ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3
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 | |||
EP300 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1523 | 1656 | |
TCF20 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
845 | 882 | |
TNRC6B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
328 | 355 | |
A4GALT | - | - |
GRCh38 GRCh37 |
87 | 132 | |
ACO2 | - | - |
GRCh38 GRCh37 |
503 | 774 | |
ADSL | - | - |
GRCh38 GRCh37 |
836 | 865 | |
APOBEC3A | - | - |
GRCh38 GRCh37 |
7 | 32 | |
APOBEC3B | - | - |
GRCh38 GRCh37 |
15 | 47 | |
APOBEC3C | - | - |
GRCh38 GRCh37 |
17 | 36 | |
APOBEC3D | - | - |
GRCh38 GRCh37 |
31 | 51 |
There are 98 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) |
|
- | RCV003986179.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024