ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)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 | |||
CDC73 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1554 | 1603 | |
LHX4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
61 | 190 | |
ABL2 | - | - |
GRCh38 GRCh37 |
47 | 74 | |
ACBD6 | - | - |
GRCh38 GRCh37 |
18 | 142 | |
APOBEC4 | - | - |
GRCh38 GRCh37 |
- | 43 | |
ARPC5 | - | - |
GRCh38 GRCh37 |
5 | 36 | |
ASPM | - | - |
GRCh38 GRCh37 |
1707 | 1754 | |
ATP6V1G3 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 30 | |
AXDND1 | - | - | - |
GRCh38 GRCh37 |
57 | 264 |
B3GALT2 | - | - |
GRCh38 GRCh37 |
- | 46 |
There are 469 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) |
|
Aug 12, 2011 | RCV000053948.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023