ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p13.2(chr5:37054860-37586108)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 |
1747 | 1798 | |
CPLANE1 | - | - |
GRCh38 GRCh37 |
2058 | 2169 | |
CPLANE1-AS1 | - | - | - | GRCh38 | - | 22 |
LOC121725201 | - | - | - | GRCh38 | - | 13 |
LOC126807362 | - | - | - | GRCh38 | - | 12 |
LOC126807363 | - | - | - | GRCh38 | - | 12 |
LOC129389274 | - | - | - | GRCh38 | - | 51 |
LOC129389275 | - | - | - | GRCh38 | - | 17 |
LOC129389276 | - | - | - | GRCh38 | - | 15 |
LOC129389277 | - | - | - | GRCh38 | - | 12 |
There are 10 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Sep 16, 2011 | RCV000136721.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024