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Items: 1 to 100 of 207

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:
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
20.
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
21.
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
22.
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
23.
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
24.
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
25.
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
26.
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
27.
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
28.
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
29.
GRCh37:
Chr8:38279390
GRCh38:
Chr8:38421872
FGFR1A245T, A247T, A328T, A334T, A336T, A367TOsteoglophonic dysplasia, Trigonocephaly 1Uncertain significance
(Oct 25, 2021)		criteria provided, multiple submitters, no conflicts
30.
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
31.
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
32.
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
33.
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
34.
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
35.
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
36.
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
37.
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
38.
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
39.
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
40.
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
41.
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
42.
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
43.
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
44.
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
45.
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
46.
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
47.
GRCh37:
Chr8:38282102
GRCh38:
Chr8:38424584
FGFR1Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr8:38274947
GRCh38:
Chr8:38417429
FGFR1Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
Benign/Likely benign
(Aug 21, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr8:38271456
GRCh38:
Chr8:38413938
FGFR1V758M, V665M, V756M, V789M, V669M, V754M, V667M, V748Mnot provided, Trigonocephaly 1, Craniosynostosis syndrome,
Osteoglophonic dysplasia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Aug 3, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr8:38270915
GRCh38:
Chr8:38413397
FGFR1Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
51.
GRCh37:
Chr8:38270218
GRCh38:
Chr8:38412700
LOC102723716, FGFR1Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
52.
GRCh37:
Chr8:38270091
GRCh38:
Chr8:38412573
FGFR1, LOC102723716T770M, T681M, T768MCraniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
53.
GRCh37:
Chr8:38269423
GRCh38:
Chr8:38411905
FGFR1, LOC102723716Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
54.
GRCh37:
Chr8:38325965
GRCh38:
Chr8:38468447
FGFR1Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr8:38326157
GRCh38:
Chr8:38468639
FGFR1Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
56.
GRCh37:
Chr8:38325962
GRCh38:
Chr8:38468444
FGFR1Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
57.
GRCh37:
Chr8:38325932
GRCh38:
Chr8:38468414
FGFR1Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr8:38325730
GRCh38:
Chr8:38468212
FGFR1Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr8:38325527
GRCh38:
Chr8:38468009
FGFR1, LOC130000232Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr8:38325526
GRCh38:
Chr8:38468008
FGFR1, LOC130000232Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
61.
GRCh37:
Chr8:38287284
GRCh38:
Chr8:38429766
FGFR1V125M, V84M, V92MCraniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
Conflicting interpretations of pathogenicity
(Mar 30, 2022)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr8:38277071
GRCh38:
Chr8:38419553
FGFR1P420A, P331A, P414A, P453A, P333A, P422ACraniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
63.
GRCh37:
Chr8:38273529
GRCh38:
Chr8:38416011
FGFR1Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
64.
GRCh37:
Chr8:38270894
GRCh38:
Chr8:38413376
FGFR1Trigonocephaly 1, Osteoglophonic dysplasia, Craniosynostosis syndrome,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr8:38270884
GRCh38:
Chr8:38413366
FGFR1Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr8:38270189
GRCh38:
Chr8:38412671
FGFR1, LOC102723716Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Craniosynostosis syndrome,
Osteoglophonic dysplasia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr8:38270060
GRCh38:
Chr8:38412542
FGFR1, LOC102723716K691N, K780N, K778NTrigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Craniosynostosis syndrome,
Osteoglophonic dysplasia		Uncertain significance
(Mar 30, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr8:38270022
GRCh38:
Chr8:38412504
FGFR1, LOC102723716P704R, P793R, P791RTrigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Feb 2, 2018)		criteria provided, single submitter
69.
GRCh37:
Chr8:38269700
GRCh38:
Chr8:38412182
FGFR1, LOC102723716Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
70.
GRCh37:
Chr8:38325688
GRCh38:
Chr8:38468170
FGFR1, LOC130000233Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
71.
GRCh37:
Chr8:38314897
GRCh38:
Chr8:38457379
FGFR1P56L, P23LCraniosynostosis syndrome, Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia,
not provided, Trigonocephaly 1		Conflicting interpretations of pathogenicity
(Feb 6, 2023)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr8:38272101
GRCh38:
Chr8:38414583
FGFR1R586P, R675P, R582P, R584P, R665P, R706P, R671P, R673PTrigonocephaly 1, Craniosynostosis syndrome, not provided,
Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia		Conflicting interpretations of pathogenicity
(Oct 27, 2021)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr8:38271555
GRCh38:
Chr8:38414037
FGFR1Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr8:38271216
GRCh38:
Chr8:38413698
FGFR1P707L, P709L, P711L, P798L, P800L, P831L, P790LTrigonocephaly 1, Craniosynostosis syndrome, Pfeiffer syndrome,
Hypogonadotropic hypogonadism 2 with or without anosmia, Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia
Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
75.
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
76.
GRCh37:
Chr8:38270344
GRCh38:
Chr8:38412826
FGFR1, LOC102723716Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr8:38270327
GRCh38:
Chr8:38412809
FGFR1, LOC102723716Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr8:38270155
GRCh38:
Chr8:38412637
FGFR1, LOC102723716Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr8:38269997
GRCh38:
Chr8:38412479
FGFR1, LOC102723716Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
80.
GRCh37:
Chr8:38269323
GRCh38:
Chr8:38411805
FGFR1, LOC102723716Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr8:38268738
GRCh38:
Chr8:38411220
FGFR1, LOC102723716Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr8:38326151
GRCh38:
Chr8:38468633
FGFR1Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr8:38326127
GRCh38:
Chr8:38468609
FGFR1Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr8:38325876
GRCh38:
Chr8:38468358
FGFR1Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr8:38325854
GRCh38:
Chr8:38468336
FGFR1Trigonocephaly 1, Craniosynostosis syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr8:38271164
GRCh38:
Chr8:38413646
FGFR1Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Trigonocephaly 1,
Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia, Craniosynostosis syndrome
Conflicting interpretations of pathogenicity
(Aug 17, 2021)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr8:38270943
GRCh38:
Chr8:38413425
FGFR1Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia, Craniosynostosis syndrome,
Trigonocephaly 1		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
88.
GRCh37:
Chr8:38270934
GRCh38:
Chr8:38413416
FGFR1Hypogonadotropic hypogonadism 2 with or without anosmia, Craniosynostosis syndrome, Trigonocephaly 1,
Osteoglophonic dysplasia		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr8:38270801
GRCh38:
Chr8:38413283
FGFR1Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
90.
GRCh37:
Chr8:38270755
GRCh38:
Chr8:38413237
FGFR1Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
91.
GRCh37:
Chr8:38270152
GRCh38:
Chr8:38412634
FGFR1, LOC102723716Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Benign
(Jan 13, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr8:38269470
GRCh38:
Chr8:38411952
FGFR1, LOC102723716Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr8:38269435
GRCh38:
Chr8:38411917
FGFR1, LOC102723716Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr8:38269164
GRCh38:
Chr8:38411646
FGFR1, LOC102723716Craniosynostosis syndrome, Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia,
Osteoglophonic dysplasia		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr8:38326259
GRCh38:
Chr8:38468741
FGFR1Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
96.
GRCh37:
Chr8:38326165
GRCh38:
Chr8:38468647
FGFR1Craniosynostosis syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
97.
GRCh37:
Chr8:38268701
GRCh38:
Chr8:38411183
FGFR1, LOC102723716Craniosynostosis syndrome, Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia,
Osteoglophonic dysplasia		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
98.
GRCh37:
Chr8:38325988
GRCh38:
Chr8:38468470
FGFR1Hypogonadotropic hypogonadism 2 with or without anosmia, Craniosynostosis syndrome, not provided,
Trigonocephaly 1, Osteoglophonic dysplasia		Conflicting interpretations of pathogenicity
(Mar 1, 2023)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr8:38325844
GRCh38:
Chr8:38468326
FGFR1Trigonocephaly 1, Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia,
Craniosynostosis syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
100.
GRCh37:
Chr8:38325823
GRCh38:
Chr8:38468305
FGFR1Hypogonadotropic hypogonadism 2 with or without anosmia, Trigonocephaly 1, Osteoglophonic dysplasia,
Craniosynostosis syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
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