ClinVar Genomic variation as it relates to human health
NC_000020.10:g.(?_61471874)_(62078210_?)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 | |||
KCNQ2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
2095 | 2214 | |
ARFGAP1 | - | - |
GRCh38 GRCh37 |
37 | 106 | |
BHLHE23 | - | - |
GRCh38 GRCh37 |
6 | 55 | |
BIRC7 | - | - |
GRCh38 GRCh37 |
22 | 86 | |
CHRNA4 | - | - |
GRCh38 GRCh37 |
872 | 1128 | |
COL20A1 | - | - |
GRCh38 GRCh37 |
113 | 182 | |
COL9A3 | - | - |
GRCh38 GRCh37 |
1252 | 1458 | |
DIDO1 | - | - |
GRCh38 GRCh37 |
90 | 139 | |
GID8 | - | - |
GRCh38 GRCh37 |
9 | 56 | |
HAR1A | - | - |
GRCh38 GRCh37 |
- | 56 |
There are 5 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 6, 2022 | RCV003113817.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023