An
Autosomal recessive
mode(s) within the
Eye disorders
category
Conflicting classifications of pathogenicity
4
Likely pathogenic
5
Pathogenic
3
Pathogenic/Likely pathogenic
8
Uncertain significance
3
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) | Single nucleotide variant | Chr11:66515549 | Conflicting classifications of pathogenicity | Missense variant | rs200688985 |
.Lifecell International Pvt. Ltd |
| NM_024649.5(BBS1):c.48-2A>C | Single nucleotide variant | Chr11:66511011 | Pathogenic/Likely pathogenic | Splice acceptor variant | rs764245266 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences .Neuberg Centre For Genomic Medicine, NCGM |
| NM_024649.5(BBS1):c.981del (p.Ala328fs) | Deletion | Chr11:66523751 | Pathogenic/Likely pathogenic | Frameshift variant|intron variant | rs1057516371 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_024685.4(BBS10):c.180dup (p.Glu61fs) | Duplication | Chr12:76348178 - 76348179 | Pathogenic | Frameshift variant | rs2540957709 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_024685.4(BBS10):c.569T>C (p.Ile190Thr) | Single nucleotide variant | Chr12:76347416 | Likely pathogenic | Missense variant | rs2540956687 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs) | Deletion | Chr12:76346647 - 76346648 | Pathogenic/Likely pathogenic | Frameshift variant | rs1389599028 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_024685.4(BBS10):c.271dup (p.Cys91fs) | Duplication | Chr12:76347713 - 76347714 | Pathogenic | Frameshift variant | rs549625604 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences .Neuberg Centre For Genomic Medicine, NCGM .SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation |
| NM_152618.3(BBS12):c.250G>A (p.Gly84Arg) | Single nucleotide variant | Chr4:122742142 | Likely pathogenic | Missense variant | rs1578489760 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| NM_031885.5(BBS2):c.683T>A (p.Val228Asp) | Single nucleotide variant | Chr16:56506154 | Uncertain significance | Missense variant|non-coding transcript variant |
.Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences |
|
| NM_031885.5(BBS2):c.505T>C (p.Cys169Arg) | Single nucleotide variant | Chr16:56510888 | Uncertain significance | Missense variant|non-coding transcript variant | rs2543732277 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter) | Single nucleotide variant | Chr16:56497760 | Pathogenic | Nonsense|non-coding transcript variant | rs762047808 |
.Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences |
| NM_033028.5(BBS4):c.210_213del (p.Ile70fs) | Microsatellite | Chr15:72712293 - 72712296 | Likely pathogenic | 5 prime UTR variant|frameshift variant|non-coding transcript variant | rs775928735 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met) | Single nucleotide variant | Chr12:88083854 | Conflicting classifications of pathogenicity | Missense variant | rs369451049 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) | Duplication | Chr12:88071890 - 88071891 | Pathogenic/Likely pathogenic | Nonsense | rs751361090 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) | Single nucleotide variant | Chr12:88077263 | Pathogenic/Likely pathogenic | Nonsense | rs137852832 |
.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 .Suma Genomics |
| NM_177965.4(CFAP418):c.130C>T (p.Gln44Ter) | Single nucleotide variant | Chr8:95269060 | Likely pathogenic | Nonsense | rs751922029 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| NM_177965.4(CFAP418):c.240del (p.Ser81fs) | Deletion | Chr8:95263690 | Likely pathogenic | Frameshift variant | rs1587357327 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| NM_017777.4(MKS1):c.958G>A (p.Val320Ile) | Single nucleotide variant | Chr17:58210980 | Conflicting classifications of pathogenicity | Missense variant | rs386834053 |
.Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS |
| NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) | Duplication | Chr17:58206501 - 58206502 | Pathogenic/Likely pathogenic | Frameshift variant|intron variant | rs386834044 |
.Pediatrics Genetics, Post Graduate Institute of Medical Education and Research |
| NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) | Single nucleotide variant | Chr8:93765413 | Pathogenic/Likely pathogenic | Nonsense|non-coding transcript variant | rs765468645 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) | Single nucleotide variant | Chr8:93797456 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs863225238 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_144596.4(TTC8):c.265+5G>A | Single nucleotide variant | Chr14:88839577 | Uncertain significance | Intron variant | rs2094770219 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_144596.4(TTC8):c.489G>A (p.Thr163=) | Single nucleotide variant | Chr14:88841196 | Pathogenic/Likely pathogenic | Synonymous variant|5 prime UTR variant|non-coding transcript variant | rs119103286 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution