ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_33944753)_(35089722_?)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 | |||
DNAJC21 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
333 | 390 | |
AGXT2 | - | - |
GRCh38 GRCh37 |
47 | 74 | |
AMACR | - | - |
GRCh38 GRCh37 |
2 | 440 | |
BRIX1 | - | - |
GRCh38 GRCh37 |
- | 53 | |
C1QTNF3 | - | - |
GRCh38 GRCh37 |
- | 55 | |
PRLR | - | - |
GRCh38 GRCh37 |
40 | 68 | |
RAD1 | - | - |
GRCh38 GRCh37 |
- | 59 | |
RAI14 | - | - |
GRCh38 GRCh37 |
53 | 85 | |
SLC45A2 | - | - |
GRCh38 GRCh38 GRCh37 |
578 | 626 | |
TTC23L | - | - |
GRCh38 GRCh37 |
18 | 108 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 13, 2022 | RCV001946089.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024