ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q24.32(chr10:101209582-101748381)x3
Germline
Classification
(1)
Pathogenic
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 | |||
BTRC | No evidence available | No evidence available |
GRCh38 GRCh37 |
73 | 131 | |
FBXW4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
70 | 148 | |
LBX1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
15 | 52 | |
POLL | No evidence available | No evidence available |
GRCh38 GRCh37 |
60 | 112 | |
DPCD | - | - |
GRCh38 GRCh37 |
15 | 71 | |
LBX1-AS1 | - | - | - | GRCh38 | - | 7 |
LINC02681 | - | - | - | GRCh38 | - | 9 |
LINC03046 | - | - | - | GRCh38 | - | 7 |
LOC110120850 | - | - | - | GRCh38 | - | 11 |
LOC124416891 | - | - | - | GRCh38 | - | 11 |
There are 19 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Apr 14, 2011 | RCV000137417.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024