ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q13.33(chr20:61152321-62915555)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 |
2141 | 2272 | |
ABHD16B | - | - | - |
GRCh38 GRCh37 |
- | 107 |
ARFGAP1 | - | - |
GRCh38 GRCh37 |
38 | 109 | |
ARFRP1 | - | - |
GRCh38 GRCh37 |
17 | 73 | |
BHLHE23 | - | - |
GRCh38 GRCh37 |
7 | 58 | |
BIRC7 | - | - |
GRCh38 GRCh37 |
26 | 92 | |
CHRNA4 | - | - |
GRCh38 GRCh37 |
877 | 1145 | |
COL20A1 | - | - |
GRCh38 GRCh37 |
126 | 197 | |
COL9A3 | - | - |
GRCh38 GRCh37 |
1266 | 1474 | |
DIDO1 | - | - |
GRCh38 GRCh37 |
105 | 156 |
There are 41 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 16, 2021 | RCV001007103.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022