ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.42(chr19:53867570-55833460)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 | |
CNOT3 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
242 | 274 | |
BRSK1 | - | - |
GRCh38 GRCh37 |
25 | 54 | |
CACNG6 | - | - |
GRCh38 GRCh37 |
22 | 43 | |
CACNG7 | - | - |
GRCh38 GRCh37 |
15 | 40 | |
CACNG8 | - | - |
GRCh38 GRCh37 |
27 | 53 | |
CDC42EP5 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
24 | 46 | |
DNAAF3 | - | - |
GRCh38 GRCh37 |
44 | 461 | |
DPRX | - | - |
GRCh38 GRCh37 |
9 | 33 | |
EPS8L1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
71 | 100 |
There are 60 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) |
|
Mar 24, 2018 | RCV000684091.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023