ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3
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 |
2148 | 2279 | |
EEF1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
506 | 667 | |
ABHD16B | - | - |
GRCh38 GRCh37 |
- | 107 | |
ADRM1 | - | - |
GRCh38 GRCh37 |
23 | 50 | |
ARFGAP1 | - | - |
GRCh38 GRCh37 |
38 | 109 | |
ARFRP1 | - | - |
GRCh38 GRCh37 |
17 | 73 | |
BHLHE23 | - | - |
GRCh38 GRCh37 |
7 | 58 | |
BIRC7 | - | - |
GRCh38 GRCh37 |
26 | 92 | |
C20orf181 | - | - | - | GRCh38 | - | 17 |
C20orf204 | - | - | - | GRCh38 | - | 18 |
There are 304 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Sep 21, 2012 | RCV000139100.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024