ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q23.1(chr8:105380252-106481199)x3
Germline
Classification
(1)
Likely benign
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 | |||
ZFPM2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
69 | 366 | |
LOC110121208 | - | - | - | GRCh38 | - | 24 |
LOC113783881 | - | - | - | GRCh38 | - | 22 |
LOC126860469 | - | - | - | GRCh38 | - | 124 |
LOC126860470 | - | - | - | GRCh38 | - | 22 |
LOC126860471 | - | - | - | GRCh38 | - | 22 |
LOC130000957 | - | - | - | GRCh38 | - | 22 |
LOC130000958 | - | - | - | GRCh38 | - | 22 |
OXR1 | - | - |
GRCh38 GRCh37 |
71 | 122 | |
ZFPM2-AS1 | - | - | - | GRCh38 | - | 272 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Apr 5, 2012 | RCV000137805.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024