ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_1470739)_(3768971_?)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 | |||
GNB1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
303 | 467 | |
SKI | No evidence available | No evidence available |
GRCh38 GRCh37 |
1089 | 1236 | |
TP73 | No evidence available | No evidence available |
GRCh38 GRCh37 |
58 | 170 | |
ACTRT2 | - | - |
GRCh38 GRCh37 |
30 | 170 | |
ARHGEF16 | - | - |
GRCh38 GRCh37 |
68 | 182 | |
CALML6 | - | - |
GRCh38 GRCh37 |
10 | 169 | |
CCDC27 | - | - | - |
GRCh38 GRCh37 |
65 | 165 |
CDK11A | - | - |
GRCh38 GRCh37 |
62 | 217 | |
CDK11B | - | - |
GRCh38 GRCh37 |
8 | 160 | |
CEP104 | - | - |
GRCh38 GRCh37 |
403 | 560 |
There are 30 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) |
|
Oct 3, 2023 | RCV004579073.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024