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: 1 to 100 of 113

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr5:44310584
GRCh38:
Chr5:44310482
FGF10A125DLevy-Hollister syndrome, Congenital absence of salivary glandLikely pathogenic
(Oct 6, 2020)		criteria provided, single submitter
2.
GRCh37:
Chr10:123258081
GRCh38:
Chr10:121498567
FGFR2E306K, E417K, E418K, E419K, E422K, E445K, E446K, E532K, E534K, E535KLevy-Hollister syndromeLikely pathogenic
(May 2, 2022)		no assertion criteria provided
3.
GRCh37:
Chr4:1807549
GRCh38:
Chr4:1805822
FGFR3P461L, P573L, P574L, P575LCervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Thanatophoric dysplasia, type 2,
Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Colorectal cancer,
Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1,
Epidermal nevus, Malignant tumor of urinary bladderHypochondroplasia,
Levy-Hollister syndrome, Germ cell tumor of testis, not provided,
...see more		Uncertain significance
(Dec 15, 2021)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr4:1801055
GRCh38:
Chr4:1799328
FGFR3P62SFGFR3-related disoder, Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome,
Colorectal cancer, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Epidermal nevusMalignant tumor of urinary bladder,
Hypochondroplasia, Levy-Hollister syndrome, Germ cell tumor of testis,
...see more		Uncertain significance
(Feb 1, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr4:1807915
GRCh38:
Chr4:1806188
FGFR3Epidermal nevus, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Cervix cancer, Levy-Hollister syndrome, Malignant tumor of urinary bladder,
Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndromeHypochondroplasia,
Germ cell tumor of testis, Colorectal cancer, not provided,
...see more		Benign/Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr4:1807887
GRCh38:
Chr4:1806160
FGFR3K537R, K649R, K650R, K651RCervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Thanatophoric dysplasia, type 2,
Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Colorectal cancer,
Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1,
Epidermal nevus, Malignant tumor of urinary bladderHypochondroplasia,
Levy-Hollister syndrome, Germ cell tumor of testis, not provided,
...see more		Uncertain significance
(Jan 17, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr4:1807658
GRCh38:
Chr4:1805931
FGFR3Connective tissue disorder, Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome,
Colorectal cancer, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Epidermal nevusMalignant tumor of urinary bladder,
Hypochondroplasia, Levy-Hollister syndrome, Germ cell tumor of testis,
not provided, ...see more		Conflicting interpretations of pathogenicity
(Apr 14, 2022)		criteria provided, conflicting interpretations
8.
GRCh37:
Chr4:1806551
GRCh38:
Chr4:1804824
FGFR3V311L, V423L, V424L, V425LCervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Thanatophoric dysplasia, type 2,
Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Colorectal cancer,
Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1,
Epidermal nevus, Malignant tumor of urinary bladderHypochondroplasia,
Levy-Hollister syndrome, Germ cell tumor of testis, Inborn genetic diseases,
not provided, ...see more		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
9.
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
10.
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
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:
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
20.
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
21.
GRCh37:
Chr5:44388595
GRCh38:
Chr5:44388493
FGF10G64*Levy-Hollister syndrome, not providedPathogenic
(Jul 2, 2020)		criteria provided, multiple submitters, no conflicts
22.
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
23.
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
24.
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
25.
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
26.
GRCh37:
Chr4:1807298
GRCh38:
Chr4:1805571
FGFR3D404G, D516G, D517G, D518GAchondroplasia, Crouzon syndrome-acanthosis nigricans syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Cervix cancer, Malignant tumor of urinary bladder, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Germ cell tumor of testis, Levy-Hollister syndrome,
Muenke syndrome, HypochondroplasiaEpidermal nevus,
Colorectal cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, not provided,
...see more		Uncertain significance
(Jan 5, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr4:1806236
GRCh38:
Chr4:1804509
FGFR3L419F, L421Fnot provided, Achondroplasia, Crouzon syndrome-acanthosis nigricans syndrome,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Cervix cancer, Malignant tumor of urinary bladder,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Germ cell tumor of testis,
Levy-Hollister syndrome, Muenke syndromeHypochondroplasia,
Epidermal nevus, Colorectal cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
...see more		Uncertain significance
(Jul 20, 2021)		criteria provided, multiple submitters, no conflicts
28.
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
29.
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
30.
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
31.
GRCh37:
Chr5:44300489-44312646
FGF10Primary pulmonary hypoplasia, Levy-Hollister syndromePathogenic
(Nov 18, 2020)		criteria provided, single submitter
32.
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
33.
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
34.
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
35.
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
36.
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
37.
GRCh37:
Chr5:44388669
GRCh38:
Chr5:44388567
FGF10A39DLevy-Hollister syndromeUncertain significance
(Sep 6, 2019)		criteria provided, single submitter
38.
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
39.
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
40.
GRCh37:
Chr10:123260357
GRCh38:
Chr10:121500843
FGFR2A287V, A398V, A399V, A400V, A403V, A426V, A427V, A513V, A515V, A516VLevy-Hollister syndromePathogenicno assertion criteria provided
41.
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
42.
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
43.
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
44.
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
45.
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
46.
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
47.
GRCh37:
Chr4:1808981
GRCh38:
Chr4:1807254
FGFR3A782V, R807W, R693W, R805W, R806WAchondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Cervix cancer,
Colorectal cancer, Crouzon syndrome-acanthosis nigricans syndrome, Levy-Hollister syndrome,
Muenke syndrome, Hypochondroplasia, Germ cell tumor of testis,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Malignant tumor of urinary bladderThanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Epidermal nevus, not provided,
...see more		Uncertain significance
(Oct 28, 2021)		criteria provided, multiple submitters, no conflicts
48.
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
49.
GRCh37:
Chr4:1806615
GRCh38:
Chr4:1804888
FGFR3S444F, S446F, S332F, S445FInborn genetic diseasesUncertain significance
(Jan 29, 2021)		criteria provided, single submitter
50.
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
51.
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
52.
GRCh37:
Chr10:123246904
GRCh38:
Chr10:121487390
FGFR2A674V, A675V, A446V, A557V, A562V, A585V, A558V, A559V, A586V, A672VLevy-Hollister syndromeLikely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
53.
GRCh37:
Chr10:123260424
GRCh38:
Chr10:121500910
FGFR2G493W, G494W, G378W, G404W, G265W, G376W, G377W, G405W, G491W, G381WLevy-Hollister syndromeLikely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
54.
GRCh37:
Chr5:44305174
GRCh38:
Chr5:44305072
FGF10G184RLevy-Hollister syndromeLikely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
55.
GRCh37:
Chr5:44305183
GRCh38:
Chr5:44305081
FGF10N181HFGF10-related condition, Levy-Hollister syndromeUncertain significance
(Aug 3, 2023)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr5:44310557
GRCh38:
Chr5:44310455
FGF10M134KLevy-Hollister syndromeLikely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
57.
GRCh37:
Chr5:44310602
GRCh38:
Chr5:44310500
FGF10G119fsLevy-Hollister syndromeLikely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
58.
GRCh37:
Chr5:44388529
GRCh38:
Chr5:44388427
FGF10T86fsLevy-Hollister syndromeLikely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
59.
GRCh37:
Chr5:44388553
GRCh38:
Chr5:44388451
FGF10R78fsLevy-Hollister syndromeLikely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
60.
GRCh37:
Chr5:44388784
GRCh38:
Chr5:44388682
FGF10M1VLevy-Hollister syndromeLikely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
61.
GRCh37:
Chr4:1801071
GRCh38:
Chr4:1799344
FGFR3G67DCrouzon syndrome-acanthosis nigricans syndrome, Achondroplasia, Cervix cancer,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Malignant tumor of testis, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Thanatophoric dysplasia type 1, Malignant tumor of urinary bladder, Thanatophoric dysplasia, type 2,
Levy-Hollister syndrome, Muenke syndromeHypochondroplasia,
Epidermal nevus, Carcinoma of colon, not provided,
...see more		Conflicting interpretations of pathogenicity
(May 7, 2022)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr4:1807823
GRCh38:
Chr4:1806096
FGFR3D628N, D630N, D516N, D629NLevy-Hollister syndromePathogenic
(Jun 6, 2018)		no assertion criteria provided
63.
GRCh37:
Chr4:1808395
GRCh38:
Chr4:1806668
FGFR3N718S, N720S, N719S, N606SInborn genetic diseases, not provided, Thanatophoric dysplasia, type 2,
Malignant tumor of urinary bladder, Epidermal nevus, Carcinoma of colon,
Achondroplasia, Crouzon syndrome-acanthosis nigricans syndrome, Levy-Hollister syndrome,
Thanatophoric dysplasia type 1, HypochondroplasiaMalignant tumor of testis,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Cervix cancer, Muenke syndrome,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, ...see more		Uncertain significance
(Jul 9, 2022)		criteria provided, multiple submitters, no conflicts
64.
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
65.
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
66.
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
67.
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
68.
GRCh37:
Chr4:1808017
GRCh38:
Chr4:1806290
FGFR3A667S, A665S, A553S, A666SAchondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Levy-Hollister syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Epidermal nevus,
Cervix cancer, Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome,
Malignant tumor of urinary bladder, Severe achondroplasia-developmental delay-acanthosis nigricans syndromeMalignant tumor of testis,
Carcinoma of colon, Hypochondroplasia, not provided,
...see more		Uncertain significance
(Jul 22, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr4:1807977
GRCh38:
Chr4:1806250
FGFR3Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Levy-Hollister syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Epidermal nevus,
Germ cell tumor of testis, Cervix cancer, Crouzon syndrome-acanthosis nigricans syndrome,
Muenke syndrome, Malignant tumor of urinary bladderSevere achondroplasia-developmental delay-acanthosis nigricans syndrome,
Colorectal cancer, Hypochondroplasia, not provided,
...see more		Benign/Likely benign
(Feb 15, 2022)		criteria provided, multiple submitters, no conflicts
70.
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
71.
GRCh37:
Chr4:1806119
Chr4:1806111
GRCh38:
Chr4:1804392
Chr4:1804384
FGFR3, FGFR3G380R, G382R, L377R, L379RAchondroplasiaPathogenic
(Feb 1, 2006)		no assertion criteria provided
72.
GRCh37:
Chr10:123247498
GRCh38:
Chr10:121487984
FGFR2FGFR2-related craniosynostosis, Craniofacial dysostosis, Bent bone dysplasia syndrome 1,
Acrocephalosyndactyly type I, Stomach cancer, Jackson-Weiss syndrome,
Pfeiffer syndrome, Familial scaphocephaly syndrome, McGillivray type, Saethre-Chotzen syndrome,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndromeAntley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
not specified, ...see more		Benign/Likely benign
(Sep 13, 2021)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr10:123256215
GRCh38:
Chr10:121496701
FGFR2E565G, E566G, E337G, E477G, E449G, E450G, E448G, E453G, E476G, E563GBent bone dysplasia syndrome 1, Jackson-Weiss syndrome, Stomach cancer,
Levy-Hollister syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisFGFR2-related craniosynostosis,
not provided, Pfeiffer syndrome, ...see more		Pathogenic/Likely pathogenic
(Nov 17, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr10:123276904
GRCh38:
Chr10:121517390
FGFR2G338E, G249E, G110E, G223EFGFR2-related craniosynostosis, Craniofacial dysostosis, Bent bone dysplasia syndrome 1,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Neoplasm of stomach,
Acrocephalosyndactyly type I, Pfeiffer syndromeBeare-Stevenson cutis gyrata syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, ...see more		Pathogenic/Likely pathogenic
(Jul 29, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr10:123325190
GRCh38:
Chr10:121565676
FGFR2Q46HBent bone dysplasia syndrome 1, Jackson-Weiss syndrome, Stomach cancer,
Levy-Hollister syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisCraniosynostosis, nonspecific,
FGFR2-related craniosynostosis, ...see more		Uncertain significance
(Feb 9, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr5:44305092
GRCh38:
Chr5:44304990
FGF10not provided, Levy-Hollister syndrome, Congenital absence of salivary gland
Benign/Likely benign
(Jun 12, 2021)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr5:44305100
GRCh38:
Chr5:44304998
FGF10Levy-Hollister syndrome, not provided, Congenital absence of salivary gland
Conflicting interpretations of pathogenicity
(Oct 18, 2022)		criteria provided, conflicting interpretations
78.
GRCh37:
Chr10:123357621-123357622
GRCh38:
Chr10:121598107-121598108
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Levy-Hollister syndrome,
Jackson-Weiss syndrome, Acrocephalosyndactyly type I, Craniofacial dysostosis,
Pfeiffer syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
79.
GRCh37:
Chr10:123325233-123325234
GRCh38:
Chr10:121565719-121565720
FGFR2Acrocephalosyndactyly type I, Craniosynostosis syndrome, Jackson-Weiss syndrome,
Pfeiffer syndrome, Isolated coronal synostosis, Craniofacial dysostosis,
FGFR2-related craniosynostosis, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome		Conflicting interpretations of pathogenicity
(Oct 4, 2022)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr10:123239174
GRCh38:
Chr10:121479660
FGFR2K682fsCraniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Pfeiffer syndrome, Jackson-Weiss syndrome, Acrocephalosyndactyly type I,
not provided, Craniofacial dysostosis, Levy-Hollister syndrome,
Saethre-Chotzen syndrome		Conflicting interpretations of pathogenicity
(May 1, 2023)		criteria provided, conflicting interpretations
81.
GRCh37:
Chr10:123238727-123238730
GRCh38:
Chr10:121479213-121479216
FGFR2Acrocephalosyndactyly type I, Saethre-Chotzen syndrome, Craniosynostosis syndrome,
Jackson-Weiss syndrome, Pfeiffer syndrome, Isolated coronal synostosis,
Craniofacial dysostosis, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
82.
GRCh37:
Chr10:123238634-123238635
GRCh38:
Chr10:121479120-121479121
FGFR2Jackson-Weiss syndrome, Acrocephalosyndactyly type I, Craniosynostosis syndrome,
Pfeiffer syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome, Levy-Hollister syndrome, Craniofacial dysostosis
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
83.
GRCh37:
Chr10:123238002
GRCh38:
Chr10:121478488
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome, Pfeiffer syndrome, Acrocephalosyndactyly type I,
Familial scaphocephaly syndrome, McGillivray type, Jackson-Weiss syndrome, Bent bone dysplasia syndrome 1,
Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisSaethre-Chotzen syndrome,
Stomach cancer, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Craniofacial dysostosis, ...see more		Uncertain significance
(Jan 13, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr10:123237869-123237873
GRCh38:
Chr10:121478355-121478359
FGFR2Craniosynostosis syndrome, Levy-Hollister syndrome, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Pfeiffer syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
85.
GRCh37:
Chr5:44305104
GRCh38:
Chr5:44305002
FGF10H207Pnot specified, Congenital absence of salivary gland, Levy-Hollister syndrome,
not provided, Congenital absence of salivary gland		Benign/Likely benign
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr4:1801219
GRCh38:
Chr4:1799492
FGFR3Connective tissue disorder, Levy-Hollister syndrome, Malignant tumor of urinary bladder,
Epidermal nevus, Colorectal cancer, Achondroplasia,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Muenke syndrome, HypochondroplasiaCrouzon syndrome-acanthosis nigricans syndrome,
Germ cell tumor of testis, Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2,
not provided, not specified, ...see more		Benign/Likely benign
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr10:123298088
GRCh38:
Chr10:121538574
FGFR2Acrocephalosyndactyly type I, Familial scaphocephaly syndrome, McGillivray type, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Pfeiffer syndrome, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Beare-Stevenson cutis gyrata syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Bent bone dysplasia syndrome 1FGFR2-related craniosynostosis,
...see more		Likely benign
(Oct 12, 2021)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr4:1806131
GRCh38:
Chr4:1804404
FGFR3F384L, F386LAchondroplasia, Crouzon syndrome-acanthosis nigricans syndrome, Hypochondroplasia,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Colorectal cancer,
Cervix cancer, Muenke syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Germ cell tumor of testisLevy-Hollister syndrome,
Malignant tumor of urinary bladder, Epidermal nevus, Connective tissue disorder,
not specified, not provided, Hypochondroplasia,
...see more		Benign/Likely benign
(Aug 1, 2023)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr10:123353315
GRCh38:
Chr10:121593801
FGFR2R6PBeare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Levy-Hollister syndrome,
Craniofacial dysostosis, Bent bone dysplasia syndrome 1FGFR2-related craniosynostosis,
Craniosynostosis syndrome, not specified, not provided,
Isolated coronal synostosis, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome, ...see more		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr4:1807876
GRCh38:
Chr4:1806149
FGFR3Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Muenke syndrome,
Thanatophoric dysplasia type 1, Germ cell tumor of testis, Thanatophoric dysplasia, type 2,
Epidermal nevus, Cervix cancer, Levy-Hollister syndrome,
Colorectal cancer, Crouzon syndrome-acanthosis nigricans syndromeHypochondroplasia,
Malignant tumor of urinary bladder, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, not provided,
...see more		Benign/Likely benign
(Aug 8, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr4:1807890
GRCh38:
Chr4:1806163
FGFR3K650T, K652T, K538T, K651TFGFR3-related condition, FGFR3-related disorder, Achondroplasia,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Malignant tumor of urinary bladder, Carcinoma of colon,
Cervix cancer, Hypochondroplasia, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Malignant tumor of testis, Crouzon syndrome-acanthosis nigricans syndromeLevy-Hollister syndrome,
Muenke syndrome, Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2,
Epidermal nevus, not provided, ...see more		Pathogenic
(Aug 16, 2023)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr4:1808988
GRCh38:
Chr4:1807261
FGFR3Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Malignant tumor of urinary bladder,
Colorectal cancer, Germ cell tumor of testis, Cervix cancer,
Hypochondroplasia, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Crouzon syndrome-acanthosis nigricans syndrome,
Levy-Hollister syndrome, Muenke syndromeThanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Epidermal nevus, not provided,
...see more		Pathogenic
(Aug 8, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr4:1801122
GRCh38:
Chr4:1799395
FGFR3S84LAchondroplasia, Hypochondroplasia, Levy-Hollister syndrome,
Crouzon syndrome-acanthosis nigricans syndrome, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Muenke syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
not provided, Achondroplasia ...see more		Pathogenic/Likely pathogenic
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr4:1807288
GRCh38:
Chr4:1805561
FGFR3D513N, D515N, D401N, D514Nnot specified, not providedUncertain significance
(Mar 6, 2023)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr4:1807891
GRCh38:
Chr4:1806164
FGFR3K650N, K652N, K651N, K538NMalignant tumor of urinary bladder, Thanatophoric dysplasia, type 2, Achondroplasia,
Germ cell tumor of testis, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Hypochondroplasia,
Levy-Hollister syndrome, Cervix cancer, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Colorectal cancer, Epidermal nevusThanatophoric dysplasia type 1,
Muenke syndrome, Crouzon syndrome-acanthosis nigricans syndrome, not provided,
Hypochondroplasia, ...see more		Pathogenic/Likely pathogenic
(Mar 17, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr4:1807890
GRCh38:
Chr4:1806163
FGFR3K650M, K652M, K538M, K651MMalignant tumor of urinary bladder, Thanatophoric dysplasia, type 2, Achondroplasia,
Germ cell tumor of testis, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Hypochondroplasia,
Levy-Hollister syndrome, Cervix cancer, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Colorectal cancer, Epidermal nevusThanatophoric dysplasia type 1,
Muenke syndrome, Crouzon syndrome-acanthosis nigricans syndrome, not provided,
Hypochondroplasia, ...see more		Pathogenic
(Sep 29, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr4:1803571
GRCh38:
Chr4:1801844
FGFR3P250RInborn genetic diseases, FGFR3-related chondrodysplasia, Malignant tumor of urinary bladder,
Thanatophoric dysplasia, type 2, Achondroplasia, Germ cell tumor of testis,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Hypochondroplasia, Levy-Hollister syndrome,
Cervix cancer, Camptodactyly-tall stature-scoliosis-hearing loss syndromeColorectal cancer,
Epidermal nevus, Thanatophoric dysplasia type 1, Muenke syndrome,
Crouzon syndrome-acanthosis nigricans syndrome, Craniofacial dysostosis, Seizure,
Infantile axial hypotonia, Coronal craniosynostosis, Generalized non-motor (absence) seizure,
Unilateral renal agenesis, Facial asymmetry, Craniosynostosis syndrome,
not provided, Muenke syndrome, Hypochondroplasia,
Achondroplasia, Abnormality of the nervous system, ...see more		Pathogenic/Likely pathogenic
(Mar 21, 2023)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr4:1803568
GRCh38:
Chr4:1801841
FGFR3S249CFGFR3-related condition, Connective tissue disorder, Malignant tumor of urinary bladder,
Thanatophoric dysplasia, type 2, Achondroplasia, Carcinoma of colon,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Hypochondroplasia, Levy-Hollister syndrome,
Cervix cancer, Camptodactyly-tall stature-scoliosis-hearing loss syndromeMalignant tumor of testis,
Epidermal nevus, Thanatophoric dysplasia type 1, Muenke syndrome,
Crouzon syndrome-acanthosis nigricans syndrome, not provided, Cervix cancer,
Malignant tumor of urinary bladder, Thanatophoric dysplasia type 1, ...see more		Pathogenic
(Feb 23, 2023)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr4:1807371
GRCh38:
Chr4:1805644
FGFR3N540K, N542K, N541K, N428KConnective tissue disorder, Inborn genetic diseases, Malignant tumor of urinary bladder,
Thanatophoric dysplasia, type 2, Achondroplasia, Carcinoma of colon,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Hypochondroplasia, Levy-Hollister syndrome,
Cervix cancer, Camptodactyly-tall stature-scoliosis-hearing loss syndromeMalignant tumor of testis,
Epidermal nevus, Thanatophoric dysplasia type 1, Muenke syndrome,
Crouzon syndrome-acanthosis nigricans syndrome, not provided, Larsen syndrome,
Hypochondroplasia, Achondroplasia, Short stature,
...see more		Pathogenic/Likely pathogenic
(Oct 14, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr4:1808987
GRCh38:
Chr4:1807260
FGFR3V784ESevere achondroplasia-developmental delay-acanthosis nigricans syndrome, Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome,
Achondroplasia, Colorectal cancer, Epidermal nevus,
Muenke syndrome, Cervix cancer, Germ cell tumor of testis,
Malignant tumor of urinary bladder, Levy-Hollister syndromeCamptodactyly-tall stature-scoliosis-hearing loss syndrome,
Hypochondroplasia, Thanatophoric dysplasia type 1, not provided,
...see more		Pathogenic
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination