| - GRCh37:
- Chr4:1805658
- GRCh38:
- Chr4:1803931
| FGFR3 | | Achondroplasia, Hypochondroplasia | Pathogenic
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1805465
- GRCh38:
- Chr4:1803738
| FGFR3 | L326W | Hypochondroplasia | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr4:1807549
- GRCh38:
- Chr4:1805822
| FGFR3 | P461L, P573L, P574L, P575L | Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Thanatophoric dysplasia, type 2,
Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Colorectal cancer,
Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1,
Epidermal nevus, Malignant tumor of urinary bladderHypochondroplasia,
Levy-Hollister syndrome, Germ cell tumor of testis, not provided,
...see more | Uncertain significance
(Dec 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807494
- GRCh38:
- Chr4:1805767
| FGFR3 | V443L, V555L, V556L, V557L | Hypochondroplasia, not provided | Conflicting interpretations of pathogenicity
(Sep 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:1801055
- GRCh38:
- Chr4:1799328
| FGFR3 | P62S | FGFR3-related disoder, Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome,
Colorectal cancer, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Epidermal nevusMalignant tumor of urinary bladder,
Hypochondroplasia, Levy-Hollister syndrome, Germ cell tumor of testis,
...see more | Uncertain significance
(Feb 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807915
- GRCh38:
- Chr4:1806188
| FGFR3 | | Epidermal nevus, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Cervix cancer, Levy-Hollister syndrome, Malignant tumor of urinary bladder,
Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndromeHypochondroplasia,
Germ cell tumor of testis, Colorectal cancer, 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 | Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Thanatophoric dysplasia, type 2,
Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Colorectal cancer,
Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1,
Epidermal nevus, Malignant tumor of urinary bladderHypochondroplasia,
Levy-Hollister syndrome, Germ cell tumor of testis, not provided,
...see more | Uncertain significance
(Jan 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807658
- GRCh38:
- Chr4:1805931
| FGFR3 | | Connective tissue disorder, Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome,
Colorectal cancer, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Epidermal nevusMalignant tumor of urinary bladder,
Hypochondroplasia, Levy-Hollister syndrome, Germ cell tumor of testis,
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 | Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Thanatophoric dysplasia, type 2,
Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Colorectal cancer,
Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1,
Epidermal nevus, Malignant tumor of urinary bladderHypochondroplasia,
Levy-Hollister syndrome, Germ cell tumor of testis, Inborn genetic diseases,
not provided, ...see more | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1805531
- GRCh38:
- Chr4:1803804
| FGFR3 | S348C | not provided | Likely pathogenic
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1807298
- GRCh38:
- Chr4:1805571
| FGFR3 | D404G, D516G, D517G, D518G | Achondroplasia, Crouzon syndrome-acanthosis nigricans syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Cervix cancer, Malignant tumor of urinary bladder, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Germ cell tumor of testis, Levy-Hollister syndrome,
Muenke syndrome, HypochondroplasiaEpidermal nevus,
Colorectal cancer, 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 | not provided, Achondroplasia, Crouzon syndrome-acanthosis nigricans syndrome,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Cervix cancer, Malignant tumor of urinary bladder,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Germ cell tumor of testis,
Levy-Hollister syndrome, Muenke syndromeHypochondroplasia,
Epidermal nevus, Colorectal cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
...see more | Uncertain significance
(Jul 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807863
- GRCh38:
- Chr4:1806136
| FGFR3 | D529V, D641V, D642V, D643V | Hypochondroplasia | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1807862-1807863
- GRCh38:
- Chr4:1806135-1806136
| FGFR3 | D529I, D641I, D642I, D643I | Hypochondroplasia | Uncertain significance
(Aug 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1803162
- GRCh38:
- Chr4:1801435
| FGFR3 | V172I | not provided, Hypochondroplasia, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Aug 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:1808981
- GRCh38:
- Chr4:1807254
| FGFR3 | A782V, R807W, R693W, R805W, R806W | Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Cervix cancer,
Colorectal cancer, Crouzon syndrome-acanthosis nigricans syndrome, Levy-Hollister syndrome,
Muenke syndrome, Hypochondroplasia, Germ cell tumor of testis,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Malignant tumor of urinary bladderThanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Epidermal nevus, not provided,
...see more | Uncertain significance
(Oct 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1805540
- GRCh38:
- Chr4:1803813
| FGFR3 | S351F | not provided, Hypochondroplasia | Pathogenic
(Oct 3, 2022) | 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 | Crouzon syndrome-acanthosis nigricans syndrome, Achondroplasia, Cervix cancer,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Malignant tumor of testis, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Thanatophoric dysplasia type 1, Malignant tumor of urinary bladder, Thanatophoric dysplasia, type 2,
Levy-Hollister syndrome, Muenke syndromeHypochondroplasia,
Epidermal nevus, Carcinoma of colon, not provided,
...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, not provided, Thanatophoric dysplasia, type 2,
Malignant tumor of urinary bladder, Epidermal nevus, Carcinoma of colon,
Achondroplasia, Crouzon syndrome-acanthosis nigricans syndrome, Levy-Hollister syndrome,
Thanatophoric dysplasia type 1, HypochondroplasiaMalignant tumor of testis,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Cervix cancer, Muenke syndrome,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, ...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, Levy-Hollister syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Epidermal nevus,
Cervix cancer, Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome,
Malignant tumor of urinary bladder, Severe achondroplasia-developmental delay-acanthosis nigricans syndromeMalignant tumor of testis,
Carcinoma of colon, Hypochondroplasia, 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, Levy-Hollister syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Epidermal nevus,
Germ cell tumor of testis, Cervix cancer, Crouzon syndrome-acanthosis nigricans syndrome,
Muenke syndrome, Malignant tumor of urinary bladderSevere achondroplasia-developmental delay-acanthosis nigricans syndrome,
Colorectal cancer, Hypochondroplasia, 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:
- Chr4:1801219
- GRCh38:
- Chr4:1799492
| FGFR3 | | Connective tissue disorder, Levy-Hollister syndrome, Malignant tumor of urinary bladder,
Epidermal nevus, Colorectal cancer, Achondroplasia,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Muenke syndrome, HypochondroplasiaCrouzon syndrome-acanthosis nigricans syndrome,
Germ cell tumor of testis, Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2,
not provided, not specified, ...see more | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1806629
- GRCh38:
- Chr4:1804902
| FGFR3 | P449S, P451S, P337S, P450S | Connective tissue disorder, not specified, not provided,
Hypochondroplasia | Benign/Likely benign
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1806131
- GRCh38:
- Chr4:1804404
| FGFR3 | F384L, F386L | Achondroplasia, Crouzon syndrome-acanthosis nigricans syndrome, Hypochondroplasia,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Colorectal cancer,
Cervix cancer, Muenke syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Germ cell tumor of testisLevy-Hollister syndrome,
Malignant tumor of urinary bladder, Epidermal nevus, Connective tissue disorder,
not specified, not provided, Hypochondroplasia,
...see more | Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807876
- GRCh38:
- Chr4:1806149
| FGFR3 | | Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Muenke syndrome,
Thanatophoric dysplasia type 1, Germ cell tumor of testis, Thanatophoric dysplasia, type 2,
Epidermal nevus, Cervix cancer, Levy-Hollister syndrome,
Colorectal cancer, Crouzon syndrome-acanthosis nigricans syndromeHypochondroplasia,
Malignant tumor of urinary bladder, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, 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 condition, FGFR3-related disorder, Achondroplasia,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Malignant tumor of urinary bladder, Carcinoma of colon,
Cervix cancer, Hypochondroplasia, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Malignant tumor of testis, Crouzon syndrome-acanthosis nigricans syndromeLevy-Hollister syndrome,
Muenke syndrome, Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2,
Epidermal nevus, not provided, ...see more | Pathogenic
(Aug 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1805512
- GRCh38:
- Chr4:1803785
| FGFR3 | G342C | Hypochondroplasia | Pathogenic
(Aug 23, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr4:1808988
- GRCh38:
- Chr4:1807261
| FGFR3 | | Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Malignant tumor of urinary bladder,
Colorectal cancer, Germ cell tumor of testis, Cervix cancer,
Hypochondroplasia, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Crouzon syndrome-acanthosis nigricans syndrome,
Levy-Hollister syndrome, Muenke syndromeThanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Epidermal nevus, 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:
- Chr4:1803655
- GRCh38:
- Chr4:1801928
| FGFR3 | Y278C | not provided, Short stature | Pathogenic
(Jun 22, 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:
- Chr4:1807889
- GRCh38:
- Chr4:1806162
| FGFR3 | K650Q, K652Q, K651Q, K538Q | not provided, Hypochondroplasia | Pathogenic
(Jun 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807891
- GRCh38:
- Chr4:1806164
| FGFR3 | K650N, K652N, K651N, K538N | Malignant tumor of urinary bladder, Thanatophoric dysplasia, type 2, Achondroplasia,
Germ cell tumor of testis, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Hypochondroplasia,
Levy-Hollister syndrome, Cervix cancer, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Colorectal cancer, Epidermal nevusThanatophoric dysplasia type 1,
Muenke syndrome, Crouzon syndrome-acanthosis nigricans syndrome, not provided,
Hypochondroplasia, ...see more | Pathogenic/Likely pathogenic
(Mar 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807891
- GRCh38:
- Chr4:1806164
| FGFR3 | K650N, K652N, K538N, K651N | Hypochondroplasia | Pathogenic
(Dec 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr4:1807363
- GRCh38:
- Chr4:1805636
| FGFR3 | I538V, I540V, I426V, I539V | not provided, Hypochondroplasia | Conflicting interpretations of pathogenicity
(May 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:1807370
- GRCh38:
- Chr4:1805643
| FGFR3 | N540T, N542T, N428T, N541T | not provided | Pathogenic/Likely pathogenic
(Mar 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807890
- GRCh38:
- Chr4:1806163
| FGFR3 | K650M, K652M, K538M, K651M | Malignant tumor of urinary bladder, Thanatophoric dysplasia, type 2, Achondroplasia,
Germ cell tumor of testis, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Hypochondroplasia,
Levy-Hollister syndrome, Cervix cancer, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Colorectal cancer, Epidermal nevusThanatophoric dysplasia type 1,
Muenke syndrome, Crouzon syndrome-acanthosis nigricans syndrome, 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, FGFR3-related chondrodysplasia, Malignant tumor of urinary bladder,
Thanatophoric dysplasia, type 2, Achondroplasia, Germ cell tumor of testis,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Hypochondroplasia, Levy-Hollister syndrome,
Cervix cancer, Camptodactyly-tall stature-scoliosis-hearing loss syndromeColorectal cancer,
Epidermal nevus, Thanatophoric dysplasia type 1, Muenke syndrome,
Crouzon syndrome-acanthosis nigricans syndrome, Craniofacial dysostosis, Seizure,
Infantile axial hypotonia, Coronal craniosynostosis, Generalized non-motor (absence) seizure,
Unilateral renal agenesis, Facial asymmetry, Craniosynostosis syndrome,
not provided, Muenke syndrome, Hypochondroplasia,
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 | FGFR3-related condition, Connective tissue disorder, Malignant tumor of urinary bladder,
Thanatophoric dysplasia, type 2, Achondroplasia, Carcinoma of colon,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Hypochondroplasia, Levy-Hollister syndrome,
Cervix cancer, Camptodactyly-tall stature-scoliosis-hearing loss syndromeMalignant tumor of testis,
Epidermal nevus, Thanatophoric dysplasia type 1, Muenke syndrome,
Crouzon syndrome-acanthosis nigricans syndrome, 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, Inborn genetic diseases, Malignant tumor of urinary bladder,
Thanatophoric dysplasia, type 2, Achondroplasia, Carcinoma of colon,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Hypochondroplasia, Levy-Hollister syndrome,
Cervix cancer, Camptodactyly-tall stature-scoliosis-hearing loss syndromeMalignant tumor of testis,
Epidermal nevus, Thanatophoric dysplasia type 1, Muenke syndrome,
Crouzon syndrome-acanthosis nigricans syndrome, 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
(Aug 29, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1808987
- GRCh38:
- Chr4:1807260
| FGFR3 | V784E | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome,
Achondroplasia, Colorectal cancer, Epidermal nevus,
Muenke syndrome, Cervix cancer, Germ cell tumor of testis,
Malignant tumor of urinary bladder, Levy-Hollister syndromeCamptodactyly-tall stature-scoliosis-hearing loss syndrome,
Hypochondroplasia, Thanatophoric dysplasia type 1, not provided,
...see more | Pathogenic
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1803564
- GRCh38:
- Chr4:1801837
| FGFR3 | R248C | FGFR3-related condition, FGFR3-related chondrodysplasia, FGFR3-related disorder,
Connective tissue disorder, Malignant tumor of urinary bladder, Thanatophoric dysplasia, type 2,
Achondroplasia, Carcinoma of colon, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Hypochondroplasia, Levy-Hollister syndromeCervix cancer,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Malignant tumor of testis, Epidermal nevus,
Thanatophoric dysplasia type 1, Muenke syndrome, Crouzon syndrome-acanthosis nigricans syndrome,
not provided, Cervix cancer, Thanatophoric dysplasia, type 2,
Achondroplasia, Thanatophoric dysplasia type 1, Upper limb undergrowth,
Short stature, Disproportionate short-limb short stature, Lethal short-limbed short stature,
Lower limb undergrowth, Growth delay, Bowed humerus,
Small for gestational age, Skeletal dysplasia, Bell-shaped thorax,
Femoral bowing, Short ribs, Narrow chest,
Hamartoma, ...see more | Pathogenic
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - 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 | FGFR3-Related Disorders, Connective tissue disorder, Inborn genetic diseases,
Malignant tumor of urinary bladder, Thanatophoric dysplasia, type 2, Achondroplasia,
Carcinoma of colon, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Hypochondroplasia,
Levy-Hollister syndrome, Cervix cancerCamptodactyly-tall stature-scoliosis-hearing loss syndrome,
Malignant tumor of testis, Epidermal nevus, Thanatophoric dysplasia type 1,
Muenke syndrome, Crouzon syndrome-acanthosis nigricans syndrome, not specified,
not provided, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Hypochondroplasia, ...see more | Pathogenic
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |