ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)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 |
998 | 1073 | |
RAD21 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
382 | 446 | |
TRPS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
620 | 683 | |
AARD | - | - | - |
GRCh38 GRCh37 |
5 | 67 |
ANXA13 | - | - |
GRCh38 GRCh37 |
32 | 85 | |
ATAD2 | - | - |
GRCh38 GRCh37 |
76 | 125 | |
C8orf76 | - | - | - |
GRCh38 GRCh37 |
- | 51 |
CCN3 | - | - |
GRCh38 GRCh37 |
19 | 80 | |
COL14A1 | - | - |
GRCh38 GRCh37 |
216 | 267 | |
COLEC10 | - | - |
GRCh38 GRCh37 |
23 | 91 |
There are 307 more genes affected by this variant. See the full set of genes in Variation Viewer (NCBI36 , GRCh38 , GRCh37) 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 | RCV000054301.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024