U.S. flag

An official website of the United States government

Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 68

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr10:123276979
GRCh38:
Chr10:121517465
FGFR2Acrocephalosyndactyly type IPathogenic
(May 4, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr10:123246958
GRCh38:
Chr10:121487444
FGFR2Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Stomach cancer, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Acrocephalosyndactyly type I, Levy-Hollister syndromeFGFR2-related craniosynostosis,
...see more		Likely benign
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr10:123263408
GRCh38:
Chr10:121503894
FGFR2Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Stomach cancer, Jackson-Weiss syndrome,
Saethre-Chotzen syndrome, Levy-Hollister syndromeFGFR2-related craniosynostosis,
...see more		Likely benign
(Mar 6, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr10:123324001
GRCh38:
Chr10:121564487
FGFR2Bent bone dysplasia syndrome 1, Craniofacial dysostosis, Familial scaphocephaly syndrome, McGillivray type,
Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Stomach cancer, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
...see more		Likely benign
(Aug 27, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr10:123325146
GRCh38:
Chr10:121565632
FGFR2R61HBent bone dysplasia syndrome 1, Craniofacial dysostosis, Familial scaphocephaly syndrome, McGillivray type,
Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Stomach cancer, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
...see more		Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
6.
GRCh37:
Chr10:123274833
GRCh38:
Chr10:121515319
FGFR2A134V, A363V, A274V, A362V, A247V, A250V, A273VBent bone dysplasia syndrome 1, Craniofacial dysostosis, Familial scaphocephaly syndrome, McGillivray type,
Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Stomach cancer, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Feb 28, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr10:123263415
GRCh38:
Chr10:121503901
FGFR2P328L, P331L, P441L, P444L, P355L, P327L, P354L, P215L, P326L, P443LFGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Craniofacial dysostosis,
Stomach cancer, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Familial scaphocephaly syndrome, McGillivray type, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type IPfeiffer syndrome,
...see more		Uncertain significance
(Mar 30, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr10:123274678
GRCh38:
Chr10:121515164
FGFR2A302T, A414T, A299T, A186T, A415T, A325T, A326TFGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Craniofacial dysostosis,
Stomach cancer, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Familial scaphocephaly syndrome, McGillivray type, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type IPfeiffer syndrome,
...see more		Uncertain significance
(Sep 30, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr10:123239411
GRCh38:
Chr10:121479897
FGFR2L581P, L694P, L810P, L692P, L693P, L697P, L807P, L720P, L809PBent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Jackson-Weiss syndrome, Saethre-Chotzen syndromeFGFR2-related craniosynostosis,
...see more		Conflicting interpretations of pathogenicity
(Aug 31, 2022)		criteria provided, conflicting interpretations
10.
GRCh37:
Chr10:123247506
GRCh38:
Chr10:121487992
FGFR2N546S, N550S, N573S, N663S, N434S, N545S, N574S, N662S, N547S, N660SBent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Jackson-Weiss syndrome, Saethre-Chotzen syndromeFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Sep 20, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr10:123274680
GRCh38:
Chr10:121515166
FGFR2P298L, P185L, P301L, P324L, P325L, P414L, P413LBent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Jackson-Weiss syndrome, Saethre-Chotzen syndromeFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Mar 1, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr10:123279555
GRCh38:
Chr10:121520041
FGFR2H204Y, H65Y, H178Y, H293YBent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Jackson-Weiss syndrome, Saethre-Chotzen syndromeFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Oct 12, 2021)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr10:123274763
GRCh38:
Chr10:121515249
FGFR2FGFR2-related craniosynostosis, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, Stomach cancerBent bone dysplasia syndrome 1,
not provided, ...see more		Likely benign
(Sep 30, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr10:123258126-123258128
GRCh38:
Chr10:121498612-121498614
FGFR2Acrocephalosyndactyly type I, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Beare-Stevenson cutis gyrata syndrome,
Stomach cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis,
Pfeiffer syndrome, Bent bone dysplasia syndrome 1not provided,
...see more		Uncertain significance
(May 10, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr10:123245027
GRCh38:
Chr10:121485513
FGFR2M465V, M576V, M577V, M578V, M581V, M604V, M605V, M691V, M693V, M694Vnot provided, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Beare-Stevenson cutis gyrata syndrome, Stomach cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, Pfeiffer syndromeBent bone dysplasia syndrome 1,
...see more		Uncertain significance
(Oct 11, 2021)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr10:123279651
GRCh38:
Chr10:121520137
FGFR2G146R, G172R, G261R, G33Rnot provided, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Beare-Stevenson cutis gyrata syndrome, Stomach cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, Pfeiffer syndromeBent bone dysplasia syndrome 1,
...see more		Uncertain significance
(May 12, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr10:123325041
GRCh38:
Chr10:121565527
FGFR2G96Dnot provided, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Beare-Stevenson cutis gyrata syndrome, Stomach cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, Pfeiffer syndromeBent bone dysplasia syndrome 1,
FGFR2-related craniosynostosis, ...see more		Uncertain significance
(Aug 21, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr10:123247531
GRCh38:
Chr10:121488017
FGFR2I426V, I537V, I538V, I539V, I542V, I565V, I566V, I652V, I654V, I655VAcrocephalosyndactyly type IUncertain significance
(Jan 4, 2021)		criteria provided, single submitter
19.
GRCh37:
Chr10:123324966
GRCh38:
Chr10:121565452
FGFR2M121TAcrocephalosyndactyly type I, Jackson-Weiss syndrome, Craniofacial dysostosis,
Bent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndrome, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Stomach cancer,
Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisnot provided,
...see more		Uncertain significance
(Mar 6, 2023)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr10:123256163
GRCh38:
Chr10:121496649
FGFR2FGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type,
Acrocephalosyndactyly type I, Levy-Hollister syndrome, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Stomach cancerJackson-Weiss syndrome,
...see more		Likely benign
(Aug 19, 2021)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr10:123263387
GRCh38:
Chr10:121503873
FGFR2FGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type,
Acrocephalosyndactyly type I, Levy-Hollister syndrome, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Stomach cancerJackson-Weiss syndrome,
...see more		Likely benign
(May 25, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr10:123276856
GRCh38:
Chr10:121517342
FGFR2S126F, S239F, S265F, S354FFGFR2-related craniosynostosis, Acrocephalosyndactyly type IPathogenic
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr10:123239392-123239393
GRCh38:
Chr10:121479878-121479879
FGFR2I587fs, I698fs, I699fs, I700fs, I703fs, I726fs, I813fs, I815fs, I816fsFGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Pfeiffer syndrome,
Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Stomach cancer, Levy-Hollister syndrome,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndromeSaethre-Chotzen syndrome,
...see more		Uncertain significance
(Nov 5, 2021)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr10:123263395
GRCh38:
Chr10:121503881
FGFR2R222C, R333C, R334C, R335C, R338C, R361C, R362C, R448C, R450C, R451Cnot provided, Bent bone dysplasia syndrome 1, Pfeiffer syndrome,
Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Stomach cancer, Levy-Hollister syndrome,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndromeSaethre-Chotzen syndrome,
FGFR2-related craniosynostosis, ...see more		Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr10:123279644
GRCh38:
Chr10:121520130
FGFR2P148L, P174L, P263L, P35LBeare-Stevenson cutis gyrata syndrome, Familial scaphocephaly syndrome, McGillivray type, Levy-Hollister syndrome,
Stomach cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Craniofacial dysostosis, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Jackson-Weiss syndrome, Bent bone dysplasia syndrome 1FGFR2-related craniosynostosis,
...see more		Uncertain significance
(Mar 24, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr10:123353316
GRCh38:
Chr10:121593802
FGFR2R6CBeare-Stevenson cutis gyrata syndrome, Familial scaphocephaly syndrome, McGillivray type, Levy-Hollister syndrome,
Stomach cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Craniofacial dysostosis, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Jackson-Weiss syndrome, Bent bone dysplasia syndrome 1FGFR2-related craniosynostosis,
Inborn genetic diseases, ...see more		Conflicting interpretations of pathogenicity
(Mar 26, 2022)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr10:123260334
GRCh38:
Chr10:121500820
FGFR2Bent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndrome, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Stomach cancer, Levy-Hollister syndrome,
Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Jackson-Weiss syndrome,
Acrocephalosyndactyly type I, Saethre-Chotzen syndromeFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Apr 13, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr10:123279660
GRCh38:
Chr10:121520146
FGFR2L143F, L169F, L258F, L30FFGFR2-related craniosynostosis, Craniosynostosis syndrome, Isolated coronal synostosis,
Acrocephalosyndactyly type I, Jackson-Weiss syndrome, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisLevy-Hollister syndrome,
Craniofacial dysostosis, Stomach cancer, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome, ...see more		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr10:123353348
GRCh38:
Chr10:121593834
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Acrocephalosyndactyly type I, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome, Bent bone dysplasia syndrome 1,
Pfeiffer syndrome, Stomach cancerAntley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, ...see more		Uncertain significance
(May 22, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr10:123279674
GRCh38:
Chr10:121520160
FGFR2P138L, P253L, P164L, P25LFGFR2-related craniosynostosis, Inborn genetic diseases, Acrocephalosyndactyly type I
Conflicting interpretations of pathogenicity
(Sep 1, 2021)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr10:123260356
GRCh38:
Chr10:121500842
FGFR2Pfeiffer syndrome, Acrocephalosyndactyly type I, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1, Jackson-Weiss syndrome,
Stomach cancer, Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndromenot provided,
...see more		Likely benign
(Nov 16, 2021)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr10:123353268
GRCh38:
Chr10:121593754
FGFR2R22WJackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I,
Levy-Hollister syndrome, Craniofacial dysostosis, Bent bone dysplasia syndrome 1,
Stomach cancer, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Beare-Stevenson cutis gyrata syndromeFGFR2-related craniosynostosis,
...see more		Benign/Likely benign
(Jul 12, 2021)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr10:123256148
GRCh38:
Chr10:121496634
FGFR2FGFR2-related craniosynostosis, Pfeiffer syndrome, Bent bone dysplasia syndrome 1,
Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Levy-Hollister syndrome, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray typeStomach cancer,
...see more		Benign/Likely benign
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr10:123243281
GRCh38:
Chr10:121483767
FGFR2FGFR2-related craniosynostosis, Stomach cancer, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I,
Levy-Hollister syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndromeBent bone dysplasia syndrome 1,
not provided, ...see more		Benign/Likely benign
(Aug 11, 2021)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr10:123324080
GRCh38:
Chr10:121564566
FGFR2Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Stomach cancer, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Pfeiffer syndrome,
Craniofacial dysostosis, Bent bone dysplasia syndrome 1not provided,
...see more		Likely benign
(Dec 6, 2021)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr10:123247580
GRCh38:
Chr10:121488066
FGFR2Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Stomach cancer, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Pfeiffer syndrome,
Craniofacial dysostosis, Bent bone dysplasia syndrome 1not provided,
FGFR2-related craniosynostosis, ...see more		Likely benign
(Feb 3, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr10:123256174
GRCh38:
Chr10:121496660
FGFR2R579W, R580W, R463W, R464W, R491W, R462W, R490W, R351W, R467W, R577WAcrocephalosyndactyly type I, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Stomach cancer, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis,
Bent bone dysplasia syndrome 1, Pfeiffer syndrome ...see more		Uncertain significance
(May 17, 2022)		criteria provided, single submitter
38.
GRCh37:
Chr10:123276928
GRCh38:
Chr10:121517414
FGFR2R330Q, R102Q, R241Q, R215Qnot provided, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome,
FGFR2-related craniosynostosis, Acrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Craniofacial dysostosis,
Pfeiffer syndrome, Saethre-Chotzen syndromeFamilial scaphocephaly syndrome, McGillivray type,
Neoplasm of stomach, Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
...see more		Conflicting interpretations of pathogenicity
(Apr 1, 2022)		criteria provided, conflicting interpretations
39.
GRCh37:
Chr10:123279522
GRCh38:
Chr10:121520008
FGFR2D304N, D76N, D189N, D215NAcrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome, Stomach cancer,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Craniofacial dysostosis,
Pfeiffer syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Dec 7, 2021)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr10:123274832
GRCh38:
Chr10:121515318
FGFR2Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis,
Stomach cancer, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Pfeiffer syndrome, Bent bone dysplasia syndrome 1,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray typeFGFR2-related craniosynostosis,
not provided, ...see more		Likely benign
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr10:123324050
GRCh38:
Chr10:121564536
FGFR2Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis,
Stomach cancer, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Pfeiffer syndrome, Bent bone dysplasia syndrome 1,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray typeFGFR2-related craniosynostosis,
not provided, ...see more		Likely benign
(Mar 1, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr10:123325039
GRCh38:
Chr10:121565525
FGFR2A97TFGFR2-realated disorder, FGFR2-related craniosynostosis, not provided,
Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosisJackson-Weiss syndrome,
Levy-Hollister syndrome, Bent bone dysplasia syndrome 1, ...see more		Conflicting interpretations of pathogenicity
(Jul 27, 2022)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr10:123274768
GRCh38:
Chr10:121515254
FGFR2G384R, G385R, G156R, G295R, G269R, G296R, G272RFGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Acrocephalosyndactyly type I,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome,
Jackson-Weiss syndrome, Levy-Hollister syndromeNeoplasm of stomach,
...see more		Pathogenic
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr10:123325014
GRCh38:
Chr10:121565500
FGFR2Y105Cnot provided, Bent bone dysplasia syndrome 1, FGFR2-related craniosynostosis,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Pfeiffer syndromeCraniofacial dysostosis,
Acrocephalosyndactyly type I, Neoplasm of stomach, Craniofacial dysostosis,
...see more		Pathogenic/Likely pathogenic
(Jan 12, 2023)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr10:123247498
GRCh38:
Chr10:121487984
FGFR2Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Stomach cancer,
Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I, Craniofacial dysostosis,
Bent bone dysplasia syndrome 1, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Jackson-Weiss syndrome, Pfeiffer syndromenot specified,
FGFR2-related craniosynostosis, ...see more		Benign/Likely benign
(Sep 13, 2021)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr10:123256215
GRCh38:
Chr10:121496701
FGFR2E565G, E566G, E337G, E477G, E449G, E450G, E448G, E453G, E476G, E563Gnot provided, FGFR2-related craniosynostosis, Pfeiffer syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Stomach cancer, Beare-Stevenson cutis gyrata syndromeJackson-Weiss syndrome,
Pfeiffer syndrome, Craniofacial dysostosis, ...see more		Pathogenic/Likely pathogenic
(Nov 17, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr10:123276904
GRCh38:
Chr10:121517390
FGFR2G338E, G249E, G110E, G223EAntley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1,
Neoplasm of stomach, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Pfeiffer syndrome, Craniofacial dysostosisFGFR2-related craniosynostosis,
Craniofacial dysostosis, ...see more		Pathogenic/Likely pathogenic
(Jul 29, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr10:123325190
GRCh38:
Chr10:121565676
FGFR2Q46HCraniosynostosis, nonspecific, FGFR2-related craniosynostosis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Acrocephalosyndactyly type I, Levy-Hollister syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Bent bone dysplasia syndrome 1, Stomach cancer,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndromePfeiffer syndrome,
Craniofacial dysostosis, ...see more		Uncertain significance
(Feb 9, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr10:123357621-123357622
GRCh38:
Chr10:121598107-121598108
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Craniofacial dysostosis,
Pfeiffer syndrome, Jackson-Weiss syndrome, Acrocephalosyndactyly type I,
Beare-Stevenson cutis gyrata syndrome, Levy-Hollister syndrome, Saethre-Chotzen syndrome
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
50.
GRCh37:
Chr10:123325233-123325234
GRCh38:
Chr10:121565719-121565720
FGFR2Isolated coronal synostosis, FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome,
Craniosynostosis syndrome, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Craniofacial dysostosis,
Saethre-Chotzen syndrome		Conflicting interpretations of pathogenicity
(Oct 4, 2022)		criteria provided, conflicting interpretations
51.
GRCh37:
Chr10:123239174
GRCh38:
Chr10:121479660
FGFR2K682fsIsolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome,
Craniosynostosis syndrome, Craniofacial dysostosis, not provided,
Levy-Hollister syndrome, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Pfeiffer syndrome		Conflicting interpretations of pathogenicity
(Sep 6, 2022)		criteria provided, conflicting interpretations
52.
GRCh37:
Chr10:123238727-123238730
GRCh38:
Chr10:121479213-121479216
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome,
Acrocephalosyndactyly type I, Jackson-Weiss syndrome, Saethre-Chotzen syndrome,
Levy-Hollister syndrome, Pfeiffer syndrome, Craniofacial dysostosis
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
53.
GRCh37:
Chr10:123238634-123238635
GRCh38:
Chr10:121479120-121479121
FGFR2Beare-Stevenson cutis gyrata syndrome, Isolated coronal synostosis, Craniofacial dysostosis,
Craniosynostosis syndrome, Levy-Hollister syndrome, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
54.
GRCh37:
Chr10:123238002
GRCh38:
Chr10:121478488
FGFR2Craniofacial dysostosis, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Craniosynostosis syndrome, Levy-Hollister syndrome, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Bent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndromePfeiffer syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Stomach cancer,
Saethre-Chotzen syndrome, ...see more		Uncertain significance
(Jan 13, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr10:123237869-123237873
GRCh38:
Chr10:121478355-121478359
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Acrocephalosyndactyly type I, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Craniosynostosis syndrome, Levy-Hollister syndrome, Craniofacial dysostosis
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
56.
GRCh37:
Chr10:123298088
GRCh38:
Chr10:121538574
FGFR2Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Pfeiffer syndrome, Craniofacial dysostosis,
Bent bone dysplasia syndrome 1, Stomach cancerFGFR2-related craniosynostosis,
...see more		Likely benign
(Oct 12, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr10:123353315
GRCh38:
Chr10:121593801
FGFR2R6PLevy-Hollister syndrome, Craniofacial dysostosis, Acrocephalosyndactyly type I,
Pfeiffer syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Bent bone dysplasia syndrome 1, Stomach cancer, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisFGFR2-related craniosynostosis,
Craniosynostosis syndrome, not specified, Isolated coronal synostosis,
not provided, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome, ...see more		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr10:123279674-123279676
GRCh38:
Chr10:121520160-121520162
FGFR2P138F, P164F, P253F, P25FAcrocephalosyndactyly type IPathogenicno assertion criteria provided
59.
GRCh37:
Chr10:123276830
GRCh38:
Chr10:121517316
FGFR2FGFR2-related craniosynostosis, not provided, Pfeiffer syndrome
Pathogenic
(Apr 25, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr10:123279562
GRCh38:
Chr10:121520048
FGFR2W290C, W175C, W62C, W201CBent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Pfeiffer syndrome,
Stomach cancer, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Craniofacial dysostosis, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
not provided, Pfeiffer syndrome, ...see more		Pathogenic
(Jun 9, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr10:123276974
GRCh38:
Chr10:121517460
FGFR2A315S, A226S, A87S, A200SStomach cancer, Bent bone dysplasia syndrome 1, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I,
Levy-Hollister syndrome, Craniofacial dysostosis, Jackson-Weiss syndrome,
Pfeiffer syndrome, Beare-Stevenson cutis gyrata syndromeFGFR2-related craniosynostosis,
not provided, Craniofacial dysostosis, ...see more		Pathogenic
(Jun 4, 2022)		criteria provided, multiple submitters, no conflicts
62.
FGFR2Acrocephalosyndactyly type IPathogenic
(Feb 1, 1999)		no assertion criteria provided
63.
GRCh37:
Chr10:123279676-123279677
GRCh38:
Chr10:121520162-121520163
FGFR2S252F, S137F, S163F, S24FAcrocephalosyndactyly type ILikely pathogenic
(Sep 17, 2016)		criteria provided, single submitter
64.
GRCh37:
Chr10:123274794
GRCh38:
Chr10:121515280
FGFR2Y375C, Y376C, Y263C, Y147C, Y286C, Y287C, Y260CFGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I,
Levy-Hollister syndrome, Neoplasm of stomach, Craniofacial dysostosis,
Jackson-Weiss syndrome, Pfeiffer syndromeBeare-Stevenson cutis gyrata syndrome,
not provided, Beare-Stevenson cutis gyrata syndrome, ...see more		Pathogenic/Likely pathogenic
(Mar 26, 2023)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr10:123279674
GRCh38:
Chr10:121520160
FGFR2P253R, P138R, P164R, P25RFGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Pfeiffer syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Neoplasm of stomach, Craniofacial dysostosisJackson-Weiss syndrome,
not provided, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I,
...see more		Pathogenic/Likely pathogenic
(Apr 25, 2023)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr10:123279677
GRCh38:
Chr10:121520163
FGFR2S252W, S137W, S163W, S24WBent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Pfeiffer syndrome,
Stomach cancer, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Craniofacial dysostosis, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
not provided, Acrocephalosyndactyly type I, ...see more		Pathogenic
(May 1, 2023)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr10:123276885
GRCh38:
Chr10:121517371
FGFR2FGFR2-related disorder, Stomach cancer, Bent bone dysplasia syndrome 1,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Acrocephalosyndactyly type I, Levy-Hollister syndrome, Craniofacial dysostosis,
Jackson-Weiss syndrome, Pfeiffer syndromeBeare-Stevenson cutis gyrata syndrome,
FGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I,
Levy-Hollister syndrome, Neoplasm of stomach, Craniofacial dysostosis,
Jackson-Weiss syndrome, Pfeiffer syndrome, Beare-Stevenson cutis gyrata syndrome,
Craniosynostosis syndrome, not provided, Acrocephalosyndactyly type I,
Craniofacial dysostosis, Pfeiffer syndrome, ...see more		Pathogenic
(Aug 21, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr10:123276892
GRCh38:
Chr10:121517378
FGFR2C342Y, C253Y, C227Y, C114YFGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Neoplasm of stomach,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Pfeiffer syndrome, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Levy-Hollister syndromeJackson-Weiss syndrome,
Craniosynostosis syndrome, not provided, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, ...see more		Pathogenic/Likely pathogenic
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination