ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)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 | |||
SOX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 237 | |
ABCC5 | - | - |
GRCh38 GRCh37 |
61 | 102 | |
ABCF3 | - | - |
GRCh38 GRCh37 |
32 | 77 | |
ALG3 | - | - |
GRCh38 GRCh37 |
197 | 245 | |
AP2M1 | - | - |
GRCh38 GRCh37 |
202 | 261 | |
ATP11B | - | - |
GRCh38 GRCh37 |
47 | 80 | |
B3GNT5 | - | - |
GRCh38 GRCh37 |
- | 58 | |
C3orf70 | - | - | - |
GRCh38 GRCh37 |
4 | 46 |
CAMK2N2 | - | - |
GRCh38 GRCh37 |
- | 46 | |
CCDC39 | - | - |
GRCh38 GRCh37 |
634 | 848 |
There are 39 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003986441.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024