ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q12.3(chr22:35753347-36593973)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
APOL1 | - | - |
GRCh38 GRCh37 |
150 | 177 | |
APOL2 | - | - |
GRCh38 GRCh37 |
36 | 61 | |
APOL3 | - | - |
GRCh38 GRCh37 |
39 | 63 | |
APOL4 | - | - |
GRCh38 GRCh37 |
10 | 33 | |
CACNG2 | - | - |
GRCh38 GRCh37 |
39 | 67 | |
EIF3D | - | - |
GRCh38 GRCh37 |
16 | 44 | |
FOXRED2 | - | - |
GRCh38 GRCh37 |
59 | 87 | |
LOC112695089 | - | - | - | GRCh38 | - | 11 |
LOC121853042 | - | - | - | GRCh38 | - | 6 |
LOC125446226 | - | - | - | GRCh38 | - | 6 |
There are 35 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052854.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023