ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3
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 | |||
CDH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4387 | 4476 | |
CTCF | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
261 | 294 | |
ACD | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1020 | 1186 | |
SDR42E1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
31 | 84 | |
AARS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1393 | 1435 | |
CBFB | No evidence available | No evidence available |
GRCh38 GRCh37 |
13 | 53 | |
ADAMTS18 | - | - |
GRCh38 GRCh37 |
1078 | 1189 | |
ADAT1 | - | - |
GRCh38 GRCh37 |
38 | 83 | |
AGRP | - | - |
GRCh38 GRCh37 |
- | 42 | |
AP1G1 | - | - |
GRCh38 GRCh37 |
58 | 97 |
There are 861 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 10, 2014 | RCV000143742.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024