ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1
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 | |
AARS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1392 | 1434 | |
AP1G1 | - | - |
GRCh38 GRCh37 |
58 | 97 | |
ATXN1L | - | - |
GRCh38 GRCh37 |
48 | 86 | |
C16orf47 | - | - | - |
GRCh38 GRCh37 |
- | 37 |
CALB2 | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 58 | |
CDH3 | - | - |
GRCh38 GRCh37 |
691 | 814 | |
CHST4 | - | - | - |
GRCh38 GRCh37 |
25 | 67 |
CHTF8 | - | - |
GRCh38 GRCh37 |
- | 43 | |
CLEC18A | - | - |
GRCh38 GRCh37 |
31 | 67 |
There are 255 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 | RCV000053337.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023