ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)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 | |||
CYLD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
125 | 334 | |
SALL1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
490 | 519 | |
AKTIP | - | - |
GRCh38 GRCh37 |
7 | 28 | |
CAPNS2 | - | - |
GRCh38 GRCh37 |
- | 32 | |
CASC16 | - | - | - | GRCh38 | - | 8 |
CASC22 | - | - | - | GRCh38 | - | 12 |
CHD9 | - | - |
GRCh38 GRCh37 |
89 | 110 | |
CHD9NB | - | - | - | GRCh38 | - | 8 |
CRNDE | - | - | GRCh38 | - | 7 | |
CYLD-AS2 | - | - | - | GRCh38 | - | 185 |
There are 96 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 | RCV000053332.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023