ClinVar Genomic variation as it relates to human health
NC_000014.8:g.(?_90429459)_(97347545_?)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 | |||
DICER1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6475 | 6513 | |
CALM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
98 | 163 | |
AK7 | - | - |
GRCh38 GRCh37 |
333 | 364 | |
ASB2 | - | - |
GRCh38 GRCh38 GRCh37 |
61 | 88 | |
ATG2B | - | - |
GRCh38 GRCh37 |
243 | 273 | |
ATXN3 | - | - |
GRCh38 GRCh37 |
30 | 74 | |
BDKRB1 | - | - |
GRCh38 GRCh37 |
33 | 59 | |
BDKRB2 | - | - |
GRCh38 GRCh37 |
31 | 57 | |
BTBD7 | - | - |
GRCh38 GRCh38 GRCh37 |
67 | 93 | |
C14orf132 | - | - | - |
GRCh38 GRCh37 |
3 | 28 |
There are 58 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) |
|
Jun 22, 2022 | RCV003109490.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024