ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)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 | |||
KDM6A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
955 | 1152 | |
RP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
357 | 567 | |
SYN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
500 | 675 | |
ZNF41 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
78 | 231 | |
ELK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
24 | 170 | |
ZNF674 | No evidence available | No evidence available |
GRCh38 GRCh37 |
53 | 216 | |
ZNF81 | No evidence available | No evidence available |
GRCh38 GRCh37 |
56 | 212 | |
ARAF | - | - |
GRCh38 GRCh37 |
36 | 186 | |
CDK16 | - | - |
GRCh38 GRCh37 |
47 | 199 | |
CFP | - | - |
GRCh38 GRCh37 |
173 | 321 |
There are 25 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 26, 2023 | RCV003485287.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024