ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)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 |
957 | 1028 | |
PUF60 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
173 | 246 | |
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 | |
GSDMD | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
44 | 105 | |
KCNK9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
50 | 113 | |
AARD | - | - | - |
GRCh38 GRCh37 |
4 | 61 |
ADCK5 | - | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 102 |
ADCY8 | - | - |
GRCh38 GRCh37 |
58 | 123 | |
ADGRB1 | - | - |
GRCh38 GRCh37 |
82 | 144 |
There are 165 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) |
|
Dec 1, 2023 | RCV003885521.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024