ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q12.1(chr16:49740807-51876620)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 |
126 | 333 | |
SALL1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
491 | 517 | |
ADCY7 | - | - |
GRCh38 GRCh37 |
47 | 74 | |
BRD7 | - | - |
GRCh38 GRCh37 |
18 | 47 | |
CNEP1R1 | - | - |
GRCh38 GRCh37 |
1 | 26 | |
CYLD-AS1 | - | - | - | GRCh38 | - | 88 |
CYLD-AS2 | - | - | - | GRCh38 | - | 187 |
HEATR3 | - | - |
GRCh38 GRCh37 |
33 | 64 | |
HEATR3-AS1 | - | - | - | GRCh38 | - | 13 |
HNRNPA1L3 | - | - | - | GRCh38 | - | 13 |
There are 89 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 | RCV000053331.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023