ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1
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 |
234 | 269 | |
COL6A5 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
196 | 212 | |
A4GNT | - | - |
GRCh38 GRCh37 |
23 | 45 | |
ACAD11 | - | - |
GRCh38 GRCh37 |
- | 76 | |
ACKR4 | - | - |
GRCh38 GRCh37 |
- | 20 | |
ACP3 | - | - |
GRCh38 GRCh37 |
31 | 45 | |
AMOTL2 | - | - |
GRCh38 GRCh37 |
68 | 86 | |
ANAPC13 | - | - |
GRCh38 GRCh37 |
4 | 20 | |
ARMC8 | - | - |
GRCh38 GRCh37 |
17 | 46 | |
ASTE1 | - | - |
GRCh38 GRCh37 |
25 | 47 |
There are 204 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) |
|
May 7, 2012 | RCV000139240.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024