ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3
Germline
Classification
(1)
Pathogenic
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 |
1726 | 1790 | |
FGF10 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
76 | 106 | |
ANXA2R | - | - |
GRCh38 GRCh37 |
- | 37 | |
ANXA2R-AS1 | - | - | - | GRCh38 | - | 9 |
ANXA2R-OT1 | - | - | - | GRCh38 | - | 17 |
C5orf34 | - | - | - |
GRCh38 GRCh37 |
2 | 32 |
C5orf34-AS1 | - | - | - | GRCh38 | - | 12 |
C6 | - | - |
GRCh38 GRCh37 |
453 | 478 | |
C7 | - | - |
GRCh38 GRCh37 |
520 | 546 | |
C9 | - | - |
GRCh38 GRCh37 |
303 | 331 |
There are 246 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051835.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023