ClinVar Genomic variation as it relates to human health
NC_000004.11:g.(?_186423448)_(187630981_?)dup
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 | |||
CYP4V2 | - | - |
GRCh38 GRCh37 |
448 | 702 | |
F11 | - | - |
GRCh38 GRCh37 |
494 | 810 | |
FAM149A | - | - | - |
GRCh38 GRCh37 |
58 | 195 |
FAT1 | - | - |
GRCh38 GRCh37 |
1027 | 1364 | |
KLKB1 | - | - |
GRCh38 GRCh37 |
106 | 331 | |
MTNR1A | - | - |
GRCh38 GRCh37 |
23 | 165 | |
PDLIM3 | - | - |
GRCh38 GRCh37 |
403 | 575 | |
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) |
|
Mar 18, 2022 | RCV001982176.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023