ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3
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 | |
IMPA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
26 | 69 | |
ANKRD46 | - | - | - |
GRCh38 GRCh37 |
11 | 52 |
ATP6V0D2 | - | - |
GRCh38 GRCh37 |
58 | 101 | |
CA1 | - | - |
GRCh38 GRCh37 |
20 | 59 | |
CA13 | - | - |
GRCh38 GRCh37 |
12 | 52 | |
CA2 | - | - |
GRCh38 GRCh37 |
150 | 205 | |
CA3 | - | - |
GRCh38 GRCh37 |
2 | 47 | |
CALB1 | - | - |
GRCh38 GRCh37 |
6 | 44 | |
CCNE2 | - | - |
GRCh38 GRCh37 |
8 | 50 |
There are 88 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) |
|
Dec 21, 2022 | RCV003484742.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024