An
Autosomal dominant, Autosomal recessive, X-linked dominant
mode(s) within the
Skin disorders
category
Conflicting classifications of pathogenicity
1
Likely pathogenic
2
Pathogenic
4
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) | Single nucleotide variant | Chr10:95621225 | Conflicting classifications of pathogenicity | Missense variant | rs762742204 |
.Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS |
| NM_000052.7(ATP7A):c.3547G>A (p.Gly1183Ser) | Single nucleotide variant | ChrX:78038871 | Uncertain significance | Missense variant|non-coding transcript variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) | Single nucleotide variant | ChrX:78011239 | Pathogenic | Nonsense | rs72554640 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) | Single nucleotide variant | Chr11:65869976 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs193302864 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter) | Single nucleotide variant | Chr14:91877538 | Pathogenic | Nonsense | rs746506432 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_000158.4(GBE1):c.1459G>T (p.Asp487Tyr) | Single nucleotide variant | Chr3:81578084 | Likely pathogenic | Missense variant | rs2106933976 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001042545.2(LTBP4):c.608T>A (p.Leu203Ter) | Single nucleotide variant | Chr19:40605570 | Likely pathogenic | Nonsense | rs2081454038 |
.Lifecell International Pvt. Ltd |
| NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter) | Single nucleotide variant | Chr19:40611169 | Pathogenic | Nonsense | rs1568406407 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_006907.4(PYCR1):c.67+2T>A | Single nucleotide variant | Chr17:81936746 | Pathogenic | Splice donor variant | rs2041207320 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution