ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)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 |
65 | 148 | |
ACRV1 | - | - |
GRCh38 GRCh37 |
- | 72 | |
BLID | - | - |
GRCh38 GRCh37 |
- | 56 | |
BSX | - | - |
GRCh38 GRCh37 |
- | 66 | |
CCDC15 | - | - | - |
GRCh38 GRCh37 |
54 | 117 |
CDON | - | - |
GRCh38 GRCh37 |
652 | 726 | |
CLMP | - | - |
GRCh38 GRCh37 |
30 | 87 | |
CRTAM | - | - |
GRCh38 GRCh37 |
20 | 72 | |
DCPS | - | - |
GRCh38 GRCh37 |
30 | 142 | |
DDX25 | - | - |
GRCh38 GRCh37 |
60 | 129 |
There are 65 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) |
|
- | RCV003986915.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024