ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21(chr22:20730144-21464764)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 | |||
CRKL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
25 | 428 | |
AIFM3 | - | - |
GRCh38 GRCh37 |
39 | 443 | |
KLHL22 | - | - |
GRCh38 GRCh37 |
23 | 392 | |
LZTR1 | - | - |
GRCh38 GRCh37 |
3150 | 3661 | |
MED15 | - | - |
GRCh38 GRCh37 |
42 | 414 | |
P2RX6 | - | - |
GRCh38 GRCh37 |
33 | 428 | |
PI4KA | - | - |
GRCh38 GRCh37 |
293 | 772 | |
SCARF2 | - | - |
GRCh38 GRCh37 |
178 | 546 | |
SERPIND1 | - | - |
GRCh38 GRCh37 |
- | 467 | |
SLC7A4 | - | - |
GRCh38 GRCh37 |
64 | 456 |
There are 4 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV004442797.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024