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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
FGFR2FGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Acrocephalosyndactyly type I,
Saethre-Chotzen syndrome, Gastric cancer, Levy-Hollister syndrome,
Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome, Jackson-Weiss syndrome,
Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndromeAntley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
...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, Pfeiffer syndrome, Familial scaphocephaly syndrome, McGillivray type,
Crouzon syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Gastric cancer,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Saethre-Chotzen syndromeFGFR2-related craniosynostosis,
...see more
Likely benign
(Mar 6, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr10:123324001
GRCh38:
Chr10:121564487
FGFR2FGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Pfeiffer syndrome,
Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Gastric cancer, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome,
Acrocephalosyndactyly type I, Jackson-Weiss syndromeSaethre-Chotzen syndrome,
...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, Pfeiffer syndrome,
Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Gastric cancer, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome,
Acrocephalosyndactyly type I, Jackson-Weiss syndromeSaethre-Chotzen syndrome,
...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, Pfeiffer syndrome,
Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Gastric cancer, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome,
Acrocephalosyndactyly type I, Jackson-Weiss syndromeSaethre-Chotzen syndrome,
...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, Pfeiffer syndrome, Jackson-Weiss syndrome,
Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome, Levy-Hollister syndrome,
Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Acrocephalosyndactyly type I, Gastric cancerFGFR2-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, Pfeiffer syndrome, Jackson-Weiss syndrome,
Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome, Levy-Hollister syndrome,
Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Acrocephalosyndactyly type I, Gastric cancerFGFR2-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, L809PBent bone dysplasia syndrome 1, Pfeiffer syndrome, Jackson-Weiss syndrome,
Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome, Levy-Hollister syndrome,
Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Acrocephalosyndactyly type I, Gastric 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, N660SBent bone dysplasia syndrome 1, Pfeiffer syndrome, Jackson-Weiss syndrome,
Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome, Levy-Hollister syndrome,
Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Acrocephalosyndactyly type I, Gastric 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, P413LBent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome,
Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Levy-Hollister syndrome, Gastric cancer,
Jackson-Weiss syndrome, 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, H293YBent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome,
Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Levy-Hollister syndrome, Gastric cancer,
Jackson-Weiss syndrome, Pfeiffer syndromeFGFR2-related craniosynostosis,
...see more
Uncertain significance
(Oct 12, 2021)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr10:123274763
GRCh38:
Chr10:121515249
FGFR2Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome,
Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Levy-Hollister syndrome, Gastric cancer,
Jackson-Weiss syndrome, Pfeiffer syndromenot provided,
FGFR2-related craniosynostosis, ...see more
Likely benign
(Sep 30, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr10:123258126-123258128
GRCh38:
Chr10:121498612-121498614
FGFR2Jackson-Weiss syndrome, Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type,
Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome, Levy-Hollister syndrome,
Acrocephalosyndactyly type I, Gastric 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, M694Vnot provided, Jackson-Weiss syndrome, Bent bone dysplasia syndrome 1,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Saethre-Chotzen syndrome, Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome,
Levy-Hollister syndrome, Acrocephalosyndactyly type IGastric cancer,
...see more
Uncertain significance
(Oct 11, 2021)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr10:123279651
GRCh38:
Chr10:121520137
FGFR2G146R, G172R, G261R, G33RJackson-Weiss syndrome, Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type,
Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome, Levy-Hollister syndrome,
Acrocephalosyndactyly type I, Gastric 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, not provided, Jackson-Weiss syndrome,
Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome, Crouzon syndrome,
Beare-Stevenson cutis gyrata syndrome, Levy-Hollister syndromeAcrocephalosyndactyly type I,
Gastric cancer, ...see more
Uncertain significance
(Aug 21, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr10:123324966
GRCh38:
Chr10:121565452
FGFR2M121TFamilial scaphocephaly syndrome, McGillivray type, Crouzon syndrome, Acrocephalosyndactyly type I,
Gastric cancer, Bent bone dysplasia syndrome 1, Pfeiffer syndrome,
Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Jackson-Weiss syndrome, Levy-Hollister syndromenot provided,
...see more
Uncertain significance
(Mar 6, 2023)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr10:123256163
GRCh38:
Chr10:121496649
FGFR2Bent bone dysplasia syndrome 1, Pfeiffer syndrome, Acrocephalosyndactyly type I,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Gastric cancer, Levy-Hollister syndrome,
Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome, Jackson-Weiss syndrome,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndromeFGFR2-related craniosynostosis,
...see more
Likely benign
(Aug 19, 2021)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr10:123263387
GRCh38:
Chr10:121503873
FGFR2Bent bone dysplasia syndrome 1, Pfeiffer syndrome, Acrocephalosyndactyly type I,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Gastric cancer, Levy-Hollister syndrome,
Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome, Jackson-Weiss syndrome,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndromeFGFR2-related craniosynostosis,
...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, I816fsBent bone dysplasia syndrome 1, Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Gastric cancer,
Levy-Hollister syndrome, Jackson-Weiss 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, R451CBent bone dysplasia syndrome 1, Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Gastric cancer,
Levy-Hollister syndrome, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
not provided, ...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, G43PCrouzon syndromeLikely pathogenic
(Mar 29, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr10:123279644
GRCh38:
Chr10:121520130
FGFR2P148L, P174L, P263L, P35LFGFR2-related craniosynostosis, Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Gastric cancer,
Jackson-Weiss syndrome, Bent bone dysplasia syndrome 1Crouzon syndrome,
...see more
Uncertain significance
(Mar 24, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr10:123353316
GRCh38:
Chr10:121593802
FGFR2R6CFGFR2-related craniosynostosis, Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Gastric cancer,
Jackson-Weiss syndrome, Bent bone dysplasia syndrome 1Crouzon syndrome,
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
FGFR2Crouzon syndromeLikely pathogenic
(Oct 7, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr10:123260334
GRCh38:
Chr10:121500820
FGFR2Jackson-Weiss syndrome, Levy-Hollister syndrome, Crouzon syndrome,
Familial scaphocephaly syndrome, McGillivray type, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Bent bone dysplasia syndrome 1, Gastric cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Pfeiffer syndrome, 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, D432GCraniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Isolated coronal synostosis,
Crouzon syndrome, FGFR2-related craniosynostosis, Saethre-Chotzen syndrome
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, Beare-Stevenson cutis gyrata syndrome, Isolated coronal synostosis,
Crouzon syndrome, Saethre-Chotzen syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr10:123239115
GRCh38:
Chr10:121479601
FGFR2V702ICraniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Isolated coronal synostosis,
Crouzon syndrome, Saethre-Chotzen syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr10:123357928
GRCh38:
Chr10:121598414
FGFR2Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Isolated coronal synostosis,
Crouzon syndrome, Saethre-Chotzen syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr10:123357562
GRCh38:
Chr10:121598048
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr10:123357498
GRCh38:
Chr10:121597984
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr10:123353299
GRCh38:
Chr10:121593785
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome,
Isolated coronal synostosis, Crouzon syndrome, FGFR2-related craniosynostosis
Conflicting interpretations of pathogenicity
(Sep 16, 2022)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr10:123357915
GRCh38:
Chr10:121598401
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr10:123353392
GRCh38:
Chr10:121593878
FGFR2Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Isolated coronal synostosis,
Crouzon syndrome, not provided, Saethre-Chotzen syndrome
Benign/Likely benign
(May 26, 2019)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr10:123353241
GRCh38:
Chr10:121593727
FGFR2T31SCraniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Isolated coronal synostosis,
Crouzon syndrome, Saethre-Chotzen syndrome
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr10:123260416
GRCh38:
Chr10:121500902
FGFR2Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Isolated coronal synostosis,
Crouzon syndrome, Saethre-Chotzen syndrome
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr10:123238641
GRCh38:
Chr10:121479127
FGFR2Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Isolated coronal synostosis,
Crouzon syndrome, Saethre-Chotzen syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr10:123238131
GRCh38:
Chr10:121478617
FGFR2Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Crouzon syndrome, Saethre-Chotzen syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr10:123238088
GRCh38:
Chr10:121478574
FGFR2Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Isolated coronal synostosis,
Crouzon syndrome, Saethre-Chotzen syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr10:123324002
GRCh38:
Chr10:121564488
FGFR2Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Isolated coronal synostosis,
FGFR2-related craniosynostosis, not provided, Crouzon syndrome,
Saethre-Chotzen syndrome
Benign/Likely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr10:123279660
GRCh38:
Chr10:121520146
FGFR2L143F, L169F, L258F, L30FCraniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome,
FGFR2-related craniosynostosis, Saethre-Chotzen syndrome, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Crouzon syndrome, Acrocephalosyndactyly type IPfeiffer syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Gastric cancer, Isolated coronal synostosis, ...see more
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr10:123274825
GRCh38:
Chr10:121515311
FGFR2Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Isolated coronal synostosis,
Saethre-Chotzen syndrome, Crouzon syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr10:123238497
GRCh38:
Chr10:121478983
FGFR2Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Isolated coronal synostosis,
Crouzon syndrome, Saethre-Chotzen syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr10:123237832
GRCh38:
Chr10:121478318
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr10:123353348
GRCh38:
Chr10:121593834
FGFR2Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome,
Saethre-Chotzen syndrome, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome,
Acrocephalosyndactyly type I, Pfeiffer syndromeSaethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1, Gastric cancer,
Isolated coronal synostosis, ...see more
Uncertain significance
(May 22, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr10:123357531
GRCh38:
Chr10:121598017
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr10:123357521
GRCh38:
Chr10:121598007
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr10:123353439
GRCh38:
Chr10:121593925
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr10:123325127
GRCh38:
Chr10:121565613
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome, FGFR2-related craniosynostosis
Conflicting interpretations of pathogenicity
(Jul 1, 2022)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr10:123298237
GRCh38:
Chr10:121538723
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr10:123274751
GRCh38:
Chr10:121515237
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr10:123274705
GRCh38:
Chr10:121515191
FGFR2K290E, K293E, K177E, K317E, K406E, K316E, K405ESaethre-Chotzen syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr10:123238908
GRCh38:
Chr10:121479394
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
55.
GRCh37:
Chr10:123357951
GRCh38:
Chr10:121598437
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr10:123279652
GRCh38:
Chr10:121520138
FGFR2FGFR2-related craniosynostosis, Craniosynostosis syndrome, Isolated coronal synostosis,
Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome
Conflicting interpretations of pathogenicity
(Oct 18, 2021)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr10:123260356
GRCh38:
Chr10:121500842
FGFR2Jackson-Weiss syndrome, Levy-Hollister syndrome, Crouzon syndrome,
Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Acrocephalosyndactyly type I,
Gastric cancer, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Bent bone dysplasia syndrome 1not provided,
...see more
Likely benign
(Nov 16, 2021)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr10:123353268
GRCh38:
Chr10:121593754
FGFR2R22WFGFR2-related craniosynostosis, Gastric cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Crouzon syndrome, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Bent bone dysplasia syndrome 1, Saethre-Chotzen syndromeFamilial scaphocephaly syndrome, McGillivray type,
...see more
Benign/Likely benign
(Jul 12, 2021)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr10:123298140
GRCh38:
Chr10:121538626
FGFR2Isolated coronal synostosis, Craniosynostosis syndrome, not provided,
Beare-Stevenson cutis gyrata syndrome, Crouzon 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, Acrocephalosyndactyly type I, Bent bone dysplasia syndrome 1,
Jackson-Weiss syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Beare-Stevenson cutis gyrata syndrome, Gastric cancer,
Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisCrouzon syndrome,
...see more
Benign/Likely benign
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr10:123243281
GRCh38:
Chr10:121483767
FGFR2Bent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Gastric cancer,
Pfeiffer syndrome, Crouzon syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type Inot provided,
FGFR2-related craniosynostosis, ...see more
Benign/Likely benign
(Aug 11, 2021)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr10:123324080
GRCh38:
Chr10:121564566
FGFR2Bent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Gastric cancer,
Pfeiffer syndrome, Crouzon syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type Inot provided,
...see more
Likely benign
(Dec 6, 2021)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr10:123247580
GRCh38:
Chr10:121488066
FGFR2not provided, Gastric cancer, Crouzon syndrome,
Bent bone dysplasia syndrome 1, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Pfeiffer syndrome, Beare-Stevenson cutis gyrata syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndromeFamilial scaphocephaly syndrome, McGillivray type,
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, R577WAntley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome, Bent bone dysplasia syndrome 1,
Acrocephalosyndactyly type I, Pfeiffer syndrome, Gastric cancer,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type ...see more
Uncertain significance
(May 17, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr10:123276928
GRCh38:
Chr10:121517414
FGFR2R330Q, R102Q, R241Q, R215QCrouzon syndrome, Beare-Stevenson cutis gyrata syndrome, Beare-Stevenson cutis gyrata syndrome,
Acrocephalosyndactyly type I, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Bent bone dysplasia syndrome 1, Pfeiffer syndrome,
Neoplasm of stomach, Crouzon syndromeFamilial scaphocephaly syndrome, McGillivray type,
Saethre-Chotzen syndrome, Craniosynostosis syndrome, not provided,
Isolated coronal synostosis, Saethre-Chotzen syndrome, FGFR2-related craniosynostosis,
...see more
Conflicting interpretations of pathogenicity
(Apr 1, 2022)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr10:123279620
GRCh38:
Chr10:121520106
FGFR2G271V, G156V, G43V, G182VFGFR2-related craniosynostosis, Crouzon syndromePathogenic/Likely pathogenic
(Jan 5, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr10:123279522
GRCh38:
Chr10:121520008
FGFR2D304N, D76N, D189N, D215NBeare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Gastric cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Bent bone dysplasia syndrome 1, Pfeiffer syndrome, Crouzon syndrome,
Familial scaphocephaly syndrome, McGillivray type, Saethre-Chotzen syndromeFGFR2-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, S163Lnot provided, FGFR2-related craniosynostosis, Crouzon syndrome
Conflicting interpretations of pathogenicity
(Oct 19, 2022)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr10:123274832
GRCh38:
Chr10:121515318
FGFR2FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Gastric cancer, Pfeiffer syndrome, Acrocephalosyndactyly type I,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisCrouzon syndrome,
not provided, ...see more
Likely benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr10:123244914
GRCh38:
Chr10:121485400
FGFR2FGFR2-related craniosynostosis, Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome,
Craniosynostosis syndrome, not provided, Saethre-Chotzen syndrome,
Isolated coronal synostosis
Conflicting interpretations of pathogenicity
(Sep 7, 2022)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr10:123324050
GRCh38:
Chr10:121564536
FGFR2FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Gastric cancer, Pfeiffer syndrome, Acrocephalosyndactyly type I,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisCrouzon syndrome,
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, not provided, Beare-Stevenson cutis gyrata syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Pfeiffer syndromeAcrocephalosyndactyly type I,
Gastric cancer, FGFR2-related craniosynostosis, ...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, G272RBent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome,
Acrocephalosyndactyly type I, Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Saethre-Chotzen syndrome, Beare-Stevenson cutis gyrata syndrome, Neoplasm of stomach,
Jackson-Weiss syndrome, Levy-Hollister syndromeFGFR2-related craniosynostosis,
...see more
Pathogenic
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr10:123325014
GRCh38:
Chr10:121565500
FGFR2Y105CBeare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Crouzon syndrome,
Bent bone dysplasia syndrome 1, Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Acrocephalosyndactyly type I, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Neoplasm of stomachFGFR2-related craniosynostosis,
Bent bone dysplasia syndrome 1, Crouzon syndrome, not provided,
...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, E1325fsCrouzon syndrome, Treacher Collins syndrome, not provided
Pathogenic
(Mar 15, 2016)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr10:123247498
GRCh38:
Chr10:121487984
FGFR2FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Gastric cancer, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Pfeiffer syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Bent bone dysplasia syndrome 1Crouzon syndrome,
not specified, ...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, Pfeiffer syndrome, FGFR2-related craniosynostosis,
Jackson-Weiss syndrome, Pfeiffer syndrome, Gastric cancer,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Bent bone dysplasia syndrome 1, Acrocephalosyndactyly type IAntley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome, ...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, N460HCrouzon syndromeLikely pathogenic
(Sep 17, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr10:123276892
GRCh38:
Chr10:121517378
FGFR2C342S, C227S, C253S, C114SFGFR2-related craniosynostosis, Jackson-Weiss syndrome, not provided,
Crouzon syndrome
Pathogenic
(Jan 1, 2023)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr10:123276904
GRCh38:
Chr10:121517390
FGFR2G338E, G249E, G110E, G223ECrouzon syndrome, FGFR2-related craniosynostosis, Jackson-Weiss syndrome,
Pfeiffer syndrome, Levy-Hollister syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1, Acrocephalosyndactyly type I,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Beare-Stevenson cutis gyrata syndromeCrouzon syndrome,
Neoplasm of stomach, ...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, Crouzon syndromePathogenic
(Aug 12, 2021)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr10:123276910
GRCh38:
Chr10:121517396
FGFR2D336G, D221G, D108G, D247GCrouzon syndromePathogenic/Likely pathogenic
(May 28, 2019)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr10:123279509
GRCh38:
Chr10:121519995
FGFR2Y308C, Y193C, Y219C, Y80CCrouzon syndromePathogenic
(Sep 17, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr10:123279563
GRCh38:
Chr10:121520049
FGFR2W290S, W62S, W201S, W175SCrouzon syndromePathogenic
(Sep 17, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr10:123279590
GRCh38:
Chr10:121520076
FGFR2Y281C, Y166C, Y53C, Y192CFGFR2-related craniosynostosis, not provided, Crouzon syndrome
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, Acrocephalosyndactyly type I,
Crouzon syndrome
Pathogenic/Likely pathogenic
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr10:123325190
GRCh38:
Chr10:121565676
FGFR2Q46HCraniosynostosis, nonspecific, FGFR2-related craniosynostosis, Jackson-Weiss syndrome,
Pfeiffer syndrome, Gastric cancer, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisBeare-Stevenson cutis gyrata syndrome,
Crouzon syndrome, ...see more
Uncertain significance
(Feb 9, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr10:123357947
GRCh38:
Chr10:121598433
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Crouzon syndrome, Saethre-Chotzen syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr10:123357860
GRCh38:
Chr10:121598346
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Crouzon syndrome, Saethre-Chotzen syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr10:123357783
GRCh38:
Chr10:121598269
FGFR2Craniosynostosis syndrome, not provided, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome, Saethre-Chotzen syndrome
Benign
(May 12, 2021)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr10:123357696
GRCh38:
Chr10:121598182
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Crouzon syndrome, Saethre-Chotzen syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr10:123357683
GRCh38:
Chr10:121598169
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Crouzon syndrome, Saethre-Chotzen syndrome
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr10:123357643
GRCh38:
Chr10:121598129
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome
Benign
(Jan 13, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr10:123357621-123357622
GRCh38:
Chr10:121598107-121598108
FGFR2Craniosynostosis syndrome, Levy-Hollister syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Jackson-Weiss syndrome, Crouzon syndrome, Saethre-Chotzen syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr10:123357561
GRCh38:
Chr10:121598047
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Crouzon syndrome, Saethre-Chotzen syndrome
Benign
(Jan 13, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr10:123357561
GRCh38:
Chr10:121598047
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Crouzon syndrome, Saethre-Chotzen syndrome
Benign
(Jan 13, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr10:123357490
GRCh38:
Chr10:121597976
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Crouzon syndrome, Saethre-Chotzen syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr10:123357482
GRCh38:
Chr10:121597968
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, not specified,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome
Benign
(Feb 26, 2020)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr10:123353466
GRCh38:
Chr10:121593952
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Crouzon syndrome, Saethre-Chotzen syndrome
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr10:123353460
GRCh38:
Chr10:121593946
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Crouzon syndrome, Saethre-Chotzen syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
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