ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_136633338)_(140998481_?)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 | |||
CTNNA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2822 | 2878 | |
PURA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
464 | 521 | |
PCDHGA8 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
- | 560 | |
ANKHD1 | - | - |
GRCh38 GRCh37 |
- | 29 | |
ANKHD1-EIF4EBP3 | - | - | - |
GRCh38 GRCh37 |
5 | 44 |
APBB3 | - | - |
GRCh38 GRCh37 |
36 | 54 | |
BRD8 | - | - |
GRCh38 GRCh37 |
43 | 63 | |
CD14 | - | - |
GRCh38 GRCh37 |
- | 41 | |
CDC23 | - | - |
GRCh38 GRCh37 |
14 | 34 | |
CDC25C | - | - |
GRCh38 GRCh37 |
30 | 49 |
There are 108 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 24, 2020 | RCV001339088.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 02, 2024