ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp11.3-11.23(chrX:44632305-47607180)x2
Germline
Classification
(1)
Likely pathogenic
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 | |||
KDM6A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
910 | 1106 | |
RP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
355 | 562 | |
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 | |
ZNF674 | No evidence available | No evidence available |
GRCh38 GRCh37 |
47 | 209 | |
ARAF | - | - |
GRCh38 GRCh37 |
30 | 178 | |
CDK16 | - | - |
GRCh38 GRCh37 |
43 | 193 | |
CHST7 | - | - |
GRCh38 GRCh37 |
20 | 181 | |
DIPK2B | - | - |
GRCh38 GRCh37 |
15 | 177 | |
DUSP21 | - | - |
GRCh38 GRCh37 |
7 | 161 |
There are 91 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
|
Likely pathogenic (1) |
|
Sep 27, 2013 | RCV000143089.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024