ClinVar Genomic variation as it relates to human health
NC_000019.9:g.(?_49519325)_(50366015_?)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 | |||
ADM5 | - | - | - |
GRCh38 GRCh37 |
11 | 24 |
ALDH16A1 | - | - |
GRCh38 GRCh37 |
67 | 79 | |
AP2A1 | - | - |
GRCh38 GRCh37 |
45 | 57 | |
BCL2L12 | - | - |
GRCh38 GRCh37 |
18 | 40 | |
C19orf73 | - | - | - |
GRCh38 GRCh37 |
- | 11 |
CD37 | - | - |
GRCh38 GRCh37 |
- | 23 | |
CGB1 | - | - |
GRCh38 GRCh37 |
18 | 32 | |
CGB2 | - | - |
GRCh38 GRCh37 |
15 | 29 | |
CGB3 | - | - |
GRCh38 GRCh37 |
5 | 18 | |
CGB5 | - | - |
GRCh38 GRCh37 |
14 | 27 |
There are 37 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) |
|
May 5, 2021 | RCV002030046.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023