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 |
4335 | 4425 | |
CTCF | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
256 | 291 | |
ACD | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
956 | 1121 | |
SDR42E1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
23 | 81 | |
AARS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1382 | 1426 | |
CBFB | No evidence available | No evidence available |
GRCh38 GRCh37 |
12 | 54 | |
ADAMTS18 | - | - |
GRCh38 GRCh37 |
1065 | 1178 | |
ADAT1 | - | - |
GRCh38 GRCh37 |
29 | 78 | |
AGRP | - | - |
GRCh38 GRCh37 |
- | 43 | |
AP1G1 | - | - |
GRCh38 GRCh37 |
46 | 90 |
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 | RCV000143742.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 02, 2023