ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)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 |
4387 | 4476 | |
CNOT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
528 | 575 | |
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 | |
AARS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1392 | 1434 | |
CBFB | No evidence available | No evidence available |
GRCh38 GRCh37 |
13 | 53 | |
ADGRG1 | - | - |
GRCh38 GRCh37 |
935 | 962 | |
ADGRG3 | - | - |
GRCh38 GRCh37 |
42 | 68 | |
ADGRG5 | - | - |
GRCh38 GRCh37 |
38 | 66 | |
AGRP | - | - |
GRCh38 GRCh37 |
- | 42 |
There are 591 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) |
|
Aug 12, 2011 | RCV000052405.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024