ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q23.2-24.12(chr8:111137305-119897611)x1
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 | |||
EXT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
957 | 1028 | |
RAD21 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
355 | 416 | |
TRPS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
599 | 659 | |
AARD | - | - | - |
GRCh38 GRCh37 |
4 | 61 |
CSMD3 | - | - |
GRCh38 GRCh37 |
256 | 305 | |
EIF3H | - | - |
GRCh38 GRCh37 |
12 | 73 | |
LINC00536 | - | - | - |
GRCh38 GRCh37 |
- | 52 |
MED30 | - | - |
GRCh38 GRCh37 |
6 | 64 | |
SAMD12 | - | - |
GRCh38 GRCh37 |
18 | 77 | |
SLC30A8 | - | - |
GRCh38 GRCh37 |
32 | 88 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 16, 2015 | RCV000512409.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024