ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_117629935)_(119761021_?)del
Germline
Classification
(2)
Pathogenic
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 |
282 | 512 | |
LAMP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
712 | 882 | |
UBE2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
64 | 233 | |
UPF3B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
259 | 428 | |
NDUFA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
25 | 212 | |
AKAP14 | - | - |
GRCh38 GRCh37 |
7 | 173 | |
ATP1B4 | - | - |
GRCh38 GRCh37 |
30 | 199 | |
C1GALT1C1 | - | - |
GRCh38 GRCh38 GRCh37 |
35 | 200 | |
DOCK11 | - | - |
GRCh38 GRCh37 |
96 | 258 | |
IL13RA1 | - | - |
GRCh38 GRCh37 |
20 | 183 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 23, 2022 | RCV003113287.4 | |
Pathogenic (1) |
|
Apr 21, 2023 | RCV004579598.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024