ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)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 |
76 | 147 | |
RYR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
7383 | 8023 | |
ACTN2 | - | - |
GRCh38 GRCh37 |
1480 | 1540 | |
ARID4B | - | - |
GRCh38 GRCh37 |
56 | 110 | |
B3GALNT2 | - | - |
GRCh38 GRCh38 GRCh37 |
440 | 658 | |
COA6 | - | - |
GRCh38 GRCh37 |
49 | 106 | |
EDARADD | - | - |
GRCh38 GRCh37 |
164 | 226 | |
ERO1B | - | - |
GRCh38 GRCh37 |
33 | 94 | |
FMN2 | - | - |
GRCh38 GRCh37 |
405 | 488 | |
GGPS1 | - | - |
GRCh38 GRCh37 |
13 | 65 |
There are 16 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 |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003987172.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024