ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1
Germline
Classification
(1)
not provided
no classification 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 | |||
ANKRD11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2374 | 2538 | |
CDH15 | No evidence available | No evidence available |
GRCh38 GRCh37 |
220 | 334 | |
ACSF3 | - | - |
GRCh38 GRCh37 |
854 | 1048 | |
APRT | - | - |
GRCh38 GRCh37 |
128 | 241 | |
BANP | - | - |
GRCh38 GRCh37 |
21 | 86 | |
C16orf95 | - | - | - |
GRCh38 GRCh37 |
1 | 63 |
CA5A | - | - |
GRCh38 GRCh37 |
173 | 236 | |
CBFA2T3 | - | - |
GRCh38 GRCh37 |
31 | 124 | |
CDT1 | - | - |
GRCh38 GRCh37 |
377 | 476 | |
CTU2 | - | - |
GRCh38 GRCh37 |
219 | 310 |
There are 22 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 |
---|---|---|---|---|
not provided (1) |
|
- | RCV000509325.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023