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Items: 1 to 100 of 150

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr10:123246958
GRCh38:
Chr10:121487444
FGFR2FGFR2-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
2.
GRCh37:
Chr10:123263408
GRCh38:
Chr10:121503894
FGFR2FGFR2-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
3.
GRCh37:
Chr10:123324001
GRCh38:
Chr10:121564487
FGFR2Beare-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
4.
GRCh37:
Chr10:123325146
GRCh38:
Chr10:121565632
FGFR2R61HFGFR2-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
5.
GRCh37:
Chr10:123274833
GRCh38:
Chr10:121515319
FGFR2A134V, A363V, A274V, A362V, A247V, A250V, A273VFGFR2-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
6.
GRCh37:
Chr10:123263415
GRCh38:
Chr10:121503901
FGFR2P328L, P331L, P441L, P444L, P355L, P327L, P354L, P215L, P326L, P443LBent 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
7.
GRCh37:
Chr10:123274678
GRCh38:
Chr10:121515164
FGFR2A302T, A414T, A299T, A186T, A415T, A325T, A326TBent 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
8.
GRCh37:
Chr10:123239411
GRCh38:
Chr10:121479897
FGFR2L581P, L694P, L810P, L692P, L693P, L697P, L807P, L720P, L809PAcrocephalosyndactyly 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
9.
GRCh37:
Chr10:123247506
GRCh38:
Chr10:121487992
FGFR2N546S, N550S, N573S, N663S, N434S, N545S, N574S, N662S, N547S, N660SAcrocephalosyndactyly 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
10.
GRCh37:
Chr10:123274680
GRCh38:
Chr10:121515166
FGFR2P298L, P185L, P301L, P324L, P325L, P414L, P413LAcrocephalosyndactyly 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
11.
GRCh37:
Chr10:123279555
GRCh38:
Chr10:121520041
FGFR2H204Y, H65Y, H178Y, H293YAcrocephalosyndactyly 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
12.
GRCh37:
Chr10:123274763
GRCh38:
Chr10:121515249
FGFR2Acrocephalosyndactyly 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
13.
GRCh37:
Chr10:123258126-123258128
GRCh38:
Chr10:121498612-121498614
FGFR2Acrocephalosyndactyly 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
14.
GRCh37:
Chr10:123245027
GRCh38:
Chr10:121485513
FGFR2M465V, M576V, M577V, M578V, M581V, M604V, M605V, M691V, M693V, M694VAcrocephalosyndactyly 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
15.
GRCh37:
Chr10:123279651
GRCh38:
Chr10:121520137
FGFR2G146R, G172R, G261R, G33RAcrocephalosyndactyly 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
16.
GRCh37:
Chr10:123325041
GRCh38:
Chr10:121565527
FGFR2G96DFGFR2-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
17.
GRCh37:
Chr10:123324966
GRCh38:
Chr10:121565452
FGFR2M121Tnot 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
18.
GRCh37:
Chr10:123256163
GRCh38:
Chr10:121496649
FGFR2FGFR2-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
19.
GRCh37:
Chr10:123263387
GRCh38:
Chr10:121503873
FGFR2FGFR2-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
20.
GRCh37:
Chr10:123239392-123239393
GRCh38:
Chr10:121479878-121479879
FGFR2I587fs, I698fs, I699fs, I700fs, I703fs, I726fs, I813fs, I815fs, I816fsAcrocephalosyndactyly 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
21.
GRCh37:
Chr10:123263395
GRCh38:
Chr10:121503881
FGFR2R222C, R333C, R334C, R335C, R338C, R361C, R362C, R448C, R450C, R451CAcrocephalosyndactyly 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
22.
GRCh37:
Chr10:123279644
GRCh38:
Chr10:121520130
FGFR2P148L, P174L, P263L, P35LAcrocephalosyndactyly 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
23.
GRCh37:
Chr10:123353316
GRCh38:
Chr10:121593802
FGFR2R6CAcrocephalosyndactyly 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
24.
GRCh37:
Chr10:123260334
GRCh38:
Chr10:121500820
FGFR2Bent 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
25.
GRCh37:
Chr10:123258119
GRCh38:
Chr10:121498605
FGFR2D293G, D405G, D433G, D522G, D404G, D409G, D519G, D406G, D521G, D432GFGFR2-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
26.
GRCh37:
Chr10:123246880
GRCh38:
Chr10:121487366
FGFR2H594R, H565R, H570R, H683R, H680R, H454R, H566R, H567R, H593R, H682RCraniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr10:123239115
GRCh38:
Chr10:121479601
FGFR2V702ICraniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr10:123357928
GRCh38:
Chr10:121598414
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr10:123357562
GRCh38:
Chr10:121598048
FGFR2Isolated coronal synostosis, Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr10:123357498
GRCh38:
Chr10:121597984
FGFR2Isolated coronal synostosis, Craniosynostosis syndrome, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr10:123353299
GRCh38:
Chr10:121593785
FGFR2FGFR2-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
32.
GRCh37:
Chr10:123357915
GRCh38:
Chr10:121598401
FGFR2Isolated coronal synostosis, Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr10:123353392
GRCh38:
Chr10:121593878
FGFR2Craniosynostosis 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
34.
GRCh37:
Chr10:123353241
GRCh38:
Chr10:121593727
FGFR2T31SCraniofacial dysostosis, Saethre-Chotzen syndrome, Craniosynostosis syndrome,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
35.
GRCh37:
Chr10:123260416
GRCh38:
Chr10:121500902
FGFR2Craniofacial dysostosis, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
36.
GRCh37:
Chr10:123238641
GRCh38:
Chr10:121479127
FGFR2Craniofacial dysostosis, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr10:123238131
GRCh38:
Chr10:121478617
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr10:123238088
GRCh38:
Chr10:121478574
FGFR2Craniofacial dysostosis, Saethre-Chotzen syndrome, Craniosynostosis syndrome,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
39.
GRCh37:
Chr10:123324002
GRCh38:
Chr10:121564488
FGFR2FGFR2-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
40.
GRCh37:
Chr10:123279660
GRCh38:
Chr10:121520146
FGFR2L143F, L169F, L258F, L30FCraniofacial 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
41.
GRCh37:
Chr10:123274825
GRCh38:
Chr10:121515311
FGFR2Craniofacial dysostosis, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr10:123238497
GRCh38:
Chr10:121478983
FGFR2Craniofacial dysostosis, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr10:123237832
GRCh38:
Chr10:121478318
FGFR2Isolated coronal synostosis, Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
44.
GRCh37:
Chr10:123353348
GRCh38:
Chr10:121593834
FGFR2Craniofacial 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
45.
GRCh37:
Chr10:123357531
GRCh38:
Chr10:121598017
FGFR2Isolated coronal synostosis, Craniosynostosis syndrome, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
46.
GRCh37:
Chr10:123357521
GRCh38:
Chr10:121598007
FGFR2Isolated coronal synostosis, Craniosynostosis syndrome, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
47.
GRCh37:
Chr10:123353439
GRCh38:
Chr10:121593925
FGFR2Craniofacial dysostosis, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr10:123325127
GRCh38:
Chr10:121565613
FGFR2Craniofacial dysostosis, Saethre-Chotzen syndrome, FGFR2-related craniosynostosis,
Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome
Conflicting interpretations of pathogenicity
(Jul 1, 2022)		criteria provided, conflicting interpretations
49.
GRCh37:
Chr10:123298237
GRCh38:
Chr10:121538723
FGFR2Craniofacial dysostosis, Saethre-Chotzen syndrome, Craniosynostosis syndrome,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
50.
GRCh37:
Chr10:123274751
GRCh38:
Chr10:121515237
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
51.
GRCh37:
Chr10:123274705
GRCh38:
Chr10:121515191
FGFR2K290E, K293E, K177E, K317E, K406E, K316E, K405ECraniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
52.
GRCh37:
Chr10:123238908
GRCh38:
Chr10:121479394
FGFR2Craniofacial dysostosis, Craniosynostosis syndrome, Isolated coronal synostosis,
Saethre-Chotzen syndrome, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
53.
GRCh37:
Chr10:123357951
GRCh38:
Chr10:121598437
FGFR2Craniofacial dysostosis, Saethre-Chotzen syndrome, Craniosynostosis syndrome,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr10:123279652
GRCh38:
Chr10:121520138
FGFR2Saethre-Chotzen syndrome, FGFR2-related craniosynostosis, Isolated coronal synostosis,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome
Conflicting interpretations of pathogenicity
(Oct 18, 2021)		criteria provided, conflicting interpretations
55.
GRCh37:
Chr10:123260356
GRCh38:
Chr10:121500842
FGFR2Beare-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
56.
GRCh37:
Chr10:123353268
GRCh38:
Chr10:121593754
FGFR2R22WBeare-Stevenson cutis gyrata syndrome, Levy-Hollister syndrome, Pfeiffer syndrome,
Craniofacial dysostosis, Stomach cancer, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Bent bone dysplasia syndrome 1FGFR2-related craniosynostosis,
...see more		Benign/Likely benign
(Jul 12, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr10:123298140
GRCh38:
Chr10:121538626
FGFR2Isolated coronal synostosis, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome,
Craniosynostosis syndrome, not provided, Saethre-Chotzen syndrome
Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr10:123256148
GRCh38:
Chr10:121496634
FGFR2FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Acrocephalosyndactyly type I, Jackson-Weiss syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Levy-Hollister syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndromeBent bone dysplasia syndrome 1,
...see more		Benign/Likely benign
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr10:123243281
GRCh38:
Chr10:121483767
FGFR2Pfeiffer 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
60.
GRCh37:
Chr10:123324080
GRCh38:
Chr10:121564566
FGFR2Pfeiffer 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
61.
GRCh37:
Chr10:123247580
GRCh38:
Chr10:121488066
FGFR2FGFR2-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
62.
GRCh37:
Chr10:123256174
GRCh38:
Chr10:121496660
FGFR2R579W, R580W, R463W, R464W, R491W, R462W, R490W, R351W, R467W, R577WStomach 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
63.
GRCh37:
Chr10:123276928
GRCh38:
Chr10:121517414
FGFR2R330Q, R102Q, R241Q, R215QPfeiffer 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
64.
GRCh37:
Chr10:123279522
GRCh38:
Chr10:121520008
FGFR2D304N, D76N, D189N, D215NFGFR2-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
65.
GRCh37:
Chr10:123274832
GRCh38:
Chr10:121515318
FGFR2not provided, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Levy-Hollister syndrome, Pfeiffer syndrome,
Craniofacial dysostosis, Bent bone dysplasia syndrome 1Stomach cancer,
FGFR2-related craniosynostosis, ...see more		Likely benign
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr10:123244914
GRCh38:
Chr10:121485400
FGFR2Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome, Isolated coronal synostosis,
Craniosynostosis syndrome, Saethre-Chotzen syndrome, FGFR2-related craniosynostosis,
not provided		Conflicting interpretations of pathogenicity
(Sep 7, 2022)		criteria provided, conflicting interpretations
67.
GRCh37:
Chr10:123324050
GRCh38:
Chr10:121564536
FGFR2Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Acrocephalosyndactyly type I,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Levy-Hollister syndrome, Pfeiffer syndrome, Craniofacial dysostosis,
Bent bone dysplasia syndrome 1, Stomach cancernot provided,
FGFR2-related craniosynostosis, ...see more		Likely benign
(Mar 1, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr10:123325039
GRCh38:
Chr10:121565525
FGFR2A97Tnot 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
69.
GRCh37:
Chr10:123274768
GRCh38:
Chr10:121515254
FGFR2G384R, G385R, G156R, G295R, G269R, G296R, G272RBeare-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
70.
GRCh37:
Chr10:123325014
GRCh38:
Chr10:121565500
FGFR2Y105Cnot 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
71.
GRCh37:
Chr10:123247498
GRCh38:
Chr10:121487984
FGFR2FGFR2-related craniosynostosis, not specified, Stomach cancer,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Bent bone dysplasia syndrome 1, Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, Saethre-Chotzen syndromeFamilial scaphocephaly syndrome, McGillivray type,
Pfeiffer syndrome, ...see more		Benign/Likely benign
(Sep 13, 2021)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr10:123256215
GRCh38:
Chr10:121496701
FGFR2E565G, E566G, E337G, E477G, E449G, E450G, E448G, E453G, E476G, E563GBent 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
73.
GRCh37:
Chr10:123276904
GRCh38:
Chr10:121517390
FGFR2G338E, G249E, G110E, G223EFGFR2-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
74.
GRCh37:
Chr10:123325190
GRCh38:
Chr10:121565676
FGFR2Q46HBent 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
75.
GRCh37:
Chr10:123357947
GRCh38:
Chr10:121598433
FGFR2Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Craniofacial dysostosis, Saethre-Chotzen syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
76.
GRCh37:
Chr10:123357860
GRCh38:
Chr10:121598346
FGFR2Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Isolated coronal synostosis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr10:123357783
GRCh38:
Chr10:121598269
FGFR2not provided, Saethre-Chotzen syndrome, Craniosynostosis syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis, Isolated coronal synostosis
Benign
(May 12, 2021)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr10:123357696
GRCh38:
Chr10:121598182
FGFR2Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Isolated coronal synostosis		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr10:123357683
GRCh38:
Chr10:121598169
FGFR2Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Isolated coronal synostosis		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
80.
GRCh37:
Chr10:123357643
GRCh38:
Chr10:121598129
FGFR2Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome, Craniofacial dysostosis,
Isolated coronal synostosis, Saethre-Chotzen syndrome		Benign
(Jan 13, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr10:123357621-123357622
GRCh38:
Chr10:121598107-121598108
FGFR2Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome,
Jackson-Weiss syndrome, Acrocephalosyndactyly type I, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Isolated coronal synostosis, Levy-Hollister syndrome
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
82.
GRCh37:
Chr10:123357561
GRCh38:
Chr10:121598047
FGFR2Craniofacial dysostosis, Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome, Isolated coronal synostosis		Benign
(Jan 13, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr10:123357561
GRCh38:
Chr10:121598047
FGFR2Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Isolated coronal synostosis		Benign
(Jan 13, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr10:123357490
GRCh38:
Chr10:121597976
FGFR2Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Isolated coronal synostosis		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr10:123357482
GRCh38:
Chr10:121597968
FGFR2Craniofacial dysostosis, Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome, Isolated coronal synostosis, not specified
Benign
(Feb 26, 2020)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr10:123353466
GRCh38:
Chr10:121593952
FGFR2Isolated coronal synostosis, Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr10:123353460
GRCh38:
Chr10:121593946
FGFR2Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Craniofacial dysostosis, Saethre-Chotzen syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
88.
GRCh37:
Chr10:123353459
GRCh38:
Chr10:121593945
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr10:123353405
GRCh38:
Chr10:121593891
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
90.
GRCh37:
Chr10:123353377
GRCh38:
Chr10:121593863
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, not provided, Saethre-Chotzen syndrome
Benign/Likely benign
(Mar 1, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr10:123325233-123325234
GRCh38:
Chr10:121565719-121565720
FGFR2Acrocephalosyndactyly 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
92.
GRCh37:
Chr10:123325124
GRCh38:
Chr10:121565610
FGFR2Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Craniofacial dysostosis, Saethre-Chotzen syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr10:123324977
GRCh38:
Chr10:121565463
FGFR2Isolated coronal synostosis, Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr10:123298239
GRCh38:
Chr10:121538725
FGFR2FGFR2-related craniosynostosis, Craniofacial dysostosis, Craniosynostosis syndrome,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, not specified,
Isolated coronal synostosis		Conflicting interpretations of pathogenicity
(Dec 2, 2021)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr10:123279553
GRCh38:
Chr10:121520039
FGFR2FGFR2-related craniosynostosis, Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome, Isolated coronal synostosis
Benign/Likely benign
(Jul 10, 2021)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr10:123274846
GRCh38:
Chr10:121515332
FGFR2not provided, Craniosynostosis syndrome, Isolated coronal synostosis,
Craniofacial dysostosis, FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome		Benign/Likely benign
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr10:123274739
GRCh38:
Chr10:121515225
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
98.
GRCh37:
Chr10:123274679
GRCh38:
Chr10:121515165
FGFR2FGFR2-related craniosynostosis, Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome, Isolated coronal synostosis
Conflicting interpretations of pathogenicity
(Dec 12, 2021)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr10:123260362
GRCh38:
Chr10:121500848
FGFR2Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Craniofacial dysostosis, Saethre-Chotzen syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
100.
GRCh37:
Chr10:123260353
GRCh38:
Chr10:121500839
FGFR2not provided, Isolated coronal synostosis, Craniosynostosis syndrome,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, FGFR2-related craniosynostosis,
Craniofacial dysostosis		Benign/Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
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