Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
An Autosomal dominant mode(s) within the Bone disorders category
Conflicting classifications of pathogenicity
2
Likely pathogenic
5
Pathogenic
1
Pathogenic/Likely pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000095.3(COMP):c.950A>G (p.Asp317Gly) | Single nucleotide variant | Chr19:18788237 | Conflicting classifications of pathogenicity | Missense variant | rs1601057057 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000095.3(COMP):c.868G>T (p.Asp290Tyr) | Single nucleotide variant | Chr19:18788319 | Pathogenic | Missense variant | rs2145903266 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000095.3(COMP):c.1394G>T (p.Gly465Val) | Single nucleotide variant | Chr19:18786060 | Likely pathogenic | Missense variant | rs2145900849 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000095.3(COMP):c.983G>T (p.Cys328Phe) | Single nucleotide variant | Chr19:18787643 | Likely pathogenic | Missense variant | rs2145902336 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000095.3(COMP):c.925G>A (p.Gly309Arg) | Single nucleotide variant | Chr19:18788262 | Pathogenic/Likely pathogenic | Missense variant | rs2145903203 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000095.3(COMP):c.1416_1421del (p.Asn474_Asp475del) | Deletion | Chr19:18786033 - 18786038 | Likely pathogenic | Inframe_deletion | rs2055164523 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000095.3(COMP):c.874T>C (p.Cys292Arg) | Single nucleotide variant | Chr19:18788313 | Pathogenic/Likely pathogenic | Missense variant | rs2055184939 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000095.3(COMP):c.1201G>C (p.Asp401His) | Single nucleotide variant | Chr19:18786585 | Likely pathogenic | Missense variant | rs2055169002 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000095.3(COMP):c.1309G>A (p.Asp437Asn) | Single nucleotide variant | Chr19:18786145 | Conflicting classifications of pathogenicity | Missense variant | rs2055165476 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000095.3(COMP):c.1445A>T (p.Asp482Val) | Single nucleotide variant | Chr19:18786009 | Likely pathogenic | Missense variant | rs2055164276 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution