| - GRCh37:
- Chr8:38275390
- GRCh38:
- Chr8:38417872
| FGFR1 | K424T, K426T, K428T, K507T, K513T, K515T, K517T, K548T | Hartsfield-Bixler-Demyer syndrome | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38272352
- GRCh38:
- Chr8:38414834
| FGFR1 | D548G, D550G, D552G, D631G, D637G, D639G, D641G, D672G | Hartsfield-Bixler-Demyer syndrome, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
| Conflicting interpretations of pathogenicity
(Sep 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:38314957
- GRCh38:
- Chr8:38457439
| FGFR1 | S36N, S3N | not provided, Pfeiffer 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 | Uncertain significance
(Apr 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38275906
- GRCh38:
- Chr8:38418388
| FGFR1 | | Pfeiffer 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 |
| - GRCh37:
- Chr8:38271560
- GRCh38:
- Chr8:38414042
| FGFR1 | | Pfeiffer 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 |
| - GRCh37:
- Chr8:38271457
- GRCh38:
- Chr8:38413939
| FGFR1 | | Pfeiffer 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 |
| - GRCh37:
- Chr8:38285420
- GRCh38:
- Chr8:38427902
| FGFR1 | | Pfeiffer 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 |
| - GRCh37:
- Chr8:38271798
- GRCh38:
- Chr8:38414280
| FGFR1 | | Osteoglophonic 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 |
| - GRCh37:
- Chr8:38275868
- GRCh38:
- Chr8:38418350
| FGFR1 | | Osteoglophonic 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
(Feb 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38272163
- GRCh38:
- Chr8:38414645
| FGFR1 | | Pfeiffer 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 |
| - GRCh37:
- Chr8:38287480
- GRCh38:
- Chr8:38429962
| FGFR1 | | Osteoglophonic 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 |
| - GRCh37:
- Chr8:38271651
- GRCh38:
- Chr8:38414133
| FGFR1 | | Osteoglophonic 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 |
| - GRCh37:
- Chr8:38277149
- GRCh38:
- Chr8:38419631
| FGFR1 | V427I, V307I, V388I, V396I, V305I, V394I | Hartsfield-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 |
| - GRCh37:
- Chr8:38287212
- GRCh38:
- Chr8:38429694
| FGFR1 | V108I, V149I, V116I | Hartsfield-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 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38285931
- GRCh38:
- Chr8:38428413
| FGFR1 | D119E, D160E, D38E, D127E | Hypogonadotropic 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 |
| - GRCh37:
- Chr8:38285494
- GRCh38:
- Chr8:38427976
| FGFR1 | R181H, R220H, R98H, R100H, R187H, R189H | Hartsfield-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 |
| - GRCh37:
- Chr8:38277221
- GRCh38:
- Chr8:38419703
| FGFR1 | P372S, P281S, P283S, P364S, P370S, P403S | Hartsfield-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 |
| - GRCh37:
- Chr8:38287385
- GRCh38:
- Chr8:38429867
| FGFR1 | R58Q, R50Q, R91Q | Hartsfield-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 |
| - GRCh37:
- Chr8:38271461
- GRCh38:
- Chr8:38413943
| FGFR1 | R663H, R746H, R665H, R756H, R752H, R787H, R667H, R754H | Hartsfield-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 |
| - GRCh37:
- Chr8:38314945
- GRCh38:
- Chr8:38457427
| FGFR1 | L7R, L40R | Hartsfield-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 |
| - GRCh37:
- Chr8:38271528
- GRCh38:
- Chr8:38414010
| FGFR1 | R643W, R730W, R724W, R734W, R641W, R645W, R732W, R765W | Hartsfield-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 |
| - GRCh37:
- Chr8:38271477
- GRCh38:
- Chr8:38413959
| FGFR1 | V658M, V662M, V741M, V749M, V782M, V660M, V747M, V751M | Hartsfield-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 |
| - GRCh37:
- Chr8:38271244-38271245
- GRCh38:
- Chr8:38413726-38413727
| FGFR1 | E782fs, E823fs, E699fs, E703fs, E790fs, E792fs, E701fs | Hypogonadotropic 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 |
| - GRCh37:
- Chr8:38273531
- GRCh38:
- Chr8:38416013
| FGFR1 | E478K, E480K, E482K, E561K, E567K, E569K, E571K, E602K | Hartsfield-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 |
| - GRCh37:
- Chr8:38285921
- GRCh38:
- Chr8:38428403
| FGFR1 | D123H, D131H, D164H, D42H | Hartsfield-Bixler-Demyer syndrome | Uncertain significance
(Mar 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38272081
- GRCh38:
- Chr8:38414563
| FGFR1 | D589N, D591N, D593N, D672N, D678N, D680N, D682N, D713N | Hartsfield-Bixler-Demyer syndrome | Likely pathogenic
(Feb 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38271292
- GRCh38:
- Chr8:38413774
| FGFR1 | Q682E, Q684E, Q686E, Q765E, Q773E, Q775E, Q806E | not 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 |
| - GRCh37:
- Chr8:38275843
- GRCh38:
- Chr8:38418325
| FGFR1 | R352W, R354W, R356W, R435W, R441W, R443W, R445W, R476W | not 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 |
| - GRCh37:
- Chr8:38285870
- GRCh38:
- Chr8:38428352
| FGFR1 | P148S, P181S, P59S, R140C, R148C, R59C | not 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 |
| - GRCh37:
- Chr8:38271189
- GRCh38:
- Chr8:38413671
| FGFR1 | R716Q, R718Q, R720Q, R799Q, R807Q, R809Q, R840Q | not 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 |
| - GRCh37:
- Chr8:38271187
- GRCh38:
- Chr8:38413669
| FGFR1 | H717Y, H719Y, H721Y, H800Y, H808Y, H810Y, H841Y | not 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 |
| - GRCh37:
- Chr8:38273515
- GRCh38:
- Chr8:38415997
| FGFR1 | R483Q, R485Q, R487Q, R566Q, R572Q, R574Q, R576Q, R607Q | not 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 |
| - GRCh37:
- Chr8:38272409
- GRCh38:
- Chr8:38414891
| FGFR1 | R529Q, R531Q, R533Q, R612Q, R618Q, R620Q, R622Q, R653Q | not provided, Hartsfield-Bixler-Demyer syndrome | Likely pathogenic
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38277196
- GRCh38:
- Chr8:38419678
| FGFR1 | Y289C, Y291C, Y372C, Y378C, Y380C, Y411C | not 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 |
| - GRCh37:
- Chr8:38272160
- GRCh38:
- Chr8:38414642
| FGFR1 | | 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,
not provided | Likely benign
(Jan 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38271820
- GRCh38:
- Chr8:38414302
| FGFR1 | | not 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 |
| - GRCh37:
- Chr8:38285863
- GRCh38:
- Chr8:38428345
| FGFR1 | | not provided, Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis,
Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Osteoglophonic dysplasia, Trigonocephaly 1, Pfeiffer syndrome,
Hypogonadotropic hypogonadism 2 with or without anosmia | Likely pathogenic
(Jun 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38275768
- GRCh38:
- Chr8:38418250
| FGFR1 | R377C, R379C, R381C, R460C, R466C, R468C, R470C, R501C | Jackson-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 |
| - GRCh37:
- Chr8:38275493
- GRCh38:
- Chr8:38417975
| FGFR1 | P390S, P392S, P394S, P473S, P479S, P481S, P483S, P514S | not 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 |
| - GRCh37:
- Chr8:38275778
- GRCh38:
- Chr8:38418260
| FGFR1 | | Hypogonadotropic 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 |
| - GRCh37:
- Chr8:38285604
- GRCh38:
- Chr8:38428086
| FGFR1 | | Jackson-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 |
| - GRCh37:
- Chr8:38282042
- GRCh38:
- Chr8:38424524
| FGFR1 | | Jackson-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 |
| - GRCh37:
- Chr8:38285476
- GRCh38:
- Chr8:38427958
| FGFR1 | K195R, K104R, K106R, K187R, K193R, K226R | Hypogonadotropic 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 |
| - GRCh37:
- Chr8:38279324
- GRCh38:
- Chr8:38421806
| FGFR1 | V350I, V389I, V269I, V356I, V267I, V358I | Hypogonadotropic 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 |
| - GRCh37:
- Chr8:38271265
- GRCh38:
- Chr8:38413747
| FGFR1 | R691W, R695W, R774W, R782W, R784W, R693W, R815W | Hypogonadotropic 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 |
| - GRCh37:
- Chr8:38287198
- GRCh38:
- Chr8:38429680
| FGFR1 | | Hartsfield-Bixler-Demyer syndrome | Uncertain significance
(Aug 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38285890
- GRCh38:
- Chr8:38428372
| FGFR1 | T133R, T141R, T174R, T52R | 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,
Hypogonadotropic hypogonadism 2 with or without anosmia | Uncertain significance
(May 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38275445
- GRCh38:
- Chr8:38417927
| FGFR1 | G406R, G408R, G410R, G489R, G495R, G497R, G499R, G530R | Hypogonadotropic 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 |
| - GRCh37:
- Chr8:38287327
- GRCh38:
- Chr8:38429809
| FGFR1 | N110K, N69K, N77K | Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome,
Osteoglophonic dysplasia, Hartsfield-Bixler-Demyer syndrome, Trigonocephaly 1,
Jackson-Weiss syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Encephalocraniocutaneous lipomatosis,
not provided, Hypogonadotropic hypogonadism 2 with or without anosmia ...see more | Uncertain significance
(May 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38287226
- GRCh38:
- Chr8:38429708
| FGFR1 | T144I, T103I, T111I | Pfeiffer 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 |
| - GRCh37:
- Chr8:38275834
- GRCh38:
- Chr8:38418316
| FGFR1 | R448W, R355W, R444W, R357W, R479W, R359W, R438W, R446W | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Hartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia, Encephalocraniocutaneous lipomatosis
| Uncertain significance
(May 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38271034
- GRCh38:
- Chr8:38413516
| FGFR1 | | Craniosynostosis 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 |
| - GRCh37:
- Chr8:38274814
- GRCh38:
- Chr8:38417296
| FGFR1 | | Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Osteoglophonic dysplasia, Hartsfield-Bixler-Demyer syndrome, Trigonocephaly 1,
Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia
| Likely benign
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38285914-38285916
- GRCh38:
- Chr8:38428396-38428398
| FGFR1 | D166del, D133del, D125del, D44del | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hartsfield-Bixler-Demyer syndrome, Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome
| Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38271490
- GRCh38:
- Chr8:38413972
| FGFR1 | | Hypogonadotropic 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
| Likely benign
(Dec 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38277150
- GRCh38:
- Chr8:38419632
| FGFR1 | | Hypogonadotropic 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
| Likely benign
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38271191
- GRCh38:
- Chr8:38413673
| FGFR1 | | Hypogonadotropic 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
| Benign/Likely benign
(Sep 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38285432
- GRCh38:
- Chr8:38427914
| FGFR1 | | Hypogonadotropic 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
| Likely benign
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38271317
- GRCh38:
- Chr8:38413799
| FGFR1 | | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Trigonocephaly 1, Osteoglophonic dysplasia,
Hartsfield-Bixler-Demyer syndrome, Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome,
not provided | Likely benign
(Dec 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38287269
- GRCh38:
- Chr8:38429751
| FGFR1 | G97C, G130C, G89C | Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Hartsfield-Bixler-Demyer syndrome,
Trigonocephaly 1, Pfeiffer syndrome, Osteoglophonic dysplasia,
Encephalocraniocutaneous lipomatosis | Uncertain significance
(Jun 28, 2012) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38285863
- GRCh38:
- Chr8:38428345
| FGFR1 | | Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Trigonocephaly 1,
Hartsfield-Bixler-Demyer syndrome, Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome,
Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Osteoglophonic dysplasia
| Likely pathogenic
(Aug 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38272393
- GRCh38:
- Chr8:38414875
| FGFR1 | R538S, R627S, R534S, R623S, R658S, R625S, R536S, R617S | Congenital cerebellar hypoplasia, Hartsfield-Bixler-Demyer syndrome, Cerebellar vermis hypoplasia
| Pathogenic/Likely pathogenic
(Feb 18, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr8:38318617-38318618
- GRCh38:
- Chr8:38461099-38461100
| FGFR1 | A3fs | not specified, Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome,
Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Osteoglophonic dysplasia,
Trigonocephaly 1, Encephalocraniocutaneous lipomatosis | Uncertain significance
(Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38272129
- GRCh38:
- Chr8:38414611
| FGFR1 | W577R, W666R, W656R, W664R, W575R, W662R, W697R, W573R | Hartsfield-Bixler-Demyer syndrome | Pathogenic
(Mar 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38271750
- GRCh38:
- Chr8:38414232
| FGFR1 | | not provided, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Hartsfield-Bixler-Demyer syndrome, Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Osteoglophonic dysplasia | Likely benign
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38287254
- GRCh38:
- Chr8:38429736
| FGFR1 | V102I, V135I, V94I | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome,
not provided, Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia,
Trigonocephaly 1, Craniosynostosis syndrome | Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38285606
- GRCh38:
- Chr8:38428088
| FGFR1 | A152T, A150T, A61T, A183T, A63T, A144T | Hartsfield-Bixler-Demyer syndrome | Benign
(Feb 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38272405
- GRCh38:
- Chr8:38414887
| FGFR1 | D623E, D613E, D534E, D621E, D619E, D530E, D532E, D654E | Hartsfield-Bixler-Demyer syndrome | Pathogenic
(Mar 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38272353
- GRCh38:
- Chr8:38414835
| FGFR1 | D641N, D548N, D637N, D672N, D631N, D639N, D550N, D552N | Hartsfield-Bixler-Demyer syndrome | Pathogenic
(Mar 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38287344
- GRCh38:
- Chr8:38429826
| FGFR1 | Q72*, Q105*, Q64* | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Pfeiffer syndrome,
Encephalocraniocutaneous lipomatosis, Hartsfield-Bixler-Demyer syndrome, Trigonocephaly 1,
not provided | Pathogenic/Likely pathogenic
(Oct 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38274883
- GRCh38:
- Chr8:38417365
| FGFR1 | M535K, M525K, M531K, M533K, M566K, M442K, M444K, M446K | Hartsfield-Bixler-Demyer syndrome | Pathogenic
(Mar 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38272386
- GRCh38:
- Chr8:38414868
| FGFR1 | | Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Trigonocephaly 1,
Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Encephalocraniocutaneous lipomatosis,
not provided | Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38274881-38274883
- GRCh38:
- Chr8:38417363-38417365
| FGFR1 | M535del, M442del, M446del, M444del, M531del, M533del, M525del, M566del | not provided, Hartsfield-Bixler-Demyer syndrome | Pathogenic/Likely pathogenic
(Mar 9, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38275752
- GRCh38:
- Chr8:38418234
| FGFR1 | R475Q, R471Q, R382Q, R384Q, R465Q, R506Q, R386Q, R473Q | Osteoglophonic dysplasia, Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome,
Trigonocephaly 1, not provided | Uncertain significance
(May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38275420
- GRCh38:
- Chr8:38417902
| FGFR1 | R507H, R497H, R503H, R418H, R538H, R414H, R416H, R505H | Osteoglophonic dysplasia, Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome,
Trigonocephaly 1, not provided, Hypogonadotropic hypogonadism 2 with or without anosmia,
Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia ...see more | Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38314882
- GRCh38:
- Chr8:38457364
| FGFR1 | P28L, P61L | Osteoglophonic dysplasia, Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome,
Trigonocephaly 1, not provided, Hypogonadotropic hypogonadism 2 with or without anosmia,
Pfeiffer syndrome | Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38287430
- GRCh38:
- Chr8:38429912
| FGFR1 | F43C, F35C, F76C | Osteoglophonic dysplasia, Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome,
Trigonocephaly 1, not provided, Hypogonadotropic hypogonadism 2 with or without anosmia,
Pfeiffer syndrome | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38279377
- GRCh38:
- Chr8:38421859
| FGFR1 | T340M, T251M, T338M, T371M, T249M, T332M | not provided, Hartsfield-Bixler-Demyer syndrome | Likely pathogenic
(Jul 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38271284
- GRCh38:
- Chr8:38413766
| FGFR1 | | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome,
Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia, Osteoglophonic dysplasia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Trigonocephaly 1,
not provided | Likely benign
(Aug 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38285966
- GRCh38:
- Chr8:38428448
| FGFR1 | | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Hartsfield-Bixler-Demyer syndrome, Pfeiffer syndrome,
Encephalocraniocutaneous lipomatosis, Osteoglophonic dysplasia, Trigonocephaly 1,
not provided, Osteoglophonic dysplasiaHypogonadotropic hypogonadism 2 with or without anosmia,
Trigonocephaly 1, Craniosynostosis syndrome, ...see more | Benign/Likely benign
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38285460
- GRCh38:
- Chr8:38427942
| FGFR1 | | Craniosynostosis syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, not provided,
Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Trigonocephaly 1,
Hartsfield-Bixler-Demyer syndrome, Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndromeOsteoglophonic dysplasia,
Trigonocephaly 1, Osteoglophonic dysplasia, ...see more | Benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38271466
- GRCh38:
- Chr8:38413948
| FGFR1 | | Craniosynostosis syndrome, not provided, Hypogonadotropic hypogonadism 2 with or without anosmia,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome,
Hartsfield-Bixler-Demyer syndrome, Encephalocraniocutaneous lipomatosis, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndromeOsteoglophonic dysplasia,
Trigonocephaly 1, Osteoglophonic dysplasia, ...see more | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38271150
- GRCh38:
- Chr8:38413632
| FGFR1 | R822H, R731H, R733H, R812H, R729H, R820H, R853H | Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Hartsfield-Bixler-Demyer syndrome,
Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis, Osteoglophonic dysplasia,
Trigonocephaly 1, Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia,
Trigonocephaly 1, Craniosynostosis syndromenot provided,
...see more | Uncertain significance
(Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38275486
- GRCh38:
- Chr8:38417968
| FGFR1 | G485V, G392V, G481V, G396V, G475V, G394V, G483V, G516V | Hartsfield-Bixler-Demyer syndrome | Likely pathogenic
(Apr 13, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr8:38272390
- GRCh38:
- Chr8:38414872
| FGFR1 | N539K, N624K, N537K, N618K, N626K, N535K, N659K | Hartsfield-Bixler-Demyer syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr8:38272394
- GRCh38:
- Chr8:38414876
| FGFR1 | R538T, R617T, R623T, R625T, R658T, R534T, R536T | Hartsfield-Bixler-Demyer syndrome | Conflicting interpretations of pathogenicity
(Mar 9, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:38275472
- GRCh38:
- Chr8:38417954
| FGFR1 | G397R, G399R, G401R, G521R, G480R, G486R, G488R | Hartsfield-Bixler-Demyer syndrome | Likely pathogenic
(Apr 13, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr8:38285488
- GRCh38:
- Chr8:38427970
| FGFR1 | L191S, L183S, L100S, L189S, L222S, L102S | Hartsfield-Bixler-Demyer syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr8:38287222
- GRCh38:
- Chr8:38429704
| FGFR1 | | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, not specified,
not provided, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Osteoglophonic dysplasia, Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis,
Hartsfield-Bixler-Demyer syndrome, Trigonocephaly 1 ...see more | Benign/Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38282142
- GRCh38:
- Chr8:38424624
| FGFR1 | E274G, E183G, E272G, E305G, E266G, E185G | Hypogonadotropic hypogonadism 2 with or without anosmia, Delayed puberty, Pfeiffer syndrome,
Encephalocraniocutaneous lipomatosis, Hartsfield-Bixler-Demyer syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Trigonocephaly 1,
Hypogonadotropic hypogonadism 7 with or without anosmia | Conflicting interpretations of pathogenicity
(May 4, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:38275480
- GRCh38:
- Chr8:38417962
| FGFR1 | G487D, G394D, G477D, G483D, G396D, G398D, G485D, G518D | Hartsfield-Bixler-Demyer syndrome | Pathogenic
(Mar 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:38285869
- GRCh38:
- Chr8:38428351
| FGFR1 | R148H, R140H, R59H | Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Encephalocraniocutaneous lipomatosis, Osteoglophonic dysplasia, Trigonocephaly 1,
Hartsfield-Bixler-Demyer syndrome, not provided | Uncertain significance
(Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38272407
- GRCh38:
- Chr8:38414889
| FGFR1 | D530Y, D534Y, D613Y, D621Y, D532Y, D619Y, D654Y | Hartsfield-Bixler-Demyer syndrome | Pathogenic
(Sep 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr8:38285566
- GRCh38:
- Chr8:38428048
| FGFR1 | L165S, L157S, L196S, L76S, L163S, L74S | Hartsfield-Bixler-Demyer syndrome | Pathogenic
(Sep 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr8:38271682
- GRCh38:
- Chr8:38414164
| FGFR1 | C636Y, C715Y, C632Y, C634Y, C723Y, C756Y, C721Y | Hartsfield-Bixler-Demyer syndrome | Pathogenic
(Sep 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr8:38277238
- GRCh38:
- Chr8:38419720
| FGFR1 | P366L, P358L, P275L, P397L, P277L, P364L | not provided, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Hartsfield-Bixler-Demyer syndrome, Encephalocraniocutaneous lipomatosis, Osteoglophonic dysplasia,
Pfeiffer syndrome, Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia,
Hypogonadotropic hypogonadism 7 with or without anosmia | Conflicting interpretations of pathogenicity
(May 4, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:38282064
- GRCh38:
- Chr8:38424546
| FGFR1 | I300T, I331T, I209T, I211T, I292T, I298T | Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Trigonocephaly 1,
Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis, Osteoglophonic dysplasia,
Jackson-Weiss syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Hartsfield-Bixler-Demyer syndrome,
not specified, not provided ...see more | Conflicting interpretations of pathogenicity
(Oct 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:38282208
- GRCh38:
- Chr8:38424690
| FGFR1 | P252R, P244R, P250R, P283R, P161R, P163R | Encephalocraniocutaneous lipomatosis, Hartsfield-Bixler-Demyer syndrome, Pfeiffer syndrome,
Trigonocephaly 1, Jackson-Weiss syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Osteoglophonic dysplasia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
not provided, Jackson-Weiss syndromePfeiffer syndrome,
...see more | Pathogenic
(Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |