ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p25.2-25.1(chr2:4416714-7632837)x1
Germline
Classification
(1)
Likely pathogenic
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 | |||
SOX11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
304 | 326 | |
CMPK2 | - | - |
GRCh38 GRCh37 |
20 | 65 | |
GRASLND | - | - | - | GRCh38 | - | 14 |
LINC00487 | - | - | - | GRCh38 | - | 14 |
LINC01246 | - | - | - | GRCh38 | - | 14 |
LINC01247 | - | - | - | GRCh38 | - | 12 |
LINC01248 | - | - | - | GRCh38 | - | 13 |
LINC01249 | - | - | - | GRCh38 | - | 15 |
LINC01810 | - | - | - | GRCh38 | - | 12 |
LOC100506274 | - | - | - | GRCh38 | - | 13 |
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
|
Likely pathogenic (1) |
|
Sep 1, 2017 | RCV000133995.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024