ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q21.3-22.1(chr14:50317272-51627752)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 |
ARF6 | - | - |
GRCh38 GRCh37 |
3 | 15 | |
ATL1 | - | - |
GRCh38 GRCh37 |
556 | 592 | |
CDKL1 | - | - |
GRCh38 GRCh37 |
18 | 30 | |
DMAC2L | - | - |
GRCh38 GRCh37 |
13 | 54 | |
L2HGDH | - | - |
GRCh38 GRCh37 |
238 | 283 | |
LINC01588 | - | - | - |
GRCh38 GRCh37 |
- | 11 |
LINC01599 | - | - | - |
GRCh38 GRCh37 |
- | 11 |
MAP4K5 | - | - |
GRCh38 GRCh37 |
37 | 69 | |
NEMF | - | - |
GRCh38 GRCh37 |
108 | 133 |
There are 8 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) |
|
Jan 2, 2019 | RCV001006632.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022