ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q13.33(chr20:61716119-62416074)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 |
2143 | 2274 | |
EEF1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
503 | 664 | |
ARFGAP1 | - | - |
GRCh38 GRCh37 |
38 | 109 | |
ARFRP1 | - | - |
GRCh38 GRCh37 |
17 | 73 | |
BIRC7 | - | - |
GRCh38 GRCh37 |
26 | 92 | |
CHRNA4 | - | - |
GRCh38 GRCh37 |
879 | 1147 | |
COL20A1 | - | - |
GRCh38 GRCh37 |
126 | 197 | |
FNDC11 | - | - | - |
GRCh38 GRCh37 |
4 | 83 |
GMEB2 | - | - |
GRCh38 GRCh37 |
23 | 106 | |
HAR1A | - | - |
GRCh38 GRCh37 |
- | 58 |
There are 14 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) |
|
- | RCV003986136.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024