ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)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 | |
NBN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3381 | 3553 | |
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 | |
ZFPM2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
65 | 356 | |
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 |
ABRA | - | - |
GRCh38 GRCh37 |
40 | 80 |
There are 1544 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 22, 2013 | RCV000143659.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024