ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q12.1-12.2(chr18:34454080-35755377)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
DTNA | - | - |
GRCh38 GRCh37 |
613 | 655 | |
GALNT1 | - | - |
GRCh38 GRCh37 |
10 | 52 | |
INO80C | - | - | - |
GRCh38 GRCh37 |
18 | 62 |
LOC111501775 | - | - | - | GRCh38 | - | 21 |
LOC112543421 | - | - | - | GRCh38 | - | 20 |
LOC121627828 | - | - | - | GRCh38 | - | 21 |
LOC121852965 | - | - | - | GRCh38 | - | 21 |
LOC125368560 | - | - | - | GRCh38 | - | 20 |
LOC125371406 | - | - | - | GRCh38 | - | 20 |
LOC125371407 | - | - | - | GRCh38 | - | 21 |
There are 30 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Sep 27, 2013 | RCV000142876.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024