ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11p14.2-14.1(chr11:26555328-27307056)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ANO3 | - | - |
GRCh38 GRCh37 |
485 | 557 | |
BBOX1 | - | - |
GRCh38 GRCh37 |
- | 59 | |
BBOX1-AS1 | - | - | - | GRCh38 | - | 39 |
FIBIN | - | - |
GRCh38 GRCh37 |
16 | 44 | |
LOC108178983 | - | - | - | GRCh38 | - | 6 |
LOC108178984 | - | - | - | GRCh38 | - | 6 |
LOC124421509 | - | - | - | GRCh38 | - | 6 |
LOC126861169 | - | - | - | GRCh38 | - | 8 |
LOC130005451 | - | - | - | GRCh38 | - | 7 |
LOC130005452 | - | - | - | GRCh38 | - | 7 |
There are 2 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
|
Uncertain significance (1) |
|
Aug 13, 2012 | RCV000138880.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024