ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)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 |
995 | 1070 | |
NBN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3418 | 3591 | |
PUF60 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
182 | 255 | |
RAD21 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
366 | 430 | |
TRPS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
616 | 679 | |
ZFPM2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
70 | 368 | |
GSDMD | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
48 | 109 | |
KCNK9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
54 | 117 | |
AARD | - | - | - |
GRCh38 GRCh37 |
5 | 67 |
ABRA | - | - |
GRCh38 GRCh37 |
44 | 84 |
There are 269 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Mar 26, 2015 | RCV000511002.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024