ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)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 |
59 | 139 | |
ACAD8 | - | - |
GRCh38 GRCh37 |
254 | 354 | |
ACRV1 | - | - |
GRCh38 GRCh37 |
- | 69 | |
ADAMTS15 | - | - |
GRCh38 GRCh37 |
61 | 141 | |
ADAMTS8 | - | - |
GRCh38 GRCh37 |
41 | 121 | |
APLP2 | - | - |
GRCh38 GRCh37 |
43 | 120 | |
ARHGAP32 | - | - |
GRCh38 GRCh37 |
130 | 216 | |
B3GAT1 | - | - |
GRCh38 GRCh37 |
11 | 107 | |
B3GAT1-DT | - | - | - | GRCh38 | 1 | 48 |
BARX2 | - | - |
GRCh38 GRCh37 |
10 | 85 |
There are 304 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 2, 2011 | RCV000138675.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023