ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3
Germline
Classification
(1)
Pathogenic
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 |
1730 | 1781 | |
FGF10 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
76 | 105 | |
MAP3K1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
178 | 274 | |
PDE4D | No evidence available | No evidence available |
GRCh38 GRCh37 |
516 | 541 | |
ACTBL2 | - | - |
GRCh38 GRCh37 |
3 | 37 | |
ANKRD55 | - | - |
GRCh38 GRCh37 |
39 | 51 | |
ANXA2R | - | - |
GRCh38 GRCh37 |
- | 33 | |
ANXA2R-AS1 | - | - | - | GRCh38 | - | 9 |
ANXA2R-OT1 | - | - | - | GRCh38 | - | 17 |
ARL15 | - | - | - |
GRCh38 GRCh37 |
9 | 30 |
There are 510 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) |
|
May 6, 2011 | RCV000137302.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 20, 2023