ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q35.3(chr5:177926393-178613706)
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 | |||
ADAMTS2 | - | - |
GRCh38 GRCh38 GRCh37 |
1763 | 1818 | |
CLK4 | - | - |
GRCh38 GRCh37 |
21 | 60 | |
COL23A1 | - | - |
GRCh38 GRCh37 |
37 | 80 | |
GRM6 | - | - |
GRCh38 GRCh37 |
303 | 869 | |
ZFP2 | - | - | - |
GRCh38 GRCh37 |
44 | 83 |
ZNF354A | - | - |
GRCh38 GRCh37 |
31 | 70 | |
ZNF354B | - | - | - |
GRCh38 GRCh37 |
31 | 70 |
ZNF354C | - | - |
GRCh38 GRCh37 |
23 | 70 | |
ZNF454 | - | - | - |
GRCh38 GRCh37 |
22 | 581 |
ZNF879 | - | - | - |
GRCh38 GRCh37 |
31 | 77 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053538.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022