ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q22(chr1:155902621-156207096)x3
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 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1810 | 2087 | |
ARHGEF2 | - | - |
GRCh38 GRCh37 |
52 | 92 | |
KHDC4 | - | - |
GRCh38 GRCh37 |
6 | 33 | |
LAMTOR2 | - | - |
GRCh38 GRCh37 |
51 | 86 | |
MEX3A | - | - |
GRCh38 GRCh37 |
7 | 46 | |
PMF1 | - | - |
GRCh38 GRCh37 |
- | 36 | |
PMF1-BGLAP | - | - | - |
GRCh38 GRCh37 |
- | 44 |
RAB25 | - | - |
GRCh38 GRCh37 |
12 | 40 | |
RXFP4 | - | - |
GRCh38 GRCh37 |
22 | 47 | |
SEMA4A | - | - |
GRCh38 GRCh37 |
570 | 603 |
There are 3 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) |
|
- | RCV003986329.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024