ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq28(chrX:153613883-155233731)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 | |||
F8 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
902 | 1172 | |
IKBKG | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
118 | 409 | |
RAB39B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
76 | 317 | |
DKC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
460 | 672 | |
GDI1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
91 | 315 | |
TMLHE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
59 | 279 | |
RPL10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
48 | 284 | |
ATP6AP1 | - | - |
GRCh38 GRCh37 |
243 | 469 | |
BRCC3 | - | - |
GRCh38 GRCh37 |
17 | 264 | |
CLIC2 | - | - |
GRCh38 GRCh37 |
29 | 271 |
There are 25 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) |
|
Jan 3, 2022 | RCV002472481.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022