ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1
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 | |||
CHEK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
67 | 150 | |
ACAD8 | - | - |
GRCh38 GRCh37 |
260 | 361 | |
ACRV1 | - | - |
GRCh38 GRCh37 |
- | 72 | |
ADAMTS15 | - | - |
GRCh38 GRCh37 |
79 | 160 | |
ADAMTS8 | - | - |
GRCh38 GRCh37 |
65 | 146 | |
APLP2 | - | - |
GRCh38 GRCh37 |
68 | 146 | |
ARHGAP32 | - | - |
GRCh38 GRCh37 |
169 | 256 | |
B3GAT1 | - | - |
GRCh38 GRCh37 |
17 | 114 | |
BARX2 | - | - |
GRCh38 GRCh37 |
20 | 96 | |
BLID | - | - |
GRCh38 GRCh37 |
- | 59 |
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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000239781.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023