ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq28(chrX:152228560-153146794)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 |
1507 | 1752 | |
BCAP31 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
165 | 415 | |
L1CAM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1234 | 1498 | |
SLC6A8 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1058 | 1295 | |
CCNQ | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
50 | 278 | |
ATP2B3 | - | - |
GRCh38 GRCh37 |
165 | 381 | |
BGN | - | - |
GRCh38 GRCh37 |
330 | 549 | |
DUSP9 | - | - |
GRCh38 GRCh37 |
26 | 246 | |
HAUS7 | - | - |
GRCh38 GRCh37 |
45 | 259 | |
IDH3G | - | - |
GRCh38 GRCh37 |
12 | 258 |
There are 12 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) |
|
- | RCV002284318.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024