ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1
Germline
Classification
(2)
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 | |||
TNNI3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
694 | 754 | |
BRSK1 | - | - |
GRCh38 GRCh37 |
25 | 54 | |
CCDC106 | - | - |
GRCh38 GRCh37 |
18 | 46 | |
COX6B2 | - | - |
GRCh38 GRCh37 |
4 | 29 | |
DNAAF3 | - | - |
GRCh38 GRCh37 |
44 | 461 | |
EPN1 | - | - |
GRCh38 GRCh37 |
54 | 86 | |
EPS8L1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
71 | 100 | |
FIZ1 | - | - |
GRCh38 GRCh37 |
27 | 54 | |
GARIN5B | - | - | - |
GRCh38 GRCh37 |
84 | 113 |
GP6 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
215 | 244 |
There are 37 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) |
|
Feb 2, 2022 | RCV002279751.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023