ClinVar Genomic variation as it relates to human health
NC_000012.11:g.(?_57881874)_(58190366_?)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 | |||
CDK4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
558 | 1066 | |
AGAP2 | - | - |
GRCh38 GRCh37 |
49 | 91 | |
ARHGEF25 | - | - |
GRCh38 GRCh37 |
45 | 59 | |
B4GALNT1 | - | - |
GRCh38 GRCh37 |
310 | 324 | |
CYP27B1 | - | - |
GRCh38 GRCh37 |
447 | 461 | |
DCTN2 | - | - |
GRCh38 GRCh37 |
11 | 28 | |
DDIT3 | - | - |
GRCh38 GRCh37 |
14 | 28 | |
DTX3 | - | - |
GRCh38 GRCh37 |
17 | 31 | |
EEF1AKMT3 | - | - |
GRCh38 GRCh37 |
17 | 30 | |
KIF5A | - | - |
GRCh38 GRCh37 |
1229 | 1247 |
There are 9 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) |
|
Dec 8, 2021 | RCV001916382.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023