ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq28(chrX:153566798-153748208)x4
Germline
Classification
(1)
not provided
no classification 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 | |||
FLNA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3099 | 3534 | |
GDI1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
98 | 325 | |
RPL10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
48 | 288 | |
ATP6AP1 | - | - |
GRCh38 GRCh37 |
246 | 475 | |
DNASE1L1 | - | - |
GRCh38 GRCh37 |
11 | 318 | |
EMD | - | - |
GRCh38 GRCh37 |
538 | 803 | |
FAM3A | - | - |
GRCh38 GRCh37 |
9 | 235 | |
FAM50A | - | - |
GRCh38 GRCh37 |
43 | 270 | |
LAGE3 | - | - |
GRCh38 GRCh37 |
31 | 289 | |
PLXNA3 | - | - |
GRCh38 GRCh37 |
454 | 678 |
There are 3 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 |
---|---|---|---|---|
not provided (1) |
|
- | RCV003313724.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024