ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p31.1(chr1:80621564-82040802)x1
Germline
Classification
(1)
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 | |||
ADGRL2 | - | - |
GRCh38 GRCh37 |
102 | 118 | |
LINC01781 | - | - | - | GRCh38 | - | 4 |
LOC101927434 | - | - | - |
GRCh38 GRCh37 |
- | 14 |
LOC120893143 | - | - | - | GRCh38 | - | 4 |
LOC121725034 | - | - | - | GRCh38 | - | 3 |
LOC129930815 | - | - | - | GRCh38 | - | 4 |
LOC129930816 | - | - | - | GRCh38 | - | 3 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Benign (1) |
|
Oct 19, 2010 | RCV000136991.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024