ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21(chr22:18644790-21800471)
Germline
Classification
(1)
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 | |||
TBX1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
932 | 1320 | |
CRKL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
24 | 424 | |
HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
100 | 481 | |
AIFM3 | - | - |
GRCh38 GRCh37 |
39 | 440 | |
ARVCF | - | - |
GRCh38 GRCh37 |
163 | 636 | |
C22orf39 | - | - | - |
GRCh38 GRCh37 |
- | 380 |
CDC45 | - | - |
GRCh38 GRCh37 |
285 | 667 | |
CLDN5 | - | - |
GRCh38 GRCh37 |
12 | 392 | |
CLTCL1 | - | - |
GRCh38 GRCh37 |
149 | 543 | |
COMT | - | - |
GRCh38 GRCh37 |
87 | 606 |
There are 41 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) |
|
- | RCV002280730.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023