ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.21(chr22:18339130-21207225)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 |
938 | 1330 | |
CRKL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
25 | 428 | |
HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
101 | 485 | |
AIFM3 | - | - |
GRCh38 GRCh37 |
39 | 443 | |
ARVCF | - | - |
GRCh38 GRCh37 |
164 | 641 | |
C22orf39 | - | - | - |
GRCh38 GRCh37 |
- | 383 |
CCDC188 | - | - | - | GRCh38 | - | 172 |
CDC45 | - | - |
GRCh38 GRCh37 |
285 | 670 | |
CLDN5 | - | - |
GRCh38 GRCh37 |
13 | 396 | |
CLTCL1 | - | - |
GRCh38 GRCh37 |
149 | 546 |
There are 181 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051944.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024