ClinVar Genomic variation as it relates to human health
NC_000020.10:g.(?_61978090)_(62324656_?)dup
Germline
Classification
(1)
Uncertain significance
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 |
2120 | 2251 | |
EEF1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
494 | 655 | |
CHRNA4 | - | - |
GRCh38 GRCh37 |
872 | 1137 | |
FNDC11 | - | - | - |
GRCh38 GRCh37 |
4 | 83 |
GMEB2 | - | - |
GRCh38 GRCh37 |
22 | 105 | |
HELZ2 | - | - |
GRCh38 GRCh37 |
264 | 357 | |
PPDPF | - | - | - |
GRCh38 GRCh37 |
15 | 103 |
PTK6 | - | - |
GRCh38 GRCh37 |
45 | 126 | |
RTEL1 | - | - |
GRCh38 GRCh37 |
20 | 3311 | |
SRMS | - | - |
GRCh38 GRCh37 |
42 | 121 |
There is 1 more gene 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, 2022 | RCV003107343.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023