ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q21(chr6:106539306-106649299)x1
Germline
Classification
(1)
Likely 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 | |||
CRYBG1 | - | - |
GRCh38 GRCh37 |
84 | 168 | |
LOC123775393 | - | - | - | GRCh38 | - | 10 |
LOC129389600 | - | - | - | GRCh38 | - | 11 |
LOC129996910 | - | - | - | GRCh38 | - | 17 |
LOC129996911 | - | - | - | GRCh38 | - | 10 |
QRSL1 | - | - |
GRCh38 GRCh37 |
121 | 159 | |
RTN4IP1 | - | - |
GRCh38 GRCh37 |
304 | 350 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Aug 24, 2023 | RCV003327619.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024