ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20p11.23(chr20:19135948-20372082)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
CFAP61 | - | - |
GRCh38 GRCh37 |
103 | 136 | |
CRNKL1 | - | - |
GRCh38 GRCh37 |
32 | 63 | |
INSM1 | - | - |
GRCh38 GRCh37 |
34 | 61 | |
NAA20 | - | - |
GRCh38 GRCh37 |
8 | 36 | |
RALGAPA2 | - | - |
GRCh38 GRCh37 |
127 | 154 | |
RIN2 | - | - |
GRCh38 GRCh37 |
538 | 565 | |
SLC24A3 | - | - |
GRCh38 GRCh37 |
42 | 72 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV004442829.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024