ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1
Germline
Classification
(1)
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 |
6 | 99 | |
CCDC102B | - | - | - |
GRCh38 GRCh37 |
48 | 200 |
CD226 | - | - |
GRCh38 GRCh37 |
17 | 158 | |
CDH19 | - | - |
GRCh38 GRCh37 |
89 | 207 | |
CDH20 | - | - |
GRCh38 GRCh37 |
44 | 118 | |
CDH7 | - | - |
GRCh38 GRCh37 |
70 | 192 | |
DOK6 | - | - |
GRCh38 GRCh37 |
19 | 161 | |
DSEL | - | - |
GRCh38 GRCh38 GRCh37 |
81 | 205 | |
HMSD | - | - |
GRCh38 GRCh37 |
13 | 110 | |
KDSR | - | - |
GRCh38 GRCh37 |
27 | 116 |
There are 21 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000240432.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022