ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q22.1(chr5:110564896-111731572)x3
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 | |||
CAMK4 | - | - |
GRCh38 GRCh37 |
40 | 79 | |
LOC126807474 | - | - | - | GRCh38 | - | 15 |
LOC129994342 | - | - | - | GRCh38 | - | 16 |
LOC129994343 | - | - | - | GRCh38 | - | 18 |
LOC129994344 | - | - | - | GRCh38 | - | 17 |
LOC129994345 | - | - | - | GRCh38 | - | 17 |
LOC129994346 | - | - | - | GRCh38 | - | 32 |
LOC129994347 | - | - | - | GRCh38 | - | 15 |
LOC129994348 | - | - | - | GRCh38 | - | 15 |
LOC129994349 | - | - | - | GRCh38 | - | 15 |
There are 23 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000053289.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024