ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)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 |
956 | 1027 | |
NBN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3346 | 3516 | |
RAD21 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
353 | 414 | |
TRPS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
590 | 650 | |
ZFPM2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
62 | 346 | |
AARD | - | - | - |
GRCh38 GRCh37 |
3 | 57 |
ABRA | - | - |
GRCh38 GRCh37 |
33 | 73 | |
ADCY8 | - | - |
GRCh38 GRCh37 |
48 | 112 | |
ANGPT1 | - | - |
GRCh38 GRCh37 |
238 | 284 | |
ANKRD46 | - | - | - |
GRCh38 GRCh37 |
4 | 45 |
There are 1144 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) |
|
Jan 27, 2011 | RCV000135621.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023