ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q22.1-22.2(chr18:63826068-67913864)x1
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 | |||
CCDC102B | - | - | - |
GRCh38 GRCh37 |
48 | 200 |
CD226 | - | - |
GRCh38 GRCh37 |
17 | 158 | |
CDH19 | - | - |
GRCh38 GRCh37 |
88 | 206 | |
DOK6 | - | - |
GRCh38 GRCh37 |
19 | 161 | |
DSEL | - | - |
GRCh38 GRCh38 GRCh37 |
81 | 205 | |
RTTN | - | - |
GRCh38 GRCh37 |
1201 | 1374 | |
TMX3 | - | - |
GRCh38 GRCh37 |
56 | 199 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 9, 2021 | RCV002472629.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022