ClinVar Genomic variation as it relates to human health
NC_000013.10:g.(?_41367363)_(43181054_?)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 | |||
AKAP11 | - | - |
GRCh38 GRCh37 |
103 | 161 | |
DGKH | - | - |
GRCh38 GRCh37 |
54 | 107 | |
ELF1 | - | - |
GRCh38 GRCh37 |
34 | 84 | |
KBTBD6 | - | - |
GRCh38 GRCh37 |
20 | 69 | |
KBTBD7 | - | - |
GRCh38 GRCh37 |
- | 81 | |
MTRF1 | - | - |
GRCh38 GRCh37 |
16 | 74 | |
NAA16 | - | - |
GRCh38 GRCh37 |
44 | 95 | |
RGCC | - | - |
GRCh38 GRCh37 |
6 | 55 | |
SLC25A15 | - | - |
GRCh38 GRCh37 |
435 | 495 | |
TNFSF11 | - | - |
GRCh38 GRCh37 |
96 | 271 |
There are 2 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) |
|
Jan 23, 2022 | RCV003113315.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023