ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q13.32(chr22:48500344-49037170)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 | |||
LINC01310 | - | - | - | GRCh38 | - | 56 |
LOC112695107 | - | - | - | GRCh38 | - | 54 |
LOC112695108 | - | - | - | GRCh38 | - | 57 |
LOC129391288 | - | - | - | GRCh38 | - | 57 |
LOC132090653 | - | - | - | GRCh38 | - | 55 |
LOC132090654 | - | - | - | GRCh38 | - | 55 |
LOC132090655 | - | - | - | GRCh38 | - | 57 |
LOC132090923 | - | - | - | GRCh38 | - | 56 |
LOC284933 | - | - | - | GRCh38 | - | 54 |
MIR4535 | - | - | - | GRCh38 | - | 55 |
There is 1 more gene 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) |
|
Nov 14, 2012 | RCV000139925.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024