| - 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:
- Chr8:38271292
- 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:
- Chr8:38277196
- 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:
- Chr8:38287392
- GRCh38:
- Chr8:38429874
| FGFR1 | R56W, R89W, R48W | Encephalocraniocutaneous lipomatosis | Uncertain significance
(Jun 3, 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:
- Chr8:38273571
- GRCh38:
- Chr8:38416053
| FGFR1 | L555fs, L464fs, L468fs, L466fs, L547fs, L588fs, L553fs, L557fs | Encephalocraniocutaneous lipomatosis | Pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - 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:
- Chr8:38279473
- GRCh38:
- Chr8:38421955
| FGFR1 | | Encephalocraniocutaneous lipomatosis | Uncertain significance
(Feb 16, 2019) | criteria provided, single submitter |
| - 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:
- Chr8:38273548
- GRCh38:
- Chr8:38416030
| FGFR1 | S472F, S474F, S476F, S555F, S561F, S563F, S565F, S596F | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, not specified,
Encephalocraniocutaneous lipomatosis | Uncertain significance
(Feb 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38274814
- GRCh38:
- Chr8:38417296
| FGFR1 | | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Osteoglophonic dysplasia,
Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Hartsfield-Bixler-Demyer syndrome,
Trigonocephaly 1, Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis
| 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, Osteoglophonic dysplasia,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Hartsfield-Bixler-Demyer syndrome,
Encephalocraniocutaneous lipomatosis, 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, Osteoglophonic dysplasia,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Hartsfield-Bixler-Demyer syndrome,
Encephalocraniocutaneous lipomatosis, 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, Osteoglophonic dysplasia,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Hartsfield-Bixler-Demyer syndrome,
Encephalocraniocutaneous lipomatosis, 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, Osteoglophonic dysplasia,
Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome,
Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome, Encephalocraniocutaneous lipomatosis
| 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:
- Chr8:38318617-38318618
- 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:
- Chr8:38271750
- 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:
- Chr8:38287344
- 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:
- Chr8:38272386
- 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:
- Chr8:38275752
- 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:
- Chr8:38271284
- GRCh38:
- Chr8:38413766
| FGFR1 | | Trigonocephaly 1, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Osteoglophonic dysplasia, Encephalocraniocutaneous lipomatosis,
Hartsfield-Bixler-Demyer syndrome, not provided, Pfeiffer syndrome,
Hypogonadotropic hypogonadism 2 with or without anosmia | Likely benign
(Aug 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:25378647
- GRCh38:
- Chr12:25225713
| KRAS | K117N | not provided | Pathogenic
(May 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:25378561
- GRCh38:
- Chr12:25225627
| KRAS | A146V | RASopathy | Pathogenic
(Jul 25, 2022) | criteria provided, single submitter |
| - 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 | | not provided, Osteoglophonic dysplasia, Trigonocephaly 1,
Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia,
Pfeiffer syndrome, Osteoglophonic dysplasia, Trigonocephaly 1,
Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndromeHartsfield-Bixler-Demyer syndrome,
Encephalocraniocutaneous lipomatosis, Craniosynostosis syndrome, ...see more | Benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38271466
- GRCh38:
- Chr8:38413948
| FGFR1 | | not provided, Osteoglophonic dysplasia, Pfeiffer syndrome,
Hypogonadotropic hypogonadism 2 with or without anosmia, Trigonocephaly 1, Pfeiffer syndrome,
Osteoglophonic dysplasia, Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Hartsfield-Bixler-Demyer syndromeEncephalocraniocutaneous lipomatosis,
Craniosynostosis syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, ...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:
- Chr8:38272308
- GRCh38:
- Chr8:38414790
| FGFR1 | K656E, K652E, K687E, K646E, K563E, K565E, K567E, K654E | Medulloblastoma, Lymphoblastic leukemia, acute, with lymphomatous features, Encephalocraniocutaneous lipomatosis,
Astrocytoma, Pilomyxoid astrocytoma, Glioblastoma,
Hepatocellular carcinoma, Transitional cell carcinoma of the bladder | Conflicting interpretations of pathogenicity
(Jan 14, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr8:38274849
- GRCh38:
- Chr8:38417331
| FGFR1 | N546K, N536K, N542K, N544K, N453K, N457K, N577K, N455K | Rosette-forming glioneuronal tumor, Encephalocraniocutaneous lipomatosis | Pathogenic | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:25398262
- GRCh38:
- Chr12:25245328
| KRAS | L19F | OCULOECTODERMAL SYNDROME, SOMATIC, Angiosarcoma | Pathogenic/Likely pathogenic
(Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr12:25378562
- GRCh38:
- Chr12:25225628
| KRAS | A146T | not provided, RASopathy, Classic Hodgkin lymphoma
| Conflicting interpretations of pathogenicity
(Jan 1, 2023) | criteria provided, conflicting interpretations |
| - 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:
- Chr8:38285869
- GRCh38:
- Chr8:38428351
| FGFR1 | R148H, R140H, R59H | Encephalocraniocutaneous lipomatosis, Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia,
Jackson-Weiss syndrome, Pfeiffer syndrome, Hartsfield-Bixler-Demyer syndrome,
Trigonocephaly 1, not provided | Uncertain significance
(Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - 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 | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis,
Jackson-Weiss syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Trigonocephaly 1,
Osteoglophonic dysplasia, Pfeiffer syndrome, 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 |
| - GRCh37:
- Chr12:25398284
- GRCh38:
- Chr12:25245350
| KRAS | G12D | RASopathy, Linear nevus sebaceous syndrome, not provided
| Pathogenic
(Dec 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:25398281
- GRCh38:
- Chr12:25245347
| KRAS | G13D | Noonan syndrome and Noonan-related syndrome, Inborn genetic diseases, not provided,
Nevus sebaceous, RASopathy, Non-small cell lung carcinoma
| Conflicting interpretations of pathogenicity
(Jul 1, 2022) | criteria provided, conflicting interpretations |