ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1
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 |
3346 | 3516 | |
IMPA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
21 | 64 | |
ATP6V0D2 | - | - |
GRCh38 GRCh37 |
50 | 93 | |
C8orf88 | - | - | - | GRCh38 | - | 17 |
CA1 | - | - |
GRCh38 GRCh37 |
17 | 56 | |
CA13 | - | - |
GRCh38 GRCh37 |
11 | 51 | |
CA2 | - | - |
GRCh38 GRCh37 |
149 | 204 | |
CA3 | - | - |
GRCh38 GRCh37 |
2 | 47 | |
CA3-AS1 | - | - | - | GRCh38 | - | 33 |
CALB1 | - | - |
GRCh38 GRCh37 |
5 | 43 |
There are 319 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) |
|
Aug 12, 2011 | RCV000054262.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023