ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp22.2(chrX:11111956-11413717)x2
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 | |||
HCCS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
62 | 247 | |
AMELX | - | - |
GRCh38 GRCh37 |
1 | 218 | |
ARHGAP6 | - | - |
GRCh38 GRCh37 |
65 | 303 | |
LOC121853051 | - | - | - | GRCh38 | - | 89 |
LOC125446271 | - | - | - | GRCh38 | - | 89 |
LOC130067939 | - | - | - | GRCh38 | - | 90 |
MIR548AX | - | - | - | GRCh38 | - | 90 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 27, 2011 | RCV000135605.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024