ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q22.1(chr16:66694180-67865445)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 | |||
CTCF | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
266 | 300 | |
ACD | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1074 | 1246 | |
CBFB | No evidence available | No evidence available |
GRCh38 GRCh37 |
13 | 54 | |
AGRP | - | - |
GRCh38 GRCh37 |
- | 44 | |
ATP6V0D1 | - | - |
GRCh38 GRCh37 |
10 | 41 | |
ATP6V0D1-DT | - | - | - | GRCh38 | - | 26 |
B3GNT9 | - | - | - |
GRCh38 GRCh37 |
17 | 57 |
C16orf86 | - | - | - |
GRCh38 GRCh37 |
1 | 35 |
CA7 | - | - |
GRCh38 GRCh37 |
14 | 49 | |
CARMIL2 | - | - |
GRCh38 GRCh37 |
949 | 987 |
There are 147 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053336.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023