ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q21.3(chr8:87010235-91879538)x1
Germline
Classification
(1)
Uncertain significance
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 |
3402 | - | |
ATP6V0D2 | - | - |
GRCh38 GRCh37 |
58 | 101 | |
CALB1 | - | - |
GRCh38 GRCh37 |
6 | - | |
CNBD1 | - | - | - |
GRCh38 GRCh37 |
35 | 78 |
CNGB3 | - | - |
GRCh38 GRCh37 |
1227 | 1271 | |
CPNE3 | - | - |
GRCh38 GRCh37 |
23 | 64 | |
DCAF4L2 | - | - | - |
GRCh38 GRCh37 |
34 | 75 |
DECR1 | - | - |
GRCh38 GRCh37 |
- | 68 | |
MMP16 | - | - |
GRCh38 GRCh37 |
24 | - | |
NECAB1 | - | - | - |
GRCh38 GRCh37 |
11 | 51 |
There are 7 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
May 3, 2022 | RCV002472864.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022