ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q22(chr1:156034721-156240338)
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 | |||
LMNA | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1883 | 2171 | |
BGLAP | - | - |
GRCh38 GRCh37 |
- | 39 | |
MEX3A | - | - |
GRCh38 GRCh37 |
13 | 62 | |
PAQR6 | - | - |
GRCh38 GRCh37 |
35 | 64 | |
PMF1 | - | - |
GRCh38 GRCh37 |
- | 44 | |
PMF1-BGLAP | - | - | - |
GRCh38 GRCh37 |
- | 57 |
RAB25 | - | - |
GRCh38 GRCh37 |
24 | 53 | |
SEMA4A | - | - |
GRCh38 GRCh37 |
588 | 622 | |
SLC25A44 | - | - |
GRCh38 GRCh37 |
18 | 46 | |
SMG5 | - | - |
GRCh38 GRCh37 |
84 | 166 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053647.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022