ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_8829597)_(11650586_?)dup
Germline
Classification
(2)
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 | |||
GRIN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2086 | 2138 | |
USP7 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
358 | 451 | |
LITAF | No evidence available | No evidence available |
GRCh38 GRCh37 |
284 | 315 | |
ABAT | - | - |
GRCh38 GRCh37 |
719 | 808 | |
ATF7IP2 | - | - |
GRCh38 GRCh37 |
56 | 106 | |
CARHSP1 | - | - |
GRCh38 GRCh37 |
- | 99 | |
CIITA | - | - |
GRCh38 GRCh37 |
1624 | 1694 | |
CLEC16A | - | - |
GRCh38 GRCh37 |
100 | 129 | |
DEXI | - | - |
GRCh38 GRCh37 |
- | 41 | |
EMP2 | - | - |
GRCh38 GRCh37 |
92 | 127 |
There are 12 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 3, 2023 | RCV002000309.6 | |
Uncertain significance (1) |
|
Oct 19, 2022 | RCV003120793.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024