ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1
Germline
Classification
(1)
Likely 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 | |||
ASXL3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
697 | 738 | |
CELF4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
32 | 91 | |
C18orf21 | - | - | - |
GRCh38 GRCh37 |
- | 44 |
CCDC178 | - | - | - |
GRCh38 GRCh37 |
57 | 101 |
COSMOC | - | - | - | GRCh38 | - | 21 |
DTNA | - | - |
GRCh38 GRCh37 |
609 | 651 | |
ELP2 | - | - |
GRCh38 GRCh37 |
134 | 184 | |
FHOD3 | - | - |
GRCh38 GRCh37 |
257 | 316 | |
GALNT1 | - | - |
GRCh38 GRCh37 |
9 | 51 | |
INO80C | - | - | - |
GRCh38 GRCh37 |
15 | 59 |
There are 76 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Apr 9, 2012 | RCV000138295.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024