ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq28(chrX:153549167-153858492)x2
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
3069 | 3498 | |
IKBKG | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
118 | 409 | |
GDI1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
93 | 317 | |
RPL10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
48 | 284 | |
ATP6AP1 | - | - |
GRCh38 GRCh37 |
243 | 469 | |
CTAG1A | - | - |
GRCh38 GRCh37 |
- | 218 | |
CTAG1B | - | - |
GRCh38 GRCh37 |
- | 214 | |
DNASE1L1 | - | - |
GRCh38 GRCh37 |
11 | 313 | |
EMD | - | - |
GRCh38 GRCh37 |
537 | 797 | |
FAM3A | - | - |
GRCh38 GRCh37 |
9 | 232 |
There are 8 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) |
|
Apr 4, 2023 | RCV003483990.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024