ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_76851749)_(78367298_?)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 | |||
CARD14 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
717 | 1170 | |
C1QTNF1 | - | - |
GRCh38 GRCh37 |
11 | 50 | |
CANT1 | - | - |
GRCh38 GRCh37 |
396 | 430 | |
CBX2 | - | - |
GRCh38 GRCh37 |
112 | 139 | |
CBX4 | - | - |
GRCh38 GRCh37 |
34 | 54 | |
CBX8 | - | - |
GRCh38 GRCh37 |
14 | 34 | |
CCDC40 | - | - |
GRCh38 GRCh38 GRCh37 |
946 | 988 | |
EIF4A3 | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 51 | |
ENGASE | - | - |
GRCh38 GRCh37 |
72 | 101 | |
ENPP7 | - | - |
GRCh38 GRCh37 |
35 | 55 |
There are 8 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 23, 2022 | RCV003122634.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023