ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q13.33(chr20:60882468-62045494)x1
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 |
2118 | 2249 | |
ADRM1 | - | - |
GRCh38 GRCh37 |
21 | 48 | |
ARFGAP1 | - | - |
GRCh38 GRCh37 |
37 | 108 | |
BHLHE23 | - | - |
GRCh38 GRCh37 |
6 | 57 | |
BIRC7 | - | - |
GRCh38 GRCh37 |
22 | 88 | |
CABLES2 | - | - |
GRCh38 GRCh37 |
32 | 72 | |
CHRNA4 | - | - |
GRCh38 GRCh37 |
872 | 1137 | |
COL20A1 | - | - |
GRCh38 GRCh37 |
113 | 184 | |
COL9A3 | - | - |
GRCh38 GRCh37 |
1258 | 1466 | |
DIDO1 | - | - |
GRCh38 GRCh37 |
90 | 141 |
There are 18 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) |
|
Jul 20, 2015 | RCV000207130.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024