ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_52018081)_(53845433_?)del
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 | |||
BAP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2788 | 2804 | |
ACY1 | - | - |
GRCh38 GRCh37 |
1 | 162 | |
ALAS1 | - | - |
GRCh38 GRCh37 |
32 | 44 | |
CACNA1D | - | - |
GRCh38 GRCh37 |
1887 | 1934 | |
DCP1A | - | - |
GRCh38 GRCh37 |
24 | 36 | |
DNAH1 | - | - |
GRCh38 GRCh37 |
2166 | 2184 | |
DUSP7 | - | - |
GRCh38 GRCh37 |
8 | 20 | |
GLT8D1 | - | - |
GRCh38 GRCh37 |
20 | 31 | |
GLYCTK | - | - |
GRCh38 GRCh37 |
171 | 183 | |
GNL3 | - | - |
GRCh38 GRCh37 |
25 | 36 |
There are 27 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) |
|
Sep 2, 2022 | RCV003105312.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024