ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq26.2-26.3(chrX:133107292-134142245)
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 | |||
GPC3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
941 | 1122 | |
HPRT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
229 | 425 | |
PHF6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
189 | 364 | |
CCDC160 | - | - | - |
GRCh38 GRCh37 |
17 | 190 |
MIR106A | - | - |
GRCh38 GRCh37 |
- | 173 | |
MIR19B2 | - | - |
GRCh38 GRCh37 |
- | 173 | |
MIR424 | - | - |
GRCh38 GRCh37 |
- | 172 | |
MIR503 | - | - |
GRCh38 GRCh37 |
- | 172 | |
MOSPD1 | - | - |
GRCh38 GRCh37 |
6 | 180 | |
PABIR2 | - | - | - |
GRCh38 GRCh37 |
12 | 186 |
There are 3 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053187.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022