ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_137781658)_(139258560_?)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 | |||
FOXL2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
235 | 270 | |
A4GNT | - | - |
GRCh38 GRCh37 |
23 | 45 | |
ARMC8 | - | - |
GRCh38 GRCh37 |
17 | 46 | |
CEP70 | - | - |
GRCh38 GRCh37 |
43 | 76 | |
COPB2 | - | - |
GRCh38 GRCh37 |
97 | 126 | |
DBR1 | - | - |
GRCh38 GRCh37 |
156 | 197 | |
DZIP1L | - | - |
GRCh38 GRCh37 |
215 | 236 | |
ESYT3 | - | - |
GRCh38 GRCh37 |
71 | 101 | |
FAIM | - | - |
GRCh38 GRCh37 |
16 | 48 | |
FOXL2NB | - | - | - |
GRCh38 GRCh37 |
14 | 48 |
There are 9 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 4, 2021 | RCV001920549.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024