ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_4802011)_(4850135_?)dup
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 | |||
C17orf107 | - | - | - |
GRCh38 GRCh37 |
- | 765 |
CHRNE | - | - |
GRCh38 GRCh37 |
340 | 1314 | |
GP1BA | - | - |
GRCh38 GRCh37 |
159 | 213 | |
LOC125177409 | - | - | - | GRCh38 | - | 15 |
LOC130060040 | - | - | - | GRCh38 | - | 101 |
LOC130060041 | - | - | - | GRCh38 | - | 117 |
LOC130060042 | - | - | - | GRCh38 | - | 17 |
LOC130060043 | - | - | - | GRCh38 | - | 18 |
LOC130060044 | - | - | - | GRCh38 | - | 35 |
LOC130060045 | - | - | - | GRCh38 | - | 16 |
There are 9 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 9, 2019 | RCV000795439.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023