ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)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 |
226 | 261 | |
ATR | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3092 | 3184 | |
COL6A5 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
135 | 151 | |
A4GNT | - | - |
GRCh38 GRCh37 |
15 | 37 | |
ACAD11 | - | - |
GRCh38 GRCh37 |
- | 59 | |
ACKR4 | - | - |
GRCh38 GRCh37 |
- | 20 | |
ACP3 | - | - |
GRCh38 GRCh37 |
11 | 25 | |
ALG1L2 | - | - | - |
GRCh38 GRCh37 |
11 | 37 |
AMOTL2 | - | - |
GRCh38 GRCh37 |
53 | 71 | |
ANAPC13 | - | - |
GRCh38 GRCh37 |
4 | 20 |
There are 337 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000136558.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 28, 2023