ClinVar Genomic variation as it relates to human health
NC_000003.12:g.(?_37452365)_(38950372_?)del
Germline
Classification
(1)
Pathogenic
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 | |||
SCN5A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 3958 | |
SLC22A14 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
25 | - | |
ACAA1 | - | - |
GRCh38 GRCh37 |
23 | 41 | |
ACVR2B | - | - |
GRCh38 GRCh37 |
334 | - | |
ACVR2B-AS1 | - | - | - | GRCh38 | - | 16 |
CTDSPL | - | - |
GRCh38 GRCh38 GRCh37 |
9 | - | |
DLEC1 | - | - |
GRCh38 GRCh37 |
108 | - | |
EXOG | - | - |
GRCh38 GRCh37 |
18 | 37 | |
ITGA9 | - | - |
GRCh38 GRCh38 GRCh37 |
65 | 98 | |
ITGA9-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 18 |
There are 43 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 1, 2018 | RCV000823258.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023