ClinVar Genomic variation as it relates to human health
NC_000008.10:g.(?_21900440)_(23564111_?)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 | |||
CHMP7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
15 | 102 | |
BIN3 | - | - |
GRCh38 GRCh37 |
23 | 116 | |
BMP1 | - | - |
GRCh38 GRCh37 |
713 | 1001 | |
C8orf58 | - | - | - |
GRCh38 GRCh37 |
8 | 94 |
CCAR2 | - | - |
GRCh38 GRCh37 |
88 | 179 | |
DMTN | - | - |
GRCh38 GRCh37 |
17 | 105 | |
EGR3 | - | - |
GRCh38 GRCh37 |
16 | 104 | |
ENTPD4 | - | - |
GRCh38 GRCh37 |
47 | 130 | |
FGF17 | - | - |
GRCh38 GRCh37 |
46 | 133 | |
FHIP2B | - | - |
GRCh38 GRCh37 |
56 | 144 |
There are 24 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 |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV001928022.3 | |
Uncertain significance (1) |
|
Aug 22, 2022 | RCV003107885.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023