ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(?_138594085)_(140062314_?)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 | |||
ABCA2 | - | - |
GRCh38 GRCh37 |
322 | 417 | |
AGPAT2 | - | - |
GRCh38 GRCh37 |
192 | 254 | |
AJM1 | - | - | - |
GRCh38 GRCh37 |
- | 60 |
C8G | - | - |
GRCh38 GRCh37 |
28 | 90 | |
C9orf163 | - | - | - |
GRCh38 GRCh37 |
- | 74 |
CAMSAP1 | - | - |
GRCh38 GRCh37 |
98 | 157 | |
CARD9 | - | - |
GRCh38 GRCh37 |
512 | 589 | |
CCDC183 | - | - |
GRCh38 GRCh37 |
12 | 107 | |
CLIC3 | - | - |
GRCh38 GRCh37 |
18 | 80 | |
DIPK1B | - | - |
GRCh38 GRCh37 |
38 | 101 |
There are 41 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) |
|
Feb 25, 2019 | RCV001033771.1 | |
Uncertain significance (1) |
|
Feb 14, 2020 | RCV001305481.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023