ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp11.22-11.21(chrX:54123342-55013132)x2
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 | |||
FGD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
320 | 517 | |
FAM120C | - | - |
GRCh38 GRCh37 |
29 | 175 | |
GNL3L | - | - |
GRCh38 GRCh37 |
41 | 175 | |
ITIH6 | - | - | - |
GRCh38 GRCh37 |
103 | 235 |
MAGED2 | - | - |
GRCh38 GRCh37 |
110 | 242 | |
PFKFB1 | - | - |
GRCh38 GRCh37 |
23 | 155 | |
SNORA11 | - | - |
GRCh38 GRCh37 |
- | 132 | |
TRO | - | - |
GRCh38 GRCh37 |
62 | 194 | |
TSR2 | - | - |
GRCh38 GRCh37 |
40 | 237 | |
WNK3 | - | - |
GRCh38 GRCh37 |
114 | 253 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 9, 2023 | RCV003483960.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024