ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p16.1(chr2:57802633-58951698)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 | |||
FANCL | - | - |
GRCh38 GRCh37 |
675 | 740 | |
LINC01122 | - | - | - | GRCh38 | - | 9 |
LINC01795 | - | - | - | GRCh38 | - | 7 |
LOC107984043 | - | - | - | GRCh38 | - | 6 |
LOC108281131 | - | - | - | GRCh38 | - | 6 |
LOC110120979 | - | - | - | GRCh38 | - | 7 |
LOC110120980 | - | - | - | GRCh38 | - | 7 |
LOC110121008 | - | - | - | GRCh38 | - | 7 |
LOC110121015 | - | - | - | GRCh38 | - | 7 |
LOC110121024 | - | - | - | GRCh38 | - | 8 |
There are 12 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 22, 2010 | RCV000137145.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024