ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)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 |
1598 | 1652 | |
ASPM | - | - |
GRCh38 GRCh37 |
1733 | 1781 | |
ATP6V1G3 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 31 | |
B3GALT2 | - | - |
GRCh38 GRCh37 |
- | 51 | |
BRINP3 | - | - |
GRCh38 GRCh37 |
53 | 79 | |
BRINP3-DT | - | - | - | GRCh38 | - | 8 |
C1orf53 | - | - | - |
GRCh38 GRCh37 |
3 | 25 |
CFH | - | - |
GRCh38 GRCh38 GRCh37 |
831 | 860 | |
CFHR1 | - | - |
GRCh38 GRCh37 |
90 | 132 | |
CFHR2 | - | - |
GRCh38 GRCh38 GRCh37 |
47 | 72 |
There are 165 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) |
|
Sep 27, 2013 | RCV000135590.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024