ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)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 | |||
CDH15 | No evidence available | No evidence available |
GRCh38 GRCh37 |
248 | 367 | |
ACSF3 | - | - |
GRCh38 GRCh37 |
879 | 1080 | |
APRT | - | - |
GRCh38 GRCh37 |
131 | 250 | |
BANP | - | - |
GRCh38 GRCh37 |
31 | 99 | |
CA5A | - | - |
GRCh38 GRCh37 |
184 | 251 | |
CBFA2T3 | - | - |
GRCh38 GRCh37 |
54 | 158 | |
CDT1 | - | - |
GRCh38 GRCh37 |
394 | 500 | |
CTU2 | - | - |
GRCh38 GRCh37 |
253 | 348 | |
CYBA | - | - |
GRCh38 GRCh37 |
456 | 543 | |
GALNS | - | - |
GRCh38 GRCh37 |
1082 | 1375 |
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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000240062.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023