ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_113456513)_(116311162_?)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 | |||
AMPD1 | - | - |
GRCh38 GRCh37 |
500 | 515 | |
AP4B1 | - | - |
GRCh38 GRCh37 |
110 | 426 | |
BCAS2 | - | - |
GRCh38 GRCh37 |
7 | 21 | |
BCL2L15 | - | - |
GRCh38 GRCh37 |
- | 20 | |
CASQ2 | - | - |
GRCh38 GRCh37 |
708 | 746 | |
CSDE1 | - | - |
GRCh38 GRCh37 |
83 | 99 | |
DCLRE1B | - | - |
GRCh38 GRCh37 |
131 | 170 | |
DENND2C | - | - | - |
GRCh38 GRCh37 |
33 | 56 |
HIPK1 | - | - |
GRCh38 GRCh37 |
51 | 66 | |
LRIG2 | - | - |
GRCh38 GRCh37 |
102 | 127 |
There are 15 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) |
|
Feb 19, 2022 | RCV003107709.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024