ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
EP300 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1550 | 1684 | |
TNRC6B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
350 | 377 | |
ACO2 | - | - |
GRCh38 GRCh37 |
504 | 777 | |
ADSL | - | - |
GRCh38 GRCh37 |
838 | 867 | |
ATF4 | - | - |
GRCh38 GRCh37 |
41 | 59 | |
CACNA1I | - | - |
GRCh38 GRCh37 |
276 | 296 | |
CHADL | - | - |
GRCh38 GRCh37 |
79 | 116 | |
DNAJB7 | - | - |
GRCh38 GRCh37 |
- | 70 | |
ENTHD1 | - | - | - |
GRCh38 GRCh37 |
35 | 57 |
FAM83F | - | - | - |
GRCh38 GRCh37 |
52 | 73 |
There are 21 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 21, 2021 | RCV002475709.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022