ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q35.2(chr4:188339897-190957460)x1
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 | |||
FRG1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
21 | 142 | |
FRG2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
20 | 111 | |
TRIML1 | - | - | - |
GRCh38 GRCh37 |
30 | 182 |
TRIML2 | - | - |
GRCh38 GRCh37 |
25 | 176 | |
ZFP42 | - | - |
GRCh38 GRCh37 |
19 | 167 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV004442752.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024