ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21(chr22:21062134-21465662)x3
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 | |||
CRKL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
27 | 430 | |
AIFM3 | - | - |
GRCh38 GRCh37 |
42 | 446 | |
LZTR1 | - | - |
GRCh38 GRCh37 |
3166 | 3677 | |
P2RX6 | - | - |
GRCh38 GRCh37 |
37 | 432 | |
PI4KA | - | - |
GRCh38 GRCh37 |
306 | 788 | |
SERPIND1 | - | - |
GRCh38 GRCh37 |
- | 470 | |
SLC7A4 | - | - |
GRCh38 GRCh37 |
69 | 461 | |
SNAP29 | - | - |
GRCh38 GRCh37 |
324 | 732 | |
THAP7 | - | - |
GRCh38 GRCh37 |
26 | 422 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 21, 2021 | RCV002474713.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022