ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3
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 | |||
CDH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4406 | 4498 | |
CNOT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
534 | 581 | |
CTCF | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
262 | 295 | |
ACD | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1022 | 1189 | |
AARS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1403 | 1448 | |
CBFB | No evidence available | No evidence available |
GRCh38 GRCh37 |
13 | 53 | |
AGRP | - | - |
GRCh38 GRCh37 |
- | 42 | |
AP1G1 | - | - |
GRCh38 GRCh37 |
60 | 101 | |
ATP6V0D1 | - | - |
GRCh38 GRCh37 |
7 | 37 | |
ATP6V0D1-DT | - | - | - | GRCh38 | - | 25 |
There are 567 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) |
|
Aug 12, 2011 | RCV000052408.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023