ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q35.1-35.2(chr4:186473718-187912600)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
CYP4V2 | - | - |
GRCh38 GRCh37 |
449 | 703 | |
F11 | - | - |
GRCh38 GRCh37 |
501 | 818 | |
FAM149A | - | - | - |
GRCh38 GRCh37 |
58 | 195 |
FAT1 | - | - |
GRCh38 GRCh37 |
1047 | 1390 | |
KLKB1 | - | - |
GRCh38 GRCh37 |
109 | 334 | |
MTNR1A | - | - |
GRCh38 GRCh37 |
23 | 165 | |
SORBS2 | - | - |
GRCh38 GRCh37 |
92 | 235 | |
TLR3 | - | - |
GRCh38 GRCh37 |
435 | 570 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV002281676.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024