An
Autosomal dominant
mode(s) within the
Bone disorders
category
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar
Pathogenic
4
Pathogenic/Likely pathogenic
1
Uncertain significance
2
| Variant name | Variant type | Phenotype | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000142.5(FGFR3):c.200G>C (p.Gly67Ala) | Single nucleotide variant | Thanatophoric dysplasia, type 2 | Uncertain significance | missense variant|non-coding transcript variant | rs369232922 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000142.5(FGFR3):c.1519G>A (p.Val507Met) | Single nucleotide variant | Thanatophoric dysplasia type 1 | Uncertain significance | missense variant|non-coding transcript variant | rs1560437651 |
.Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS |
| NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) | Single nucleotide variant |
not provided Thanatophoric dysplasia type 1 Achondroplasia |
Pathogenic | missense variant|non-coding transcript variant|intron variant | rs121913485 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) | Single nucleotide variant |
Carcinoma of colon Malignant tumor of testis Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Epidermal nevus Levy-Hollister syndrome Crouzon syndrome-acanthosis nigricans syndrome Thanatophoric dysplasia type 1 Thanatophoric dysplasia, type 2 Hypochondroplasia Muenke syndrome Cervical cancer Malignant tumor of urinary bladder Camptodactyly-tall stature-scoliosis-hearing loss syndrome Achondroplasia Connective tissue disorder Malignant tumor of urinary bladder Thanatophoric dysplasia type 1 Achondroplasia Thanatophoric dysplasia type 1 Thanatophoric dysplasia, type 2 Cervical cancer FGFR3-related disorder not provided Malignant neoplastic disease |
Pathogenic | missense variant|non-coding transcript variant | rs121913483 |
.Bioinformatics dept., Datar Cancer Genetics Limited, India .Neuberg Centre For Genomic Medicine, NCGM .Suma Genomics |
| NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) | Single nucleotide variant |
Larsen syndrome Carcinoma of colon Malignant tumor of testis Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Epidermal nevus Levy-Hollister syndrome Crouzon syndrome-acanthosis nigricans syndrome Thanatophoric dysplasia type 1 Thanatophoric dysplasia, type 2 Hypochondroplasia Muenke syndrome Cervical cancer Malignant tumor of urinary bladder Camptodactyly-tall stature-scoliosis-hearing loss syndrome Achondroplasia Colorectal cancer Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Epidermal nevus Crouzon syndrome-acanthosis nigricans syndrome Thanatophoric dysplasia type 1 Thanatophoric dysplasia, type 2 Lacrimoauriculodentodigital syndrome 2 Hypochondroplasia Muenke syndrome Cervical cancer Germ cell tumor of testis Malignant tumor of urinary bladder Camptodactyly-tall stature-scoliosis-hearing loss syndrome Achondroplasia Connective tissue disorder Inborn genetic diseases Achondroplasia Hypochondroplasia FGFR3-related disorder not provided Short stature |
Pathogenic/Likely pathogenic | missense variant|non-coding transcript variant | rs28933068 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) | Single nucleotide variant |
Carcinoma of colon Malignant tumor of testis Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Epidermal nevus Levy-Hollister syndrome Crouzon syndrome-acanthosis nigricans syndrome Thanatophoric dysplasia type 1 Thanatophoric dysplasia, type 2 Hypochondroplasia Muenke syndrome Cervical cancer Malignant tumor of urinary bladder Camptodactyly-tall stature-scoliosis-hearing loss syndrome Achondroplasia Colorectal cancer Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Epidermal nevus Crouzon syndrome-acanthosis nigricans syndrome Thanatophoric dysplasia type 1 Thanatophoric dysplasia, type 2 Lacrimoauriculodentodigital syndrome 2 Hypochondroplasia Muenke syndrome Cervical cancer Germ cell tumor of testis Malignant tumor of urinary bladder Camptodactyly-tall stature-scoliosis-hearing loss syndrome Achondroplasia Connective tissue disorder Thanatophoric dysplasia type 1 Epidermal nevus Thanatophoric dysplasia, type 2 Thanatophoric dysplasia type 1 Thanatophoric dysplasia, type 2 Cervical cancer Muenke syndrome Achondroplasia See cases FGFR3-related chondrodysplasia FGFR3-related disorder not provided Disproportionate short-limb short stature Short stature Skeletal dysplasia Bowed humerus Growth delay Bell-shaped thorax Short ribs Narrow chest Lower limb undergrowth Upper limb undergrowth Femoral bowing Lethal short-limbed short stature Small for gestational age Hamartoma |
Pathogenic | missense variant|non-coding transcript variant | rs121913482 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) | Single nucleotide variant |
FGFR3-related disorder Carcinoma of colon Malignant tumor of testis Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Hypochondroplasia Thanatophoric dysplasia, type 2 Thanatophoric dysplasia type 1 Crouzon syndrome-acanthosis nigricans syndrome Levy-Hollister syndrome Muenke syndrome Camptodactyly-tall stature-scoliosis-hearing loss syndrome Epidermal nevus Malignant tumor of urinary bladder Cervical cancer Achondroplasia Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Hypochondroplasia Thanatophoric dysplasia, type 2 Thanatophoric dysplasia type 1 Crouzon syndrome-acanthosis nigricans syndrome Lacrimoauriculodentodigital syndrome 2 Muenke syndrome Germ cell tumor of testis Colorectal cancer Camptodactyly-tall stature-scoliosis-hearing loss syndrome Epidermal nevus Malignant tumor of urinary bladder Cervical cancer Achondroplasia Connective tissue disorder Inborn genetic diseases not provided Muenke syndrome Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Camptodactyly-tall stature-scoliosis-hearing loss syndrome Hypochondroplasia Achondroplasia Intellectual disability |
Pathogenic | missense variant|non-coding transcript variant|intron variant | rs28931614 |
.Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar