ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.21(chr22:18856290-21070117)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 | |||
CRKL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
25 | 428 | |
TBX1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
949 | 1341 | |
HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
106 | 490 | |
AIFM3 | - | - |
GRCh38 GRCh37 |
42 | 446 | |
ARVCF | - | - |
GRCh38 GRCh37 |
176 | 653 | |
C22orf39 | - | - | - |
GRCh38 GRCh37 |
- | 383 |
CCDC188 | - | - | - | GRCh38 | - | 172 |
CDC45 | - | - |
GRCh38 GRCh37 |
287 | 672 | |
CLDN5 | - | - |
GRCh38 GRCh37 |
15 | 398 | |
CLTCL1 | - | - |
GRCh38 GRCh37 |
167 | 565 |
There are 166 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 30, 2023 | RCV003444168.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024