ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |
ABCC11 | - | - |
GRCh38 GRCh37 |
90 | 111 | |
ABCC12 | - | - |
GRCh38 GRCh37 |
64 | 85 | |
ADCY7 | - | - |
GRCh38 GRCh37 |
47 | 74 | |
BRD7 | - | - |
GRCh38 GRCh37 |
18 | 47 | |
C16orf78 | - | - | - |
GRCh38 GRCh37 |
2 | 22 |
C16orf87 | - | - | - |
GRCh38 GRCh37 |
- | 26 |
CASC22 | - | - | - | GRCh38 | - | 12 |
CBLN1 | - | - |
GRCh38 GRCh37 |
4 | 23 |
There are 202 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) |
|
Apr 8, 2011 | RCV000137306.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023