ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp22.33-22.2(chrX:4082541-12772302)x2
Germline
Classification
(1)
Likely 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 | |||
ANOS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
268 | 497 | |
HCCS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
62 | 247 | |
MID1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
344 | 594 | |
MSL3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
91 | 276 | |
NLGN4X | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
245 | 463 | |
STS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
121 | 498 | |
CLCN4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
580 | 751 | |
VCX3A | No evidence available | Dosage sensitivity unlikely |
GRCh38 GRCh37 |
5 | 321 | |
AMELX | - | - |
GRCh38 GRCh37 |
1 | 218 | |
ARHGAP6 | - | - |
GRCh38 GRCh37 |
65 | 303 |
There are 97 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Feb 18, 2011 | RCV000135636.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024