ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1
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 | |||
CDC73 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1569 | 1620 | |
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 | |
APOBEC4 | - | - |
GRCh38 GRCh37 |
- | 43 | |
ARPC5 | - | - |
GRCh38 GRCh37 |
5 | 36 | |
ASTN1 | - | - |
GRCh38 GRCh37 |
90 | 117 | |
AXDND1 | - | - | - |
GRCh38 GRCh37 |
58 | 268 |
B3GALT2 | - | - |
GRCh38 GRCh37 |
- | 48 |
There are 447 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 18, 2010 | RCV000134144.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024