ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_79891090)_(80333370_?)del
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 | |||
ASPSCR1 | - | - |
GRCh38 GRCh37 |
45 | 72 | |
CCDC57 | - | - | - |
GRCh38 GRCh37 |
62 | 92 |
CD7 | - | - |
GRCh38 GRCh37 |
17 | 46 | |
CENPX | - | - |
GRCh38 GRCh37 |
1 | 28 | |
CSNK1D | - | - |
GRCh38 GRCh37 |
14 | 44 | |
DCXR | - | - |
GRCh38 GRCh37 |
14 | 53 | |
DUS1L | - | - | - |
GRCh38 GRCh37 |
35 | 62 |
FASN | - | - |
GRCh38 GRCh37 |
2073 | 2153 | |
GPS1 | - | - |
GRCh38 GRCh37 |
22 | 54 | |
LRRC45 | - | - | - |
GRCh38 GRCh37 |
58 | 85 |
There are 9 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 13, 2022 | RCV003109579.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023