ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)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 | |||
LHX4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
61 | 194 | |
ABL2 | - | - |
GRCh38 GRCh37 |
47 | 74 | |
ACBD6 | - | - |
GRCh38 GRCh37 |
22 | 150 | |
ANGPTL1 | - | - |
GRCh38 GRCh37 |
- | 59 | |
ANKRD45 | - | - |
GRCh38 GRCh37 |
12 | 49 | |
ASTN1 | - | - |
GRCh38 GRCh37 |
90 | 117 | |
AXDND1 | - | - | - |
GRCh38 GRCh37 |
58 | 268 |
BRINP2 | - | - |
GRCh38 GRCh37 |
38 | 67 | |
CACNA1E | - | - |
GRCh38 GRCh37 |
1976 | 2008 | |
CACYBP | - | - |
GRCh38 GRCh37 |
7 | 39 |
There are 44 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) |
|
Mar 5, 2020 | RCV001258487.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023