ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x3
Germline
Classification
(1)
Pathogenic
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 | |
LINC01637 | - | - | - | GRCh38 | - | 177 |
LOC112694767 | - | - | - | GRCh38 | - | 179 |
LOC121627930 | - | - | - | GRCh38 | - | 174 |
LOC121627931 | - | - | - | GRCh38 | - | 175 |
LOC129391266 | - | - | - | GRCh38 | - | 175 |
LOC129391267 | - | - | - | GRCh38 | - | 162 |
LOC130067003 | - | - | - | GRCh38 | - | 174 |
LOC130067004 | - | - | - | GRCh38 | - | 174 |
There are 26 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000148207.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024