ClinVar Genomic variation as it relates to human health
NC_000014.9:g.95696766_96390792dup
Germline
Classification
(4)
Likely pathogenic
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 | |||
ATG2B | - | - |
GRCh38 GRCh37 |
243 | 273 | |
BDKRB1 | - | - |
GRCh38 GRCh37 |
33 | 59 | |
BDKRB2 | - | - |
GRCh38 GRCh37 |
31 | 57 | |
C14orf132 | - | - | - |
GRCh38 GRCh37 |
3 | 28 |
GSKIP | - | - |
GRCh38 GRCh37 |
15 | 42 | |
LOC107984703 | - | - | - | GRCh38 | - | 9 |
LOC112272571 | - | - | - | GRCh38 | - | 13 |
LOC126862036 | - | - | - | GRCh38 | - | 10 |
LOC126862037 | - | - | - | GRCh38 | - | 10 |
LOC126862038 | - | - | - | GRCh38 | - | 10 |
There are 22 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 1, 2015 | RCV000190403.2 | |
Likely pathogenic (1) |
|
Jun 1, 2015 | RCV000190404.2 | |
Likely pathogenic (1) |
|
Jun 1, 2015 | RCV000190405.2 | |
Likely pathogenic (1) |
|
Jun 1, 2015 | RCV000190406.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023