ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_155870179)_(156146788_?)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 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1821 | 2099 | |
ARHGEF2 | - | - |
GRCh38 GRCh37 |
60 | 101 | |
KHDC4 | - | - |
GRCh38 GRCh37 |
23 | 52 | |
LAMTOR2 | - | - |
GRCh38 GRCh37 |
52 | 88 | |
MEX3A | - | - |
GRCh38 GRCh37 |
9 | 53 | |
RAB25 | - | - |
GRCh38 GRCh37 |
18 | 47 | |
RIT1 | - | - |
GRCh38 GRCh37 |
306 | 331 | |
RXFP4 | - | - |
GRCh38 GRCh37 |
27 | 53 | |
SEMA4A | - | - |
GRCh38 GRCh37 |
573 | 607 | |
SSR2 | - | - |
GRCh38 GRCh37 |
6 | 34 |
There is 1 more gene 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) |
|
Feb 11, 2021 | RCV001992382.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024