ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q22(chr1:155834419-156434205)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 |
1810 | 2087 | |
ARHGEF2 | - | - |
GRCh38 GRCh37 |
52 | 92 | |
ARHGEF2-AS2 | - | - | - | GRCh38 | - | 5 |
BGLAP | - | - |
GRCh38 GRCh37 |
- | 33 | |
CCT3 | - | - |
GRCh38 GRCh37 |
26 | 47 | |
GLMP | - | - |
GRCh38 GRCh37 |
20 | 42 | |
GON4L | - | - |
GRCh38 GRCh37 |
26 | 51 | |
KHDC4 | - | - |
GRCh38 GRCh37 |
6 | 33 | |
LAMTOR2 | - | - |
GRCh38 GRCh37 |
51 | 86 | |
LOC110013312 | - | - | - | GRCh38 | - | 4 |
There are 82 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 24, 2012 | RCV000138885.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023