ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q13.3-14.11(chr13:39428367-43608103)
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 | |||
AKAP11 | - | - |
GRCh38 GRCh37 |
111 | 169 | |
COG6 | - | - |
GRCh38 GRCh37 |
361 | 408 | |
DGKH | - | - |
GRCh38 GRCh37 |
60 | 113 | |
DNAJC15 | - | - |
GRCh38 GRCh37 |
13 | 76 | |
ELF1 | - | - |
GRCh38 GRCh37 |
38 | 88 | |
EPSTI1 | - | - |
GRCh38 GRCh37 |
39 | 101 | |
FAM216B | - | - | - |
GRCh38 GRCh37 |
10 | 66 |
FOXO1 | - | - |
GRCh38 GRCh37 |
42 | 95 | |
FREM2 | - | - |
GRCh38 GRCh37 |
1868 | 1930 | |
KBTBD6 | - | - |
GRCh38 GRCh37 |
24 | 74 |
There are 13 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) |
|
Mar 1, 2022 | RCV002053053.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022