ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3
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 | |||
ASXL3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
741 | 782 | |
CELF4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
34 | 93 | |
B4GALT6 | - | - |
GRCh38 GRCh37 |
13 | 56 | |
C18orf21 | - | - | - |
GRCh38 GRCh37 |
- | 44 |
CCDC178 | - | - | - |
GRCh38 GRCh37 |
66 | 110 |
COSMOC | - | - | - | GRCh38 | - | 21 |
DTNA | - | - |
GRCh38 GRCh37 |
613 | 655 | |
ELP2 | - | - |
GRCh38 GRCh37 |
146 | 196 | |
FHOD3 | - | - |
GRCh38 GRCh37 |
284 | 343 | |
GALNT1 | - | - |
GRCh38 GRCh37 |
10 | 52 |
There are 138 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050773.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024