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 |
1554 | 1603 | |
ASPM | - | - |
GRCh38 GRCh37 |
1710 | 1757 | |
ATP6V1G3 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 30 | |
B3GALT2 | - | - |
GRCh38 GRCh37 |
- | 46 | |
BRINP3 | - | - |
GRCh38 GRCh37 |
48 | 74 | |
BRINP3-DT | - | - | - | GRCh38 | - | 8 |
C1orf53 | - | - | - |
GRCh38 GRCh37 |
3 | 24 |
CFH | - | - |
GRCh38 GRCh38 GRCh37 |
813 | 841 | |
CFHR1 | - | - |
GRCh38 GRCh37 |
86 | 127 | |
CFHR2 | - | - |
GRCh38 GRCh38 GRCh37 |
46 | 70 |
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 |
---|---|---|---|---|
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