Neurodegeneration with brain iron accumulation
An Autosomal dominant, Autosomal recessive mode(s) within the Neurodegenerative disorders category
Conflicting classifications of pathogenicity
2
Likely pathogenic
2
Pathogenic
1
Pathogenic/Likely pathogenic
5
Uncertain significance
6
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_031448.6(C19orf12):c.163G>T (p.Gly55Trp) | Single nucleotide variant | Chr19:29702975 | Uncertain significance | Missense variant|5 prime UTR variant |
.Pediatrics Genetics, Post Graduate Institute of Medical Education and Research |
|
| NM_031448.6(C19orf12):c.-10-1G>A | Single nucleotide variant | Chr19:29708424 | Likely pathogenic | Intron variant|splice acceptor variant |
.Institute of Bioinformatics |
|
| NM_031448.6(C19orf12):c.118T>G (p.Phe40Val) | Single nucleotide variant | Chr19:29708296 | Conflicting classifications of pathogenicity | Missense variant|5 prime UTR variant|intron variant | rs2513299932 |
.Institute of Bioinformatics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_031448.6(C19orf12):c.415T>C (p.Tyr139His) | Single nucleotide variant | Chr19:29702723 | Uncertain significance | Missense variant|3 prime UTR variant | rs753880224 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_031448.6(C19orf12):c.146C>T (p.Pro49Leu) | Single nucleotide variant | Chr19:29708268 | Uncertain significance | Missense variant|5 prime UTR variant|intron variant | rs1424999393 |
.Institute of Bioinformatics |
| NM_031448.6(C19orf12):c.332T>C (p.Val111Ala) | Single nucleotide variant | Chr19:29702806 | Uncertain significance | Missense variant|intron variant | rs1972173461 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_031448.6(C19orf12):c.46T>C (p.Ser16Pro) | Single nucleotide variant | Chr19:29708368 | Uncertain significance | Missense variant|5 prime UTR variant|intron variant | rs1568332606 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_031448.6(C19orf12):c.161-2del | Deletion | Chr19:29702979 | Conflicting classifications of pathogenicity | Splice acceptor variant | rs1352744778 |
.Institute of Bioinformatics |
| NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu) | Single nucleotide variant | Chr19:29702923 | Likely pathogenic | Missense variant | rs201987973 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_031448.6(C19orf12):c.-2C>T | Single nucleotide variant | Chr19:29708415 | Pathogenic/Likely pathogenic | 5 prime UTR variant|intron variant | rs397514477 |
.Institute of Bioinformatics |
| NM_025233.7(COASY):c.1486-3C>G | Single nucleotide variant | Chr17:42565656 | Pathogenic/Likely pathogenic | Intron variant | rs577714887 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences .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_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) | Single nucleotide variant | Chr22:38112541 | Pathogenic/Likely pathogenic | Missense variant | rs121908687 |
.Lifecell International Pvt. Ltd |
| NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) | Single nucleotide variant | Chr22:38112558 | Pathogenic/Likely pathogenic | Missense variant | rs121908686 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001029896.2(WDR45):c.516+26G>A | Single nucleotide variant | ChrX:49075840 | Uncertain significance | Intron variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_001029896.2(WDR45):c.827+1G>C | Single nucleotide variant | ChrX:49075363 | Pathogenic | Splice donor variant | rs1557083958 |
.Lifecell International Pvt. Ltd |
| NM_001029896.2(WDR45):c.516+1_516+3del | Microsatellite | ChrX:49075863 - 49075865 | Pathogenic/Likely pathogenic | Splice donor variant | rs1557084113 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution