ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q34(chr13:112071769-115107733)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |
ATP11A | - | - |
GRCh38 GRCh37 |
127 | 257 | |
ATP11AUN | - | - | - |
GRCh38 GRCh37 |
- | 119 |
ATP4B | - | - |
GRCh38 GRCh38 GRCh37 |
- | 143 | |
CDC16 | - | - |
GRCh38 GRCh37 |
36 | 166 | |
CUL4A | - | - |
GRCh38 GRCh37 |
14 | 139 | |
DCUN1D2 | - | - | - |
GRCh38 GRCh37 |
20 | 143 |
F10 | - | - |
GRCh38 GRCh37 |
103 | 266 | |
F7 | - | - |
GRCh38 GRCh37 |
234 | 372 |
There are 15 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV004442810.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024