ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_117629935)_(119761021_?)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 | |||
CUL4B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
243 | 464 | |
LAMP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
697 | 865 | |
UBE2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
62 | 230 | |
UPF3B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
250 | 418 | |
NDUFA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
24 | 209 | |
AKAP14 | - | - |
GRCh38 GRCh37 |
5 | 170 | |
ATP1B4 | - | - |
GRCh38 GRCh37 |
27 | 195 | |
C1GALT1C1 | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 198 | |
DOCK11 | - | - |
GRCh38 GRCh37 |
87 | 248 | |
IL13RA1 | - | - |
GRCh38 GRCh37 |
20 | 182 |
There are 19 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) |
|
Jun 27, 2022 | RCV003109599.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023