| - GRCh37:
- Chr4:1807549
- GRCh38:
- Chr4:1805822
| FGFR3 | P461L, P573L, P574L, P575L | Germ cell tumor of testis, Malignant tumor of urinary bladder, Crouzon syndrome-acanthosis nigricans syndrome,
Muenke syndrome, Epidermal nevus, Cervix cancer,
Thanatophoric dysplasia, type 2, Hypochondroplasia, Colorectal cancer,
Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndromeThanatophoric dysplasia type 1,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Levy-Hollister syndrome, not provided,
...see more | Uncertain significance
(Dec 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1801055
- GRCh38:
- Chr4:1799328
| FGFR3 | P62S | FGFR3-related disoder, Germ cell tumor of testis, Malignant tumor of urinary bladder,
Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Epidermal nevus,
Cervix cancer, Thanatophoric dysplasia, type 2, Hypochondroplasia,
Colorectal cancer, AchondroplasiaCamptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Levy-Hollister syndrome,
...see more | Uncertain significance
(Feb 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807915
- GRCh38:
- Chr4:1806188
| FGFR3 | | not provided, Germ cell tumor of testis, Malignant tumor of urinary bladder,
Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Epidermal nevus,
Cervix cancer, Thanatophoric dysplasia, type 2, Hypochondroplasia,
Colorectal cancer, AchondroplasiaCamptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Levy-Hollister syndrome,
...see more | Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807887
- GRCh38:
- Chr4:1806160
| FGFR3 | K537R, K649R, K650R, K651R | not provided, Germ cell tumor of testis, Malignant tumor of urinary bladder,
Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Epidermal nevus,
Cervix cancer, Thanatophoric dysplasia, type 2, Hypochondroplasia,
Colorectal cancer, AchondroplasiaCamptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Levy-Hollister syndrome,
...see more | Uncertain significance
(Jan 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807658
- GRCh38:
- Chr4:1805931
| FGFR3 | | not provided, Germ cell tumor of testis, Malignant tumor of urinary bladder,
Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Epidermal nevus,
Cervix cancer, Thanatophoric dysplasia, type 2, Hypochondroplasia,
Colorectal cancer, AchondroplasiaCamptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Levy-Hollister syndrome,
Connective tissue disorder, ...see more | Conflicting interpretations of pathogenicity
(Apr 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:1806551
- GRCh38:
- Chr4:1804824
| FGFR3 | V311L, V423L, V424L, V425L | not provided, Germ cell tumor of testis, Malignant tumor of urinary bladder,
Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Epidermal nevus,
Cervix cancer, Thanatophoric dysplasia, type 2, Hypochondroplasia,
Colorectal cancer, AchondroplasiaCamptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Levy-Hollister syndrome,
Inborn genetic diseases, ...see more | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1806164
- GRCh38:
- Chr4:1804437
| FGFR3 | L395I, L397I | Achondroplasia | Likely pathogenic
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1806125
- GRCh38:
- Chr4:1804398
| FGFR3 | G382S, G384S | Achondroplasia | Likely pathogenic | criteria provided, single submitter |
| | FBN1 | | Achondroplasia | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr4:1807298
- GRCh38:
- Chr4:1805571
| FGFR3 | D404G, D516G, D517G, D518G | Achondroplasia, Cervix cancer, Levy-Hollister syndrome,
Muenke syndrome, Hypochondroplasia, Epidermal nevus,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Crouzon syndrome-acanthosis nigricans syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Germ cell tumor of testisMalignant tumor of urinary bladder,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Colorectal cancer, not provided,
...see more | Uncertain significance
(Jan 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1806236
- GRCh38:
- Chr4:1804509
| FGFR3 | L419F, L421F | Achondroplasia, Cervix cancer, Levy-Hollister syndrome,
Muenke syndrome, Hypochondroplasia, Epidermal nevus,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Crouzon syndrome-acanthosis nigricans syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Germ cell tumor of testisMalignant tumor of urinary bladder,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Colorectal cancer, not provided,
...see more | Uncertain significance
(Jul 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807357
- GRCh38:
- Chr4:1805630
| FGFR3 | K424E, K536E, K537E, K538E | Achondroplasia | Uncertain significance
(Nov 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1805477
- GRCh38:
- Chr4:1803750
| FGFR3 | T330I | not provided, Achondroplasia | Uncertain significance
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:48812873
- GRCh38:
- Chr15:48520676
| LOC113939944, FBN1 | C377Y | Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Achondroplasia,
Marfan syndrome | Likely pathogenic
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1808981
- GRCh38:
- Chr4:1807254
| FGFR3 | A782V, R807W, R693W, R805W, R806W | Achondroplasia, Cervix cancer, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Levy-Hollister syndrome, Muenke syndrome, Malignant tumor of urinary bladder,
Crouzon syndrome-acanthosis nigricans syndrome, Hypochondroplasia, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Epidermal nevus, Colorectal cancerThanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Germ cell tumor of testis, not provided,
...see more | Uncertain significance
(Oct 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1806615
- GRCh38:
- Chr4:1804888
| FGFR3 | S444F, S446F, S332F, S445F | Inborn genetic diseases | Uncertain significance
(Jan 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1801071
- GRCh38:
- Chr4:1799344
| FGFR3 | G67D | not provided, Achondroplasia, Cervix cancer,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Epidermal nevus, Carcinoma of colon,
Crouzon syndrome-acanthosis nigricans syndrome, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Levy-Hollister syndrome,
Thanatophoric dysplasia type 1, Muenke syndromeThanatophoric dysplasia, type 2,
Malignant tumor of urinary bladder, Hypochondroplasia, Malignant tumor of testis,
...see more | Conflicting interpretations of pathogenicity
(May 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:1808395
- GRCh38:
- Chr4:1806668
| FGFR3 | N718S, N720S, N719S, N606S | Achondroplasia, Hypochondroplasia, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Carcinoma of colon, Malignant tumor of urinary bladder, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Crouzon syndrome-acanthosis nigricans syndrome, Cervix cancer, Levy-Hollister syndrome,
Malignant tumor of testis, Muenke syndromeThanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Epidermal nevus, Inborn genetic diseases,
not provided, ...see more | Uncertain significance
(Jul 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1808017
- GRCh38:
- Chr4:1806290
| FGFR3 | A667S, A665S, A553S, A666S | Achondroplasia, Cervix cancer, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Hypochondroplasia, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Crouzon syndrome-acanthosis nigricans syndrome,
Malignant tumor of urinary bladder, Levy-Hollister syndrome, Epidermal nevus,
Carcinoma of colon, Malignant tumor of testisMuenke syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, not provided,
...see more | Uncertain significance
(Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807977
- GRCh38:
- Chr4:1806250
| FGFR3 | | Achondroplasia, Cervix cancer, Germ cell tumor of testis,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Hypochondroplasia, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Crouzon syndrome-acanthosis nigricans syndrome, Malignant tumor of urinary bladder, Levy-Hollister syndrome,
Epidermal nevus, Colorectal cancerMuenke syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, not provided,
...see more | Benign/Likely benign
(Feb 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807371
- Chr4:1807123
- GRCh38:
- Chr4:1805644
- Chr4:1805396
| FGFR3, FGFR3 | N540K, N542K, N428K, N541K, Q485R, Q487R, Q373R, Q486R | Thanatophoric dysplasia type 1 | Pathogenic
(Jun 1, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr4:1806119
- Chr4:1806111
- GRCh38:
- Chr4:1804392
- Chr4:1804384
| FGFR3, FGFR3 | G380R, G382R, L377R, L379R | Achondroplasia | Pathogenic
(Feb 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr4:1803341
- GRCh38:
- Chr4:1801614
| FGFR3 | | not provided, not specified, Achondroplasia
| Conflicting interpretations of pathogenicity
(Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:1801219
- GRCh38:
- Chr4:1799492
| FGFR3 | | Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Cervix cancer, Levy-Hollister syndrome,
Malignant tumor of urinary bladder, Hypochondroplasia, Germ cell tumor of testis,
Epidermal nevus, Colorectal cancerCrouzon syndrome-acanthosis nigricans syndrome,
Muenke syndrome, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Connective tissue disorder,
not provided, not specified, ...see more | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1806131
- GRCh38:
- Chr4:1804404
| FGFR3 | F384L, F386L | Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Cervix cancer,
Muenke syndrome, Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2,
Hypochondroplasia, Germ cell tumor of testis, Malignant tumor of urinary bladder,
Epidermal nevus, Severe achondroplasia-developmental delay-acanthosis nigricans syndromeColorectal cancer,
Crouzon syndrome-acanthosis nigricans syndrome, Levy-Hollister syndrome, Connective tissue disorder,
not specified, not provided, Hypochondroplasia,
...see more | Benign/Likely benign
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807876
- GRCh38:
- Chr4:1806149
| FGFR3 | | Achondroplasia, Levy-Hollister syndrome, Germ cell tumor of testis,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Cervix cancer, Crouzon syndrome-acanthosis nigricans syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Malignant tumor of urinary bladder, Epidermal nevusColorectal cancer,
Muenke syndrome, Hypochondroplasia, not provided,
...see more | Benign/Likely benign
(Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807890
- GRCh38:
- Chr4:1806163
| FGFR3 | K650T, K652T, K538T, K651T | FGFR3-related disorder, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Epidermal nevus,
Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Levy-Hollister syndrome,
Malignant tumor of urinary bladder, HypochondroplasiaCrouzon syndrome-acanthosis nigricans syndrome,
Muenke syndrome, Malignant tumor of testis, Carcinoma of colon,
not provided, ...see more | Pathogenic
(Jul 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1808988
- GRCh38:
- Chr4:1807261
| FGFR3 | | Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Epidermal nevus, Colorectal cancer,
Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Levy-Hollister syndrome,
Malignant tumor of urinary bladder, HypochondroplasiaCrouzon syndrome-acanthosis nigricans syndrome,
Muenke syndrome, Germ cell tumor of testis, not provided,
...see more | Pathogenic
(Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1801122
- GRCh38:
- Chr4:1799395
| FGFR3 | S84L | Achondroplasia, Hypochondroplasia, Levy-Hollister syndrome,
Crouzon syndrome-acanthosis nigricans syndrome, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Muenke syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
not provided, Achondroplasia ...see more | Pathogenic/Likely pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1803657
- GRCh38:
- Chr4:1801930
| FGFR3 | S279C | not provided, Achondroplasia | Pathogenic/Likely pathogenic
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807370
- GRCh38:
- Chr4:1805643
| FGFR3 | N540S, N542S, N541S, N428S | Inborn genetic diseases, not provided, Hypochondroplasia,
Achondroplasia, Neurodevelopmental delay | Conflicting interpretations of pathogenicity
(Feb 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:1807891
- GRCh38:
- Chr4:1806164
| FGFR3 | K650N, K652N, K651N, K538N | Colorectal cancer, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Levy-Hollister syndrome,
Cervix cancer, Achondroplasia, Thanatophoric dysplasia, type 2,
Muenke syndrome, Germ cell tumor of testis, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Epidermal nevus, Malignant tumor of urinary bladderCrouzon syndrome-acanthosis nigricans syndrome,
Hypochondroplasia, Thanatophoric dysplasia type 1, not provided,
Hypochondroplasia, ...see more | Pathogenic/Likely pathogenic
(Mar 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807890
- GRCh38:
- Chr4:1806163
| FGFR3 | K650M, K652M, K538M, K651M | Colorectal cancer, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Levy-Hollister syndrome,
Cervix cancer, Achondroplasia, Thanatophoric dysplasia, type 2,
Muenke syndrome, Germ cell tumor of testis, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Epidermal nevus, Malignant tumor of urinary bladderCrouzon syndrome-acanthosis nigricans syndrome,
Hypochondroplasia, Thanatophoric dysplasia type 1, not provided,
Hypochondroplasia, ...see more | Pathogenic
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1803571
- GRCh38:
- Chr4:1801844
| FGFR3 | P250R | Seizure, Unilateral renal agenesis, Facial asymmetry,
Craniofacial dysostosis, Infantile axial hypotonia, Coronal craniosynostosis,
Generalized non-motor (absence) seizure, Inborn genetic diseases, FGFR3-related chondrodysplasia,
Colorectal cancer, Camptodactyly-tall stature-scoliosis-hearing loss syndromeLevy-Hollister syndrome,
Cervix cancer, Achondroplasia, Thanatophoric dysplasia, type 2,
Muenke syndrome, Germ cell tumor of testis, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Epidermal nevus, Malignant tumor of urinary bladder, Crouzon syndrome-acanthosis nigricans syndrome,
Hypochondroplasia, Thanatophoric dysplasia type 1, Craniosynostosis syndrome,
not provided, Hypochondroplasia, Muenke syndrome,
Achondroplasia, Abnormality of the nervous system, ...see more | Pathogenic/Likely pathogenic
(Mar 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1803568
- GRCh38:
- Chr4:1801841
| FGFR3 | S249C | Connective tissue disorder, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Levy-Hollister syndrome,
Cervix cancer, Achondroplasia, Carcinoma of colon,
Thanatophoric dysplasia, type 2, Muenke syndrome, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Malignant tumor of testis, Epidermal nevusMalignant tumor of urinary bladder,
Crouzon syndrome-acanthosis nigricans syndrome, Hypochondroplasia, Thanatophoric dysplasia type 1,
not provided, Cervix cancer, Malignant tumor of urinary bladder,
Thanatophoric dysplasia type 1, ...see more | Pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807371
- GRCh38:
- Chr4:1805644
| FGFR3 | N540K, N542K, N541K, N428K | Connective tissue disorder, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Levy-Hollister syndrome,
Cervix cancer, Achondroplasia, Carcinoma of colon,
Thanatophoric dysplasia, type 2, Muenke syndrome, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Malignant tumor of testis, Epidermal nevusMalignant tumor of urinary bladder,
Crouzon syndrome-acanthosis nigricans syndrome, Hypochondroplasia, Thanatophoric dysplasia type 1,
Inborn genetic diseases, not provided, Larsen syndrome,
Hypochondroplasia, Achondroplasia, Short stature,
...see more | Pathogenic/Likely pathogenic
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807371
- GRCh38:
- Chr4:1805644
| FGFR3 | N540K, N542K, N428K, N541K | not provided, Hypochondroplasia, Achondroplasia,
Neurodevelopmental delay | Pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1808987
- GRCh38:
- Chr4:1807260
| FGFR3 | V784E | Achondroplasia, Epidermal nevus, Crouzon syndrome-acanthosis nigricans syndrome,
Muenke syndrome, Levy-Hollister syndrome, Germ cell tumor of testis,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Hypochondroplasia, Malignant tumor of urinary bladder,
Colorectal cancer, Cervix cancerSevere achondroplasia-developmental delay-acanthosis nigricans syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, not provided,
...see more | Pathogenic
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1803564
- GRCh38:
- Chr4:1801837
| FGFR3 | R248C | FGFR3-related disorder, Connective tissue disorder, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Levy-Hollister syndrome, Cervix cancer, Achondroplasia,
Carcinoma of colon, Thanatophoric dysplasia, type 2, Muenke syndrome,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Malignant tumor of testisEpidermal nevus,
Malignant tumor of urinary bladder, Crouzon syndrome-acanthosis nigricans syndrome, Hypochondroplasia,
Thanatophoric dysplasia type 1, FGFR3-related chondrodysplasia, not provided,
Cervix cancer, Thanatophoric dysplasia type 1, Achondroplasia,
Hamartoma, Small for gestational age, Bell-shaped thorax,
Short stature, Short ribs, Narrow chest,
Skeletal dysplasia, Disproportionate short-limb short stature, Lethal short-limbed short stature,
Growth delay, Lower limb undergrowth, Bowed humerus,
Femoral bowing, Upper limb undergrowth, ...see more | Pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1806104
- GRCh38:
- Chr4:1804377
| FGFR3 | G375C, G377C | not provided | Pathogenic
(Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1806119
- GRCh38:
- Chr4:1804392
| FGFR3 | G380R, G382R | not provided, Hypochondroplasia, Achondroplasia
| Pathogenic
(Dec 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1806119
- GRCh38:
- Chr4:1804392
| FGFR3 | G380R, G382R | Connective tissue disorder, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Levy-Hollister syndrome,
Cervix cancer, Achondroplasia, Carcinoma of colon,
Thanatophoric dysplasia, type 2, Muenke syndrome, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Malignant tumor of testis, Epidermal nevusMalignant tumor of urinary bladder,
Crouzon syndrome-acanthosis nigricans syndrome, Hypochondroplasia, Thanatophoric dysplasia type 1,
Inborn genetic diseases, not specified, not provided,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Hypochondroplasia, Achondroplasia,
...see more | Pathogenic
(May 8, 2023) | criteria provided, multiple submitters, no conflicts |