ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q43(chr1:237966553-240835685)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 | |||
CHRM3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
77 | 148 | |
RYR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
7440 | 8089 | |
FMN2 | - | - |
GRCh38 GRCh37 |
419 | 502 | |
GREM2 | - | - |
GRCh38 GRCh37 |
16 | 87 | |
ZP4 | - | - |
GRCh38 GRCh37 |
50 | 102 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003986939.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024