ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_247599252)_(248059833_?)dup
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 | |||
GCSAML | - | - | - |
GRCh38 GRCh37 |
3 | 106 |
NLRP3 | - | - |
GRCh38 GRCh38 GRCh37 |
965 | 1048 | |
OR11L1 | - | - | - |
GRCh38 GRCh37 |
18 | 112 |
OR13G1 | - | - |
GRCh38 GRCh37 |
23 | 108 | |
OR14A16 | - | - | - |
GRCh38 GRCh37 |
24 | 119 |
OR1C1 | - | - | - |
GRCh38 GRCh37 |
17 | 108 |
OR2B11 | - | - | - |
GRCh38 GRCh37 |
23 | 106 |
OR2C3 | - | - | - |
GRCh38 GRCh37 |
- | 98 |
OR2G2 | - | - | - |
GRCh38 GRCh37 |
- | 94 |
OR2G3 | - | - | - |
GRCh38 GRCh37 |
- | 102 |
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) |
|
Aug 4, 2023 | RCV001920559.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024