ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q14.2(chr13:48591738-50064488)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 | |||
ARL11 | - | - |
GRCh38 GRCh37 |
16 | 85 | |
CAB39L | - | - |
GRCh38 GRCh37 |
21 | 86 | |
CDADC1 | - | - |
GRCh38 GRCh37 |
18 | 80 | |
CYSLTR2 | - | - |
GRCh38 GRCh37 |
32 | 92 | |
DLEU2 | - | - |
GRCh38 GRCh37 |
- | 93 | |
EBPL | - | - |
GRCh38 GRCh37 |
12 | 80 | |
FNDC3A | - | - |
GRCh38 GRCh37 |
59 | 121 | |
KCNRG | - | - |
GRCh38 GRCh37 |
- | 78 | |
KPNA3 | - | - |
GRCh38 GRCh37 |
22 | 88 | |
LOC105370203 | - | - | - | GRCh38 | - | 33 |
There are 42 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) |
|
Sep 3, 2013 | RCV000143577.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024