ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.42(chr19:55066790-55789870)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 | |||
TNNI3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
695 | 755 | |
BRSK1 | - | - |
GRCh38 GRCh37 |
25 | 54 | |
C19orf85 | - | - | - | GRCh38 | - | 12 |
CCDC106 | - | - |
GRCh38 GRCh37 |
18 | 46 | |
COX6B2 | - | - |
GRCh38 GRCh37 |
4 | 29 | |
DNAAF3 | - | - |
GRCh38 GRCh37 |
44 | 461 | |
DNAAF3-AS1 | - | - | - | GRCh38 | - | 394 |
EPN1 | - | - |
GRCh38 GRCh37 |
54 | 86 | |
EPS8L1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
71 | 100 | |
FIZ1 | - | - |
GRCh38 GRCh37 |
27 | 54 |
There are 116 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 18, 2014 | RCV000142067.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024