ClinVar Genomic variation as it relates to human health
NC_000019.9:g.(?_49713446)_(50413064_?)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 | |||
PRR12 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
444 | 461 | |
ADM5 | - | - | - |
GRCh38 GRCh37 |
14 | 28 |
AKT1S1 | - | - |
GRCh38 GRCh37 |
32 | 47 | |
ALDH16A1 | - | - |
GRCh38 GRCh37 |
70 | 83 | |
AP2A1 | - | - |
GRCh38 GRCh37 |
52 | 65 | |
BCL2L12 | - | - |
GRCh38 GRCh37 |
20 | 43 | |
CD37 | - | - |
GRCh38 GRCh37 |
- | 27 | |
CPT1C | - | - |
GRCh38 GRCh37 |
315 | 329 | |
DKKL1 | - | - |
GRCh38 GRCh37 |
12 | 38 | |
FCGRT | - | - |
GRCh38 GRCh37 |
28 | 41 |
There are 27 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) |
|
Oct 3, 2023 | RCV004581120.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024