ClinVar Genomic variation as it relates to human health
NC_000022.10:g.(?_24129357)_(24836024_?)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 | |||
SMARCB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1028 | 1165 | |
ADORA2A | - | - |
GRCh38 GRCh37 |
- | 124 | |
CABIN1 | - | - |
GRCh38 GRCh38 GRCh37 |
221 | 331 | |
DDT | - | - |
GRCh38 GRCh38 GRCh37 |
- | 108 | |
DDTL | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 110 |
DERL3 | - | - |
GRCh38 GRCh38 GRCh37 |
7 | 144 | |
GGT5 | - | - |
GRCh38 GRCh37 |
65 | 172 | |
GSTT1 | - | - |
GRCh38 GRCh37 |
5 | 74 | |
GSTT2 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 113 | |
GSTT2B | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 117 |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 20, 2021 | RCV001031059.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 24, 2022