ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_123504851)_(126163012_?)del
Germline
Classification
(2)
Uncertain significance
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 | |
CCDC15 | - | - | - |
GRCh38 GRCh37 |
55 | 118 |
CDON | - | - |
GRCh38 GRCh37 |
653 | 727 | |
DDX25 | - | - |
GRCh38 GRCh37 |
60 | 129 | |
EI24 | - | - |
GRCh38 GRCh37 |
- | 71 | |
ESAM | - | - |
GRCh38 GRCh37 |
31 | 98 | |
FAM118B | - | - |
GRCh38 GRCh37 |
4 | 88 | |
FEZ1 | - | - |
GRCh38 GRCh37 |
22 | 84 | |
FOXRED1 | - | - |
GRCh38 GRCh37 |
421 | 526 |
There are 48 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 8, 2022 | RCV003119756.2 | |
no classifications from unflagged records (1) |
|
- | RCV003119757.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023