ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q21.33-22.1(chr13:69200998-75160653)
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 | |||
ATXN8OS | - | - |
GRCh38 GRCh37 |
11 | 108 | |
BORA | - | - |
GRCh38 GRCh37 |
29 | 103 | |
DACH1 | - | - |
GRCh38 GRCh37 |
39 | 104 | |
DIS3 | - | - |
GRCh38 GRCh37 |
61 | 141 | |
KLF12 | - | - |
GRCh38 GRCh37 |
18 | 91 | |
KLF5 | - | - |
GRCh38 GRCh37 |
30 | 101 | |
KLHL1 | - | - |
GRCh38 GRCh37 |
46 | 137 | |
LINC00402 | - | - | - |
GRCh38 GRCh37 |
- | 66 |
LOC100288208 | - | - | - |
GRCh38 GRCh37 |
- | 66 |
MZT1 | - | - |
GRCh38 GRCh37 |
6 | 74 |
There is 1 more gene 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) |
|
Mar 1, 2022 | RCV002053066.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023