ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q26.33(chr3:181221877-182452343)x1
Germline
Classification
(1)
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 | |||
SOX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 254 | |
LINC01206 | - | - | - | GRCh38 | - | 16 |
LINC01994 | - | - | - | GRCh38 | - | 16 |
LOC102724604 | - | - | - | GRCh38 | - | 15 |
LOC108281177 | - | - | - | GRCh38 | - | 166 |
LOC108281178 | - | - | - | GRCh38 | - | 20 |
LOC110121064 | - | - | - | GRCh38 | - | 16 |
LOC114004376 | - | - | - | GRCh38 | - | 15 |
LOC121725165 | - | - | - | GRCh38 | - | 16 |
LOC123256955 | - | - | - | GRCh38 | - | 17 |
There are 5 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
|
Pathogenic (1) |
|
Oct 26, 2011 | RCV000137897.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024