ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)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 | |||
ABCC2 | - | - |
GRCh38 GRCh37 |
943 | 1105 | |
BLOC1S2 | - | - |
GRCh38 GRCh37 |
1 | 20 | |
CHUK | - | - |
GRCh38 GRCh37 |
180 | 214 | |
CHUK-DT | - | - | - | GRCh38 | - | 14 |
CNNM1 | - | - |
GRCh38 GRCh37 |
60 | 78 | |
COX15 | - | - |
GRCh38 GRCh37 |
367 | 497 | |
CPN1 | - | - |
GRCh38 GRCh37 |
30 | 47 | |
CUTC | - | - |
GRCh38 GRCh37 |
14 | 48 | |
CWF19L1 | - | - |
GRCh38 GRCh37 |
90 | 114 | |
DNMBP | - | - |
GRCh38 GRCh37 |
88 | 167 |
There are 64 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 18, 2011 | RCV000135650.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024