ClinVar Genomic variation as it relates to human health
NC_000008.10:g.(?_86053597)_(87755855_?)dup
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 | |||
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 | |
CNGB3 | - | - |
GRCh38 GRCh37 |
1227 | 1271 | |
CPNE3 | - | - |
GRCh38 GRCh37 |
23 | 64 | |
E2F5 | - | - |
GRCh38 GRCh37 |
12 | 58 | |
LRRCC1 | - | - |
GRCh38 GRCh37 |
106 | 147 | |
PSKH2 | - | - | - |
GRCh38 GRCh37 |
19 | 62 |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 19, 2022 | RCV003119954.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 18, 2023