ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)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 |
986 | 1061 | |
RAD21 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
360 | 424 | |
TRPS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
615 | 678 | |
AARD | - | - | - |
GRCh38 GRCh37 |
5 | 67 |
CCN3 | - | - |
GRCh38 GRCh37 |
19 | 80 | |
COL14A1 | - | - |
GRCh38 GRCh37 |
216 | 267 | |
COLEC10 | - | - |
GRCh38 GRCh37 |
23 | 91 | |
CSMD3 | - | - |
GRCh38 GRCh37 |
270 | 319 | |
DEPTOR | - | - |
GRCh38 GRCh37 |
24 | 86 | |
DSCC1 | - | - |
GRCh38 GRCh37 |
16 | 76 |
There are 21 more genes 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) |
|
Aug 7, 2017 | RCV000683038.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023