ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1
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 | |||
ASH1L | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
520 | 547 | |
LMNA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1818 | 2095 | |
ADAM15 | - | - |
GRCh38 GRCh37 |
- | 85 | |
ADAR | - | - |
GRCh38 GRCh37 |
1231 | 1376 | |
ARHGEF2 | - | - |
GRCh38 GRCh37 |
59 | 99 | |
ATP8B2 | - | - |
GRCh38 GRCh37 |
36 | 57 | |
BCAN | - | - |
GRCh38 GRCh38 GRCh37 |
- | 82 | |
BGLAP | - | - |
GRCh38 GRCh37 |
- | 37 | |
CCT3 | - | - |
GRCh38 GRCh37 |
32 | 53 | |
CHRNB2 | - | - |
GRCh38 GRCh37 |
546 | 592 |
There are 77 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) |
|
- | RCV003986928.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024