ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq11.2(chrX:64145374-64905930)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 | |||
AMER1 | - | - |
GRCh38 GRCh37 |
438 | 572 | |
ASB12 | - | - |
GRCh38 GRCh37 |
23 | 155 | |
LOC130068366 | - | - | - | GRCh38 | - | 65 |
LOC130068367 | - | - | - | GRCh38 | - | 66 |
LOC130068368 | - | - | - | GRCh38 | - | 65 |
LOC130068369 | - | - | - | GRCh38 | - | 63 |
LOC130068370 | - | - | - | GRCh38 | - | 65 |
LOC130068371 | - | - | - | GRCh38 | - | 63 |
MTMR8 | - | - |
GRCh38 GRCh37 |
61 | 198 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000054195.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023