ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)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 | |||
CHEK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
65 | 148 | |
ACRV1 | - | - |
GRCh38 GRCh37 |
- | 72 | |
ARHGEF12 | - | - |
GRCh38 GRCh37 |
67 | 107 | |
BLID | - | - |
GRCh38 GRCh37 |
- | 56 | |
BSX | - | - |
GRCh38 GRCh37 |
17 | 66 | |
CCDC15 | - | - | - |
GRCh38 GRCh37 |
54 | 117 |
CLMP | - | - |
GRCh38 GRCh37 |
30 | 87 | |
CRTAM | - | - |
GRCh38 GRCh37 |
20 | 72 | |
EI24 | - | - |
GRCh38 GRCh37 |
- | 71 | |
ESAM | - | - |
GRCh38 GRCh37 |
31 | 98 |
There are 247 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) |
|
Apr 30, 2011 | RCV000140070.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023