ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q22(chr1:156037369-156463980)x3
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 | |||
LMNA | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1818 | 2095 | |
BGLAP | - | - |
GRCh38 GRCh37 |
- | 37 | |
CCT3 | - | - |
GRCh38 GRCh37 |
32 | 53 | |
GLMP | - | - |
GRCh38 GRCh37 |
30 | 52 | |
MEF2D | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 34 | |
MEX3A | - | - |
GRCh38 GRCh37 |
9 | 52 | |
MIR9-1 | - | - |
GRCh38 GRCh37 |
- | 21 | |
MIR9-1HG | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 23 | |
PAQR6 | - | - |
GRCh38 GRCh37 |
22 | 50 | |
PMF1 | - | - |
GRCh38 GRCh37 |
- | 36 |
There are 9 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 8, 2017 | RCV000846254.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023