ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q26.32-26.33(chr3:178944833-179245494)
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 | |||
PIK3CA | No evidence available | No evidence available |
GRCh38 GRCh37 |
1239 | 1273 | |
GNB4 | - | - |
GRCh38 GRCh37 |
270 | 302 | |
KCNMB3 | - | - |
GRCh38 GRCh37 |
11 | 44 | |
MFN1 | - | - |
GRCh38 GRCh37 |
27 | 60 | |
ZNF639 | - | - |
GRCh38 GRCh37 |
14 | 47 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053390.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022