ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_46696536)_(47436910_?)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 | |||
RP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
355 | 565 | |
SYN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
488 | 662 | |
ZNF41 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
72 | 225 | |
ARAF | - | - |
GRCh38 GRCh37 |
30 | 180 | |
CDK16 | - | - |
GRCh38 GRCh37 |
43 | 195 | |
INE1 | - | - |
GRCh38 GRCh37 |
- | 155 | |
JADE3 | - | - |
GRCh38 GRCh37 |
28 | 185 | |
LINC01560 | - | - | - |
GRCh38 GRCh37 |
1 | 154 |
NDUFB11 | - | - |
GRCh38 GRCh37 |
61 | 218 | |
RBM10 | - | - |
GRCh38 GRCh37 |
243 | 414 |
There are 4 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) |
|
Sep 17, 2020 | RCV001309817.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023