ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q24.32(chr10:101297763-101618190)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |
POLL | No evidence available | No evidence available |
GRCh38 GRCh37 |
60 | 112 | |
DPCD | - | - |
GRCh38 GRCh37 |
15 | 71 | |
LOC110120850 | - | - | - | GRCh38 | - | 11 |
LOC126861018 | - | - | - | GRCh38 | - | 10 |
LOC130004554 | - | - | - | GRCh38 | - | 10 |
LOC130004555 | - | - | - | GRCh38 | - | 10 |
LOC130004556 | - | - | - | GRCh38 | - | 11 |
LOC130004557 | - | - | - | GRCh38 | - | 12 |
There are 5 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) |
|
Aug 12, 2011 | RCV000053586.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024