ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p34.3-34.2(chr1:40097132-40236108)x3
Germline
Classification
(1)
not provided
no classification 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 | |||
BMP8B | - | - |
GRCh38 GRCh37 |
33 | 100 | |
HEYL | - | - |
GRCh38 GRCh37 |
31 | 44 | |
HPCAL4 | - | - |
GRCh38 GRCh37 |
10 | 24 | |
NT5C1A | - | - |
GRCh38 GRCh37 |
20 | 37 | |
OXCT2 | - | - |
GRCh38 GRCh37 |
- | 52 | |
PPIE | - | - |
GRCh38 GRCh37 |
17 | 45 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV000709854.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022