ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q32.2(chr14:96641506-97154180)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 | |||
AK7 | - | - |
GRCh38 GRCh37 |
330 | 361 | |
ATG2B | - | - |
GRCh38 GRCh37 |
233 | 263 | |
BDKRB1 | - | - |
GRCh38 GRCh37 |
26 | 52 | |
BDKRB2 | - | - |
GRCh38 GRCh37 |
25 | 51 | |
GSKIP | - | - |
GRCh38 GRCh37 |
14 | 41 | |
PAPOLA | - | - |
GRCh38 GRCh37 |
23 | 47 | |
PAPOLA-DT | - | - | - |
GRCh38 GRCh37 |
- | 22 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 23, 2018 | RCV000683609.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022