ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q13.33(chr20:61510452-62315381)
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 |
2097 | 2217 | |
ARFGAP1 | - | - |
GRCh38 GRCh37 |
37 | 107 | |
BHLHE23 | - | - |
GRCh38 GRCh37 |
6 | 56 | |
BIRC7 | - | - |
GRCh38 GRCh37 |
22 | 87 | |
CHRNA4 | - | - |
GRCh38 GRCh37 |
872 | 1129 | |
COL20A1 | - | - |
GRCh38 GRCh37 |
113 | 183 | |
DIDO1 | - | - |
GRCh38 GRCh37 |
90 | 140 | |
EEF1A2 | - | - |
GRCh38 GRCh37 |
491 | 646 | |
FNDC11 | - | - | - |
GRCh38 GRCh37 |
4 | 80 |
GID8 | - | - |
GRCh38 GRCh37 |
9 | 57 |
There are 12 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) |
|
Mar 15, 2021 | RCV001352668.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022