ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3
Germline
Classification
(1)
Pathogenic
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 |
694 | 754 | |
CNOT3 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
240 | 272 | |
PEG3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 152 | |
ZIM2 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 176 |
ZNF264 | No evidence available | No evidence available |
GRCh38 GRCh37 |
49 | 72 | |
A1BG | - | - |
GRCh38 GRCh37 |
29 | 60 | |
A1BG-AS1 | - | - | - | GRCh38 | - | 25 |
AURKC | - | - |
GRCh38 GRCh37 |
61 | 84 | |
BRSK1 | - | - |
GRCh38 GRCh37 |
25 | 54 | |
C19orf18 | - | - | - |
GRCh38 GRCh37 |
- | 22 |
There are 529 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 18, 2010 | RCV000134139.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024