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Items: 99

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
20.
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
21.
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
22.
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
23.
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
24.
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
25.
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
26.
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
27.
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
28.
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
29.
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
30.
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
31.
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
32.
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
33.
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
34.
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
35.
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
36.
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
37.
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
38.
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
39.
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
40.
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
41.
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
42.
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
43.
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
44.
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
45.
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
46.
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
47.
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
48.
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
49.
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
50.
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
51.
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
52.
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
53.
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
54.
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
55.
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
56.
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
57.
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
58.
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
59.
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
60.
GRCh37:
Chr10:123258130
GRCh38:
Chr10:121498616
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr10:123256248
GRCh38:
Chr10:121496734
FGFR2FGFR2-related craniosynostosis, Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome, Isolated coronal synostosis,
not provided		Benign/Likely benign
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr10:123256135
GRCh38:
Chr10:121496621
FGFR2R592C, R593C, R475C, R504C, R590C, R477C, R364C, R480C, R476C, R503CCraniosynostosis syndrome, Isolated coronal synostosis, Craniofacial dysostosis,
FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome
Conflicting interpretations of pathogenicity
(Oct 21, 2022)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr10:123246924
GRCh38:
Chr10:121487410
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
not provided, Craniofacial dysostosis, FGFR2-related craniosynostosis,
Beare-Stevenson cutis gyrata syndrome		Benign/Likely benign
(Oct 23, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr10:123239422
GRCh38:
Chr10:121479908
FGFR2Craniosynostosis syndrome, not provided, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, FGFR2-related craniosynostosis,
Craniofacial dysostosis		Benign/Likely benign
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr10:123239421
GRCh38:
Chr10:121479907
FGFR2E806K, E807K, E694K, E578K, E691K, E717K, E689K, E804K, E690Knot provided, Saethre-Chotzen syndrome, Craniosynostosis syndrome,
Isolated coronal synostosis, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome
Conflicting interpretations of pathogenicity
(Dec 10, 2019)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr10:123239260
GRCh38:
Chr10:121479746
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
not provided, Craniofacial dysostosis, Saethre-Chotzen syndrome
Conflicting interpretations of pathogenicity
(Aug 1, 2022)		criteria provided, conflicting interpretations
67.
GRCh37:
Chr10:123239187
GRCh38:
Chr10:121479673
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Beare-Stevenson cutis gyrata syndrome		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr10:123239174
GRCh38:
Chr10:121479660
FGFR2K682fsCraniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Pfeiffer syndrome, Jackson-Weiss syndrome, Acrocephalosyndactyly type I,
not provided, Craniofacial dysostosis, Levy-Hollister syndrome,
Saethre-Chotzen syndrome		Conflicting interpretations of pathogenicity
(May 1, 2023)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr10:123239112
GRCh38:
Chr10:121479598
FGFR2not provided, Craniosynostosis syndrome, not specified,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome,
Craniofacial dysostosis		Benign
(May 9, 2018)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr10:123239047
GRCh38:
Chr10:121479533
FGFR2Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome, Saethre-Chotzen syndrome,
Isolated coronal synostosis, Craniofacial dysostosis		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
71.
GRCh37:
Chr10:123238968
GRCh38:
Chr10:121479454
FGFR2not provided, Isolated coronal synostosis, Craniosynostosis syndrome,
Saethre-Chotzen syndrome, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis
Benign/Likely benign
(Jul 15, 2018)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr10:123238902
GRCh38:
Chr10:121479388
FGFR2Craniosynostosis syndrome, not provided, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome
Benign
(Jun 30, 2018)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr10:123238874
GRCh38:
Chr10:121479360
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr10:123238727-123238730
GRCh38:
Chr10:121479213-121479216
FGFR2Acrocephalosyndactyly type I, Saethre-Chotzen syndrome, Craniosynostosis syndrome,
Jackson-Weiss syndrome, Pfeiffer syndrome, Isolated coronal synostosis,
Craniofacial dysostosis, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
75.
GRCh37:
Chr10:123238697
GRCh38:
Chr10:121479183
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Craniosynostosis syndrome, not provided, Saethre-Chotzen syndrome
Conflicting interpretations of pathogenicity
(Dec 1, 2022)		criteria provided, conflicting interpretations
76.
GRCh37:
Chr10:123238634-123238635
GRCh38:
Chr10:121479120-121479121
FGFR2Jackson-Weiss syndrome, Acrocephalosyndactyly type I, Craniosynostosis syndrome,
Pfeiffer syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome, Levy-Hollister syndrome, Craniofacial dysostosis
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
77.
GRCh37:
Chr10:123238450
GRCh38:
Chr10:121478936
FGFR2Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Isolated coronal synostosis,
Craniofacial dysostosis, Saethre-Chotzen syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr10:123238301
GRCh38:
Chr10:121478787
FGFR2Isolated coronal synostosis, Craniofacial dysostosis, Craniosynostosis syndrome,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr10:123238245
GRCh38:
Chr10:121478731
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
80.
GRCh37:
Chr10:123238084
GRCh38:
Chr10:121478570
FGFR2Isolated coronal synostosis, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr10:123238070
GRCh38:
Chr10:121478556
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome		Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr10:123238052
GRCh38:
Chr10:121478538
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome		Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr10:123238002
GRCh38:
Chr10:121478488
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome, Pfeiffer syndrome, Acrocephalosyndactyly type I,
Familial scaphocephaly syndrome, McGillivray type, Jackson-Weiss syndrome, Bent bone dysplasia syndrome 1,
Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisSaethre-Chotzen syndrome,
Stomach cancer, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Craniofacial dysostosis, ...see more		Uncertain significance
(Jan 13, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr10:123237969
GRCh38:
Chr10:121478455
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr10:123237882
GRCh38:
Chr10:121478368
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr10:123237869-123237873
GRCh38:
Chr10:121478355-121478359
FGFR2Craniosynostosis syndrome, Levy-Hollister syndrome, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Pfeiffer syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
87.
GRCh37:
Chr10:123260362
GRCh38:
Chr10:121500848
FGFR2Isolated coronal synostosis, Saethre-Chotzen syndrome, not specified,
FGFR2-related craniosynostosis, not provided, Craniosynostosis syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Benign/Likely benign
(Oct 4, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr10:123258109
GRCh38:
Chr10:121498595
FGFR2Isolated coronal synostosis, not specified, FGFR2-related craniosynostosis,
Craniosynostosis syndrome, not provided, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome		Benign/Likely benign
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr10:123298158
GRCh38:
Chr10:121538644
FGFR2FGFR2-related craniosynostosis, Craniosynostosis syndrome, Isolated coronal synostosis,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome,
not specified		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr10:123243197
GRCh38:
Chr10:121483683
FGFR2FGFR2-related craniosynostosis, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome,
not specified		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr10:123247550
GRCh38:
Chr10:121488036
FGFR2Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis, FGFR2-related craniosynostosis,
not provided, Craniosynostosis syndrome, not specified,
Isolated coronal synostosis, Saethre-Chotzen syndrome		Benign
(Oct 20, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr10:123353213
GRCh38:
Chr10:121593699
FGFR2Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis, not provided,
FGFR2-related craniosynostosis, not specified, Craniosynostosis syndrome,
Isolated coronal synostosis, Saethre-Chotzen syndrome		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr10:123325169
GRCh38:
Chr10:121565655
FGFR2Craniosynostosis syndrome, not specified, not provided,
Isolated coronal synostosis, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome,
FGFR2-related craniosynostosis, Saethre-Chotzen syndrome		Benign/Likely benign
(Oct 1, 2023)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr10:123325034
GRCh38:
Chr10:121565520
FGFR2not specified, FGFR2-related craniosynostosis, Craniosynostosis syndrome,
not provided, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome		Benign/Likely benign
(Jul 1, 2023)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr10:123279482
GRCh38:
Chr10:121519968
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome, FGFR2-related craniosynostosis
Benign/Likely benign
(Oct 14, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr10:123310871
GRCh38:
Chr10:121551357
FGFR2M186T, M71T, M97Tnot provided, Isolated coronal synostosis, FGFR2-related craniosynostosis,
Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Saethre-Chotzen syndrome, not specified		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr10:123325158
GRCh38:
Chr10:121565644
FGFR2S57LIsolated coronal synostosis, FGFR2-related craniosynostosis, Craniosynostosis syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome,
not specified, not provided		Benign/Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr10:123353309
GRCh38:
Chr10:121593795
FGFR2I8SCraniosynostosis syndrome, not specified, not provided,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Saethre-Chotzen syndrome, FGFR2-related craniosynostosis		Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr10:123353315
GRCh38:
Chr10:121593801
FGFR2R6PIsolated coronal synostosis, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Craniofacial dysostosis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Bent bone dysplasia syndrome 1,
Stomach cancer, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Pfeiffer syndrome, Saethre-Chotzen syndromeFamilial scaphocephaly syndrome, McGillivray type,
FGFR2-related craniosynostosis, Craniofacial dysostosis, Craniosynostosis syndrome,
not provided, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome,
not specified, ...see more		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
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