ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_11850737)_(12569078_?)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 | |||
MFN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1239 | 1343 | |
CLCN6 | - | - |
GRCh38 GRCh37 |
789 | 865 | |
KIAA2013 | - | - | - |
GRCh38 GRCh37 |
27 | 81 |
MIIP | - | - |
GRCh38 GRCh37 |
45 | 92 | |
MTHFR | - | - |
GRCh38 GRCh37 |
842 | 905 | |
NPPA | - | - |
GRCh38 GRCh37 |
- | 205 | |
NPPB | - | - |
GRCh38 GRCh37 |
17 | 67 | |
PLOD1 | - | - |
GRCh38 GRCh37 |
1157 | 1220 | |
TNFRSF1B | - | - |
GRCh38 GRCh37 |
24 | 71 | |
TNFRSF8 | - | - |
GRCh38 GRCh37 |
47 | 94 |
There is 1 more gene 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) |
|
Jun 24, 2021 | RCV001877528.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023