ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)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 | |||
ABHD12B | - | - | - |
GRCh38 GRCh37 |
32 | 47 |
ATL1 | - | - |
GRCh38 GRCh37 |
556 | 592 | |
CDKL1 | - | - |
GRCh38 GRCh37 |
18 | 30 | |
DMAC2L | - | - |
GRCh38 GRCh37 |
13 | 54 | |
FRMD6 | - | - |
GRCh38 GRCh37 |
52 | 63 | |
FRMD6-AS1 | - | - | - | GRCh38 | - | 6 |
FRMD6-AS2 | - | - | - | GRCh38 | - | 6 |
L2HGDH | - | - |
GRCh38 GRCh37 |
238 | 283 | |
LINC00519 | - | - | - | GRCh38 | - | 5 |
LINC00640 | - | - | - | GRCh38 | - | 5 |
There are 62 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 | RCV000052059.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024