ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.11(chr19:19230490-19440304)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 | |||
BORCS8 | - | - |
GRCh38 GRCh37 |
- | 29 | |
HAPLN4 | - | - |
GRCh38 GRCh37 |
32 | 43 | |
MAU2 | - | - |
GRCh38 GRCh37 |
14 | 27 | |
MEF2B | - | - |
GRCh38 GRCh37 |
- | 33 | |
NCAN | - | - |
GRCh38 GRCh37 |
102 | 114 | |
NR2C2AP | - | - |
GRCh38 GRCh37 |
7 | 44 | |
RFXANK | - | - |
GRCh38 GRCh37 |
241 | 278 | |
SUGP1 | - | - |
GRCh38 GRCh37 |
55 | 66 | |
TM6SF2 | - | - |
GRCh38 GRCh37 |
25 | 36 | |
TMEM161A | - | - |
GRCh38 GRCh37 |
38 | 51 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 12, 2017 | RCV000849581.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022