| - GRCh37:
- Chr4:1807549
- GRCh38:
- Chr4:1805822
| FGFR3 | P461L, P573L, P574L, P575L | Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia, type 2,
Malignant tumor of urinary bladder, Germ cell tumor of testis, Cancer of cervix,
Muenke syndrome, Hypochondroplasia, Crouzon syndrome-acanthosis nigricans syndrome,
Levy-Hollister syndrome, Thanatophoric dysplasia type 1Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Colorectal cancer, Epidermal nevus, 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, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia, type 2, Malignant tumor of urinary bladder, Germ cell tumor of testis,
Cancer of cervix, Muenke syndrome, Hypochondroplasia,
Crouzon syndrome-acanthosis nigricans syndrome, Levy-Hollister syndromeThanatophoric dysplasia type 1,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Colorectal cancer, Epidermal nevus,
...see more | Uncertain significance
(Feb 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807915
- GRCh38:
- Chr4:1806188
| FGFR3 | | Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia, type 2,
Malignant tumor of urinary bladder, Germ cell tumor of testis, Cancer of cervix,
Muenke syndrome, Hypochondroplasia, Crouzon syndrome-acanthosis nigricans syndrome,
Levy-Hollister syndrome, Thanatophoric dysplasia type 1Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Colorectal cancer, Epidermal nevus, not provided,
...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 | Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia, type 2,
Malignant tumor of urinary bladder, Germ cell tumor of testis, Cancer of cervix,
Muenke syndrome, Hypochondroplasia, Crouzon syndrome-acanthosis nigricans syndrome,
Levy-Hollister syndrome, Thanatophoric dysplasia type 1Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Colorectal cancer, Epidermal nevus, not provided,
...see more | Uncertain significance
(Jan 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807658
- GRCh38:
- Chr4:1805931
| FGFR3 | | Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia, type 2,
Malignant tumor of urinary bladder, Germ cell tumor of testis, Cancer of cervix,
Muenke syndrome, Hypochondroplasia, Crouzon syndrome-acanthosis nigricans syndrome,
Levy-Hollister syndrome, Thanatophoric dysplasia type 1Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Colorectal cancer, Epidermal nevus, Connective tissue disorder,
not provided, ...see more | Conflicting interpretations of pathogenicity
(Apr 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:1806551
- GRCh38:
- Chr4:1804824
| FGFR3 | V311L, V423L, V424L, V425L | Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia, type 2,
Malignant tumor of urinary bladder, Germ cell tumor of testis, Cancer of cervix,
Muenke syndrome, Hypochondroplasia, Crouzon syndrome-acanthosis nigricans syndrome,
Levy-Hollister syndrome, Thanatophoric dysplasia type 1Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Colorectal cancer, Epidermal nevus, Inborn genetic diseases,
not provided, ...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:
- Chr4:1807906
- GRCh38:
- Chr4:1806179
| FGFR3 | | Achondroplasia | Uncertain significance
(Nov 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1807298
- GRCh38:
- Chr4:1805571
| FGFR3 | D404G, D516G, D517G, D518G | Achondroplasia, Epidermal nevus, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Cancer of cervix, Crouzon syndrome-acanthosis nigricans syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Germ cell tumor of testis, Colorectal cancer,
Malignant tumor of urinary bladder, Levy-Hollister syndromeMuenke syndrome,
Hypochondroplasia, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, not provided,
...see more | Uncertain significance
(Jan 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1806236
- GRCh38:
- Chr4:1804509
| FGFR3 | L419F, L421F | Crouzon syndrome-acanthosis nigricans syndrome, Hypochondroplasia, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Colorectal cancer, Muenke syndrome, Malignant tumor of urinary bladder,
Cancer of cervix, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Germ cell tumor of testis, Levy-Hollister syndromeThanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Epidermal nevus, 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 | Hypochondroplasia, Epidermal nevus, Achondroplasia,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Cancer of cervix, Levy-Hollister syndrome, Muenke syndrome,
Malignant tumor of urinary bladder, Severe achondroplasia-developmental delay-acanthosis nigricans syndromeCrouzon syndrome-acanthosis nigricans syndrome,
Germ cell tumor of testis, Colorectal cancer, 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, Cancer of cervix,
Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Epidermal nevus,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Levy-Hollister syndrome, Malignant tumor of urinary bladder,
Hypochondroplasia, Thanatophoric dysplasia type 1Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Malignant tumor of testis, Thanatophoric dysplasia, type 2, Carcinoma of colon,
...see more | Conflicting interpretations of pathogenicity
(May 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:1808395
- GRCh38:
- Chr4:1806668
| FGFR3 | N718S, N720S, N719S, N606S | Inborn genetic diseases, Crouzon syndrome-acanthosis nigricans syndrome, Malignant tumor of urinary bladder,
Carcinoma of colon, Cancer of cervix, Levy-Hollister syndrome,
Achondroplasia, Epidermal nevus, Malignant tumor of testis,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndromeMuenke syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Hypochondroplasia,
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, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Cancer of cervix,
Hypochondroplasia, Epidermal nevus, Carcinoma of colon,
Crouzon syndrome-acanthosis nigricans syndrome, Levy-Hollister syndrome, Muenke syndrome,
Malignant tumor of urinary bladder, Severe achondroplasia-developmental delay-acanthosis nigricans syndromeMalignant tumor of testis,
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, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Cancer of cervix,
Hypochondroplasia, Epidermal nevus, Germ cell tumor of testis,
Crouzon syndrome-acanthosis nigricans syndrome, Levy-Hollister syndrome, Muenke syndrome,
Malignant tumor of urinary bladder, Severe achondroplasia-developmental delay-acanthosis nigricans syndromeColorectal cancer,
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:
- Chr4:1801143
- GRCh38:
- Chr4:1799416
| FGFR3 | P91L | not specified, not provided, Achondroplasia
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:1803341
- GRCh38:
- Chr4:1801614
| FGFR3 | | Achondroplasia, not specified, not provided
| Conflicting interpretations of pathogenicity
(Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:1801219
- GRCh38:
- Chr4:1799492
| FGFR3 | | Levy-Hollister syndrome, Malignant tumor of urinary bladder, Epidermal nevus,
Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Crouzon syndrome-acanthosis nigricans syndrome, Germ cell tumor of testis, Muenke syndrome,
Colorectal cancer, Cancer of cervixThanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Hypochondroplasia, not provided,
not specified, Connective tissue disorder, ...see more | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1806131
- GRCh38:
- Chr4:1804404
| FGFR3 | F384L, F386L | Crouzon syndrome-acanthosis nigricans syndrome, Levy-Hollister syndrome, Hypochondroplasia,
Achondroplasia, Cancer of cervix, Muenke syndrome,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Colorectal cancer, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2Epidermal nevus,
Germ cell tumor of testis, Malignant tumor of urinary bladder, 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 | | Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Levy-Hollister syndrome, Hypochondroplasia,
Achondroplasia, Cancer of cervix, Muenke syndrome,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Colorectal cancer, Crouzon syndrome-acanthosis nigricans syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2Epidermal nevus,
Germ cell tumor of testis, Malignant tumor of urinary bladder, 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 | not provided, Achondroplasia, Epidermal nevus,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Cancer of cervix, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Malignant tumor of urinary bladder, Crouzon syndrome-acanthosis nigricans syndrome,
Levy-Hollister syndrome, Muenke syndromeHypochondroplasia,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Malignant tumor of testis, Carcinoma of colon,
FGFR3-related disorder, ...see more | Pathogenic
(Oct 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1808988
- GRCh38:
- Chr4:1807261
| FGFR3 | | not provided, Achondroplasia, Epidermal nevus,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Cancer of cervix, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Malignant tumor of urinary bladder, Crouzon syndrome-acanthosis nigricans syndrome,
Levy-Hollister syndrome, Muenke syndromeColorectal cancer,
Germ cell tumor of testis, Hypochondroplasia, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
...see more | Pathogenic
(Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1801122
- GRCh38:
- Chr4:1799395
| FGFR3 | S84L | Hypochondroplasia, Thanatophoric dysplasia, type 2, Thanatophoric dysplasia type 1,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Crouzon syndrome-acanthosis nigricans syndrome,
Achondroplasia, Muenke syndrome, Levy-Hollister 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 | Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome, Germ cell tumor of testis,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Epidermal nevus, Malignant tumor of urinary bladder,
Muenke syndrome, Cancer of cervixColorectal cancer,
Levy-Hollister syndrome, Hypochondroplasia, 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 | Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome, Germ cell tumor of testis,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Epidermal nevus, Malignant tumor of urinary bladder,
Muenke syndrome, Cancer of cervixColorectal cancer,
Levy-Hollister syndrome, Hypochondroplasia, not provided,
Hypochondroplasia, ...see more | Pathogenic
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1803571
- GRCh38:
- Chr4:1801844
| FGFR3 | P250R | Inborn genetic diseases, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome,
Germ cell tumor of testis, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Epidermal nevus,
Malignant tumor of urinary bladder, Muenke syndromeCancer of cervix,
Colorectal cancer, Levy-Hollister syndrome, Hypochondroplasia,
FGFR3-related chondrodysplasia, Crouzon syndrome, Coronal craniosynostosis,
Generalized non-motor (absence) seizure, Seizure, Infantile axial hypotonia,
Unilateral renal agenesis, Facial asymmetry, Craniosynostosis syndrome,
not provided, Hypochondroplasia, Muenke syndrome,
Achondroplasia, Abnormality of the nervous system, ...see more | Pathogenic/Likely pathogenic
(Dec 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1803568
- GRCh38:
- Chr4:1801841
| FGFR3 | S249C | Connective tissue disorder, Achondroplasia, Carcinoma of colon,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2,
Crouzon syndrome-acanthosis nigricans syndrome, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Malignant tumor of testis,
Epidermal nevus, Malignant tumor of urinary bladderMuenke syndrome,
Cancer of cervix, Levy-Hollister syndrome, Hypochondroplasia,
not provided, Cancer of cervix, 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, Achondroplasia, Carcinoma of colon,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2,
Crouzon syndrome-acanthosis nigricans syndrome, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Malignant tumor of testis,
Epidermal nevus, Malignant tumor of urinary bladderMuenke syndrome,
Cancer of cervix, Levy-Hollister syndrome, Hypochondroplasia,
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, Colorectal cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Hypochondroplasia, Malignant tumor of urinary bladder, Crouzon syndrome-acanthosis nigricans syndrome,
Germ cell tumor of testis, Epidermal nevus, Muenke syndrome,
Cancer of cervix, Thanatophoric dysplasia type 1Thanatophoric dysplasia, type 2,
Levy-Hollister syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, 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, FGFR3-related chondrodysplasia,
Achondroplasia, Carcinoma of colon, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Malignant tumor of testisEpidermal nevus,
Malignant tumor of urinary bladder, Muenke syndrome, Cancer of cervix,
Levy-Hollister syndrome, Hypochondroplasia, not provided,
Cancer of cervix, Thanatophoric dysplasia type 1, Achondroplasia,
Hamartoma, Skeletal dysplasia, Growth delay,
Bowed humerus, Bell-shaped thorax, Small for gestational age,
Short stature, Disproportionate short-limb short stature, Lethal short-limbed short stature,
Femoral bowing, Short ribs, Narrow chest,
Lower limb undergrowth, 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, Inborn genetic diseases, Achondroplasia,
Carcinoma of colon, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Malignant tumor of testis, Epidermal nevusMalignant tumor of urinary bladder,
Muenke syndrome, Cancer of cervix, Levy-Hollister syndrome,
Hypochondroplasia, not specified, not provided,
Thanatophoric dysplasia type 1, Hypochondroplasia, Achondroplasia,
...see more | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |