ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp22.13(chrX:17751088-18863732)x3
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 | |||
CDKL5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1184 | 1938 | |
NHS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
523 | 706 | |
RS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
122 | 861 | |
BEND2 | - | - | - |
GRCh38 GRCh37 |
49 | 220 |
PPEF1 | - | - |
GRCh38 GRCh37 |
11 | 190 | |
RAI2 | - | - |
GRCh38 GRCh37 |
44 | 215 | |
SCML1 | - | - |
GRCh38 GRCh37 |
4 | 175 | |
SCML2 | - | - |
GRCh38 GRCh37 |
16 | 188 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 7, 2021 | RCV002474793.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022