ClinVar Genomic variation as it relates to human health
NC_000006.11:g.(?_51930764)_(52906034_?)del
Germline
Classification
(1)
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 | |||
CILK1 | - | - |
GRCh38 GRCh37 |
195 | 207 | |
EFHC1 | - | - |
GRCh38 GRCh37 |
451 | 468 | |
GSTA1 | - | - |
GRCh38 GRCh37 |
17 | 30 | |
GSTA2 | - | - |
GRCh38 GRCh37 |
17 | 28 | |
GSTA3 | - | - |
GRCh38 GRCh37 |
18 | 30 | |
GSTA4 | - | - |
GRCh38 GRCh37 |
16 | 29 | |
GSTA5 | - | - |
GRCh38 GRCh37 |
16 | 28 | |
IL17A | - | - |
GRCh38 GRCh37 |
18 | 31 | |
IL17F | - | - |
GRCh38 GRCh37 |
144 | 157 | |
MCM3 | - | - |
GRCh38 GRCh37 |
54 | 67 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 27, 2020 | RCV001346439.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023