ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.2(chr22:42955615-43866280)x1
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 | |||
A4GALT | - | - |
GRCh38 GRCh37 |
94 | 139 | |
ARFGAP3 | - | - |
GRCh38 GRCh37 |
36 | 82 | |
ATP5MGL | - | - | - |
GRCh38 GRCh37 |
- | 49 |
BIK | - | - |
GRCh38 GRCh37 |
15 | 64 | |
CYB5R3 | - | - |
GRCh38 GRCh37 |
199 | 254 | |
MCAT | - | - |
GRCh38 GRCh37 |
27 | 81 | |
MPPED1 | - | - |
GRCh38 GRCh37 |
18 | 67 | |
PACSIN2 | - | - |
GRCh38 GRCh37 |
25 | 72 | |
POLDIP3 | - | - |
GRCh38 GRCh37 |
28 | 66 | |
SCUBE1 | - | - |
GRCh38 GRCh37 |
83 | 134 |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 1, 2021 | RCV001834501.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 17, 2022