ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)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 | |||
LHX4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
61 | 192 | |
ACBD6 | - | - |
GRCh38 GRCh37 |
18 | 144 | |
APOBEC4 | - | - |
GRCh38 GRCh37 |
- | 43 | |
ARPC5 | - | - |
GRCh38 GRCh37 |
5 | 36 | |
BRINP3 | - | - |
GRCh38 GRCh37 |
48 | 74 | |
C1orf21 | - | - | - |
GRCh38 GRCh37 |
4 | 29 |
CACNA1E | - | - |
GRCh38 GRCh37 |
1968 | 1999 | |
CEP350 | - | - |
GRCh38 GRCh37 |
165 | 199 | |
COLGALT2 | - | - |
GRCh38 GRCh37 |
52 | 80 | |
DHX9 | - | - |
GRCh38 GRCh37 |
37 | 66 |
There are 40 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) |
|
Apr 12, 2022 | RCV002473949.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022