ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q34(chr13:111118651-114340331)x3
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 | |||
CHAMP1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
204 | 324 | |
ADPRHL1 | - | - |
GRCh38 GRCh37 |
45 | 166 | |
ARHGEF7 | - | - |
GRCh38 GRCh37 |
41 | 163 | |
ARHGEF7-AS1 | - | - | - | GRCh38 | - | 43 |
ATP11A | - | - |
GRCh38 GRCh37 |
128 | 258 | |
ATP11A-AS1 | - | - | - | GRCh38 | - | 48 |
ATP11AUN | - | - | - |
GRCh38 GRCh37 |
- | 119 |
ATP4B | - | - |
GRCh38 GRCh38 GRCh37 |
- | 143 | |
C13orf46 | - | - | - |
GRCh38 GRCh38 |
- | 47 |
CDC16 | - | - |
GRCh38 GRCh37 |
36 | 166 |
There are 150 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) |
|
Apr 14, 2011 | RCV000137378.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024