An
Autosomal dominant
mode(s) within the
Neurodevelopmental disorders
category
Likely pathogenic
4
Pathogenic/Likely pathogenic
1
Uncertain significance
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001291415.2(KDM6A):c.3886C>T (p.Leu1296Phe) | Single nucleotide variant | ChrX:45089924 | Uncertain significance | Missense variant|non-coding transcript variant | rs2523335532 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_003482.4(KMT2D):c.1258+5G>C | Single nucleotide variant | Chr12:49052559 | Uncertain significance | Intron variant |
.Pediatrics Genetics, Post Graduate Institute of Medical Education and Research |
|
| NM_003482.4(KMT2D):c.3231dup (p.Val1078fs) | Duplication | Chr12:49050356 - 49050357 | Likely pathogenic | Frameshift variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_003482.4(KMT2D):c.7644del (p.Lys2548fs) | Deletion | Chr12:49040126 | Likely pathogenic | Frameshift variant | rs2498395548 |
.Lifecell International Pvt. Ltd |
| NM_003482.4(KMT2D):c.15311G>T (p.Cys5104Phe) | Single nucleotide variant | Chr12:49026655 | Likely pathogenic | Missense variant | rs2120361380 |
.Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. |
| NM_003482.4(KMT2D):c.6109G>C (p.Asp2037His) | Single nucleotide variant | Chr12:49042089 | Likely pathogenic | Missense variant | rs2120552716 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter) | Single nucleotide variant | Chr12:49039605 | Pathogenic/Likely pathogenic | Nonsense | rs1555191598 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital .Lifecell International Pvt. Ltd |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution