ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_118986730)_(119603030_?)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 | |||
LAMP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
709 | 879 | |
UPF3B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
253 | 422 | |
NDUFA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
25 | 212 | |
AKAP14 | - | - |
GRCh38 GRCh37 |
7 | 173 | |
ATP1B4 | - | - |
GRCh38 GRCh37 |
30 | 199 | |
NKAP | - | - |
GRCh38 GRCh37 |
43 | 209 | |
RHOXF1 | - | - |
GRCh38 GRCh37 |
- | 179 | |
RHOXF2 | - | - |
GRCh38 GRCh37 |
18 | 184 | |
RHOXF2B | - | - | - |
GRCh38 GRCh37 |
- | 178 |
RNF113A | - | - |
GRCh38 GRCh37 |
80 | 262 |
There are 2 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) |
|
Jan 6, 2016 | RCV000258048.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022