ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp11.3-11.23(chrX:47437831-47845763)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 | |||
SYN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
487 | 658 | |
ZNF41 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
72 | 223 | |
ELK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
21 | 165 | |
ZNF81 | No evidence available | No evidence available |
GRCh38 GRCh37 |
53 | 207 | |
ARAF | - | - |
GRCh38 GRCh37 |
30 | 178 | |
CFP | - | - |
GRCh38 GRCh37 |
173 | 318 | |
LINC01560 | - | - | - |
GRCh38 GRCh37 |
1 | 152 |
LOC113875030 | - | - | - | GRCh38 | - | 75 |
LOC116309151 | - | - | - | GRCh38 | - | 73 |
LOC119369039 | - | - | - | GRCh38 | - | 76 |
There are 22 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) |
|
Sep 27, 2013 | RCV000143111.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024