ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)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 | |
ACAD8 | - | - |
GRCh38 GRCh37 |
259 | 360 | |
ACRV1 | - | - |
GRCh38 GRCh37 |
- | 72 | |
ADAMTS15 | - | - |
GRCh38 GRCh37 |
72 | 153 | |
ADAMTS8 | - | - |
GRCh38 GRCh37 |
62 | 143 | |
APLP2 | - | - |
GRCh38 GRCh37 |
58 | 136 | |
ARHGAP32 | - | - |
GRCh38 GRCh37 |
155 | 242 | |
B3GAT1 | - | - |
GRCh38 GRCh37 |
14 | 111 | |
BARX2 | - | - |
GRCh38 GRCh37 |
17 | 93 | |
BLID | - | - |
GRCh38 GRCh37 |
- | 56 |
There are 100 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 1, 2014 | RCV000511283.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024