ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
DIP2A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
142 | 254 | |
LSS | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
274 | 396 | |
C21orf58 | - | - | - |
GRCh38 GRCh37 |
- | 118 |
COL6A1 | - | - |
GRCh38 GRCh37 |
1780 | 1892 | |
COL6A2 | - | - |
GRCh38 GRCh37 |
2044 | 2183 | |
COL6A2-DT | - | - | - | GRCh38 | - | 51 |
DIP2A-IT1 | - | - | - | GRCh38 | - | 48 |
FTCD | - | - |
GRCh38 GRCh38 GRCh37 |
259 | 434 | |
FTCD-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 88 |
LOC101928796 | - | - | - | GRCh38 | - | 48 |
There are 42 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jul 16, 2013 | RCV000141901.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024