ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21(chr22:18649190-21022258)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 | |||
TBX1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
949 | 1341 | |
HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
106 | 490 | |
ARVCF | - | - |
GRCh38 GRCh37 |
176 | 653 | |
C22orf39 | - | - | - |
GRCh38 GRCh37 |
- | 383 |
CDC45 | - | - |
GRCh38 GRCh37 |
287 | 672 | |
CLDN5 | - | - |
GRCh38 GRCh37 |
15 | 398 | |
CLTCL1 | - | - |
GRCh38 GRCh37 |
167 | 565 | |
COMT | - | - |
GRCh38 GRCh37 |
88 | 612 | |
DGCR2 | - | - |
GRCh38 GRCh37 |
61 | 463 | |
DGCR6 | - | - |
GRCh38 GRCh37 |
28 | 355 |
There are 29 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV004442816.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024