ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3
Germline
Classification
(1)
Pathogenic
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 | |
BPESC1 | - | - | GRCh38 | - | 13 | |
CLSTN2 | - | - |
GRCh38 GRCh37 |
74 | 109 | |
COPB2 | - | - |
GRCh38 GRCh37 |
92 | 120 | |
COPB2-DT | - | - | - | GRCh38 | - | 159 |
FAIM | - | - |
GRCh38 GRCh37 |
14 | 46 | |
FOXL2NB | - | - | - |
GRCh38 GRCh37 |
11 | 45 |
LINC01391 | - | - | - | GRCh38 | - | 17 |
LOC112903839 | - | - | - | GRCh38 | - | 29 |
LOC112903840 | - | - | - | GRCh38 | - | 15 |
There are 31 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
|
Pathogenic (1) |
|
Jan 30, 2010 | RCV000136768.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024