ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q34(chr13:111200986-114340331)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 |
204 | 324 | |
ADPRHL1 | - | - |
GRCh38 GRCh37 |
45 | 166 | |
ARHGEF7 | - | - |
GRCh38 GRCh37 |
41 | 163 | |
ATP11A | - | - |
GRCh38 GRCh37 |
127 | 257 | |
ATP11A-AS1 | - | - | - | GRCh38 | - | 48 |
ATP11AUN | - | - | - |
GRCh38 GRCh37 |
- | 119 |
ATP4B | - | - |
GRCh38 GRCh38 GRCh37 |
- | 143 | |
C13orf46 | - | - | - |
GRCh38 GRCh38 |
- | 47 |
CDC16 | - | - |
GRCh38 GRCh37 |
36 | 166 | |
CFAP97D2 | - | - | - | GRCh38 | - | 49 |
There are 141 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) |
|
Jan 9, 2013 | RCV000141232.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024