ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p11.2(chr16:29581462-29720976)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 | |||
LOC112352679 | - | - | - | GRCh38 | - | 99 |
LOC116276452 | - | - | - | GRCh38 | - | 122 |
LOC121587540 | - | - | - | GRCh38 | - | 122 |
LOC125146439 | - | - | - | GRCh38 | - | 120 |
LOC130058756 | - | - | - | GRCh38 | - | 77 |
LOC130058757 | - | - | - | GRCh38 | - | 80 |
LOC130058758 | - | - | - | GRCh38 | - | 83 |
LOC130058759 | - | - | - | GRCh38 | - | 83 |
LOC130058760 | - | - | - | GRCh38 | - | 92 |
LOC130058761 | - | - | - | GRCh38 | - | 92 |
There are 13 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 30, 2011 | RCV000140294.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023