ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1
Germline
Classification
(1)
Pathogenic
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 | |||
ZNF407 | No evidence available | No evidence available |
GRCh38 GRCh37 |
296 | 513 | |
ALPK2 | - | - | - |
GRCh38 GRCh37 |
1924 | 2976 |
ATP8B1 | - | - |
GRCh38 GRCh37 |
540 | 1124 | |
BCL2 | - | - |
GRCh38 GRCh37 |
6 | 99 | |
C18orf63 | - | - | - |
GRCh38 GRCh37 |
3 | 158 |
CBLN2 | - | - |
GRCh38 GRCh37 |
16 | 162 | |
CCBE1 | - | - |
GRCh38 GRCh37 |
515 | 589 | |
CCDC102B | - | - | - |
GRCh38 GRCh37 |
48 | 200 |
CD226 | - | - |
GRCh38 GRCh37 |
17 | 158 | |
CDH19 | - | - |
GRCh38 GRCh37 |
89 | 207 |
There are 47 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 27, 2017 | RCV000684056.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022