ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp11.3-11.23(chrX:46331758-46999539)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 | |||
RP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
357 | 567 | |
ZNF674 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
53 | 216 | |
CHST7 | - | - |
GRCh38 GRCh37 |
23 | 186 | |
JADE3 | - | - |
GRCh38 GRCh37 |
32 | 189 | |
KRBOX4 | - | - |
GRCh38 GRCh37 |
10 | 170 | |
RGN | - | - |
GRCh38 GRCh37 |
34 | 191 | |
SLC9A7 | - | - |
GRCh38 GRCh37 |
131 | 315 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 2, 2018 | RCV001007299.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022