ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q13.33(chr20:61826780-62660844)
Germline
Classification
(1)
Likely 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 | |
ABHD16B | - | - |
GRCh38 GRCh37 |
- | 94 | |
ARFGAP1 | - | - |
GRCh38 GRCh37 |
37 | 106 | |
ARFRP1 | - | - |
GRCh38 GRCh37 |
15 | 66 | |
BIRC7 | - | - |
GRCh38 GRCh37 |
22 | 86 | |
CHRNA4 | - | - |
GRCh38 GRCh37 |
872 | 1128 | |
COL20A1 | - | - |
GRCh38 GRCh37 |
113 | 182 | |
DNAJC5 | - | - |
GRCh38 GRCh37 |
386 | 443 | |
FNDC11 | - | - | - |
GRCh38 GRCh37 |
4 | 79 |
There are 19 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 1, 2021 | RCV001786550.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023