ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 |
2097 | 2217 | |
EEF1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
491 | 646 | |
ABHD16B | - | - |
GRCh38 GRCh37 |
- | 95 | |
ARFGAP1 | - | - |
GRCh38 GRCh37 |
37 | 107 | |
ARFRP1 | - | - |
GRCh38 GRCh37 |
15 | 67 | |
BHLHE23 | - | - |
GRCh38 GRCh37 |
6 | 56 | |
BIRC7 | - | - |
GRCh38 GRCh37 |
22 | 87 | |
C20orf181 | - | - | - | GRCh38 | - | 17 |
C20orf204 | - | - | - | GRCh38 | - | 18 |
CHRNA4 | - | - |
GRCh38 GRCh37 |
872 | 1129 |
There are 240 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) |
|
Dec 30, 2009 | RCV000133842.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024