ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)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 | |||
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 |
ANGPT1 | - | - |
GRCh38 GRCh37 |
238 | 284 | |
CCN3 | - | - |
GRCh38 GRCh37 |
16 | 74 | |
COL14A1 | - | - |
GRCh38 GRCh37 |
201 | 251 | |
COLEC10 | - | - |
GRCh38 GRCh37 |
20 | 84 | |
CSMD3 | - | - |
GRCh38 GRCh37 |
256 | 305 | |
DEPTOR | - | - |
GRCh38 GRCh37 |
23 | 83 |
There are 27 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) |
|
May 4, 2020 | RCV001259025.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023