ClinVar Genomic variation as it relates to human health
NC_000010.10:g.(?_90332640)_(91222335_?)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 | |||
ACTA2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
335 | 628 | |
FAS | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
405 | 456 | |
SLC16A12 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
66 | 100 | |
ANKRD22 | - | - | - |
GRCh38 GRCh37 |
13 | 40 |
CH25H | - | - |
GRCh38 GRCh37 |
18 | 47 | |
FAS-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 25 |
IFIT1 | - | - |
GRCh38 GRCh37 |
30 | 54 | |
IFIT1B | - | - | - |
GRCh38 GRCh37 |
33 | 57 |
IFIT2 | - | - |
GRCh38 GRCh37 |
28 | 53 | |
IFIT3 | - | - |
GRCh38 GRCh37 |
32 | 57 |
There are 9 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) |
|
Aug 25, 2023 | RCV004580419.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024