ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q12.1(chr22:27972484-28760350)x1
Germline
Classification
(1)
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 | |||
CHEK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4050 | 4106 | |
HSCB | - | - |
GRCh38 GRCh37 |
25 | 59 | |
LOC110121419 | - | - | - | GRCh38 | - | 11 |
LOC112695074 | - | - | - | GRCh38 | - | 13 |
LOC125424413 | - | - | - | GRCh38 | - | 11 |
LOC125446207 | - | - | - | GRCh38 | - | 12 |
LOC126863114 | - | - | - | GRCh38 | - | 12 |
LOC126863115 | - | - | - | GRCh38 | - | 11 |
LOC130067164 | - | - | - | GRCh38 | - | 13 |
LOC130067165 | - | - | - | GRCh38 | - | 27 |
There are 5 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Nov 30, 2010 | RCV000135356.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023