ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q21.1(chr15:45032714-45592481)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 | |||
AFG2B | - | - |
GRCh38 GRCh37 |
77 | 110 | |
BLOC1S6 | - | - |
GRCh38 GRCh37 |
180 | 197 | |
C15orf48 | - | - |
GRCh38 GRCh37 |
1 | 24 | |
DUOX1 | - | - |
GRCh38 GRCh37 |
101 | 126 | |
DUOX2 | - | - |
GRCh38 GRCh37 |
1892 | 1919 | |
DUOXA1 | - | - |
GRCh38 GRCh37 |
25 | 62 | |
DUOXA2 | - | - |
GRCh38 GRCh37 |
59 | 97 | |
GATM | - | - |
GRCh38 GRCh37 |
504 | 591 | |
LOC126862118 | - | - | - | GRCh38 | - | 2 |
LOC129390695 | - | - | - | GRCh38 | - | 2 |
There are 34 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) |
|
Jul 10, 2013 | RCV000143502.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024