ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)
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 | |||
NBN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3381 | 3553 | |
CALB1 | - | - |
GRCh38 GRCh37 |
6 | 44 | |
CCNE2 | - | - |
GRCh38 GRCh37 |
8 | 50 | |
CDH17 | - | - |
GRCh38 GRCh37 |
50 | 91 | |
CFAP418 | - | - |
GRCh38 GRCh37 |
169 | 269 | |
CIBAR1 | - | - |
GRCh38 GRCh37 |
21 | 63 | |
CPQ | - | - |
GRCh38 GRCh37 |
26 | 75 | |
DECR1 | - | - |
GRCh38 GRCh37 |
27 | 67 | |
DPY19L4 | - | - |
GRCh38 GRCh37 |
31 | 71 | |
ESRP1 | - | - |
GRCh38 GRCh37 |
53 | 92 |
There are 28 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) |
|
May 26, 2023 | RCV003236711.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 01, 2023