ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q24.1-24.2(chr15:75039267-75268029)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 | |||
COX5A | - | - |
GRCh38 GRCh37 |
13 | 63 | |
CPLX3 | - | - |
GRCh38 GRCh37 |
14 | 56 | |
CSK | - | - |
GRCh38 GRCh37 |
4 | 54 | |
CYP1A2 | - | - |
GRCh38 GRCh37 |
28 | 71 | |
FAM219B | - | - | - |
GRCh38 GRCh37 |
25 | 73 |
LMAN1L | - | - |
GRCh38 GRCh37 |
41 | 83 | |
MPI | - | - |
GRCh38 GRCh37 |
509 | 559 | |
RPP25 | - | - |
GRCh38 GRCh37 |
22 | 64 | |
SCAMP2 | - | - |
GRCh38 GRCh37 |
18 | 61 | |
ULK3 | - | - |
GRCh38 GRCh37 |
46 | 89 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 10, 2019 | RCV001006710.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022