ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_155870169)_(156108907_?)dup
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 |
1810 | 2087 | |
ARHGEF2 | - | - |
GRCh38 GRCh37 |
52 | 92 | |
ARHGEF2-AS2 | - | - | - | GRCh38 | - | 5 |
KHDC4 | - | - |
GRCh38 GRCh37 |
6 | 33 | |
LAMTOR2 | - | - |
GRCh38 GRCh37 |
51 | 86 | |
LOC110121262 | - | - | - | GRCh38 | - | 4 |
LOC120893162 | - | - | - | GRCh38 | - | 8 |
LOC121725059 | - | - | - | GRCh38 | - | 4 |
LOC122128442 | - | - | - | GRCh38 | - | 4 |
LOC122128443 | - | - | - | GRCh38 | - | 18 |
There are 36 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 2, 2018 | RCV000817926.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023