ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20q13.33(chr20:62455231-63839491)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 | |
ARFGAP1 | - | - |
GRCh38 GRCh37 |
30 | 99 | |
ARFRP1 | - | - |
GRCh38 GRCh37 |
12 | 63 | |
BHLHE23 | - | - |
GRCh38 GRCh37 |
6 | 55 | |
BIRC7 | - | - |
GRCh38 GRCh37 |
14 | 78 | |
CHRNA4 | - | - |
GRCh38 GRCh37 |
870 | 1126 | |
COL20A1 | - | - |
GRCh38 GRCh37 |
77 | 146 | |
COL9A3 | - | - |
GRCh38 GRCh37 |
1248 | 1454 | |
CRMA | - | - | - | GRCh38 | - | 10 |
There are 175 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 | RCV000052768.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023