ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p13.2(chr5:36886533-37331810)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 | |||
NIPBL | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
1729 | 1780 | |
CPLANE1 | - | - |
GRCh38 GRCh37 |
- | - | |
CPLANE1-AS1 | - | - | - | GRCh38 | - | 22 |
LOC129389274 | - | - | - | GRCh38 | - | 51 |
LOC129389275 | - | - | - | GRCh38 | - | 17 |
LOC129389276 | - | - | - | GRCh38 | - | 15 |
LOC129993813 | - | - | - | GRCh38 | - | 11 |
LOC129993814 | - | - | - | GRCh38 | - | 14 |
LOC129993815 | - | - | - | GRCh38 | - | 17 |
LOC129993816 | - | - | - | GRCh38 | - | 22 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000051704.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023