ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q31.3(chr1:196670448-197898389)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ASPM | - | - |
GRCh38 GRCh37 |
1743 | 1791 | |
C1orf53 | - | - | - |
GRCh38 GRCh37 |
3 | 25 |
CFH | - | - |
GRCh38 GRCh38 GRCh37 |
847 | 876 | |
CFHR1 | - | - |
GRCh38 GRCh37 |
96 | 138 | |
CFHR2 | - | - |
GRCh38 GRCh38 GRCh37 |
52 | 77 | |
CFHR3 | - | - |
GRCh38 GRCh37 |
83 | 122 | |
CFHR4 | - | - |
GRCh38 GRCh38 GRCh37 |
106 | 141 | |
CFHR5 | - | - |
GRCh38 GRCh38 GRCh37 |
235 | 260 | |
CRB1 | - | - |
GRCh38 GRCh37 |
1948 | 1973 | |
DENND1B | - | - |
GRCh38 GRCh37 |
27 | 49 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 1, 2022 | RCV002511626.14 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 20, 2024