ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q21.1(chr15:45092835-45433283)
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 | |||
AFG2B | - | - |
GRCh38 GRCh37 |
81 | 115 | |
C15orf48 | - | - |
GRCh38 GRCh37 |
1 | 24 | |
DUOX1 | - | - |
GRCh38 GRCh37 |
117 | 142 | |
DUOX2 | - | - |
GRCh38 GRCh37 |
1898 | 1925 | |
DUOXA1 | - | - |
GRCh38 GRCh37 |
29 | 67 | |
DUOXA2 | - | - |
GRCh38 GRCh37 |
60 | 99 | |
GATM | - | - |
GRCh38 GRCh37 |
507 | 594 | |
LOC130056981 | - | - | - | GRCh38 | - | 6 |
LOC130056982 | - | - | - | GRCh38 | - | 5 |
LOC130056983 | - | - | - | GRCh38 | - | 5 |
There are 23 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003223576.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 29, 2024