ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q14.3-21.1(chr13:52170957-57713087)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 | |||
ALG11 | - | - |
GRCh38 GRCh37 |
82 | 308 | |
ATP7B | - | - |
GRCh38 GRCh37 |
3041 | 3189 | |
CCDC70 | - | - | - |
GRCh38 GRCh37 |
- | 103 |
CKAP2 | - | - |
GRCh38 GRCh37 |
62 | 129 | |
CNMD | - | - |
GRCh38 GRCh37 |
26 | 97 | |
DHRS12 | - | - |
GRCh38 GRCh37 |
19 | 100 | |
HNRNPA1L2 | - | - | - |
GRCh38 GRCh37 |
25 | 94 |
LINC00558 | - | - | - |
GRCh38 GRCh37 |
1 | 67 |
NEK3 | - | - |
GRCh38 GRCh37 |
37 | 106 | |
NEK5 | - | - |
GRCh38 GRCh37 |
55 | 126 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 20, 2020 | RCV001270648.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023