ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21(chr22:20728956-21465662)x3
Germline
Classification
(1)
Uncertain significance
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 |
23 | 416 | |
AIFM3 | - | - |
GRCh38 GRCh37 |
25 | 419 | |
KLHL22 | - | - |
GRCh38 GRCh37 |
17 | 375 | |
LZTR1 | - | - |
GRCh38 GRCh37 |
2769 | 3252 | |
MED15 | - | - |
GRCh38 GRCh37 |
30 | 391 | |
P2RX6 | - | - |
GRCh38 GRCh37 |
22 | 407 | |
PI4KA | - | - |
GRCh38 GRCh37 |
287 | 752 | |
SCARF2 | - | - |
GRCh38 GRCh37 |
161 | 518 | |
SERPIND1 | - | - |
GRCh38 GRCh37 |
- | 453 | |
SLC7A4 | - | - |
GRCh38 GRCh37 |
44 | 426 |
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 |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV001030055.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2023