ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)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 |
235 | 356 | |
ABHD13 | - | - | - |
GRCh38 GRCh37 |
22 | 140 |
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 |
140 | 272 | |
ATP11A-AS1 | - | - | - | GRCh38 | - | 48 |
There are 278 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) |
|
Dec 22, 2010 | RCV000050922.10 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024