ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)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 | |||
ANKRD55 | - | - |
GRCh38 GRCh37 |
48 | 60 | |
ARL15 | - | - | - |
GRCh38 GRCh37 |
13 | 34 |
CCNO | - | - |
GRCh38 GRCh37 |
157 | 195 | |
CCNO-DT | - | - | - | GRCh38 | - | 65 |
CDC20B | - | - |
GRCh38 GRCh37 |
29 | 52 | |
CREST1 | - | - | - | GRCh38 | - | 5 |
CREST2 | - | - | - | GRCh38 | - | 5 |
CREST3 | - | - | - | GRCh38 | - | 6 |
DDX4 | - | - |
GRCh38 GRCh37 |
33 | 47 | |
DHX29 | - | - |
GRCh38 GRCh37 |
7 | 83 |
There are 117 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 13, 2012 | RCV000138021.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024