly type I, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
...see more | Uncertain significance
(Mar 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123274678
- GRCh38:
- Chr10:121515164
| FGFR2 | A302T, A414T, A299T, A186T, A415T, A325T, A326T | Bent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Levy-Hollister syndrome, Familial scaphocephaly syndrome, McGillivray type,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Stomach cancer,
Acrocephalosyndactyly type I, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
...see more | Uncertain significance
(Sep 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123239411
- GRCh38:
- Chr10:121479897
| FGFR2 | L581P, L694P, L810P, L692P, L693P, L697P, L807P, L720P, L809P | Acrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Bent bone dysplasia syndrome 1, Craniofacial dysostosis, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Pfeiffer syndrome, Stomach cancerFGFR2-related craniosynostosis,
...see more | Conflicting interpretations of pathogenicity
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:123247506
- GRCh38:
- Chr10:121487992
| FGFR2 | N546S, N550S, N573S, N663S, N434S, N545S, N574S, N662S, N547S, N660S | Acrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Bent bone dysplasia syndrome 1, Craniofacial dysostosis, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Pfeiffer syndrome, Stomach cancerFGFR2-related craniosynostosis,
...see more | Uncertain significance
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123274680
- GRCh38:
- Chr10:121515166
| FGFR2 | P298L, P185L, P301L, P324L, P325L, P414L, P413L | Acrocephalosyndactyly type I, Bent bone dysplasia syndrome 1, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Stomach cancer, Beare-Stevenson cutis gyrata syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndromeFGFR2-related craniosynostosis,
...see more | Uncertain significance
(Mar 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123279555
- GRCh38:
- Chr10:121520041
| FGFR2 | H204Y, H65Y, H178Y, H293Y | Acrocephalosyndactyly type I, Bent bone dysplasia syndrome 1, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Stomach cancer, Beare-Stevenson cutis gyrata syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndromeFGFR2-related craniosynostosis,
...see more | Uncertain significance
(Oct 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123274763
- GRCh38:
- Chr10:121515249
| FGFR2 | | Acrocephalosyndactyly type I, Levy-Hollister syndrome, Familial scaphocephaly syndrome, McGillivray type,
Beare-Stevenson cutis gyrata syndrome, Bent bone dysplasia syndrome 1, Stomach cancer,
Saethre-Chotzen syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosisFGFR2-related craniosynostosis,
not provided, ...see more | Likely benign
(Sep 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123258126-123258128
- GRCh38:
- Chr10:121498612-121498614
| FGFR2 | | Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Pfeiffer syndrome, Stomach cancernot provided,
...see more | Uncertain significance
(May 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123245027
- GRCh38:
- Chr10:121485513
| FGFR2 | M465V, M576V, M577V, M578V, M581V, M604V, M605V, M691V, M693V, M694V | Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Pfeiffer syndrome, Stomach cancernot provided,
...see more | Uncertain significance
(Oct 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123279651
- GRCh38:
- Chr10:121520137
| FGFR2 | G146R, G172R, G261R, G33R | Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Pfeiffer syndrome, Stomach cancernot provided,
...see more | Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123325041
- GRCh38:
- Chr10:121565527
| FGFR2 | G96D | FGFR2-related craniosynostosis, Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Bent bone dysplasia syndrome 1, Pfeiffer syndromeStomach cancer,
not provided, ...see more | Uncertain significance
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123247531
- GRCh38:
- Chr10:121488017
| FGFR2 | I426V, I537V, I538V, I539V, I542V, I565V, I566V, I652V, I654V, I655V | Acrocephalosyndactyly type I | Uncertain significance
(Jan 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123324966
- GRCh38:
- Chr10:121565452
| FGFR2 | M121T | not provided, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Bent bone dysplasia syndrome 1, Stomach cancer, Beare-Stevenson cutis gyrata syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndromeFamilial scaphocephaly syndrome, McGillivray type,
...see more | Uncertain significance
(Mar 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123256163
- GRCh38:
- Chr10:121496649
| FGFR2 | | FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosisBent bone dysplasia syndrome 1,
...see more | Likely benign
(Aug 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123263387
- GRCh38:
- Chr10:121503873
| FGFR2 | | FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosisBent bone dysplasia syndrome 1,
...see more | Likely benign
(May 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123276856
- GRCh38:
- Chr10:121517342
| FGFR2 | S126F, S239F, S265F, S354F | FGFR2-related craniosynostosis, Acrocephalosyndactyly type I | Pathogenic
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123239392-123239393
- GRCh38:
- Chr10:121479878-121479879
| FGFR2 | I587fs, I698fs, I699fs, I700fs, I703fs, I726fs, I813fs, I815fs, I816fs | Acrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndrome, Craniofacial dysostosis,
Stomach cancer, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Bent bone dysplasia syndrome 1, Saethre-Chotzen syndromeFGFR2-related craniosynostosis,
...see more | Uncertain significance
(Nov 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123263395
- GRCh38:
- Chr10:121503881
| FGFR2 | R222C, R333C, R334C, R335C, R338C, R361C, R362C, R448C, R450C, R451C | Acrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndrome, Craniofacial dysostosis,
Stomach cancer, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Bent bone dysplasia syndrome 1, Saethre-Chotzen syndromeFGFR2-related craniosynostosis,
not provided, ...see more | Uncertain significance
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123279644
- GRCh38:
- Chr10:121520130
| FGFR2 | P148L, P174L, P263L, P35L | Acrocephalosyndactyly type I, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Jackson-Weiss syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Levy-Hollister syndromeFGFR2-related craniosynostosis,
...see more | Uncertain significance
(Mar 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123353316
- GRCh38:
- Chr10:121593802
| FGFR2 | R6C | Acrocephalosyndactyly type I, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Jackson-Weiss syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Levy-Hollister syndromeFGFR2-related craniosynostosis,
Inborn genetic diseases, ...see more | Conflicting interpretations of pathogenicity
(Mar 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:123260334
- GRCh38:
- Chr10:121500820
| FGFR2 | | Bent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndrome, Stomach cancer,
Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Saethre-Chotzen syndrome, Levy-Hollister syndrome, Pfeiffer syndrome,
Jackson-Weiss syndrome, Acrocephalosyndactyly type IFGFR2-related craniosynostosis,
...see more | Uncertain significance
(Apr 13, 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:
- Chr10:123353348
- 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:
- Chr10:123279674
- GRCh38:
- Chr10:121520160
| FGFR2 | P138L, P253L, P164L, P25L | FGFR2-related craniosynostosis, Inborn genetic diseases, Acrocephalosyndactyly type I
| Conflicting interpretations of pathogenicity
(Sep 1, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:123260356
- GRCh38:
- Chr10:121500842
| FGFR2 | | Beare-Stevenson cutis gyrata syndrome, Stomach cancer, Acrocephalosyndactyly type I,
Bent bone dysplasia syndrome 1, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray typenot provided,
...see more | Likely benign
(Nov 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123353268
- GRCh38:
- Chr10:121593754
| FGFR2 | R22W | Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Pfeiffer syndrome,
Bent bone dysplasia syndrome 1, Stomach cancerFGFR2-related craniosynostosis,
...see more | Benign/Likely benign
(Jul 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123256148
- GRCh38:
- Chr10:121496634
| FGFR2 | | Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Stomach cancer, Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Pfeiffer syndrome, Craniofacial dysostosisFGFR2-related craniosynostosis,
...see more | Benign/Likely benign
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123243281
- GRCh38:
- Chr10:121483767
| FGFR2 | | Pfeiffer syndrome, Stomach cancer, Bent bone dysplasia syndrome 1,
Jackson-Weiss syndrome, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Beare-Stevenson cutis gyrata syndromeFGFR2-related craniosynostosis,
not provided, ...see more | Benign/Likely benign
(Aug 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123324080
- GRCh38:
- Chr10:121564566
| FGFR2 | | Pfeiffer syndrome, Stomach cancer, Bent bone dysplasia syndrome 1,
Jackson-Weiss syndrome, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Beare-Stevenson cutis gyrata syndromenot provided,
...see more | Likely benign
(Dec 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123247580
- GRCh38:
- Chr10:121488066
| FGFR2 | | FGFR2-related craniosynostosis, Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Beare-Stevenson cutis gyrata syndrome, Stomach cancer, Jackson-Weiss syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Levy-Hollister syndrome, Pfeiffer syndromeBent bone dysplasia syndrome 1,
not provided, ...see more | Likely benign
(Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123256174
- GRCh38:
- Chr10:121496660
| FGFR2 | R579W, R580W, R463W, R464W, R491W, R462W, R490W, R351W, R467W, R577W | Stomach cancer, Acrocephalosyndactyly type I, Craniofacial dysostosis,
Pfeiffer syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Beare-Stevenson cutis gyrata syndrome,
Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis ...see more | Uncertain significance
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123276928
- GRCh38:
- Chr10:121517414
| FGFR2 | R330Q, R102Q, R241Q, R215Q | Pfeiffer syndrome, Neoplasm of stomach, Acrocephalosyndactyly type I,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Craniofacial dysostosis, Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray typeCraniosynostosis syndrome,
Isolated coronal synostosis, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome,
not provided, Saethre-Chotzen syndrome, FGFR2-related craniosynostosis,
...see more | Conflicting interpretations of pathogenicity
(Apr 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:123279522
- GRCh38:
- Chr10:121520008
| FGFR2 | D304N, D76N, D189N, D215N | FGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Stomach cancer, Acrocephalosyndactyly type I,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome,
Pfeiffer syndrome, Jackson-Weiss syndromeLevy-Hollister syndrome,
...see more | Uncertain significance
(Dec 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123274832
- GRCh38:
- Chr10:121515318
| FGFR2 | | FGFR2-related craniosynostosis, Acrocephalosyndactyly type I, Familial scaphocephaly syndrome, McGillivray type,
Pfeiffer syndrome, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Stomach cancer,
Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisCraniofacial dysostosis,
not provided, ...see more | Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123324050
- GRCh38:
- Chr10:121564536
| FGFR2 | | Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I,
Stomach cancer, Craniofacial dysostosis, Familial scaphocephaly syndrome, McGillivray type,
Bent bone dysplasia syndrome 1, Jackson-Weiss syndrome, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Levy-Hollister syndromeFGFR2-related craniosynostosis,
not provided, ...see more | Likely benign
(Mar 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123325039
- GRCh38:
- Chr10:121565525
| FGFR2 | A97T | not provided, FGFR2-realated disorder, Beare-Stevenson cutis gyrata syndrome,
Acrocephalosyndactyly type I, Craniofacial dysostosis, Familial scaphocephaly syndrome, McGillivray type,
Saethre-Chotzen syndrome, Bent bone dysplasia syndrome 1, Stomach cancer,
Jackson-Weiss syndrome, Levy-Hollister syndromePfeiffer syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, FGFR2-related craniosynostosis, ...see more | Conflicting interpretations of pathogenicity
(Jul 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:123274768
- GRCh38:
- Chr10:121515254
| FGFR2 | G384R, G385R, G156R, G295R, G269R, G296R, G272R | Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Neoplasm of stomach,
Bent bone dysplasia syndrome 1, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Familial scaphocephaly syndrome, McGillivray type,
Saethre-Chotzen syndrome, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
...see more | Pathogenic
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123325014
- GRCh38:
- Chr10:121565500
| FGFR2 | Y105C | not provided, Bent bone dysplasia syndrome 1, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Neoplasm of stomach, Levy-Hollister syndrome,
Pfeiffer syndrome, Saethre-Chotzen syndrome, Bent bone dysplasia syndrome 1,
Jackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisCraniofacial dysostosis,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, FGFR2-related craniosynostosis,
...see more | Pathogenic/Likely pathogenic
(Jan 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123247498
- GRCh38:
- Chr10:121487984
| FGFR2 | | FGFR2-related craniosynostosis, Craniofacial dysostosis, Bent bone dysplasia syndrome 1,
Acrocephalosyndactyly type I, Stomach cancer, Jackson-Weiss syndrome,
Pfeiffer syndrome, Familial scaphocephaly syndrome, McGillivray type, Saethre-Chotzen syndrome,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndromeAntley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
not specified, ...see more | Benign/Likely benign
(Sep 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123256215
- GRCh38:
- Chr10:121496701
| FGFR2 | E565G, E566G, E337G, E477G, E449G, E450G, E448G, E453G, E476G, E563G | Bent bone dysplasia syndrome 1, Jackson-Weiss syndrome, Stomach cancer,
Levy-Hollister syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisFGFR2-related craniosynostosis,
not provided, Pfeiffer syndrome, ...see more | Pathogenic/Likely pathogenic
(Nov 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123276904
- GRCh38:
- Chr10:121517390
| FGFR2 | G338E, G249E, G110E, G223E | FGFR2-related craniosynostosis, Craniofacial dysostosis, Bent bone dysplasia syndrome 1,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Neoplasm of stomach,
Acrocephalosyndactyly type I, Pfeiffer syndromeBeare-Stevenson cutis gyrata syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, ...see more | Pathogenic/Likely pathogenic
(Jul 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123325190
- GRCh38:
- Chr10:121565676
| FGFR2 | Q46H | Bent bone dysplasia syndrome 1, Jackson-Weiss syndrome, Stomach cancer,
Levy-Hollister syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisCraniosynostosis, nonspecific,
FGFR2-related craniosynostosis, ...see more | Uncertain significance
(Feb 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123357621-123357622
- GRCh38:
- Chr10:121598107-121598108
| FGFR2 | | Craniosynostosis syndrome, Saethre-Chotzen syndrome, Levy-Hollister syndrome,
Jackson-Weiss syndrome, Acrocephalosyndactyly type I, Craniofacial dysostosis,
Pfeiffer syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome
| Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123325233-123325234
- GRCh38:
- Chr10:121565719-121565720
| FGFR2 | | Acrocephalosyndactyly type I, Craniosynostosis syndrome, Jackson-Weiss syndrome,
Pfeiffer syndrome, Isolated coronal synostosis, Craniofacial dysostosis,
FGFR2-related craniosynostosis, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome | Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:123239174
- GRCh38:
- Chr10:121479660
| FGFR2 | K682fs | Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Pfeiffer syndrome, Jackson-Weiss syndrome, Acrocephalosyndactyly type I,
not provided, Craniofacial dysostosis, Levy-Hollister syndrome,
Saethre-Chotzen syndrome | Conflicting interpretations of pathogenicity
(May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:123238727-123238730
- GRCh38:
- Chr10:121479213-121479216
| FGFR2 | | Acrocephalosyndactyly type I, Saethre-Chotzen syndrome, Craniosynostosis syndrome,
Jackson-Weiss syndrome, Pfeiffer syndrome, Isolated coronal synostosis,
Craniofacial dysostosis, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome
| Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123238634-123238635
- GRCh38:
- Chr10:121479120-121479121
| FGFR2 | | Jackson-Weiss syndrome, Acrocephalosyndactyly type I, Craniosynostosis syndrome,
Pfeiffer syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome, Levy-Hollister syndrome, Craniofacial dysostosis
| Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123238002
- GRCh38:
- Chr10:121478488
| FGFR2 | | Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome, Pfeiffer syndrome, Acrocephalosyndactyly type I,
Familial scaphocephaly syndrome, McGillivray type, Jackson-Weiss syndrome, Bent bone dysplasia syndrome 1,
Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisSaethre-Chotzen syndrome,
Stomach cancer, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Craniofacial dysostosis, ...see more | Uncertain significance
(Jan 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123237869-123237873
- GRCh38:
- Chr10:121478355-121478359
| FGFR2 | | Craniosynostosis syndrome, Levy-Hollister syndrome, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Pfeiffer syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome
| Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123298088
- GRCh38:
- Chr10:121538574
| FGFR2 | | Acrocephalosyndactyly type I, Familial scaphocephaly syndrome, McGillivray type, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Pfeiffer syndrome, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Beare-Stevenson cutis gyrata syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Bent bone dysplasia syndrome 1FGFR2-related craniosynostosis,
...see more | Likely benign
(Oct 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123353315
- GRCh38:
- Chr10:121593801
| FGFR2 | R6P | Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Levy-Hollister syndrome,
Craniofacial dysostosis, Bent bone dysplasia syndrome 1FGFR2-related craniosynostosis,
Craniosynostosis syndrome, not specified, not provided,
Isolated coronal synostosis, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome, ...see more | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123279674-123279676
- GRCh38:
- Chr10:121520160-121520162
| FGFR2 | P138F, P164F, P253F, P25F | Acrocephalosyndactyly type I | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:123276830
- GRCh38:
- Chr10:121517316
| FGFR2 | | FGFR2-related craniosynostosis, not provided, Pfeiffer syndrome
| Pathogenic
(Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123279562
- GRCh38:
- Chr10:121520048
| FGFR2 | W290C, W175C, W62C, W201C | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Pfeiffer syndrome, Jackson-Weiss syndrome,
Acrocephalosyndactyly type I, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome,
Stomach cancer, Bent bone dysplasia syndrome 1, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosisFGFR2-related craniosynostosis,
not provided, Pfeiffer syndrome, ...see more | Pathogenic
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123276974
- GRCh38:
- Chr10:121517460
| FGFR2 | A315S, A226S, A87S, A200S | Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Jackson-Weiss syndrome, Stomach cancer, Pfeiffer syndrome,
Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Levy-Hollister syndrome,
Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type IFGFR2-related craniosynostosis,
not provided, Craniofacial dysostosis, ...see more | Pathogenic
(Jun 4, 2022) | criteria provided, multiple submitters, no conflicts |
| | FGFR2 | | Acrocephalosyndactyly type I | Pathogenic
(Feb 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr10:123279676-123279677
- GRCh38:
- Chr10:121520162-121520163
| FGFR2 | S252F, S137F, S163F, S24F | Acrocephalosyndactyly type I | Likely pathogenic
(Sep 17, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123274794
- GRCh38:
- Chr10:121515280
| FGFR2 | Y375C, Y376C, Y263C, Y147C, Y286C, Y287C, Y260C | FGFR2-related craniosynostosis, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Jackson-Weiss syndrome, Pfeiffer syndrome,
Bent bone dysplasia syndrome 1, Neoplasm of stomach, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndromeAcrocephalosyndactyly type I,
not provided, Beare-Stevenson cutis gyrata syndrome, ...see more | Pathogenic/Likely pathogenic
(Mar 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123279674
- GRCh38:
- Chr10:121520160
| FGFR2 | P253R, P138R, P164R, P25R | FGFR2-related condition, FGFR2-related craniosynostosis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Pfeiffer syndrome, Jackson-Weiss syndrome, Acrocephalosyndactyly type I,
Neoplasm of stomach, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome,
Bent bone dysplasia syndrome 1, Saethre-Chotzen syndromeFamilial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, not provided, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Acrocephalosyndactyly type I, ...see more | Pathogenic/Likely pathogenic
(Aug 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123279677
- GRCh38:
- Chr10:121520163
| FGFR2 | S252W, S137W, S163W, S24W | FGFR2-related disorders, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Pfeiffer syndrome,
Jackson-Weiss syndrome, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Beare-Stevenson cutis gyrata syndrome, Stomach cancer, Bent bone dysplasia syndrome 1,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray typeCraniofacial dysostosis,
FGFR2-related craniosynostosis, not provided, Acrocephalosyndactyly type I,
...see more | Pathogenic
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123276885
- GRCh38:
- Chr10:121517371
| FGFR2 | | Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Jackson-Weiss syndrome, Stomach cancer, Pfeiffer syndrome,
Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Levy-Hollister syndrome,
Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type IFGFR2-related disorder,
FGFR2-related craniosynostosis, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Jackson-Weiss syndrome, Pfeiffer syndrome,
Bent bone dysplasia syndrome 1, Neoplasm of stomach, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Craniosynostosis syndrome, not provided, Pfeiffer syndrome,
Craniofacial dysostosis, Acrocephalosyndactyly type I, ...see more | Pathogenic
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123276892
- GRCh38:
- Chr10:121517378
| FGFR2 | C342Y, C253Y, C227Y, C114Y | FGFR2-related craniosynostosis, Craniosynostosis syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome,
Acrocephalosyndactyly type I, Craniofacial dysostosis, Pfeiffer syndrome,
Bent bone dysplasia syndrome 1, Neoplasm of stomachAntley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Levy-Hollister syndrome, not provided, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, ...see more | Pathogenic/Likely pathogenic
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |