ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1
Germline
Classification
(1)
Pathogenic
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 | |||
ATP2C2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
152 | 305 | |
ADAD2 | - | - |
GRCh38 GRCh37 |
22 | 141 | |
ATP2C2-AS1 | - | - | - | GRCh38 | - | 114 |
C16orf74 | - | - | - |
GRCh38 GRCh37 |
4 | 60 |
CDH13 | - | - |
GRCh38 GRCh37 |
132 | 230 | |
CDH13-AS2 | - | - | - | GRCh38 | - | 28 |
CEDORA | - | - | - | GRCh38 | - | 34 |
CIBAR2 | - | - |
GRCh38 GRCh37 |
44 | 100 | |
COTL1 | - | - |
GRCh38 GRCh37 |
9 | 72 | |
COX4I1 | - | - |
GRCh38 GRCh37 |
21 | 76 |
There are 195 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Sep 16, 2011 | RCV000136504.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024