ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q41(chr1:220262511-220346373)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 | |||
BPNT1 | - | - |
GRCh38 GRCh37 |
12 | 49 | |
IARS2 | - | - |
GRCh38 GRCh37 |
479 | 540 | |
MIR194-1 | - | - |
GRCh38 GRCh37 |
- | 36 | |
MIR215 | - | - |
GRCh38 GRCh37 |
- | 36 | |
RAB3GAP2 | - | - |
GRCh38 GRCh37 |
725 | 762 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 29, 2017 | RCV000684703.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022