ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3
Germline
Classification
(1)
Uncertain significance
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 |
2099 | 2219 | |
ABHD16B | - | - | - |
GRCh38 GRCh37 |
- | 95 |
ADRM1 | - | - |
GRCh38 GRCh37 |
21 | 47 | |
ARFGAP1 | - | - |
GRCh38 GRCh37 |
37 | 107 | |
ARFRP1 | - | - |
GRCh38 GRCh37 |
15 | 67 | |
BHLHE23 | - | - |
GRCh38 GRCh37 |
6 | 56 | |
BIRC7 | - | - |
GRCh38 GRCh37 |
22 | 87 | |
CABLES2 | - | - |
GRCh38 GRCh37 |
32 | 71 | |
CHRNA4 | - | - |
GRCh38 GRCh37 |
872 | 1129 | |
COL20A1 | - | - |
GRCh38 GRCh37 |
113 | 183 |
There are 55 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 3, 2022 | RCV002473575.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022