ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3
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 |
984 | 1059 | |
RAD21 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
357 | 421 | |
TRPS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
602 | 665 | |
AARD | - | - | - |
GRCh38 GRCh37 |
4 | 65 |
ADCY8 | - | - |
GRCh38 GRCh37 |
58 | 123 | |
ANXA13 | - | - |
GRCh38 GRCh37 |
28 | 81 | |
ASAP1 | - | - |
GRCh38 GRCh37 |
31 | 97 | |
ASAP1-IT1 | - | - | - |
GRCh38 GRCh37 |
- | 60 |
ASAP1-IT2 | - | - | - | GRCh38 | - | 27 |
ATAD2 | - | - |
GRCh38 GRCh37 |
69 | 118 |
There are 550 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 24, 2023 | RCV003327615.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024