ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20q13.33(chr20:63448830-63673793)x1
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 | |
EEF1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
491 | 645 | |
FNDC11 | - | - | - |
GRCh38 GRCh37 |
4 | 79 |
GMEB2 | - | - |
GRCh38 GRCh37 |
22 | 101 | |
HELZ2 | - | - |
GRCh38 GRCh37 |
263 | 352 | |
KCNQ2-AS1 | - | - | - | GRCh38 | - | 27 |
LOC112694727 | - | - | - | GRCh38 | - | 20 |
LOC114004357 | - | - | - | GRCh38 | - | 19 |
LOC125387320 | - | - | - | GRCh38 | - | 20 |
LOC129391211 | - | - | - |
GRCh38 GRCh38 |
- | 27 |
There are 51 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052773.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023