ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q25.1(chr1:173750496-174538509)
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
CENPL | - | - |
GRCh38 GRCh37 |
20 | 66 | |
DARS2 | - | - |
GRCh38 GRCh37 |
398 | 446 | |
GAS5 | - | - |
GRCh38 GRCh37 |
- | 44 | |
GPR52 | - | - |
GRCh38 GRCh37 |
- | 50 | |
KLHL20 | - | - |
GRCh38 GRCh37 |
18 | 59 | |
RABGAP1L | - | - |
GRCh38 GRCh37 |
43 | 98 | |
RC3H1 | - | - |
GRCh38 GRCh37 |
43 | 105 | |
SERPINC1 | - | - |
GRCh38 GRCh37 |
370 | 429 | |
ZBTB37 | - | - | - |
GRCh38 GRCh37 |
25 | 78 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053747.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023