ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)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 |
- | 251 | |
ABCC5 | - | - |
GRCh38 GRCh37 |
64 | 106 | |
ABCF3 | - | - |
GRCh38 GRCh37 |
37 | 83 | |
ALG3 | - | - |
GRCh38 GRCh37 |
201 | 250 | |
AP2M1 | - | - |
GRCh38 GRCh37 |
207 | 267 | |
ATP11B | - | - |
GRCh38 GRCh37 |
57 | 90 | |
B3GNT5 | - | - |
GRCh38 GRCh37 |
- | 59 | |
C3orf70 | - | - | - |
GRCh38 GRCh37 |
4 | 47 |
CAMK2N2 | - | - |
GRCh38 GRCh37 |
- | 47 | |
CHRD | - | - |
GRCh38 GRCh37 |
85 | 128 |
There are 33 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) |
|
Mar 1, 2022 | RCV002291534.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023