ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21(chr22:21061979-21418457)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 |
24 | 424 | |
AIFM3 | - | - |
GRCh38 GRCh37 |
39 | 440 | |
LZTR1 | - | - |
GRCh38 GRCh37 |
2772 | 3262 | |
P2RX6 | - | - |
GRCh38 GRCh37 |
33 | 425 | |
PI4KA | - | - |
GRCh38 GRCh37 |
289 | 765 | |
SERPIND1 | - | - |
GRCh38 GRCh37 |
- | 464 | |
SLC7A4 | - | - |
GRCh38 GRCh37 |
64 | 453 | |
SNAP29 | - | - |
GRCh38 GRCh37 |
322 | 727 | |
THAP7 | - | - |
GRCh38 GRCh37 |
23 | 416 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 1, 2024 | RCV003885496.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024