ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_182733226)_(184094097_?)del
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(1)
Pathogenic(1); Uncertain significance(1)
criteria provided, conflicting classifications
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 | |||
ABCC5 | - | - |
GRCh38 GRCh37 |
61 | 102 | |
ABCF3 | - | - |
GRCh38 GRCh37 |
32 | 77 | |
ALG3 | - | - |
GRCh38 GRCh37 |
197 | 245 | |
AP2M1 | - | - |
GRCh38 GRCh37 |
202 | 261 | |
B3GNT5 | - | - |
GRCh38 GRCh37 |
- | 58 | |
CAMK2N2 | - | - |
GRCh38 GRCh37 |
- | 46 | |
CLCN2 | - | - |
GRCh38 GRCh37 |
437 | 485 | |
DVL3 | - | - |
GRCh38 GRCh37 |
313 | 355 | |
ECE2 | - | - |
GRCh38 GRCh37 |
- | 113 | |
EIF2B5 | - | - |
GRCh38 GRCh37 |
669 | 757 |
There are 18 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) |
|
Aug 2, 2022 | RCV003116434.3 | |
Pathogenic (1) |
|
Aug 2, 2022 | RCV003116435.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023