ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21(chr22:20732808-21465659)
Germline
Classification
(1)
Likely pathogenic
no assertion criteria provided
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 | |
KLHL22 | - | - |
GRCh38 GRCh37 |
23 | 389 | |
LZTR1 | - | - |
GRCh38 GRCh37 |
2769 | 3259 | |
MED15 | - | - |
GRCh38 GRCh37 |
41 | 410 | |
P2RX6 | - | - |
GRCh38 GRCh37 |
33 | 425 | |
PI4KA | - | - |
GRCh38 GRCh37 |
289 | 765 | |
SCARF2 | - | - |
GRCh38 GRCh37 |
178 | 543 | |
SERPIND1 | - | - |
GRCh38 GRCh37 |
- | 464 | |
SLC7A4 | - | - |
GRCh38 GRCh37 |
64 | 453 |
There are 3 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV002280734.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 03, 2022