ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q34(chr13:110857896-114342258)x1
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 | |||
CHAMP1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
224 | 345 | |
ADPRHL1 | - | - |
GRCh38 GRCh37 |
50 | 172 | |
ANKRD10 | - | - | - |
GRCh38 GRCh37 |
23 | 136 |
ANKRD10-IT1 | - | - | - | GRCh37 | - | 109 |
ARHGEF7 | - | - |
GRCh38 GRCh37 |
44 | 167 | |
ARHGEF7-AS1 | - | - | - | GRCh38 | - | 43 |
ARHGEF7-AS2 | - | - | - | GRCh38 | - | 45 |
ATP11A | - | - |
GRCh38 GRCh37 |
137 | 268 | |
ATP11A-AS1 | - | - | - | GRCh38 | - | 48 |
ATP11AUN | - | - | - |
GRCh38 GRCh37 |
- | 120 |
There are 171 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
|
Pathogenic (1) |
|
Feb 25, 2013 | RCV000143102.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024