ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q43-44(chr1:237906379-244022201)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 | |||
FH | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2031 | 2117 | |
AKT3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
180 | 362 | |
CHRM3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
79 | 150 | |
AKT3-IT1 | - | - | - |
GRCh38 GRCh38 |
- | 49 |
BECN2 | - | - | GRCh38 | 4 | 40 | |
CEP170 | - | - |
GRCh38 GRCh38 GRCh37 |
106 | 215 | |
CHML | - | - |
GRCh38 GRCh37 |
- | 134 | |
CHRM3-AS1 | - | - | - | GRCh38 | - | 29 |
CHRM3-AS2 | - | - | - | GRCh38 | - | 28 |
EXO1 | - | - |
GRCh38 GRCh37 |
76 | 161 |
There are 47 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053990.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023