ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq13.1(chrX:69880987-70415042)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
EDA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
571 | 709 | |
ARR3 | - | - |
GRCh38 GRCh37 |
29 | 160 | |
AWAT1 | - | - |
GRCh38 GRCh37 |
13 | 143 | |
AWAT2 | - | - |
GRCh38 GRCh37 |
5 | 137 | |
DGAT2L6 | - | - |
GRCh38 GRCh37 |
25 | 154 | |
IGBP1 | - | - |
GRCh38 GRCh37 |
24 | 161 | |
KIF4A | - | - |
GRCh38 GRCh37 |
118 | 248 | |
LOC121853060 | - | - | - | GRCh38 | - | 64 |
LOC126863272 | - | - | - | GRCh38 | - | 64 |
LOC126863273 | - | - | - | GRCh38 | - | 64 |
There are 9 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000051136.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023