An
Autosomal dominant, Autosomal recessive, X-linked dominant
mode(s) within the
Skin disorders
category
Conflicting classifications of pathogenicity
8
Likely pathogenic
2
Pathogenic
5
Uncertain significance
3
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001363.5(DKC1):c.204C>G (p.His68Gln) | Single nucleotide variant | ChrX:154765939 | Likely pathogenic | Missense variant|non-coding transcript variant | rs199422245 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr) | Single nucleotide variant | ChrX:154774602 | Pathogenic | Missense variant|non-coding transcript variant | rs199422252 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_018648.4(NOP10):c.34G>C (p.Asp12His) | Single nucleotide variant | Chr15:34343040 | Conflicting classifications of pathogenicity | Missense variant | rs146261631 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_001283009.2(RTEL1):c.396-43T>C | Single nucleotide variant | Chr20:63662503 | Uncertain significance | Missense variant|intron variant | rs771899332 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_001283009.2(RTEL1):c.2932_2944del (p.Tyr978fs) | Deletion | Chr20:63693221 - 63693233 | Pathogenic | Non-coding transcript variant|frameshift variant | rs2090805858 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_198253.3(TERT):c.1452A>C (p.Glu484Asp) | Single nucleotide variant | Chr5:1293434 | Pathogenic | Missense variant|non-coding transcript variant | rs2478409320 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_198253.3(TERT):c.2323C>T (p.Gln775Ter) | Single nucleotide variant | Chr5:1272244 | Pathogenic | Nonsense | rs2478210028 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_198253.3(TERT):c.2746G>A (p.Gly916Ser) | Single nucleotide variant | Chr5:1264501 | Conflicting classifications of pathogenicity | Missense variant|intron variant | rs1189683846 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_198253.3(TERT):c.902G>T (p.Arg301Leu) | Single nucleotide variant | Chr5:1293984 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs1268051204 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_198253.3(TERT):c.1828C>T (p.Arg610Trp) | Single nucleotide variant | Chr5:1280280 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs747940807 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_198253.3(TERT):c.2368G>A (p.Val790Ile) | Single nucleotide variant | Chr5:1272199 | Conflicting classifications of pathogenicity | Missense variant | rs371413388 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_198253.3(TERT):c.2936G>A (p.Arg979Gln) | Single nucleotide variant | Chr5:1260508 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs765566930 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_198253.3(TERT):c.2227C>T (p.Arg743Trp) | Single nucleotide variant | Chr5:1278700 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs1388515349 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_198253.3(TERT):c.2329G>A (p.Val777Met) | Single nucleotide variant | Chr5:1272238 | Conflicting classifications of pathogenicity | Missense variant | rs1554040129 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_001099274.3(TINF2):c.865C>G (p.Pro289Ala) | Single nucleotide variant | Chr14:24240615 | Likely pathogenic | Missense variant | rs1555304055 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_001099274.3(TINF2):c.845G>A (p.Arg282His) | Single nucleotide variant | Chr14:24240635 | Pathogenic | Missense variant | rs121918544 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology .Lifecell International Pvt. Ltd |
| NM_001143992.2(WRAP53):c.892C>T (p.Arg298Trp) | Single nucleotide variant | Chr17:7701726 | Uncertain significance | Missense variant | rs1055897133 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_001143992.2(WRAP53):c.767T>C (p.Ile256Thr) | Single nucleotide variant | Chr17:7701494 | Uncertain significance | Missense variant | rs548123219 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution