ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2
Germline
Classification
(1)
Pathogenic
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 |
1510 | 1755 | |
AVPR2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
304 | 565 | |
L1CAM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1240 | 1504 | |
MECP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1854 | 2181 | |
SLC6A8 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1075 | 1312 | |
CCNQ | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
51 | 279 | |
ARHGAP4 | - | - |
GRCh38 GRCh37 |
89 | 355 | |
ATP2B3 | - | - |
GRCh38 GRCh37 |
173 | 389 | |
BCAP31 | - | - |
GRCh38 GRCh37 |
167 | 417 | |
BGN | - | - |
GRCh38 GRCh37 |
341 | 560 |
There are 18 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 26, 2019 | RCV001007365.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022