ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q11.2(chr18:23477183-23753724)x1
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 | |||
ANKRD29 | - | - | - |
GRCh38 GRCh37 |
29 | 68 |
LAMA3 | - | - |
GRCh38 GRCh37 |
1878 | 1969 | |
LOC121852961 | - | - | - | GRCh38 | - | 17 |
LOC125368555 | - | - | - | GRCh38 | - | 17 |
LOC126862704 | - | - | - | GRCh38 | - | 18 |
LOC126862705 | - | - | - | GRCh38 | - | 19 |
LOC126862706 | - | - | - | GRCh38 | - | 19 |
LOC130062281 | - | - | - | GRCh38 | - | 17 |
LOC130062282 | - | - | - | GRCh38 | - | 17 |
LOC130062283 | - | - | - | GRCh38 | - | 17 |
There are 11 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) |
|
Feb 6, 2013 | RCV000141555.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024