ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q31.3(chr1:195514309-197896494)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 | |||
ASPM | - | - |
GRCh38 GRCh37 |
1707 | 1754 | |
CFH | - | - |
GRCh38 GRCh38 GRCh37 |
809 | 837 | |
CFHR1 | - | - |
GRCh38 GRCh37 |
86 | 127 | |
CFHR2 | - | - |
GRCh38 GRCh38 GRCh37 |
46 | 70 | |
CFHR3 | - | - |
GRCh38 GRCh37 |
71 | 109 | |
CFHR4 | - | - |
GRCh38 GRCh38 GRCh37 |
86 | 120 | |
CFHR5 | - | - |
GRCh38 GRCh38 GRCh37 |
219 | 243 | |
CRB1 | - | - |
GRCh38 GRCh37 |
1911 | 1935 | |
DENND1B | - | - |
GRCh38 GRCh37 |
23 | 44 | |
F13B | - | - |
GRCh38 GRCh38 GRCh37 |
111 | 133 |
There are 28 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 30, 2009 | RCV000135432.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024