ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(?_130911805)_(131302617_?)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 | |||
BBLN | - | - | - |
GRCh38 GRCh37 |
- | 39 |
CERCAM | - | - |
GRCh38 GRCh37 |
54 | 100 | |
CIZ1 | - | - |
GRCh38 GRCh37 |
339 | 434 | |
COQ4 | - | - |
GRCh38 GRCh37 |
268 | 330 | |
DNM1 | - | - |
GRCh38 GRCh37 |
609 | 898 | |
GLE1 | - | - |
GRCh38 GRCh37 |
394 | 711 | |
GOLGA2 | - | - |
GRCh38 GRCh37 |
85 | 125 | |
LCN2 | - | - |
GRCh38 GRCh37 |
25 | 64 | |
LOC101929270 | - | - | - | GRCh38 | - | 287 |
LOC113839516 | - | - | - | GRCh38 | - | 147 |
There are 35 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) |
|
Jan 18, 2024 | RCV004582035.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024