ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.2(chr21:40726882-41265009)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 | |||
B3GALT5 | - | - |
GRCh38 GRCh37 |
2 | 78 | |
GET1 | - | - |
GRCh38 GRCh37 |
- | 133 | |
IGSF5 | - | - |
GRCh38 GRCh37 |
25 | 109 | |
LCA5L | - | - | - |
GRCh38 GRCh37 |
- | 117 |
PCP4 | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 82 | |
SH3BGR | - | - |
GRCh38 GRCh37 |
- | 97 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 15, 2017 | RCV000849872.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022