ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p22.2-22.1(chr7:4412278-4933853)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 | |||
AP5Z1 | - | - |
GRCh38 GRCh37 |
1023 | 1087 | |
FOXK1 | - | - |
GRCh38 GRCh37 |
39 | 90 | |
MMD2 | - | - |
GRCh38 GRCh37 |
22 | 68 | |
PAPOLB | - | - |
GRCh38 GRCh37 |
- | 86 | |
RADIL | - | - |
GRCh38 GRCh37 |
103 | 192 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Mar 5, 2015 | RCV000510795.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024