ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p13.2(chr5:36570605-37060917)x3
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 | |||
NIPBL | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
1729 | 1780 | |
LOC114004393 | - | - | - | GRCh38 | - | 9 |
LOC126807361 | - | - | - | GRCh38 | - | 9 |
LOC129993803 | - | - | - | GRCh38 | - | 9 |
LOC129993804 | - | - | - | GRCh38 | - | 9 |
LOC129993805 | - | - | - | GRCh38 | - | 9 |
LOC129993806 | - | - | - | GRCh38 | - | 9 |
LOC129993807 | - | - | - | GRCh38 | - | 9 |
LOC129993808 | - | - | - | GRCh38 | - | 9 |
LOC129993809 | - | - | - | GRCh38 | - | 9 |
There are 5 more genes 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 19, 2010 | RCV000134184.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023