ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_171605065)_(173962123_?)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 | |||
ANKRD45 | - | - |
GRCh38 GRCh37 |
12 | 48 | |
C1orf105 | - | - | - |
GRCh38 GRCh37 |
2 | 81 |
CENPL | - | - |
GRCh38 GRCh37 |
20 | 65 | |
DARS2 | - | - |
GRCh38 GRCh37 |
397 | 444 | |
DNM3 | - | - |
GRCh38 GRCh37 |
50 | 83 | |
DNM3OS | - | - | - |
GRCh38 GRCh37 |
- | 28 |
FASLG | - | - |
GRCh38 GRCh37 |
199 | 225 | |
GAS5 | - | - |
GRCh38 GRCh37 |
- | 43 | |
KLHL20 | - | - |
GRCh38 GRCh37 |
18 | 58 | |
METTL13 | - | - |
GRCh38 GRCh37 |
58 | 92 |
There are 14 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) |
|
Mar 25, 2021 | RCV001939952.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023