ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq13.1(chrX:69917640-70638292)x2
Germline
Classification
(1)
Uncertain significance
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 | |||
MED12 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1649 | 1883 | |
NLGN3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
141 | 271 | |
ZMYM3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
98 | 228 | |
CXorf65 | - | - | - |
GRCh38 GRCh37 |
1 | 128 |
FOXO4 | - | - |
GRCh38 GRCh37 |
22 | 150 | |
GJB1 | - | - |
GRCh38 GRCh37 |
790 | 919 | |
IL2RG | - | - |
GRCh38 GRCh37 |
404 | 583 | |
ITGB1BP2 | - | - |
GRCh38 GRCh37 |
9 | 150 | |
NONO | - | - |
GRCh38 GRCh37 |
136 | 266 | |
SLC7A3 | - | - |
GRCh38 GRCh37 |
32 | 156 |
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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2021 | RCV001836485.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022