ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.13(chr16:10529891-11889585)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 | |||
LITAF | No evidence available | No evidence available |
GRCh38 GRCh37 |
280 | 310 | |
ATF7IP2 | - | - |
GRCh38 GRCh37 |
44 | 94 | |
CIITA | - | - |
GRCh38 GRCh37 |
1616 | 1683 | |
CLEC16A | - | - |
GRCh38 GRCh37 |
85 | 113 | |
DEXI | - | - |
GRCh38 GRCh37 |
- | 38 | |
EMP2 | - | - |
GRCh38 GRCh37 |
90 | 125 | |
NUBP1 | - | - |
GRCh38 GRCh37 |
16 | 63 | |
PRM1 | - | - |
GRCh38 GRCh37 |
10 | 37 | |
PRM2 | - | - |
GRCh38 GRCh37 |
21 | 48 | |
PRM3 | - | - | - |
GRCh38 GRCh37 |
15 | 42 |
There are 8 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 22, 2017 | RCV000683759.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022