ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp22.2(chrX:13568142-13833518)x2
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 | |||
OFD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
884 | 1185 | |
TRAPPC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
76 | 324 | |
EGFL6 | - | - |
GRCh38 GRCh37 |
39 | 218 | |
GPM6B | - | - |
GRCh38 GRCh37 |
11 | 187 | |
RAB9A | - | - |
GRCh38 GRCh37 |
12 | 189 | |
TCEANC | - | - | - |
GRCh38 GRCh37 |
11 | 188 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000240156.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022