ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.3(chr19:4417986-4721866)x1
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 | |||
CHAF1A | - | - |
GRCh38 GRCh37 |
65 | 120 | |
DPP9 | - | - |
GRCh38 GRCh37 |
28 | 97 | |
DPP9-AS1 | - | - | - | GRCh38 | - | 22 |
HDGFL2 | - | - | GRCh38 | 6 | 16 | |
LOC121627850 | - | - | - | GRCh38 | - | 11 |
LOC121627851 | - | - | - | GRCh38 | - | 10 |
LOC121852974 | - | - | - | GRCh38 | - | 10 |
LOC125371457 | - | - | - | GRCh38 | - | 10 |
LOC126862840 | - | - | - | GRCh38 | - | 14 |
LOC126862841 | - | - | - | GRCh38 | - | 23 |
There are 25 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) |
|
Aug 12, 2011 | RCV000051190.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024