An
Autosomal dominant
mode(s) within the
Bone disorders
category
Benign
1
Benign/Likely benign
1
Likely pathogenic
3
Pathogenic
5
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000142.5(FGFR3):c.1183C>A (p.Leu395Ile) | Single nucleotide variant | Chr4:1804437 | Likely pathogenic | Missense variant|non-coding transcript variant|intron variant | rs2108797528 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000142.5(FGFR3):c.1144G>A (p.Gly382Ser) | Single nucleotide variant | Chr4:1804398 | Likely pathogenic | Missense variant|non-coding transcript variant|intron variant | rs1360936268 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) | Single nucleotide variant | Chr4:1804372 | 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 | Chr4:1801841 | 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 | Chr4:1805644 | 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.1620C>A (p.Asn540Lys) | Single nucleotide variant | Chr4:1805644 | Pathogenic | Missense variant|non-coding transcript variant | rs28933068 |
.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.742C>T (p.Arg248Cys) | Single nucleotide variant | Chr4:1801837 | 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 | Chr4:1804392 | 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 |
| NM_001308093.3(GATA4):c.*1256A>T | Single nucleotide variant | Chr8:11759731 | Benign | 3 prime UTR variant | rs12458 |
.Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research |
| NM_001308093.3(GATA4):c.*852G>A | Single nucleotide variant | Chr8:11759327 | Benign/Likely benign | 3 prime UTR variant | rs804290 |
.Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research |
| NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr) | Single nucleotide variant | Chr15:48520676 | Likely pathogenic | Missense variant | rs1597583989 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution