ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1
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 | |||
EXT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
957 | 1028 | |
ANXA13 | - | - |
GRCh38 GRCh37 |
28 | 80 | |
ATAD2 | - | - |
GRCh38 GRCh37 |
69 | 118 | |
C8orf76 | - | - | - |
GRCh38 GRCh37 |
- | 51 |
CCN3 | - | - |
GRCh38 GRCh37 |
16 | 74 | |
COL14A1 | - | - |
GRCh38 GRCh37 |
201 | 251 | |
COLEC10 | - | - |
GRCh38 GRCh37 |
20 | 84 | |
DEPTOR | - | - |
GRCh38 GRCh37 |
23 | 83 | |
DERL1 | - | - |
GRCh38 GRCh37 |
10 | 62 | |
DSCC1 | - | - |
GRCh38 GRCh37 |
16 | 74 |
There are 33 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) |
|
Jan 5, 2022 | RCV003329505.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023