ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.1-11.21(chr22:17570796-19695101)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ATP6V1E1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
141 | 216 | |
HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
100 | 481 | |
ADA2 | - | - |
GRCh38 GRCh37 |
503 | 582 | |
BCL2L13 | - | - |
GRCh38 GRCh37 |
36 | 107 | |
BID | - | - |
GRCh38 GRCh37 |
20 | 88 | |
C22orf39 | - | - | - |
GRCh38 GRCh37 |
- | 380 |
CDC45 | - | - |
GRCh38 GRCh37 |
285 | 667 | |
CECR2 | - | - |
GRCh38 GRCh37 |
17 | 87 | |
CECR3 | - | - | - |
GRCh38 GRCh37 |
1 | 76 |
CLDN5 | - | - |
GRCh38 GRCh37 |
12 | 392 |
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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 21, 2022 | RCV002473774.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022