ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3
Germline
Classification
(1)
Likely 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 | |||
EP300 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1523 | 1656 | |
TNRC6B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
328 | 355 | |
ACO2 | - | - |
GRCh38 GRCh37 |
503 | 774 | |
ADSL | - | - |
GRCh38 GRCh37 |
836 | 865 | |
CHADL | - | - |
GRCh38 GRCh37 |
75 | 112 | |
CSDC2 | - | - |
GRCh38 GRCh37 |
10 | 36 | |
DESI1 | - | - |
GRCh38 GRCh37 |
4 | 30 | |
DNAJB7 | - | - |
GRCh38 GRCh37 |
- | 66 | |
L3MBTL2 | - | - |
GRCh38 GRCh37 |
29 | 76 | |
L3MBTL2-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 39 |
There are 17 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 9, 2023 | RCV003481509.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 06, 2024