| - GRCh37:
- Chr10:123246958
- GRCh38:
- Chr10:121487444
| FGFR2 | | Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome, Saethre-Chotzen syndrome,
FGFR2-related bent bone dysplasia, Gastric cancer, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Pfeiffer syndrome, Levy-Hollister syndromeFGFR2-related craniosynostosis,
...see more | Likely benign
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123263408
- GRCh38:
- Chr10:121503894
| FGFR2 | | Beare-Stevenson cutis gyrata syndrome, Gastric cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Crouzon syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Acrocephalosyndactyly type I, FGFR2-related bent bone dysplasia, Jackson-Weiss syndrome,
Pfeiffer syndrome, Levy-Hollister syndromeFGFR2-related craniosynostosis,
...see more | Likely benign
(Mar 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123324001
- GRCh38:
- Chr10:121564487
| FGFR2 | | Acrocephalosyndactyly type I, Gastric cancer, Jackson-Weiss syndrome,
FGFR2-related bent bone dysplasia, Beare-Stevenson cutis gyrata syndrome, Familial scaphocephaly syndrome, McGillivray type,
Crouzon syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Levy-Hollister syndromeFGFR2-related craniosynostosis,
...see more | Likely benign
(Aug 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123325146
- GRCh38:
- Chr10:121565632
| FGFR2 | R61H | Acrocephalosyndactyly type I, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome, Gastric cancer,
Pfeiffer syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, FGFR2-related bent bone dysplasiaFGFR2-related craniosynostosis,
...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 | Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Gastric cancer,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, FGFR2-related bent bone dysplasia,
Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome,
Jackson-Weiss syndrome, Levy-Hollister syndromeFGFR2-related craniosynostosis,
...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 | FGFR2-related craniosynostosis, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Acrocephalosyndactyly type I, FGFR2-related bent bone dysplasia, Gastric cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Levy-Hollister syndromePfeiffer syndrome,
...see more | Uncertain significance
(Mar 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75614972
- GRCh38:
- Chr7:75985654
| POR | V439M, V489M, V507M | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123274678
- GRCh38:
- Chr10:121515164
| FGFR2 | A302T, A414T, A299T, A186T, A415T, A325T, A326T | FGFR2-related craniosynostosis, Acrocephalosyndactyly type I, FGFR2-related bent bone dysplasia,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Pfeiffer syndrome,
Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray typeGastric cancer,
...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 | Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome,
Gastric cancer, Levy-Hollister syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Crouzon syndrome, FGFR2-related bent bone dysplasiaFGFR2-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 | Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome,
Gastric cancer, Levy-Hollister syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Crouzon syndrome, FGFR2-related bent bone dysplasiaFGFR2-related craniosynostosis,
...see more | Uncertain significance
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75611540
- GRCh38:
- Chr7:75982222
| POR | | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | Pathogenic
(Apr 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75614953-75614954
- GRCh38:
- Chr7:75985635-75985636
| POR | G433S, G483S, G501S | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Uncertain significance
(Dec 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123274680
- GRCh38:
- Chr10:121515166
| FGFR2 | P298L, P185L, P301L, P324L, P325L, P414L, P413L | FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome,
Acrocephalosyndactyly type I, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, FGFR2-related bent bone dysplasiaGastric cancer,
...see more | Uncertain significance
(Mar 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123279555
- GRCh38:
- Chr10:121520041
| FGFR2 | H204Y, H65Y, H178Y, H293Y | FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome,
Acrocephalosyndactyly type I, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, FGFR2-related bent bone dysplasiaGastric cancer,
...see more | Uncertain significance
(Oct 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75615084
- GRCh38:
- Chr7:75985766
| POR | T476M, T526M, T544M | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, not specified | Uncertain significance
(Dec 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123274763
- GRCh38:
- Chr10:121515249
| FGFR2 | | not provided, FGFR2-related craniosynostosis, Acrocephalosyndactyly type I,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray typeFGFR2-related bent bone dysplasia,
Gastric cancer, ...see more | Likely benign
(Sep 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123258126-123258128
- GRCh38:
- Chr10:121498612-121498614
| FGFR2 | | not provided, FGFR2-related bent bone dysplasia, Beare-Stevenson cutis gyrata syndrome,
Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome, Acrocephalosyndactyly type I,
Gastric cancer, Levy-Hollister syndrome, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisJackson-Weiss syndrome,
...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 | not provided, Acrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Pfeiffer syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, FGFR2-related bent bone dysplasiaGastric cancer,
...see more | Uncertain significance
(Oct 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123279651
- GRCh38:
- Chr10:121520137
| FGFR2 | G146R, G172R, G261R, G33R | not provided, FGFR2-related bent bone dysplasia, Familial scaphocephaly syndrome, McGillivray type,
Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Levy-Hollister syndrome, Acrocephalosyndactyly type I,
Gastric cancer, Pfeiffer syndromeJackson-Weiss syndrome,
...see more | Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123325041
- GRCh38:
- Chr10:121565527
| FGFR2 | G96D | FGFR2-related bent bone dysplasia, Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Levy-Hollister syndrome, Acrocephalosyndactyly type I, Gastric cancer,
Pfeiffer syndrome, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
not provided, ...see more | Uncertain significance
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75615481
- GRCh38:
- Chr7:75986163
| POR | Y554C, Y604C, Y622C | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,
Congenital adrenal hyperplasia, not provided | Likely pathogenic
(Nov 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123324966
- GRCh38:
- Chr10:121565452
| FGFR2 | M121T | not provided, FGFR2-related bent bone dysplasia, Pfeiffer syndrome,
Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome, Acrocephalosyndactyly type I,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Gastric cancer, Saethre-Chotzen syndromeLevy-Hollister syndrome,
...see more | Uncertain significance
(Mar 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123256163
- GRCh38:
- Chr10:121496649
| FGFR2 | | Acrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome,
Crouzon syndrome, FGFR2-related bent bone dysplasia, Gastric cancer,
Levy-Hollister syndrome, Jackson-Weiss syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisFGFR2-related craniosynostosis,
...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,
FGFR2-related bent bone dysplasia, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Pfeiffer syndromeGastric cancer,
...see more | Likely benign
(May 25, 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 | Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Crouzon syndrome,
FGFR2-related bent bone dysplasia, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Gastric cancerFGFR2-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 | FGFR2-related craniosynostosis, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Gastric cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome,
FGFR2-related bent bone dysplasia, Jackson-Weiss syndromeLevy-Hollister syndrome,
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 | FGFR2-related craniosynostosis, 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, Crouzon syndrome, FGFR2-related bent bone dysplasia,
Gastric cancer, Beare-Stevenson cutis gyrata syndromePfeiffer syndrome,
...see more | Uncertain significance
(Mar 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123353316
- GRCh38:
- Chr10:121593802
| FGFR2 | R6C | FGFR2-related craniosynostosis, 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, Crouzon syndrome, FGFR2-related bent bone dysplasia,
Gastric cancer, Beare-Stevenson cutis gyrata syndromePfeiffer syndrome,
Inborn genetic diseases, ...see more | Conflicting interpretations of pathogenicity
(Mar 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:123260334
- GRCh38:
- Chr10:121500820
| FGFR2 | | Pfeiffer syndrome, Gastric cancer, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Crouzon syndrome, FGFR2-related bent bone dysplasiaFGFR2-related craniosynostosis,
...see more | Uncertain significance
(Apr 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123244927
- GRCh38:
- Chr10:121485413
| FGFR2 | A638G, A726G, A727G, A609G, A610G, A637G, A724G, A498G, A614G, A611G | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | Uncertain significance
(Dec 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123244952
- GRCh38:
- Chr10:121485438
| FGFR2 | E601Q, E602Q, E603Q, E716Q, E718Q, E719Q, E490Q, E629Q, E630Q, E606Q | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | Uncertain significance
(Oct 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75614245
- GRCh38:
- Chr7:75984927
| POR | R403H, R421H | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, not provided | Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75615286
- GRCh38:
- Chr7:75985968
| POR | S519L, S569L, S587L | not provided, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Conflicting interpretations of pathogenicity
(Oct 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:75608851
- GRCh38:
- Chr7:75979533
| POR | R104H, R122H | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Uncertain significance
(Mar 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123279660
- GRCh38:
- Chr10:121520146
| FGFR2 | L143F, L169F, L258F, L30F | Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome, Crouzon syndrome,
Saethre-Chotzen syndrome, Acrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, FGFR2-related bent bone dysplasiaJackson-Weiss syndrome,
Levy-Hollister syndrome, Gastric cancer, Pfeiffer syndrome,
FGFR2-related craniosynostosis, Isolated coronal synostosis, ...see more | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123353348
- GRCh38:
- Chr10:121593834
| FGFR2 | | Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome,
Saethre-Chotzen syndrome, Acrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, FGFR2-related bent bone dysplasiaJackson-Weiss syndrome,
Levy-Hollister syndrome, Gastric cancer, Pfeiffer syndrome,
Isolated coronal synostosis, ...see more | Uncertain significance
(May 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123260356
- GRCh38:
- Chr10:121500842
| FGFR2 | | Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Levy-Hollister syndrome,
Gastric cancer, Crouzon syndrome, FGFR2-related bent bone dysplasia,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Pfeiffer syndrome, Acrocephalosyndactyly type I,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndromenot provided,
...see more | Likely benign
(Nov 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123353268
- GRCh38:
- Chr10:121593754
| FGFR2 | R22W | Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Levy-Hollister syndrome,
Gastric cancer, Crouzon syndrome, FGFR2-related bent bone dysplasia,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Pfeiffer syndrome, Acrocephalosyndactyly type I,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
not provided, ...see more | Benign/Likely benign
(Jul 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123256148
- GRCh38:
- Chr10:121496634
| FGFR2 | | FGFR2-related craniosynostosis, FGFR2-related bent bone dysplasia, Crouzon syndrome,
Gastric cancer, Pfeiffer syndrome, Acrocephalosyndactyly type I,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndromeFamilial scaphocephaly syndrome, McGillivray type,
...see more | Benign/Likely benign
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123243281
- GRCh38:
- Chr10:121483767
| FGFR2 | | not provided, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Jackson-Weiss syndrome,
Pfeiffer syndrome, Levy-Hollister syndrome, FGFR2-related bent bone dysplasia,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type IGastric cancer,
FGFR2-related craniosynostosis, ...see more | Benign/Likely benign
(Aug 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123324080
- GRCh38:
- Chr10:121564566
| FGFR2 | | not provided, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Jackson-Weiss syndrome,
Pfeiffer syndrome, Levy-Hollister syndrome, FGFR2-related bent bone dysplasia,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type IGastric cancer,
...see more | Likely benign
(Dec 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123247580
- GRCh38:
- Chr10:121488066
| FGFR2 | | Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome,
Crouzon syndrome, Gastric cancer, Acrocephalosyndactyly type I,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, FGFR2-related bent bone dysplasianot provided,
FGFR2-related craniosynostosis, ...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 | Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome,
FGFR2-related bent bone dysplasia, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Gastric cancer,
Crouzon syndrome, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type ...see more | Uncertain significance
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123276928
- GRCh38:
- Chr10:121517414
| FGFR2 | R330Q, R102Q, R241Q, R215Q | Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome,
FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Pfeiffer syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Levy-Hollister syndrome, Neoplasm of stomachAcrocephalosyndactyly type I,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome, FGFR2-related bent bone dysplasia,
not provided, Craniosynostosis syndrome, Isolated coronal synostosis,
...see more | Conflicting interpretations of pathogenicity
(Apr 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:123279522
- GRCh38:
- Chr10:121520008
| FGFR2 | D304N, D76N, D189N, D215N | Beare-Stevenson cutis gyrata syndrome, Levy-Hollister syndrome, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I,
FGFR2-related bent bone dysplasia, Gastric cancer, Jackson-Weiss syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndromeFGFR2-related craniosynostosis,
...see more | Uncertain significance
(Dec 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123274832
- GRCh38:
- Chr10:121515318
| FGFR2 | | not provided, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Gastric cancer, Beare-Stevenson cutis gyrata syndrome, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Jackson-Weiss syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndromeFGFR2-related bent bone dysplasia,
FGFR2-related craniosynostosis, ...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, Jackson-Weiss syndrome, Pfeiffer syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
FGFR2-related bent bone dysplasia, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome,
Acrocephalosyndactyly type I, Gastric cancerFGFR2-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 | Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome,
FGFR2-related bent bone dysplasia, Jackson-Weiss syndrome, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Gastric cancer,
Acrocephalosyndactyly type I, Levy-Hollister syndromenot provided,
FGFR2-realated disorder, 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 | FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome, Familial scaphocephaly syndrome, McGillivray type,
Crouzon syndrome, Jackson-Weiss syndrome, FGFR2-related bent bone dysplasia,
Acrocephalosyndactyly type I, Saethre-Chotzen syndrome, Levy-Hollister syndrome,
Neoplasm of stomach, Pfeiffer syndromeAntley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
...see more | Pathogenic
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75601756
- GRCh38:
- Chr7:75972438
| POR | F69L, F87L | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123325014
- GRCh38:
- Chr10:121565500
| FGFR2 | Y105C | FGFR2-related craniosynostosis, Pfeiffer syndrome, FGFR2-related bent bone dysplasia,
Acrocephalosyndactyly type I, Crouzon syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisNeoplasm of stomach,
not provided, FGFR2-related bent bone dysplasia, Crouzon syndrome,
...see more | Pathogenic/Likely pathogenic
(Jan 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123247498
- GRCh38:
- Chr10:121487984
| FGFR2 | | FGFR2-related craniosynostosis, not provided, Acrocephalosyndactyly type I,
Beare-Stevenson cutis gyrata syndrome, Gastric cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Crouzon syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Pfeiffer syndrome, Saethre-Chotzen syndromeFamilial scaphocephaly syndrome, McGillivray type,
FGFR2-related bent bone dysplasia, 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 | not provided, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Crouzon syndrome, Jackson-Weiss syndrome, FGFR2-related bent bone dysplasia,
Levy-Hollister syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type IGastric cancer,
Pfeiffer syndrome, FGFR2-related craniosynostosis, ...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, Acrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome,
Neoplasm of stomach, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray typeFGFR2-related bent bone dysplasia,
Crouzon syndrome, ...see more | Pathogenic/Likely pathogenic
(Jul 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123325190
- GRCh38:
- Chr10:121565676
| FGFR2 | Q46H | Craniosynostosis, nonspecific, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Crouzon syndrome, Jackson-Weiss syndrome, FGFR2-related bent bone dysplasia,
Levy-Hollister syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type IGastric cancer,
FGFR2-related craniosynostosis, ...see more | Uncertain significance
(Feb 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123238002
- GRCh38:
- Chr10:121478488
| FGFR2 | | FGFR2-related bent bone dysplasia, Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome,
Saethre-Chotzen syndrome, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome,
Acrocephalosyndactyly type I, Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Gastric cancer, Jackson-Weiss syndromeCraniosynostosis syndrome,
Saethre-Chotzen syndrome, Isolated coronal synostosis, Crouzon syndrome,
Beare-Stevenson cutis gyrata syndrome, ...see more | Uncertain significance
(Jan 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123298088
- GRCh38:
- Chr10:121538574
| FGFR2 | | Beare-Stevenson cutis gyrata syndrome, Levy-Hollister syndrome, Pfeiffer syndrome,
Gastric cancer, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, FGFR2-related bent bone dysplasiaFGFR2-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, Levy-Hollister syndrome, Pfeiffer syndrome,
Gastric cancer, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, FGFR2-related bent bone dysplasiaFGFR2-related craniosynostosis,
not specified, Craniosynostosis syndrome, not provided,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome,
Saethre-Chotzen syndrome, ...see more | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75614450-75614451
- GRCh38:
- Chr7:75985132-75985133
| POR | I441fs, I459fs | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
not provided, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Pathogenic/Likely pathogenic
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75614497
- GRCh38:
- Chr7:75985179
| POR | R454H, R472H | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Pathogenic/Likely pathogenic
(May 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123279562
- GRCh38:
- Chr10:121520048
| FGFR2 | W290C, W175C, W62C, W201C | Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome,
Acrocephalosyndactyly type I, Gastric cancer, FGFR2-related bent bone dysplasia,
Jackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Pfeiffer syndrome,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndromeFGFR2-related craniosynostosis,
not provided, Pfeiffer syndrome, ...see more | Pathogenic
(Jun 9, 2022) | 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, Crouzon syndrome,
Acrocephalosyndactyly type I, Gastric cancer, FGFR2-related bent bone dysplasia,
Jackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Pfeiffer syndrome,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndromeFGFR2-related craniosynostosis,
not provided, Crouzon syndrome, ...see more | Pathogenic
(Jun 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123276865
- GRCh38:
- Chr10:121517351
| FGFR2 | S351C, S123C, S262C, S236C | FGFR2-related craniosynostosis, not provided, Pfeiffer syndrome
| Pathogenic
(Dec 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123274794
- GRCh38:
- Chr10:121515280
| FGFR2 | Y375C, Y376C, Y263C, Y147C, Y286C, Y287C, Y260C | FGFR2-related craniosynostosis, FGFR2-related bent bone dysplasia, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Neoplasm of stomach,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Jackson-Weiss syndrome, Pfeiffer syndrome,
Crouzon syndrome, Beare-Stevenson cutis gyrata syndromeLevy-Hollister syndrome,
not provided, Beare-Stevenson cutis gyrata syndrome, ...see more | Pathogenic/Likely pathogenic
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123279674
- GRCh38:
- Chr10:121520160
| FGFR2 | P253R, P138R, P164R, P25R | FGFR2-related craniosynostosis, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Crouzon syndrome, Acrocephalosyndactyly type I, FGFR2-related bent bone dysplasia,
Jackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Pfeiffer syndrome,
Levy-Hollister syndrome, Neoplasm of stomachBeare-Stevenson cutis gyrata syndrome,
not provided, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I,
...see more | Pathogenic/Likely pathogenic
(Nov 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123279677
- GRCh38:
- Chr10:121520163
| FGFR2 | S252W, S137W, S163W, S24W | Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome,
Acrocephalosyndactyly type I, Gastric cancer, FGFR2-related bent bone dysplasia,
Jackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Pfeiffer syndrome,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndromeFGFR2-related craniosynostosis,
Metaphyseal dysplasia, anetoderma, and optic atrophy, not provided, Acrocephalosyndactyly type I,
...see more | Pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123276885
- GRCh38:
- Chr10:121517371
| FGFR2 | | FGFR2-related disorder, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Crouzon syndrome, Acrocephalosyndactyly type I, Gastric cancer,
FGFR2-related bent bone dysplasia, Jackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Pfeiffer syndrome, Levy-Hollister syndromeBeare-Stevenson cutis gyrata syndrome,
FGFR2-related craniosynostosis, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Crouzon syndrome, Acrocephalosyndactyly type I, FGFR2-related bent bone dysplasia,
Jackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Pfeiffer syndrome,
Levy-Hollister syndrome, Neoplasm of stomach, Beare-Stevenson cutis gyrata syndrome,
Craniosynostosis syndrome, not provided, Crouzon syndrome,
Acrocephalosyndactyly type I, Pfeiffer syndrome, ...see more | Pathogenic
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123276893
- GRCh38:
- Chr10:121517379
| FGFR2 | C342S, C227S, C253S, C114S | FGFR2-related craniosynostosis, not provided, Crouzon syndrome,
Pfeiffer syndrome | Pathogenic
(Jan 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123276893
- GRCh38:
- Chr10:121517379
| FGFR2 | C342R, C114R, C253R, C227R | FGFR2-related craniosynostosis, not provided, Pfeiffer syndrome
| Pathogenic
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123276892
- GRCh38:
- Chr10:121517378
| FGFR2 | C342Y, C253Y, C227Y, C114Y | FGFR2-related craniosynostosis, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Crouzon syndrome, Acrocephalosyndactyly type I, FGFR2-related bent bone dysplasia,
Jackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Pfeiffer syndrome,
Levy-Hollister syndrome, Neoplasm of stomachBeare-Stevenson cutis gyrata syndrome,
Craniosynostosis syndrome, not provided, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Crouzon syndrome, ...see more | Pathogenic/Likely pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |