ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q33.2-34(chr13:106043720-110366226)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
16 | 133 |
ARGLU1 | - | - |
GRCh38 GRCh37 |
10 | 120 | |
ARGLU1-DT | - | - | - | GRCh38 | - | 41 |
COL4A1 | - | - |
GRCh38 GRCh37 |
2107 | 2276 | |
COL4A2 | - | - |
GRCh38 GRCh37 |
1094 | 1578 | |
EFNB2 | - | - |
GRCh38 GRCh37 |
9 | 128 | |
IRS2 | - | - |
GRCh38 GRCh37 |
89 | 202 | |
LIG4 | - | - |
GRCh38 GRCh37 |
699 | 816 | |
LINC00370 | - | - | - | GRCh38 | - | 46 |
LINC00396 | - | - | - | GRCh38 | - | 47 |
There are 82 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051451.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024