ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11p14.3(chr11:22115602-25375696)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 | |||
ANO5 | - | - |
GRCh38 GRCh37 |
1294 | 1330 | |
CCDC179 | - | - | - |
GRCh38 GRCh37 |
- | 33 |
FANCF | - | - |
GRCh38 GRCh37 |
408 | 501 | |
GAS2 | - | - |
GRCh38 GRCh37 |
17 | 54 | |
LINC01495 | - | - | - | GRCh38 | - | 5 |
LINC02686 | - | - | - | GRCh38 | - | 7 |
LINC02718 | - | - | - | GRCh38 | - | 11 |
LINC02726 | - | - | - | GRCh38 | - | 7 |
LOC113939921 | - | - | - | GRCh38 | - | 6 |
LOC121832789 | - | - | - | GRCh38 | - | 7 |
There are 30 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052647.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024