ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q31.2(chr9:106178482-107049249)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 | |||
ZNF462 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
361 | 430 | |
LINC01505 | - | - | - | GRCh38 | - | 20 |
LOC126860715 | - | - | - | GRCh38 | - | 21 |
LOC126860716 | - | - | - | GRCh38 | - | 21 |
LOC126860717 | - | - | - | GRCh38 | - | 21 |
LOC130002291 | - | - | - | GRCh38 | - | 21 |
LOC130002292 | - | - | - | GRCh38 | - | 20 |
LOC340512 | - | - | - | GRCh38 | - | 50 |
MIR8081 | - | - | - | GRCh38 | - | 20 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 16, 2011 | RCV000138016.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024