ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq28(chrX:153813894-154383071)x2
Germline
Classification
(1)
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 | |||
AVPR2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
301 | 559 | |
FLNA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3067 | 3496 | |
L1CAM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1231 | 1492 | |
MECP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1827 | 2150 | |
NAA10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
147 | 421 | |
ARHGAP4 | - | - |
GRCh38 GRCh37 |
85 | 348 | |
EMD | - | - |
GRCh38 GRCh37 |
536 | 796 | |
HCFC1 | - | - |
GRCh38 GRCh37 |
1229 | 1525 | |
HCFC1-AS1 | - | - | - | GRCh38 | - | 119 |
IRAK1 | - | - |
GRCh38 GRCh37 |
57 | 337 |
There are 50 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 30, 2011 | RCV000140524.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024