ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q22.1(chr16:67132790-68166320)
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 |
263 | 296 | |
ACD | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1022 | 1189 | |
CBFB | No evidence available | No evidence available |
GRCh38 GRCh37 |
13 | 53 | |
AGRP | - | - |
GRCh38 GRCh37 |
- | 42 | |
ATP6V0D1 | - | - |
GRCh38 GRCh37 |
7 | 37 | |
B3GNT9 | - | - | - |
GRCh38 GRCh37 |
13 | 51 |
C16orf86 | - | - | - |
GRCh38 GRCh37 |
1 | 34 |
CARMIL2 | - | - |
GRCh38 GRCh37 |
949 | 985 | |
CENPT | - | - |
GRCh38 GRCh37 |
57 | 206 | |
CTRL | - | - |
GRCh38 GRCh37 |
27 | 57 |
There are 39 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767617.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022