ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)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 |
1832 | 2110 | |
ARHGEF2 | - | - |
GRCh38 GRCh37 |
62 | 103 | |
BCAN | - | - |
GRCh38 GRCh38 GRCh37 |
- | 91 | |
BGLAP | - | - |
GRCh38 GRCh37 |
- | 38 | |
CCT3 | - | - |
GRCh38 GRCh37 |
34 | 57 | |
GLMP | - | - |
GRCh38 GRCh37 |
36 | 59 | |
GON4L | - | - |
GRCh38 GRCh37 |
26 | 52 | |
GPATCH4 | - | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 54 |
HAPLN2 | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 50 | |
IQGAP3 | - | - | - |
GRCh38 GRCh38 GRCh37 |
164 | 186 |
There are 25 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) |
|
Sep 25, 2018 | RCV000848811.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023