ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq28(chrX:153093501-153792322)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 | |||
AVPR2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
304 | 565 | |
FLNA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3092 | 3527 | |
IKBKG | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
120 | 415 | |
L1CAM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1239 | 1503 | |
MECP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1849 | 2176 | |
GDI1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
98 | 325 | |
RPL10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
48 | 288 | |
ARHGAP4 | - | - |
GRCh38 GRCh37 |
89 | 355 | |
ATP6AP1 | - | - |
GRCh38 GRCh37 |
245 | 474 | |
DNASE1L1 | - | - |
GRCh38 GRCh37 |
11 | 318 |
There are 20 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) |
|
Feb 1, 2021 | RCV001834439.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022