ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)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 | |
ANKRD10 | - | - | - |
GRCh38 GRCh37 |
15 | 127 |
ANKRD10-IT1 | - | - | - | GRCh37 | - | 108 |
ARHGEF7 | - | - |
GRCh38 GRCh37 |
41 | 163 | |
ATP11A | - | - |
GRCh38 GRCh37 |
128 | 258 | |
ATP11AUN | - | - | - |
GRCh38 GRCh37 |
- | 119 |
ATP4B | - | - |
GRCh38 GRCh38 GRCh37 |
- | 143 | |
CARS2 | - | - |
GRCh38 GRCh37 |
687 | 886 | |
CDC16 | - | - |
GRCh38 GRCh37 |
36 | 166 |
There are 28 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jul 15, 2015 | RCV000512069.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024