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Items: 1 to 100 of 141

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr8:38314957
GRCh38:
Chr8:38457439
FGFR1S36N, S3NPfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Osteoglophonic dysplasia,
Jackson-Weiss syndrome, Encephalocraniocutaneous lipomatosis, Hartsfield-Bixler-Demyer syndrome,
Trigonocephaly 1, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
not provided		Uncertain significance
(Nov 7, 2023)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr10:123246958
GRCh38:
Chr10:121487444
FGFR2FGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Stomach cancerPfeiffer syndrome,
...see more		Likely benign
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr8:38275906
GRCh38:
Chr8:38418388
FGFR1Pfeiffer syndrome, Osteoglophonic dysplasia, Trigonocephaly 1,
Encephalocraniocutaneous lipomatosis, Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Benign/Likely benign
(Jan 8, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr8:38271560
GRCh38:
Chr8:38414042
FGFR1Pfeiffer syndrome, Osteoglophonic dysplasia, Trigonocephaly 1,
Encephalocraniocutaneous lipomatosis, Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr8:38271457
GRCh38:
Chr8:38413939
FGFR1Pfeiffer syndrome, Osteoglophonic dysplasia, Trigonocephaly 1,
Encephalocraniocutaneous lipomatosis, Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Likely benign
(Mar 11, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr8:38285420
GRCh38:
Chr8:38427902
FGFR1Pfeiffer syndrome, Osteoglophonic dysplasia, Trigonocephaly 1,
Encephalocraniocutaneous lipomatosis, Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Likely benign
(Apr 14, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr8:38271798
GRCh38:
Chr8:38414280
FGFR1Osteoglophonic dysplasia, Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Likely benign
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr10:123263408
GRCh38:
Chr10:121503894
FGFR2FGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type,
Acrocephalosyndactyly type I, Stomach cancer, Jackson-Weiss syndrome,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome,
Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisSaethre-Chotzen syndrome,
...see more		Likely benign
(Mar 6, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr8:38275868
GRCh38:
Chr8:38418350
FGFR1Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis,
Jackson-Weiss syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Hartsfield-Bixler-Demyer syndrome,
Trigonocephaly 1, Pfeiffer syndrome, Osteoglophonic dysplasia
Benign/Likely benign
(Feb 4, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr8:38272163
GRCh38:
Chr8:38414645
FGFR1Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, not provided,
Osteoglophonic dysplasia, Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Encephalocraniocutaneous lipomatosis		Likely benign
(Apr 7, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr10:123324001
GRCh38:
Chr10:121564487
FGFR2Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Stomach cancer,
Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Saethre-Chotzen syndrome,
Craniofacial dysostosis, Pfeiffer syndrome, Levy-Hollister syndrome,
Acrocephalosyndactyly type I, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
...see more		Likely benign
(Aug 27, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr8:38287480
GRCh38:
Chr8:38429962
FGFR1Osteoglophonic dysplasia, Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Benign/Likely benign
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr8:38271651
GRCh38:
Chr8:38414133
FGFR1Osteoglophonic dysplasia, Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Likely benign
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr10:123325146
GRCh38:
Chr10:121565632
FGFR2R61HFGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Jackson-Weiss syndrome, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Levy-Hollister syndromeAcrocephalosyndactyly type I,
...see more		Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
15.
GRCh37:
Chr8:38277149
GRCh38:
Chr8:38419631
FGFR1V427I, V307I, V388I, V396I, V305I, V394IHartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia, Trigonocephaly 1,
Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
Conflicting interpretations of pathogenicity
(Jul 26, 2022)		criteria provided, conflicting interpretations
16.
GRCh37:
Chr10:123274833
GRCh38:
Chr10:121515319
FGFR2A134V, A363V, A274V, A362V, A247V, A250V, A273VFGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Jackson-Weiss syndrome, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Levy-Hollister syndromeAcrocephalosyndactyly type I,
...see more		Uncertain significance
(Feb 28, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr8:38287212
GRCh38:
Chr8:38429694
FGFR1V108I, V149I, V116Inot provided, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Hartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia, Pfeiffer syndrome,
Encephalocraniocutaneous lipomatosis		Uncertain significance
(Dec 1, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr10:123263415
GRCh38:
Chr10:121503901
FGFR2P328L, P331L, P441L, P444L, P355L, P327L, P354L, P215L, P326L, P443LBent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Levy-Hollister syndrome, Familial scaphocephaly syndrome, McGillivray type,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Stomach cancer,
Acrocephalosyndactyly type I, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Mar 30, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr10:123274678
GRCh38:
Chr10:121515164
FGFR2A302T, A414T, A299T, A186T, A415T, A325T, A326TBent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Levy-Hollister syndrome, Familial scaphocephaly syndrome, McGillivray type,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Stomach cancer,
Acrocephalosyndactyly type I, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Sep 30, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr8:38285931
GRCh38:
Chr8:38428413
FGFR1D119E, D160E, D38E, D127EHypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome,
Osteoglophonic dysplasia, Trigonocephaly 1, Encephalocraniocutaneous lipomatosis,
Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Pfeiffer syndrome
Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr8:38285494
GRCh38:
Chr8:38427976
FGFR1R181H, R220H, R98H, R100H, R187H, R189HHartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia, Trigonocephaly 1,
Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
Uncertain significance
(Sep 16, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr8:38277221
GRCh38:
Chr8:38419703
FGFR1P372S, P281S, P283S, P364S, P370S, P403SHartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia, Trigonocephaly 1,
Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
Uncertain significance
(Jul 30, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr8:38287385
GRCh38:
Chr8:38429867
FGFR1R58Q, R50Q, R91QHartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia, Pfeiffer syndrome,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Uncertain significance
(May 12, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr8:38271461
GRCh38:
Chr8:38413943
FGFR1R663H, R746H, R665H, R756H, R752H, R787H, R667H, R754HHartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia, Pfeiffer syndrome,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Uncertain significance
(Oct 23, 2021)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr10:123239411
GRCh38:
Chr10:121479897
FGFR2L581P, L694P, L810P, L692P, L693P, L697P, L807P, L720P, L809PAcrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Bent bone dysplasia syndrome 1, Craniofacial dysostosis, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Pfeiffer syndrome, Stomach cancerFGFR2-related craniosynostosis,
...see more		Conflicting interpretations of pathogenicity
(Aug 31, 2022)		criteria provided, conflicting interpretations
26.
GRCh37:
Chr10:123247506
GRCh38:
Chr10:121487992
FGFR2N546S, N550S, N573S, N663S, N434S, N545S, N574S, N662S, N547S, N660SAcrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Bent bone dysplasia syndrome 1, Craniofacial dysostosis, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Pfeiffer syndrome, Stomach cancerFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Sep 20, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr8:38314945
GRCh38:
Chr8:38457427
FGFR1L7R, L40RHartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia, Pfeiffer syndrome,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Uncertain significance
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr8:38271528
GRCh38:
Chr8:38414010
FGFR1R643W, R730W, R724W, R734W, R641W, R645W, R732W, R765WHartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia, Pfeiffer syndrome,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Uncertain significance
(Dec 24, 2021)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr10:123274680
GRCh38:
Chr10:121515166
FGFR2P298L, P185L, P301L, P324L, P325L, P414L, P413LAcrocephalosyndactyly type I, Bent bone dysplasia syndrome 1, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Stomach cancer, Beare-Stevenson cutis gyrata syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndromeFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Mar 1, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr10:123279555
GRCh38:
Chr10:121520041
FGFR2H204Y, H65Y, H178Y, H293YAcrocephalosyndactyly type I, Bent bone dysplasia syndrome 1, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Stomach cancer, Beare-Stevenson cutis gyrata syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndromeFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Oct 12, 2021)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr8:38271477
GRCh38:
Chr8:38413959
FGFR1V658M, V662M, V741M, V749M, V782M, V660M, V747M, V751MHartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia, Pfeiffer syndrome,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Uncertain significance
(May 18, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr8:38271244-38271245
GRCh38:
Chr8:38413726-38413727
FGFR1E782fs, E823fs, E699fs, E703fs, E790fs, E792fs, E701fsHypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis,
Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Trigonocephaly 1, Osteoglophonic dysplasia, Pfeiffer syndrome,
not provided		Uncertain significance
(Nov 8, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr8:38273531
GRCh38:
Chr8:38416013
FGFR1E478K, E480K, E482K, E561K, E567K, E569K, E571K, E602KHartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia, Pfeiffer syndrome,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Uncertain significance
(Sep 3, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr10:123274763
GRCh38:
Chr10:121515249
FGFR2Acrocephalosyndactyly type I, Levy-Hollister syndrome, Familial scaphocephaly syndrome, McGillivray type,
Beare-Stevenson cutis gyrata syndrome, Bent bone dysplasia syndrome 1, Stomach cancer,
Saethre-Chotzen syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosisFGFR2-related craniosynostosis,
not provided, ...see more		Likely benign
(Sep 30, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr10:123258126-123258128
GRCh38:
Chr10:121498612-121498614
FGFR2Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Pfeiffer syndrome, Stomach cancernot provided,
...see more		Uncertain significance
(May 10, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr10:123245027
GRCh38:
Chr10:121485513
FGFR2M465V, M576V, M577V, M578V, M581V, M604V, M605V, M691V, M693V, M694VAcrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Pfeiffer syndrome, Stomach cancernot provided,
...see more		Uncertain significance
(Oct 11, 2021)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr10:123279651
GRCh38:
Chr10:121520137
FGFR2G146R, G172R, G261R, G33RAcrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Pfeiffer syndrome, Stomach cancernot provided,
...see more		Uncertain significance
(May 12, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr10:123325041
GRCh38:
Chr10:121565527
FGFR2G96DFGFR2-related craniosynostosis, Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Bent bone dysplasia syndrome 1, Pfeiffer syndromeStomach cancer,
not provided, ...see more		Uncertain significance
(Aug 21, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr8:38271292
GRCh38:
Chr8:38413774
FGFR1Q682E, Q684E, Q686E, Q765E, Q773E, Q775E, Q806Enot provided, Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Trigonocephaly 1,
Osteoglophonic dysplasia, Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia,
Pfeiffer syndrome		Uncertain significance
(Sep 17, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr8:38275843
GRCh38:
Chr8:38418325
FGFR1R352W, R354W, R356W, R435W, R441W, R443W, R445W, R476Wnot provided, Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Trigonocephaly 1,
Osteoglophonic dysplasia, Encephalocraniocutaneous lipomatosis		Uncertain significance
(May 31, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr8:38285870
GRCh38:
Chr8:38428352
FGFR1P148S, P181S, P59S, R140C, R148C, R59Cnot provided, Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Trigonocephaly 1,
Osteoglophonic dysplasia, Encephalocraniocutaneous lipomatosis		Uncertain significance
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr8:38271189
GRCh38:
Chr8:38413671
FGFR1R716Q, R718Q, R720Q, R799Q, R807Q, R809Q, R840Qnot provided, Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Trigonocephaly 1,
Osteoglophonic dysplasia, Encephalocraniocutaneous lipomatosis		Uncertain significance
(Jul 11, 2021)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr8:38271187
GRCh38:
Chr8:38413669
FGFR1H717Y, H719Y, H721Y, H800Y, H808Y, H810Y, H841Ynot provided, Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Trigonocephaly 1,
Osteoglophonic dysplasia, Encephalocraniocutaneous lipomatosis		Uncertain significance
(Oct 21, 2021)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr8:38273515
GRCh38:
Chr8:38415997
FGFR1R483Q, R485Q, R487Q, R566Q, R572Q, R574Q, R576Q, R607Qnot provided, Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Trigonocephaly 1,
Osteoglophonic dysplasia, Encephalocraniocutaneous lipomatosis		Uncertain significance
(Apr 9, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr8:38277196
GRCh38:
Chr8:38419678
FGFR1Y289C, Y291C, Y372C, Y378C, Y380C, Y411Cnot provided, Trigonocephaly 1, Jackson-Weiss syndrome,
Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome,
Osteoglophonic dysplasia, Hartsfield-Bixler-Demyer syndrome		Uncertain significance
(Sep 23, 2021)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr8:38272160
GRCh38:
Chr8:38414642
FGFR1Trigonocephaly 1, Jackson-Weiss syndrome, Encephalocraniocutaneous lipomatosis,
Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Osteoglophonic dysplasia,
Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome,
not provided		Likely benign
(Jan 13, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr8:38271820
GRCh38:
Chr8:38414302
FGFR1not provided, Trigonocephaly 1, Jackson-Weiss syndrome,
Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome,
Osteoglophonic dysplasia, Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Pfeiffer syndrome		Likely benign
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr8:38285863
GRCh38:
Chr8:38428345
FGFR1Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Trigonocephaly 1,
Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Hartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia,
not provided		Conflicting interpretations of pathogenicity
(Sep 1, 2023)		criteria provided, conflicting interpretations
49.
GRCh37:
Chr10:123324966
GRCh38:
Chr10:121565452
FGFR2M121Tnot provided, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Bent bone dysplasia syndrome 1, Stomach cancer, Beare-Stevenson cutis gyrata syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndromeFamilial scaphocephaly syndrome, McGillivray type,
...see more		Uncertain significance
(Mar 6, 2023)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr8:38275768
GRCh38:
Chr8:38418250
FGFR1R377C, R379C, R381C, R460C, R466C, R468C, R470C, R501CJackson-Weiss syndrome, Osteoglophonic dysplasia, Pfeiffer syndrome,
Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Trigonocephaly 1,
Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome,
Hypogonadotropic hypogonadism 2 with or without anosmia, not provided ...see more		Uncertain significance
(May 4, 2023)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr8:38275493
GRCh38:
Chr8:38417975
FGFR1P390S, P392S, P394S, P473S, P479S, P481S, P483S, P514Snot provided, Trigonocephaly 1, Jackson-Weiss syndrome,
Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome,
Osteoglophonic dysplasia, Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Pfeiffer syndrome		Uncertain significance
(May 26, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr8:38275778
GRCh38:
Chr8:38418260
FGFR1Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Trigonocephaly 1,
Jackson-Weiss syndrome, Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia,
Pfeiffer syndrome, Osteoglophonic dysplasia, Hartsfield-Bixler-Demyer syndrome
Benign/Likely benign
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr8:38285604
GRCh38:
Chr8:38428086
FGFR1Jackson-Weiss syndrome, Encephalocraniocutaneous lipomatosis, Hartsfield-Bixler-Demyer syndrome,
Trigonocephaly 1, Osteoglophonic dysplasia, Pfeiffer syndrome,
Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Likely benign
(Aug 25, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr8:38282042
GRCh38:
Chr8:38424524
FGFR1Jackson-Weiss syndrome, Encephalocraniocutaneous lipomatosis, Hartsfield-Bixler-Demyer syndrome,
Trigonocephaly 1, Osteoglophonic dysplasia, Pfeiffer syndrome,
Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Likely benign
(Sep 3, 2021)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr10:123256163
GRCh38:
Chr10:121496649
FGFR2FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosisBent bone dysplasia syndrome 1,
...see more		Likely benign
(Aug 19, 2021)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr10:123263387
GRCh38:
Chr10:121503873
FGFR2FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosisBent bone dysplasia syndrome 1,
...see more		Likely benign
(May 25, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr10:123239392-123239393
GRCh38:
Chr10:121479878-121479879
FGFR2I587fs, I698fs, I699fs, I700fs, I703fs, I726fs, I813fs, I815fs, I816fsAcrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndrome, Craniofacial dysostosis,
Stomach cancer, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Bent bone dysplasia syndrome 1, Saethre-Chotzen syndromeFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Nov 5, 2021)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr10:123263395
GRCh38:
Chr10:121503881
FGFR2R222C, R333C, R334C, R335C, R338C, R361C, R362C, R448C, R450C, R451CAcrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndrome, Craniofacial dysostosis,
Stomach cancer, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Bent bone dysplasia syndrome 1, Saethre-Chotzen syndromeFGFR2-related craniosynostosis,
not provided, ...see more		Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr8:38285476
GRCh38:
Chr8:38427958
FGFR1K195R, K104R, K106R, K187R, K193R, K226RHypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia, Trigonocephaly 1, Jackson-Weiss syndrome,
Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis, Hartsfield-Bixler-Demyer syndrome
Uncertain significance
(Mar 12, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr8:38279324
GRCh38:
Chr8:38421806
FGFR1V350I, V389I, V269I, V356I, V267I, V358IHypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia, Trigonocephaly 1, Jackson-Weiss syndrome,
Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis, Hartsfield-Bixler-Demyer syndrome
Uncertain significance
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr8:38271265
GRCh38:
Chr8:38413747
FGFR1R691W, R695W, R774W, R782W, R784W, R693W, R815WHypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia, Trigonocephaly 1, Jackson-Weiss syndrome,
Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis, Hartsfield-Bixler-Demyer syndrome
Uncertain significance
(Dec 7, 2021)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr8:38285921
GRCh38:
Chr8:38428403
FGFR1D131N, D42N, D164N, D123NJackson-Weiss syndromeUncertain significance
(Nov 20, 2019)		criteria provided, single submitter
63.
GRCh37:
Chr8:38285890
GRCh38:
Chr8:38428372
FGFR1T133R, T141R, T174R, T52RHypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Trigonocephaly 1,
Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Hartsfield-Bixler-Demyer syndrome,
Osteoglophonic dysplasia, Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(May 4, 2023)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr10:123279644
GRCh38:
Chr10:121520130
FGFR2P148L, P174L, P263L, P35LAcrocephalosyndactyly type I, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Jackson-Weiss syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Levy-Hollister syndromeFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Mar 24, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr10:123353316
GRCh38:
Chr10:121593802
FGFR2R6CAcrocephalosyndactyly type I, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Jackson-Weiss syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Levy-Hollister syndromeFGFR2-related craniosynostosis,
Inborn genetic diseases, ...see more		Conflicting interpretations of pathogenicity
(Mar 26, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr8:38275445
GRCh38:
Chr8:38417927
FGFR1G406R, G408R, G410R, G489R, G495R, G497R, G499R, G530RHypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Hartsfield-Bixler-Demyer syndrome,
Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome, Osteoglophonic dysplasia,
Trigonocephaly 1, Hartsfield-Bixler-Demyer syndrome		Uncertain significance
(Jul 13, 2021)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr10:123260334
GRCh38:
Chr10:121500820
FGFR2Bent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndrome, Stomach cancer,
Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Saethre-Chotzen syndrome, Levy-Hollister syndrome, Pfeiffer syndrome,
Jackson-Weiss syndrome, Acrocephalosyndactyly type IFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Apr 13, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr8:38287327
GRCh38:
Chr8:38429809
FGFR1N110K, N69K, N77KHypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
not provided, Pfeiffer syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Encephalocraniocutaneous lipomatosis,
Hartsfield-Bixler-Demyer syndrome, Trigonocephaly 1 ...see more		Uncertain significance
(Sep 21, 2023)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr8:38287226
GRCh38:
Chr8:38429708
FGFR1T144I, T103I, T111IPfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Osteoglophonic dysplasia,
Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome, Trigonocephaly 1,
Jackson-Weiss syndrome, Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia
Uncertain significance
(Jun 4, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr8:38275834
GRCh38:
Chr8:38418316
FGFR1R448W, R355W, R444W, R357W, R479W, R359W, R438W, R446WEncephalocraniocutaneous lipomatosis, FGFR1-related condition, Hypogonadotropic hypogonadism 2 with or without anosmia,
Hartsfield-Bixler-Demyer syndrome, Pfeiffer syndrome, Osteoglophonic dysplasia,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Encephalocraniocutaneous lipomatosis		Uncertain significance
(Oct 6, 2023)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr8:38271034
GRCh38:
Chr8:38413516
FGFR1Craniosynostosis syndrome, Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia,
Trigonocephaly 1, Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis,
Hartsfield-Bixler-Demyer syndrome, Trigonocephaly 1 ...see more		Uncertain significance
(Apr 19, 2022)		criteria provided, multiple submitters, no conflicts
72.
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
73.
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
74.
GRCh37:
Chr10:123260356
GRCh38:
Chr10:121500842
FGFR2Beare-Stevenson cutis gyrata syndrome, Stomach cancer, Acrocephalosyndactyly type I,
Bent bone dysplasia syndrome 1, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray typenot provided,
...see more		Likely benign
(Nov 16, 2021)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr10:123353268
GRCh38:
Chr10:121593754
FGFR2R22WBeare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Pfeiffer syndrome,
Bent bone dysplasia syndrome 1, Stomach cancerFGFR2-related craniosynostosis,
...see more		Benign/Likely benign
(Jul 12, 2021)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr10:123256148
GRCh38:
Chr10:121496634
FGFR2Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Stomach cancer, Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Pfeiffer syndrome, Craniofacial dysostosisFGFR2-related craniosynostosis,
...see more		Benign/Likely benign
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr10:123243281
GRCh38:
Chr10:121483767
FGFR2Pfeiffer syndrome, Stomach cancer, Bent bone dysplasia syndrome 1,
Jackson-Weiss syndrome, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Beare-Stevenson cutis gyrata syndromeFGFR2-related craniosynostosis,
not provided, ...see more		Benign/Likely benign
(Aug 11, 2021)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr10:123324080
GRCh38:
Chr10:121564566
FGFR2Pfeiffer syndrome, Stomach cancer, Bent bone dysplasia syndrome 1,
Jackson-Weiss syndrome, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Beare-Stevenson cutis gyrata syndromenot provided,
...see more		Likely benign
(Dec 6, 2021)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr8:38274814
GRCh38:
Chr8:38417296
FGFR1Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Trigonocephaly 1,
Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis, Hartsfield-Bixler-Demyer syndrome
Likely benign
(Oct 12, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr10:123247580
GRCh38:
Chr10:121488066
FGFR2FGFR2-related craniosynostosis, Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Beare-Stevenson cutis gyrata syndrome, Stomach cancer, Jackson-Weiss syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Levy-Hollister syndrome, Pfeiffer syndromeBent bone dysplasia syndrome 1,
not provided, ...see more		Likely benign
(Feb 3, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr8:38285914-38285916
GRCh38:
Chr8:38428396-38428398
FGFR1D166del, D133del, D125del, D44delEncephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr8:38271490
GRCh38:
Chr8:38413972
FGFR1Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
Likely benign
(Dec 30, 2021)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr8:38277150
GRCh38:
Chr8:38419632
FGFR1Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
Likely benign
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr8:38271191
GRCh38:
Chr8:38413673
FGFR1Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
Benign/Likely benign
(Sep 20, 2021)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr8:38285432
GRCh38:
Chr8:38427914
FGFR1Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
Likely benign
(May 12, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr8:38271317
GRCh38:
Chr8:38413799
FGFR1Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hartsfield-Bixler-Demyer syndrome, Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome,
not provided		Likely benign
(Dec 3, 2021)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr8:38287269
GRCh38:
Chr8:38429751
FGFR1G97C, G130C, G89CHypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Hartsfield-Bixler-Demyer syndrome,
Trigonocephaly 1, Pfeiffer syndrome, Osteoglophonic dysplasia,
Encephalocraniocutaneous lipomatosis		Uncertain significance
(Jun 28, 2012)		criteria provided, single submitter
88.
GRCh37:
Chr8:38285863
GRCh38:
Chr8:38428345
FGFR1Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Trigonocephaly 1,
Hartsfield-Bixler-Demyer syndrome, Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome,
Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Osteoglophonic dysplasia
Likely pathogenic
(Aug 30, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr8:38318617-38318618
GRCh38:
Chr8:38461099-38461100
FGFR1A3fsnot specified, Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome,
Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Osteoglophonic dysplasia,
Trigonocephaly 1, Encephalocraniocutaneous lipomatosis		Uncertain significance
(Apr 4, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr10:123256174
GRCh38:
Chr10:121496660
FGFR2R579W, R580W, R463W, R464W, R491W, R462W, R490W, R351W, R467W, R577WStomach cancer, Acrocephalosyndactyly type I, Craniofacial dysostosis,
Pfeiffer syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Beare-Stevenson cutis gyrata syndrome,
Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis ...see more		Uncertain significance
(May 17, 2022)		criteria provided, single submitter
91.
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
92.
GRCh37:
Chr10:123279522
GRCh38:
Chr10:121520008
FGFR2D304N, D76N, D189N, D215NFGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Stomach cancer, Acrocephalosyndactyly type I,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome,
Pfeiffer syndrome, Jackson-Weiss syndromeLevy-Hollister syndrome,
...see more		Uncertain significance
(Dec 7, 2021)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr8:38271750
GRCh38:
Chr8:38414232
FGFR1Encephalocraniocutaneous lipomatosis, Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Hartsfield-Bixler-Demyer syndrome, Pfeiffer syndrome,
Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome,
not provided		Likely benign
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr10:123274832
GRCh38:
Chr10:121515318
FGFR2FGFR2-related craniosynostosis, Acrocephalosyndactyly type I, Familial scaphocephaly syndrome, McGillivray type,
Pfeiffer syndrome, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Stomach cancer,
Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisCraniofacial dysostosis,
not provided, ...see more		Likely benign
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr10:123324050
GRCh38:
Chr10:121564536
FGFR2Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I,
Stomach cancer, Craniofacial dysostosis, Familial scaphocephaly syndrome, McGillivray type,
Bent bone dysplasia syndrome 1, Jackson-Weiss syndrome, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Levy-Hollister syndromeFGFR2-related craniosynostosis,
not provided, ...see more		Likely benign
(Mar 1, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr8:38287344
GRCh38:
Chr8:38429826
FGFR1Q72*, Q105*, Q64*Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Pfeiffer syndrome,
Encephalocraniocutaneous lipomatosis, Hartsfield-Bixler-Demyer syndrome, Trigonocephaly 1,
not provided		Pathogenic/Likely pathogenic
(Oct 11, 2021)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr10:123325039
GRCh38:
Chr10:121565525
FGFR2A97Tnot provided, FGFR2-realated disorder, Beare-Stevenson cutis gyrata syndrome,
Acrocephalosyndactyly type I, Craniofacial dysostosis, Familial scaphocephaly syndrome, McGillivray type,
Saethre-Chotzen syndrome, Bent bone dysplasia syndrome 1, Stomach cancer,
Jackson-Weiss syndrome, Levy-Hollister syndromePfeiffer syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, FGFR2-related craniosynostosis, ...see more		Conflicting interpretations of pathogenicity
(Jul 27, 2022)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr10:123274768
GRCh38:
Chr10:121515254
FGFR2G384R, G385R, G156R, G295R, G269R, G296R, G272RBeare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Neoplasm of stomach,
Bent bone dysplasia syndrome 1, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Familial scaphocephaly syndrome, McGillivray type,
Saethre-Chotzen syndrome, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
...see more		Pathogenic
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr8:38272386
GRCh38:
Chr8:38414868
FGFR1Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Trigonocephaly 1,
Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Encephalocraniocutaneous lipomatosis,
not provided		Benign/Likely benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr10:123325014
GRCh38:
Chr10:121565500
FGFR2Y105Cnot provided, Bent bone dysplasia syndrome 1, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Neoplasm of stomach, Levy-Hollister syndrome,
Pfeiffer syndrome, Saethre-Chotzen syndrome, Bent bone dysplasia syndrome 1,
Jackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisCraniofacial dysostosis,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, FGFR2-related craniosynostosis,
...see more		Pathogenic/Likely pathogenic
(Jan 12, 2023)		criteria provided, multiple submitters, no conflicts
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