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Items: 1 to 100 of 179

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr10:123246958
GRCh38:
Chr10:121487444
FGFR2Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Stomach cancer, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Acrocephalosyndactyly type I, Levy-Hollister syndromeFGFR2-related craniosynostosis,
...see more		Likely benign
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr10:123263408
GRCh38:
Chr10:121503894
FGFR2Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Stomach cancer, Jackson-Weiss syndrome,
Saethre-Chotzen syndrome, Levy-Hollister syndromeFGFR2-related craniosynostosis,
...see more		Likely benign
(Mar 6, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr10:123324001
GRCh38:
Chr10:121564487
FGFR2Bent bone dysplasia syndrome 1, Craniofacial dysostosis, Familial scaphocephaly syndrome, McGillivray type,
Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Stomach cancer, 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
FGFR2R61HBent bone dysplasia syndrome 1, Craniofacial dysostosis, Familial scaphocephaly syndrome, McGillivray type,
Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Stomach cancer, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
...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, A273VBent bone dysplasia syndrome 1, Craniofacial dysostosis, Familial scaphocephaly syndrome, McGillivray type,
Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Stomach cancer, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
...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, P443LFGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Craniofacial dysostosis,
Stomach cancer, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Familial scaphocephaly syndrome, McGillivray type, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type IPfeiffer syndrome,
...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, A326TFGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Craniofacial dysostosis,
Stomach cancer, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Familial scaphocephaly syndrome, McGillivray type, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type IPfeiffer syndrome,
...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, L809PBent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Jackson-Weiss syndrome, Saethre-Chotzen syndromeFGFR2-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, N660SBent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Jackson-Weiss syndrome, Saethre-Chotzen syndromeFGFR2-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, P413LBent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Jackson-Weiss syndrome, Saethre-Chotzen 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, H293YBent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Jackson-Weiss syndrome, Saethre-Chotzen syndromeFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Oct 12, 2021)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr10:123274763
GRCh38:
Chr10:121515249
FGFR2FGFR2-related craniosynostosis, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, Stomach cancerBent bone dysplasia syndrome 1,
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, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Beare-Stevenson cutis gyrata syndrome,
Stomach cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis,
Pfeiffer syndrome, Bent bone dysplasia syndrome 1not 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, M694Vnot provided, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Beare-Stevenson cutis gyrata syndrome, Stomach cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, Pfeiffer syndromeBent bone dysplasia syndrome 1,
...see more		Uncertain significance
(Oct 11, 2021)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr10:123279651
GRCh38:
Chr10:121520137
FGFR2G146R, G172R, G261R, G33Rnot provided, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Beare-Stevenson cutis gyrata syndrome, Stomach cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, Pfeiffer syndromeBent bone dysplasia syndrome 1,
...see more		Uncertain significance
(May 12, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr10:123325041
GRCh38:
Chr10:121565527
FGFR2G96Dnot provided, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Beare-Stevenson cutis gyrata syndrome, Stomach cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, Pfeiffer syndromeBent bone dysplasia syndrome 1,
FGFR2-related craniosynostosis, ...see more		Uncertain significance
(Aug 21, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr10:123324966
GRCh38:
Chr10:121565452
FGFR2M121TAcrocephalosyndactyly type I, Jackson-Weiss syndrome, Craniofacial dysostosis,
Bent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndrome, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Stomach cancer,
Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisnot provided,
...see more		Uncertain significance
(Mar 6, 2023)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr10:123256163
GRCh38:
Chr10:121496649
FGFR2FGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type,
Acrocephalosyndactyly type I, Levy-Hollister syndrome, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Stomach cancerJackson-Weiss syndrome,
...see more		Likely benign
(Aug 19, 2021)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr10:123263387
GRCh38:
Chr10:121503873
FGFR2FGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type,
Acrocephalosyndactyly type I, Levy-Hollister syndrome, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Stomach cancerJackson-Weiss syndrome,
...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, I816fsFGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Pfeiffer syndrome,
Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Stomach cancer, Levy-Hollister syndrome,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndromeSaethre-Chotzen syndrome,
...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, R451Cnot provided, Bent bone dysplasia syndrome 1, Pfeiffer syndrome,
Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Stomach cancer, Levy-Hollister syndrome,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndromeSaethre-Chotzen syndrome,
FGFR2-related craniosynostosis, ...see more		Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr10:123279620-123279621
GRCh38:
Chr10:121520106-121520107
FGFR2G156P, G182P, G271P, G43PCraniofacial dysostosisLikely pathogenic
(Mar 29, 2021)		criteria provided, single submitter
23.
GRCh37:
Chr10:123279644
GRCh38:
Chr10:121520130
FGFR2P148L, P174L, P263L, P35LBeare-Stevenson cutis gyrata syndrome, Familial scaphocephaly syndrome, McGillivray type, Levy-Hollister syndrome,
Stomach cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Craniofacial dysostosis, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Jackson-Weiss syndrome, Bent bone dysplasia syndrome 1FGFR2-related craniosynostosis,
...see more		Uncertain significance
(Mar 24, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr10:123353316
GRCh38:
Chr10:121593802
FGFR2R6CBeare-Stevenson cutis gyrata syndrome, Familial scaphocephaly syndrome, McGillivray type, Levy-Hollister syndrome,
Stomach cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Craniofacial dysostosis, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Jackson-Weiss syndrome, Bent bone dysplasia syndrome 1FGFR2-related craniosynostosis,
Inborn genetic diseases, ...see more		Conflicting interpretations of pathogenicity
(Mar 26, 2022)		criteria provided, conflicting interpretations
25.
GRCh37:
Chr10:123279602-123279603
GRCh38:
Chr10:121520088-121520089
FGFR2Craniofacial dysostosisLikely pathogenic
(Oct 7, 2016)		criteria provided, single submitter
26.
GRCh37:
Chr10:123260334
GRCh38:
Chr10:121500820
FGFR2Bent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndrome, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Stomach cancer, Levy-Hollister syndrome,
Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Jackson-Weiss syndrome,
Acrocephalosyndactyly type I, Saethre-Chotzen syndromeFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Apr 13, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr10:123258119
GRCh38:
Chr10:121498605
FGFR2D293G, D405G, D433G, D522G, D404G, D409G, D519G, D406G, D521G, D432GFGFR2-related craniosynostosis, Craniosynostosis syndrome, Saethre-Chotzen syndrome,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis
Conflicting interpretations of pathogenicity
(Jun 27, 2022)		criteria provided, conflicting interpretations
28.
GRCh37:
Chr10:123246880
GRCh38:
Chr10:121487366
FGFR2H594R, H565R, H570R, H683R, H680R, H454R, H566R, H567R, H593R, H682RCraniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr10:123239115
GRCh38:
Chr10:121479601
FGFR2V702ICraniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr10:123357928
GRCh38:
Chr10:121598414
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr10:123357562
GRCh38:
Chr10:121598048
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Craniosynostosis syndrome, Saethre-Chotzen syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr10:123357498
GRCh38:
Chr10:121597984
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Craniosynostosis syndrome, Saethre-Chotzen syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr10:123353299
GRCh38:
Chr10:121593785
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis, FGFR2-related craniosynostosis
Conflicting interpretations of pathogenicity
(Sep 16, 2022)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr10:123357915
GRCh38:
Chr10:121598401
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Craniosynostosis syndrome, Saethre-Chotzen syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr10:123353392
GRCh38:
Chr10:121593878
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, not provided, Craniofacial dysostosis
Benign/Likely benign
(May 26, 2019)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr10:123353241
GRCh38:
Chr10:121593727
FGFR2T31SSaethre-Chotzen syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Craniosynostosis syndrome, Craniofacial dysostosis		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
37.
GRCh37:
Chr10:123260416
GRCh38:
Chr10:121500902
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
38.
GRCh37:
Chr10:123238641
GRCh38:
Chr10:121479127
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
39.
GRCh37:
Chr10:123238131
GRCh38:
Chr10:121478617
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr10:123238088
GRCh38:
Chr10:121478574
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
41.
GRCh37:
Chr10:123324002
GRCh38:
Chr10:121564488
FGFR2FGFR2-related craniosynostosis, Craniosynostosis syndrome, not provided,
Saethre-Chotzen syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis		Benign/Likely benign
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr10:123279660
GRCh38:
Chr10:121520146
FGFR2L143F, L169F, L258F, L30FFGFR2-related craniosynostosis, Craniosynostosis syndrome, Isolated coronal synostosis,
Acrocephalosyndactyly type I, Jackson-Weiss syndrome, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisLevy-Hollister syndrome,
Craniofacial dysostosis, Stomach cancer, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome, ...see more		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr10:123274825
GRCh38:
Chr10:121515311
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
44.
GRCh37:
Chr10:123238497
GRCh38:
Chr10:121478983
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr10:123237832
GRCh38:
Chr10:121478318
FGFR2Isolated coronal synostosis, Craniofacial dysostosis, Craniosynostosis syndrome,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
46.
GRCh37:
Chr10:123353348
GRCh38:
Chr10:121593834
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Acrocephalosyndactyly type I, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome, Bent bone dysplasia syndrome 1,
Pfeiffer syndrome, Stomach cancerAntley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, ...see more		Uncertain significance
(May 22, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr10:123357531
GRCh38:
Chr10:121598017
FGFR2Isolated coronal synostosis, Craniosynostosis syndrome, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr10:123357521
GRCh38:
Chr10:121598007
FGFR2Isolated coronal synostosis, Craniosynostosis syndrome, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
49.
GRCh37:
Chr10:123353439
GRCh38:
Chr10:121593925
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
50.
GRCh37:
Chr10:123325127
GRCh38:
Chr10:121565613
FGFR2Isolated coronal synostosis, Saethre-Chotzen syndrome, FGFR2-related craniosynostosis,
Craniosynostosis syndrome, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome
Conflicting interpretations of pathogenicity
(Jul 1, 2022)		criteria provided, conflicting interpretations
51.
GRCh37:
Chr10:123298237
GRCh38:
Chr10:121538723
FGFR2Isolated coronal synostosis, Saethre-Chotzen syndrome, Craniosynostosis syndrome,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
52.
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
53.
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
54.
GRCh37:
Chr10:123238908
GRCh38:
Chr10:121479394
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
55.
GRCh37:
Chr10:123357951
GRCh38:
Chr10:121598437
FGFR2Craniosynostosis 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
56.
GRCh37:
Chr10:123279652
GRCh38:
Chr10:121520138
FGFR2Craniosynostosis syndrome, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome, FGFR2-related craniosynostosis, Isolated coronal synostosis
Conflicting interpretations of pathogenicity
(Oct 18, 2021)		criteria provided, conflicting interpretations
57.
GRCh37:
Chr10:123260356
GRCh38:
Chr10:121500842
FGFR2Pfeiffer syndrome, Acrocephalosyndactyly type I, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1, Jackson-Weiss syndrome,
Stomach cancer, Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndromenot provided,
...see more		Likely benign
(Nov 16, 2021)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr10:123353268
GRCh38:
Chr10:121593754
FGFR2R22WJackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I,
Levy-Hollister syndrome, Craniofacial dysostosis, Bent bone dysplasia syndrome 1,
Stomach cancer, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Beare-Stevenson cutis gyrata syndromeFGFR2-related craniosynostosis,
...see more		Benign/Likely benign
(Jul 12, 2021)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr10:123298140
GRCh38:
Chr10:121538626
FGFR2Isolated coronal synostosis, not provided, Craniosynostosis syndrome,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome
Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr10:123256148
GRCh38:
Chr10:121496634
FGFR2FGFR2-related craniosynostosis, Pfeiffer syndrome, Bent bone dysplasia syndrome 1,
Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Levy-Hollister syndrome, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray typeStomach cancer,
...see more		Benign/Likely benign
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr10:123243281
GRCh38:
Chr10:121483767
FGFR2FGFR2-related craniosynostosis, Stomach cancer, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I,
Levy-Hollister syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndromeBent bone dysplasia syndrome 1,
not provided, ...see more		Benign/Likely benign
(Aug 11, 2021)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr10:123324080
GRCh38:
Chr10:121564566
FGFR2Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Stomach cancer, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Pfeiffer syndrome,
Craniofacial dysostosis, Bent bone dysplasia syndrome 1not provided,
...see more		Likely benign
(Dec 6, 2021)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr10:123247580
GRCh38:
Chr10:121488066
FGFR2Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Stomach cancer, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Pfeiffer syndrome,
Craniofacial dysostosis, Bent bone dysplasia syndrome 1not provided,
FGFR2-related craniosynostosis, ...see more		Likely benign
(Feb 3, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr10:123256174
GRCh38:
Chr10:121496660
FGFR2R579W, R580W, R463W, R464W, R491W, R462W, R490W, R351W, R467W, R577WAcrocephalosyndactyly type I, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Stomach cancer, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis,
Bent bone dysplasia syndrome 1, Pfeiffer syndrome ...see more		Uncertain significance
(May 17, 2022)		criteria provided, single submitter
65.
GRCh37:
Chr10:123276928
GRCh38:
Chr10:121517414
FGFR2R330Q, R102Q, R241Q, R215Qnot provided, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome,
FGFR2-related craniosynostosis, Acrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Craniofacial dysostosis,
Pfeiffer syndrome, Saethre-Chotzen syndromeFamilial scaphocephaly syndrome, McGillivray type,
Neoplasm of stomach, Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
...see more		Conflicting interpretations of pathogenicity
(Apr 1, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr10:123279620
GRCh38:
Chr10:121520106
FGFR2G271V, G156V, G43V, G182VCraniofacial dysostosis, FGFR2-related craniosynostosisPathogenic/Likely pathogenic
(Jan 5, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr10:123279522
GRCh38:
Chr10:121520008
FGFR2D304N, D76N, D189N, D215NAcrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome, Stomach cancer,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Craniofacial dysostosis,
Pfeiffer syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Dec 7, 2021)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr10:123279677
GRCh38:
Chr10:121520163
FGFR2S252L, S24L, S137L, S163LFGFR2-related craniosynostosis, not provided, Craniofacial dysostosis
Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr10:123274832
GRCh38:
Chr10:121515318
FGFR2Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis,
Stomach cancer, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Pfeiffer syndrome, Bent bone dysplasia syndrome 1,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray typeFGFR2-related craniosynostosis,
not provided, ...see more		Likely benign
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr10:123244914
GRCh38:
Chr10:121485400
FGFR2not provided, Isolated coronal synostosis, FGFR2-related craniosynostosis,
Craniosynostosis syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome		Conflicting interpretations of pathogenicity
(Sep 7, 2022)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr10:123324050
GRCh38:
Chr10:121564536
FGFR2Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis,
Stomach cancer, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Pfeiffer syndrome, Bent bone dysplasia syndrome 1,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray typeFGFR2-related craniosynostosis,
not provided, ...see more		Likely benign
(Mar 1, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr10:123325039
GRCh38:
Chr10:121565525
FGFR2A97TFGFR2-realated disorder, FGFR2-related craniosynostosis, not provided,
Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosisJackson-Weiss syndrome,
Levy-Hollister syndrome, Bent bone dysplasia syndrome 1, ...see more		Conflicting interpretations of pathogenicity
(Jul 27, 2022)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr10:123274768
GRCh38:
Chr10:121515254
FGFR2G384R, G385R, G156R, G295R, G269R, G296R, G272RFGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Acrocephalosyndactyly type I,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome,
Jackson-Weiss syndrome, Levy-Hollister syndromeNeoplasm of stomach,
...see more		Pathogenic
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr10:123325014
GRCh38:
Chr10:121565500
FGFR2Y105Cnot provided, Bent bone dysplasia syndrome 1, FGFR2-related craniosynostosis,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Pfeiffer syndromeCraniofacial dysostosis,
Acrocephalosyndactyly type I, Neoplasm of stomach, Craniofacial dysostosis,
...see more		Pathogenic/Likely pathogenic
(Jan 12, 2023)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr5:149776031-149776032
GRCh38:
Chr5:150396468-150396469
TCOF1E1324fs, E1287fs, E1248fs, E1247fs, E1286fs, E1325fsTreacher Collins syndrome, Craniofacial dysostosis, not provided
Pathogenic
(Mar 15, 2016)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr10:123247498
GRCh38:
Chr10:121487984
FGFR2Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Stomach cancer,
Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I, Craniofacial dysostosis,
Bent bone dysplasia syndrome 1, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Jackson-Weiss syndrome, Pfeiffer syndromenot specified,
FGFR2-related craniosynostosis, ...see more		Benign/Likely benign
(Sep 13, 2021)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr10:123256215
GRCh38:
Chr10:121496701
FGFR2E565G, E566G, E337G, E477G, E449G, E450G, E448G, E453G, E476G, E563Gnot provided, FGFR2-related craniosynostosis, Pfeiffer syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Stomach cancer, Beare-Stevenson cutis gyrata syndromeJackson-Weiss syndrome,
Pfeiffer syndrome, Craniofacial dysostosis, ...see more		Pathogenic/Likely pathogenic
(Nov 17, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr10:123258036
GRCh38:
Chr10:121498522
FGFR2N549H, N550H, N461H, N433H, N434H, N547H, N321H, N432H, N437H, N460HCraniofacial dysostosisLikely pathogenic
(Sep 17, 2016)		criteria provided, single submitter
79.
GRCh37:
Chr10:123276892
GRCh38:
Chr10:121517378
FGFR2C342S, C227S, C253S, C114Snot provided, FGFR2-related craniosynostosis, Jackson-Weiss syndrome,
Craniofacial dysostosis		Pathogenic
(Jan 1, 2023)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr10:123276904
GRCh38:
Chr10:121517390
FGFR2G338E, G249E, G110E, G223EAntley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Neoplasm of stomach, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Pfeiffer syndrome, Craniofacial dysostosisFGFR2-related craniosynostosis,
Craniofacial dysostosis, ...see more		Pathogenic/Likely pathogenic
(Jul 29, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr10:123276905
GRCh38:
Chr10:121517391
FGFR2G338R, G110R, G249R, G223RFGFR2-related craniosynostosis, Craniofacial dysostosisPathogenic
(Aug 12, 2021)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr10:123276910
GRCh38:
Chr10:121517396
FGFR2D336G, D221G, D108G, D247GCraniofacial dysostosisPathogenic/Likely pathogenic
(May 28, 2019)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr10:123279509
GRCh38:
Chr10:121519995
FGFR2Y308C, Y193C, Y219C, Y80CCraniofacial dysostosisPathogenic
(Sep 17, 2016)		criteria provided, single submitter
84.
GRCh37:
Chr10:123279563
GRCh38:
Chr10:121520049
FGFR2W290S, W62S, W201S, W175SCraniofacial dysostosisPathogenic
(Sep 17, 2016)		criteria provided, single submitter
85.
GRCh37:
Chr10:123279590
GRCh38:
Chr10:121520076
FGFR2Y281C, Y166C, Y53C, Y192Cnot provided, FGFR2-related craniosynostosis, Craniofacial dysostosis
Likely pathogenic
(Jun 30, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr10:123279606
GRCh38:
Chr10:121520092
FGFR2F276V, F161V, F187V, F48VFGFR2-related craniosynostosis, not provided, Craniofacial dysostosis
Pathogenic/Likely pathogenic
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr10:123325190
GRCh38:
Chr10:121565676
FGFR2Q46HCraniosynostosis, nonspecific, FGFR2-related craniosynostosis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Acrocephalosyndactyly type I, Levy-Hollister syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1, Stomach cancer,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndromePfeiffer syndrome,
Craniofacial dysostosis, ...see more		Uncertain significance
(Feb 9, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr10:123357947
GRCh38:
Chr10:121598433
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Craniosynostosis syndrome, Saethre-Chotzen syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr10:123357860
GRCh38:
Chr10:121598346
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Craniosynostosis syndrome, Saethre-Chotzen syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
90.
GRCh37:
Chr10:123357783
GRCh38:
Chr10:121598269
FGFR2Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Craniofacial dysostosis, Saethre-Chotzen syndrome, not provided
Benign
(May 12, 2021)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr10:123357696
GRCh38:
Chr10:121598182
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Craniosynostosis syndrome, Saethre-Chotzen syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr10:123357683
GRCh38:
Chr10:121598169
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Craniosynostosis syndrome, Saethre-Chotzen syndrome		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr10:123357643
GRCh38:
Chr10:121598129
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome		Benign
(Jan 13, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr10:123357621-123357622
GRCh38:
Chr10:121598107-121598108
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Craniofacial dysostosis,
Pfeiffer syndrome, Jackson-Weiss syndrome, Acrocephalosyndactyly type I,
Beare-Stevenson cutis gyrata syndrome, Levy-Hollister syndrome, Saethre-Chotzen syndrome
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
95.
GRCh37:
Chr10:123357561
GRCh38:
Chr10:121598047
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Craniosynostosis syndrome, Saethre-Chotzen syndrome		Benign
(Jan 13, 2018)		criteria provided, single submitter
96.
GRCh37:
Chr10:123357561
GRCh38:
Chr10:121598047
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Craniosynostosis syndrome, Saethre-Chotzen syndrome		Benign
(Jan 13, 2018)		criteria provided, single submitter
97.
GRCh37:
Chr10:123357490
GRCh38:
Chr10:121597976
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Craniosynostosis syndrome, Saethre-Chotzen syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
98.
GRCh37:
Chr10:123357482
GRCh38:
Chr10:121597968
FGFR2not specified, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Craniosynostosis syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome
Benign
(Feb 26, 2020)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr10:123353466
GRCh38:
Chr10:121593952
FGFR2Isolated coronal synostosis, Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome, Craniofacial dysostosis		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr10:123353460
GRCh38:
Chr10:121593946
FGFR2Isolated coronal synostosis, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome,
Craniosynostosis syndrome, Saethre-Chotzen syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
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