ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq24(chrX:120255501-120553935)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 | |||
CUL4B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
246 | 469 | |
LAMP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
710 | 880 | |
ATP1B4 | - | - |
GRCh38 GRCh37 |
30 | 199 | |
LOC126863312 | - | - | - | GRCh38 | - | 81 |
LOC130068622 | - | - | - | GRCh38 | - | 81 |
TMEM255A | - | - | - |
GRCh38 GRCh37 |
9 | 208 |
ZBTB33 | - | - |
GRCh38 GRCh37 |
- | 196 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Apr 4, 2013 | RCV000143266.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024