ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_155581953)_(156851434_?)del
Germline
Classification
(1)
Pathogenic
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 |
1826 | 2104 | |
ARHGEF2 | - | - |
GRCh38 GRCh37 |
60 | 101 | |
BCAN | - | - |
GRCh38 GRCh38 GRCh37 |
- | 83 | |
BGLAP | - | - |
GRCh38 GRCh37 |
- | 38 | |
CCT3 | - | - |
GRCh38 GRCh37 |
32 | 54 | |
CRABP2 | - | - |
GRCh38 GRCh37 |
11 | 29 | |
DAP3 | - | - |
GRCh38 GRCh37 |
28 | 84 | |
GLMP | - | - |
GRCh38 GRCh37 |
30 | 53 | |
GON4L | - | - |
GRCh38 GRCh37 |
26 | 52 | |
GPATCH4 | - | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 49 |
There are 37 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 |
---|---|---|---|---|
Pathogenic (1) |
|
May 5, 2021 | RCV001983077.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023