ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq28(chrX:152398094-153086545)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 | |||
ABCD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1522 | 1767 | |
SLC6A8 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1081 | 1318 | |
CCNQ | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
51 | 279 | |
ATP2B3 | - | - |
GRCh38 GRCh37 |
174 | 390 | |
BCAP31 | - | - |
GRCh38 GRCh37 |
168 | 418 | |
BGN | - | - |
GRCh38 GRCh37 |
341 | 560 | |
DUSP9 | - | - |
GRCh38 GRCh37 |
33 | 253 | |
HAUS7 | - | - |
GRCh38 GRCh37 |
48 | 262 | |
IDH3G | - | - |
GRCh38 GRCh37 |
13 | 259 | |
LOC100509091 | - | - | - |
GRCh37 GRCh37 |
- | 34 |
There are 10 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) |
|
Sep 28, 2018 | RCV000848454.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022