ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)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 | |||
AQP8 | - | - |
GRCh38 GRCh37 |
20 | 52 | |
ARHGAP17 | - | - |
GRCh38 GRCh38 GRCh37 |
46 | 78 | |
C16orf82 | - | - | - |
GRCh38 GRCh37 |
2 | 42 |
CACNG3 | - | - |
GRCh38 GRCh37 |
4 | 37 | |
CDR2 | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 151 | |
CDR2-DT | - | - | - |
GRCh38 GRCh38 |
- | 33 |
CHP2 | - | - | - |
GRCh38 GRCh37 |
22 | 55 |
COG7 | - | - |
GRCh38 GRCh37 |
473 | 534 | |
DCTN5 | - | - |
GRCh38 GRCh37 |
8 | 42 | |
EARS2 | - | - |
GRCh38 GRCh37 |
251 | 353 |
There are 201 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052519.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023