ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
ATP1A2 | - | - |
GRCh38 GRCh37 |
1199 | 1311 | |
ATP1A4 | - | - |
GRCh38 GRCh37 |
62 | 80 | |
CASQ1 | - | - |
GRCh38 GRCh37 |
297 | 311 | |
CD244 | - | - |
GRCh38 GRCh37 |
24 | 41 | |
CD48 | - | - |
GRCh38 GRCh37 |
21 | 35 | |
CD84 | - | - |
GRCh38 GRCh37 |
1 | 34 | |
CFAP45 | - | - |
GRCh38 GRCh37 |
48 | 66 | |
COPA | - | - |
GRCh38 GRCh37 |
724 | 737 | |
DCAF8 | - | - |
GRCh38 GRCh37 |
43 | 56 | |
DCAF8-DT | - | - | - |
GRCh38 GRCh37 |
- | 12 |
There are 23 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) |
|
Jan 24, 2018 | RCV000846649.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022