ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p11.2(chr2:86062007-86282203)x4
Germline
Classification
(1)
Likely benign
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 | |||
IMMT | - | - |
GRCh38 GRCh37 |
46 | 84 | |
LOC112841602 | - | - | - | GRCh38 | - | 10 |
LOC122787146 | - | - | - | GRCh38 | - | 8 |
LOC122787147 | - | - | - | GRCh38 | - | 10 |
LOC126806264 | - | - | - | GRCh38 | - | 40 |
LOC129388884 | - | - | - | GRCh38 | - | 6 |
LOC129388885 | - | - | - | GRCh38 | - | 8 |
LOC129934242 | - | - | - | GRCh38 | - | 8 |
LOC129934243 | - | - | - | GRCh38 | - | 18 |
LOC129934244 | - | - | - | GRCh38 | - | 12 |
There are 11 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
|
Likely benign (1) |
|
Apr 4, 2013 | RCV000142984.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024