ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)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 |
226 | 261 | |
GATA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1481 | 1516 | |
COL6A5 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
135 | 151 | |
A4GNT | - | - |
GRCh38 GRCh37 |
15 | 37 | |
ABTB1 | - | - |
GRCh38 GRCh37 |
34 | 49 | |
ACAD11 | - | - |
GRCh38 GRCh37 |
- | 59 | |
ACAD9 | - | - |
GRCh38 GRCh37 |
768 | 1035 | |
ACAD9-DT | - | - | - | GRCh38 | - | 11 |
ACKR4 | - | - |
GRCh38 GRCh37 |
- | 20 | |
ACP3 | - | - |
GRCh38 GRCh37 |
11 | 25 |
There are 476 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 19, 2013 | RCV000142010.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024