ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q21.32-23(chr18:58305972-78014123)
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 | |||
GALR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
23 | 193 | |
ZNF407 | No evidence available | No evidence available |
GRCh38 GRCh37 |
281 | 496 | |
ADNP2 | - | - |
GRCh38 GRCh37 |
74 | 250 | |
ATP9B | - | - |
GRCh38 GRCh37 |
92 | 273 | |
BCL2 | - | - |
GRCh38 GRCh37 |
5 | 96 | |
C18orf63 | - | - | - |
GRCh38 GRCh37 |
3 | 158 |
CBLN2 | - | - |
GRCh38 GRCh37 |
14 | 160 | |
CCDC102B | - | - | - |
GRCh38 GRCh37 |
42 | 194 |
CD226 | - | - |
GRCh38 GRCh37 |
16 | 157 | |
CDH19 | - | - |
GRCh38 GRCh37 |
83 | 201 |
There are 50 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) |
|
Mar 1, 2022 | RCV002052647.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022