ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq28(chrX:155348480-156003242)x3
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 | |||
TMLHE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
63 | 287 | |
VAMP7 | No evidence available | No evidence available |
GRCh38 GRCh38 |
8 | 127 | |
F8A2 | - | - | - |
GRCh38 GRCh37 |
- | 215 |
F8A3 | - | - | - |
GRCh38 GRCh37 |
- | 213 |
H2AB2 | - | - |
GRCh38 GRCh37 |
- | 215 | |
H2AB3 | - | - |
GRCh38 GRCh37 |
- | 214 | |
IL9R | - | - |
GRCh38 GRCh38 |
12 | 120 | |
LOC101927830 | - | - | - | GRCh38 | - | 108 |
LOC106146151 | - | - | - | GRCh38 | - | 105 |
LOC106146152 | - | - | - | GRCh38 | - | 106 |
There are 7 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
|
Uncertain significance (1) |
|
May 14, 2012 | RCV000138670.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024