ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3
Germline
Classification
(1)
Pathogenic
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 | |||
ASH1L | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
476 | 501 | |
LMNA | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1750 | 2020 | |
ADAM15 | - | - |
GRCh38 GRCh37 |
- | 62 | |
ADAM15-EFNA4 | - | - | - | GRCh38 | - | 80 |
ADAR | - | - |
GRCh38 GRCh37 |
1228 | 1370 | |
ARHGEF11 | - | - |
GRCh38 GRCh37 |
33 | 62 | |
ARHGEF2 | - | - |
GRCh38 GRCh37 |
51 | 89 | |
ARHGEF2-AS2 | - | - | - | GRCh38 | - | 5 |
ASH1L-AS1 | - | - | - | GRCh38 | - | 3 |
BCAN | - | - |
GRCh38 GRCh38 GRCh37 |
- | 60 |
There are 289 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 19, 2013 | RCV000139902.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023