ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q12(chr17:32351496-34455576)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
RAD51D | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
26 | 1787 | |
AP2B1 | - | - |
GRCh38 GRCh37 |
20 | 30 | |
ASIC2 | - | - |
GRCh38 GRCh37 |
37 | 60 | |
C17orf50 | - | - | - |
GRCh38 GRCh37 |
- | 13 |
CCL1 | - | - |
GRCh38 GRCh37 |
2 | 16 | |
CCL11 | - | - |
GRCh38 GRCh37 |
11 | 26 | |
CCL13 | - | - |
GRCh38 GRCh37 |
5 | 19 | |
CCL14 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 12 | |
CCL15 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 16 | |
CCL16 | - | - |
GRCh38 GRCh38 GRCh37 |
6 | 13 |
There are 32 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) |
|
Jan 22, 2018 | RCV000683918.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023