ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)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 | |||
FGD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
329 | 528 | |
PHF8 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
196 | 347 | |
KLF8 | No evidence available | No evidence available |
GRCh38 GRCh37 |
30 | 161 | |
ALAS2 | - | - |
GRCh38 GRCh37 |
197 | 401 | |
APEX2 | - | - |
GRCh38 GRCh37 |
30 | 162 | |
FAAH2 | - | - |
GRCh38 GRCh37 |
71 | 229 | |
FAM120C | - | - |
GRCh38 GRCh37 |
30 | 180 | |
FOXR2 | - | - |
GRCh38 GRCh37 |
23 | 152 | |
GNL3L | - | - |
GRCh38 GRCh37 |
42 | 177 | |
ITIH6 | - | - | - |
GRCh38 GRCh37 |
121 | 254 |
There are 85 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jul 5, 2011 | RCV000137412.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024