ClinVar Genomic variation as it relates to human health
NC_000014.8:g.(?_90429459)_(94856914_?)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 | |||
ASB2 | - | - |
GRCh38 GRCh38 GRCh37 |
51 | 78 | |
ATXN3 | - | - |
GRCh38 GRCh37 |
29 | 73 | |
BTBD7 | - | - |
GRCh38 GRCh38 GRCh37 |
59 | 85 | |
CALM1 | - | - |
GRCh38 GRCh37 |
96 | 161 | |
CATSPERB | - | - |
GRCh38 GRCh38 GRCh37 |
42 | 65 | |
CCDC88C | - | - |
GRCh38 GRCh37 |
1461 | 1508 | |
CHGA | - | - |
GRCh38 GRCh38 GRCh37 |
22 | 47 | |
COX8C | - | - |
GRCh38 GRCh38 GRCh37 |
- | 31 | |
CPSF2 | - | - |
GRCh38 GRCh37 |
30 | 52 | |
DDX24 | - | - |
GRCh38 GRCh38 GRCh37 |
43 | 83 |
There are 34 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 16, 2022 | RCV003113413.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023