ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21(chr22:18916843-20311858)x1
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 | |||
TBX1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
936 | 1328 | |
HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
100 | 484 | |
ARVCF | - | - |
GRCh38 GRCh37 |
163 | 640 | |
C22orf39 | - | - | - |
GRCh38 GRCh37 |
- | 383 |
CDC45 | - | - |
GRCh38 GRCh37 |
285 | 670 | |
CLDN5 | - | - |
GRCh38 GRCh37 |
12 | 395 | |
CLTCL1 | - | - |
GRCh38 GRCh37 |
149 | 546 | |
COMT | - | - |
GRCh38 GRCh37 |
88 | 611 | |
DGCR2 | - | - |
GRCh38 GRCh37 |
60 | 462 | |
DGCR6L | - | - |
GRCh38 GRCh37 |
13 | 382 |
There are 18 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) |
|
May 25, 2023 | RCV002473556.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024