ClinVar Genomic variation as it relates to human health
NC_000019.9:g.(?_2430909)_(3121177_?)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 | |||
DIRAS1 | - | - |
GRCh38 GRCh37 |
6 | 29 | |
GADD45B | - | - |
GRCh38 GRCh37 |
5 | 33 | |
GNA11 | - | - |
GRCh38 GRCh37 |
327 | 355 | |
GNG7 | - | - |
GRCh38 GRCh37 |
3 | 31 | |
LMNB2 | - | - |
GRCh38 GRCh37 |
535 | 619 | |
SGTA | - | - |
GRCh38 GRCh37 |
13 | 36 | |
SLC39A3 | - | - |
GRCh38 GRCh37 |
41 | 64 | |
THOP1 | - | - |
GRCh38 GRCh37 |
60 | 83 | |
TLE2 | - | - |
GRCh38 GRCh37 |
54 | 78 | |
TLE5 | - | - |
GRCh38 GRCh37 |
5 | 29 |
There are 5 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) |
|
Sep 29, 2023 | RCV004581126.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024