ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q23-24(chr3:142780798-146233927)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 | |||
CHST2 | - | - |
GRCh38 GRCh37 |
17 | 37 | |
DIPK2A | - | - |
GRCh38 GRCh37 |
- | 20 | |
HLMR1 | - | - | - | GRCh38 | - | 9 |
LNCSRLR | - | - | - | GRCh38 | - | 7 |
LOC100289361 | - | - | - | GRCh38 | - | 10 |
LOC115995526 | - | - | - | GRCh38 | - | 10 |
LOC121048715 | - | - | - | GRCh38 | - | 10 |
LOC121048716 | - | - | - | GRCh38 | - | 10 |
LOC123192011 | - | - | - | GRCh38 | - | 8 |
LOC126806831 | - | - | - | GRCh38 | - | 10 |
There are 41 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) |
|
Dec 22, 2010 | RCV000135827.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024