ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3
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 | |||
BCL2 | - | - |
GRCh38 GRCh37 |
5 | 96 | |
CBLN2 | - | - |
GRCh38 GRCh37 |
14 | 160 | |
CCDC102B | - | - | - |
GRCh38 GRCh37 |
42 | 194 |
CD226 | - | - |
GRCh38 GRCh37 |
16 | 157 | |
CDH19 | - | - |
GRCh38 GRCh37 |
83 | 201 | |
CDH20 | - | - |
GRCh38 GRCh37 |
34 | 108 | |
CDH7 | - | - |
GRCh38 GRCh37 |
66 | 185 | |
DOK6 | - | - |
GRCh38 GRCh37 |
17 | 159 | |
DSEL | - | - |
GRCh38 GRCh38 GRCh37 |
69 | 193 | |
HMSD | - | - |
GRCh38 GRCh37 |
10 | 107 |
There are 22 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV003986100.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024