ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q42.3-43(chr1:236221501-237380903)x3
Germline
Classification
(1)
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 | |||
RYR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
7383 | 8023 | |
ACTN2 | - | - |
GRCh38 GRCh37 |
1480 | 1540 | |
EDARADD | - | - |
GRCh38 GRCh37 |
164 | 226 | |
ERO1B | - | - |
GRCh38 GRCh37 |
33 | 94 | |
GPR137B | - | - |
GRCh38 GRCh37 |
20 | 83 | |
HEATR1 | - | - |
GRCh38 GRCh37 |
130 | 194 | |
LGALS8 | - | - |
GRCh38 GRCh37 |
21 | 85 | |
MT1HL1 | - | - | - |
GRCh38 GRCh37 |
- | 60 |
MTR | - | - |
GRCh38 GRCh37 |
1267 | 1364 | |
NID1 | - | - |
GRCh38 GRCh37 |
172 | 236 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003987028.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024