ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_49866536)_(50540854_?)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 | |||
CACNA2D2 | - | - |
GRCh38 GRCh37 |
696 | 1136 | |
CAMKV | - | - |
GRCh38 GRCh37 |
14 | 24 | |
CYB561D2 | - | - |
GRCh38 GRCh37 |
- | 460 | |
GNAI2 | - | - |
GRCh38 GRCh37 |
14 | 25 | |
GNAT1 | - | - |
GRCh38 GRCh37 |
335 | 345 | |
HYAL1 | - | - |
GRCh38 GRCh37 |
362 | 372 | |
HYAL2 | - | - |
GRCh38 GRCh37 |
55 | 64 | |
HYAL3 | - | - |
GRCh38 GRCh37 |
34 | 68 | |
IFRD2 | - | - |
GRCh38 GRCh37 |
37 | 53 | |
LSMEM2 | - | - | - |
GRCh38 GRCh37 |
13 | 23 |
There are 15 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) |
|
May 31, 2022 | RCV003119656.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024