ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q33.1-34(chr13:103914488-110857896)x3
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 | |||
ABHD13 | - | - | - |
GRCh38 GRCh37 |
22 | 140 |
ARGLU1 | - | - |
GRCh38 GRCh37 |
13 | 124 | |
ARGLU1-DT | - | - | - | GRCh38 | - | 41 |
CARS2 | - | - |
GRCh38 GRCh37 |
689 | 889 | |
COL4A1 | - | - |
GRCh38 GRCh37 |
2133 | 2305 | |
COL4A2 | - | - |
GRCh38 GRCh37 |
1101 | 1592 | |
COL4A2-AS1 | - | - | - | GRCh38 | - | 257 |
COL4A2-AS2 | - | - | - | GRCh38 | - | 186 |
DAOA | - | - |
GRCh38 GRCh37 |
- | 128 | |
DAOA-AS1 | - | - |
GRCh38 GRCh37 |
- | 128 |
There are 144 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Feb 25, 2013 | RCV000143101.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024