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Items: 12

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr4:1806191
GRCh38:
Chr4:1804464
FGFR3K404E, K406ESevere achondroplasia-developmental delay-acanthosis nigricans syndrome, not providedUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflictsVCV001172560
2.
GRCh37:
Chr4:1801071
GRCh38:
Chr4:1799344
FGFR3G67DAchondroplasia, Cancer of cervix, Crouzon syndrome-acanthosis nigricans syndrome,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Levy-Hollister syndrome, Epidermal nevus,
Malignant tumor of urinary bladder, Carcinoma of colon, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, HypochondroplasiaMuenke syndrome,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Malignant tumor of testis, not provided,
...see more
Conflicting interpretations of pathogenicity
(Aug 21, 2019)
criteria provided, conflicting interpretationsVCV000546226
3.
GRCh37:
Chr4:1808395
GRCh38:
Chr4:1806668
FGFR3N718S, N720S, N719S, N606Snot provided, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Malignant tumor of urinary bladder,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Malignant tumor of testis, Carcinoma of colon,
Cancer of cervix, Levy-Hollister syndromeHypochondroplasia,
Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Epidermal nevus,
Inborn genetic diseases, ...see more
Uncertain significance
(Jan 21, 2021)
criteria provided, multiple submitters, no conflictsVCV000521225
4.
GRCh37:
Chr4:1808017
GRCh38:
Chr4:1806290
FGFR3A667S, A665S, A553S, A666Snot provided, Cancer of cervix, Crouzon syndrome-acanthosis nigricans syndrome,
Malignant tumor of urinary bladder, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Levy-Hollister syndrome, Hypochondroplasia, Epidermal nevus,
Muenke syndrome, Severe achondroplasia-developmental delay-acanthosis nigricans syndromeMalignant tumor of testis,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Carcinoma of colon,
...see more
Uncertain significance
(Aug 28, 2021)
criteria provided, multiple submitters, no conflictsVCV000465350
5.
GRCh37:
Chr4:1806119
Chr4:1806111
GRCh38:
Chr4:1804392
Chr4:1804384
FGFR3, FGFR3G380R, G382R, L377R, L379RAchondroplasiaPathogenic
(Feb 1, 2006)
no assertion criteria providedVCV000441276
6.
GRCh37:
Chr4:1807890
GRCh38:
Chr4:1806163
FGFR3K650T, K652T, K538T, K651TFGFR3-related disorder, Hypochondroplasia, Achondroplasia,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Cancer of cervix, Crouzon syndrome-acanthosis nigricans syndrome,
Levy-Hollister syndrome, Muenke syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Malignant tumor of urinary bladderHypochondroplasia,
Epidermal nevus, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Malignant tumor of testis,
Carcinoma of colon, not provided, ...see more
Pathogenic
(Aug 24, 2021)
criteria provided, multiple submitters, no conflictsVCV000065855
7.
GRCh37:
Chr4:1801122
GRCh38:
Chr4:1799395
FGFR3S84LAchondroplasia, Muenke syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Hypochondroplasia, Crouzon syndrome-acanthosis nigricans syndrome,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Levy-Hollister syndrome,
Hypochondroplasia, Achondroplasia ...see more
Pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflictsVCV000016358
8.
GRCh37:
Chr4:1803571
GRCh38:
Chr4:1801844
FGFR3P250RInborn genetic diseases, Crouzon syndrome, Facial asymmetry,
Infantile axial hypotonia, Coronal craniosynostosis, Generalized non-motor (absence) seizure,
Unilateral renal agenesis, Seizure, Epidermal nevus,
Hypochondroplasia, Cancer of cervixCamptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Muenke syndrome,
Crouzon syndrome-acanthosis nigricans syndrome, Achondroplasia, Carcinoma of colon,
Malignant tumor of testis, Malignant tumor of urinary bladder, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Levy-Hollister syndrome, not provided, Craniosynostosis syndrome,
not specified, Muenke syndrome, Hypochondroplasia,
Achondroplasia, Saethre-Chotzen syndrome, Abnormality of the nervous system,
...see more
Pathogenic/Likely pathogenic
(Apr 1, 2022)
criteria provided, multiple submitters, no conflictsVCV000016340
9.
GRCh37:
Chr4:1803568
GRCh38:
Chr4:1801841
FGFR3S249CUrinary bladder carcinoma, Epidermal nevus, Hypochondroplasia,
Cancer of cervix, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Muenke syndrome, Crouzon syndrome-acanthosis nigricans syndrome,
Achondroplasia, Carcinoma of colonMalignant tumor of testis,
Malignant tumor of urinary bladder, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Levy-Hollister syndrome,
Carcinoma, Papillary renal cell carcinoma, sporadic, not provided,
Cancer of cervix, Seborrheic keratosis, Malignant tumor of urinary bladder,
Thanatophoric dysplasia type 1, Squamous cell lung carcinoma, Squamous cell carcinoma of the head and neck,
Transitional cell carcinoma of the bladder, ...see more
Pathogenic
(Aug 24, 2021)
criteria provided, multiple submitters, no conflictsVCV000016339
10.
GRCh37:
Chr4:1807371
GRCh38:
Chr4:1805644
FGFR3N540K, N542K, N541K, N428KInborn genetic diseases, Epidermal nevus, Hypochondroplasia,
Cancer of cervix, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Muenke syndrome, Crouzon syndrome-acanthosis nigricans syndrome,
Achondroplasia, Carcinoma of colonMalignant tumor of testis,
Malignant tumor of urinary bladder, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Levy-Hollister syndrome,
not provided, Hypochondroplasia, Larsen syndrome,
Achondroplasia, Short stature, ...see more
Pathogenic/Likely pathogenic
(May 9, 2022)
criteria provided, multiple submitters, no conflictsVCV000016338
11.
GRCh37:
Chr4:1803564
GRCh38:
Chr4:1801837
FGFR3R248CFGFR3-related disorder, FGFR3-related chondrodysplasia, Epidermal nevus,
Hypochondroplasia, Cancer of cervix, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Muenke syndrome,
Crouzon syndrome-acanthosis nigricans syndrome, AchondroplasiaCarcinoma of colon,
Malignant tumor of testis, Malignant tumor of urinary bladder, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Levy-Hollister syndrome, Carcinoma, not provided,
Cancer of cervix, Multiple myeloma, Thanatophoric dysplasia type 1,
Seborrheic keratosis, Achondroplasia, Skeletal dysplasia with acanthosis nigricans,
Epidermal nevus, Lung adenocarcinoma, Squamous cell lung carcinoma,
Squamous cell carcinoma of the head and neck, Hamartoma, Transitional cell carcinoma of the bladder,
Growth delay, Lower limb undergrowth, Upper limb undergrowth,
Short ribs, Narrow chest, Disproportionate short-limb short stature,
Lethal short-limbed short stature, Skeletal dysplasia, Bowed humerus,
Small for gestational age, Bell-shaped thorax, Femoral bowing,
Short stature, ...see more
Pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflictsVCV000016332
12.
GRCh37:
Chr4:1806119
GRCh38:
Chr4:1804392
FGFR3G380R, G382REpidermal nevus, Hypochondroplasia, Cancer of cervix,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2,
Muenke syndrome, Crouzon syndrome-acanthosis nigricans syndrome, Achondroplasia,
Carcinoma of colon, Malignant tumor of testisMalignant tumor of urinary bladder,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Levy-Hollister syndrome, Inborn genetic diseases,
not specified, not provided, Hypochondroplasia,
Achondroplasia, Epidermal nevus, ...see more
Conflicting interpretations of pathogenicity
(Jun 24, 2022)
criteria provided, conflicting interpretationsVCV000016327
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