ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq23(chrX:110359806-111260954)x3
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 | |||
CHRDL1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
52 | 218 | |
PAK3 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
165 | 336 | |
AMMECR1 | - | - |
GRCh38 GRCh37 |
43 | 218 | |
CAPN6 | - | - |
GRCh38 GRCh37 |
24 | 192 | |
CRIPTO3 | - | - | - | GRCh38 | - | 81 |
LOC126863302 | - | - | - | GRCh38 | - | 82 |
LOC130068558 | - | - | - | GRCh38 | - | 80 |
LOC130068559 | - | - | - | GRCh38 | - | 79 |
LOC130068560 | - | - | - | GRCh38 | - | 79 |
LOC130068561 | - | - | - | GRCh38 | - | 83 |
There are 2 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 9, 2013 | RCV000140082.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024