ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q25.1(chr15:79552851-80526230)x3
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 | |||
ARNT2 | - | - |
GRCh38 GRCh37 |
187 | 215 | |
ARNT2-DT | - | - | - | GRCh38 | - | 3 |
BCL2A1 | - | - |
GRCh38 GRCh37 |
2 | 37 | |
CTXND1 | - | - | - | GRCh38 | 1 | 4 |
FAH | - | - |
GRCh38 GRCh37 |
717 | 785 | |
LINC00927 | - | - | - | GRCh38 | - | 3 |
LOC108281191 | - | - | - | GRCh38 | - | 4 |
LOC112272621 | - | - | - | GRCh38 | - | 43 |
LOC125138295 | - | - | - | GRCh38 | - | 4 |
LOC126862190 | - | - | - | GRCh38 | - | 16 |
There are 30 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052107.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023