ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q22(chr1:155489474-156196407)x3
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 | |||
ASH1L | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
589 | 616 | |
LMNA | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1844 | 2124 | |
ARHGEF2 | - | - |
GRCh38 GRCh37 |
62 | 103 | |
DAP3 | - | - |
GRCh38 GRCh37 |
32 | 89 | |
GON4L | - | - |
GRCh38 GRCh37 |
27 | 53 | |
KHDC4 | - | - |
GRCh38 GRCh37 |
27 | 56 | |
LAMTOR2 | - | - |
GRCh38 GRCh37 |
52 | 88 | |
MEX3A | - | - |
GRCh38 GRCh37 |
11 | 56 | |
MSTO1 | - | - |
GRCh38 GRCh37 |
164 | 189 | |
PMF1 | - | - |
GRCh38 GRCh37 |
- | 40 |
There are 10 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) |
|
Feb 23, 2022 | RCV002473771.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022