ClinVar Genomic variation as it relates to human health
NC_000020.10:g.(?_61987307)_(62329916_?)del
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 |
2141 | 2272 | |
EEF1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
499 | 660 | |
CHRNA4 | - | - |
GRCh38 GRCh37 |
877 | 1145 | |
FNDC11 | - | - | - |
GRCh38 GRCh37 |
4 | 83 |
GMEB2 | - | - |
GRCh38 GRCh37 |
23 | 106 | |
HELZ2 | - | - |
GRCh38 GRCh37 |
289 | 382 | |
PPDPF | - | - | - |
GRCh38 GRCh37 |
16 | 104 |
PTK6 | - | - |
GRCh38 GRCh37 |
46 | 127 | |
RTEL1 | - | - |
GRCh38 GRCh37 |
20 | 3326 | |
SRMS | - | - |
GRCh38 GRCh37 |
46 | 125 |
There are 2 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) |
|
Apr 20, 2021 | RCV001972747.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024