ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.42(chr19:54280799-54635178)x1
Germline
Classification
(1)
Pathogenic
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 | |||
CACNG6 | - | - |
GRCh38 GRCh37 |
22 | 43 | |
CACNG7 | - | - |
GRCh38 GRCh37 |
15 | 40 | |
CACNG8 | - | - |
GRCh38 GRCh37 |
27 | 53 | |
MIR371A | - | - |
GRCh38 GRCh37 |
- | 27 | |
MIR372 | - | - |
GRCh38 GRCh37 |
- | 27 | |
MIR373 | - | - |
GRCh38 GRCh37 |
- | 27 | |
MYADM | - | - |
GRCh38 GRCh37 |
20 | 48 | |
NDUFA3 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
4 | 29 | |
NLRP12 | - | - |
GRCh38 GRCh37 |
1180 | 1209 | |
OSCAR | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
28 | 50 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000240343.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023