ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q26.33-27.1(chr3:180834336-183551661)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 |
- | 237 | |
ATP11B | - | - |
GRCh38 GRCh37 |
47 | 80 | |
B3GNT5 | - | - |
GRCh38 GRCh37 |
- | 58 | |
DCUN1D1 | - | - |
GRCh38 GRCh37 |
5 | 39 | |
KLHL24 | - | - |
GRCh38 GRCh37 |
69 | 109 | |
KLHL6 | - | - |
GRCh38 GRCh37 |
13 | 56 | |
LAMP3 | - | - |
GRCh38 GRCh37 |
33 | 69 | |
MAP6D1 | - | - |
GRCh38 GRCh37 |
9 | 59 | |
MCCC1 | - | - |
GRCh38 GRCh37 |
822 | 873 | |
MCF2L2 | - | - |
GRCh38 GRCh37 |
69 | 128 |
There are 3 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) |
|
- | RCV001267852.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 17, 2022