ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)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 | |||
GALR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
23 | 193 | |
ZNF407 | No evidence available | No evidence available |
GRCh38 GRCh37 |
282 | 497 | |
ADNP2 | - | - |
GRCh38 GRCh37 |
74 | 250 | |
ALPK2 | - | - |
GRCh38 GRCh37 |
1795 | 2778 | |
ATP8B1 | - | - |
GRCh38 GRCh37 |
512 | 1084 | |
ATP9B | - | - |
GRCh38 GRCh37 |
92 | 273 | |
BCL2 | - | - |
GRCh38 GRCh37 |
5 | 96 | |
BOD1L2 | - | - | - |
GRCh38 GRCh37 |
- | 67 |
C18orf63 | - | - | - |
GRCh38 GRCh37 |
3 | 158 |
CBLN2 | - | - |
GRCh38 GRCh37 |
14 | 160 |
There are 71 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
May 5, 2014 | RCV000512059.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024