ClinVar Genomic variation as it relates to human health
NC_000022.11:g.(?_18163926)_(21277123_?)del
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 |
- | 1293 | |
CRKL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
23 | 416 | |
HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
91 | 466 | |
AIFM3 | - | - |
GRCh38 GRCh37 |
25 | - | |
ARVCF | - | - |
GRCh38 GRCh37 |
136 | 602 | |
C22orf39 | - | - | - |
GRCh38 GRCh37 |
- | 374 |
CCDC188 | - | - | - | GRCh38 | - | 172 |
CDC45 | - | - |
GRCh38 GRCh37 |
- | - | |
CLDN5 | - | - |
GRCh38 GRCh37 |
10 | 384 | |
CLTCL1 | - | - |
GRCh38 GRCh37 |
128 | 513 |
There are 184 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) |
|
Mar 20, 2018 | RCV000754242.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024