ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q22.3-23(chr3:138529348-139056446)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 |
232 | 267 | |
CEP70 | - | - |
GRCh38 GRCh37 |
35 | 68 | |
FAIM | - | - |
GRCh38 GRCh37 |
14 | 46 | |
FOXL2NB | - | - | - |
GRCh38 GRCh37 |
11 | 45 |
LINC01391 | - | - | - | GRCh38 | - | 17 |
LOC115995523 | - | - | - | GRCh38 | - | 17 |
LOC121048712 | - | - | - | GRCh38 | - | 17 |
LOC121048713 | - | - | - | GRCh38 | - | 17 |
LOC123038192 | - | - | - | GRCh38 | - | 17 |
LOC123038193 | - | - | - | GRCh38 | - | 17 |
There are 14 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Dec 16, 2011 | RCV000138018.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024