ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.3(chr19:259395-819679)x3
Germline
Classification
(1)
Pathogenic
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 | |||
BSG | - | - |
GRCh38 GRCh37 |
28 | 60 | |
BSG-AS1 | - | - | - | GRCh38 | - | 9 |
C2CD4C | - | - |
GRCh38 GRCh37 |
42 | 74 | |
CDC34 | - | - |
GRCh38 GRCh37 |
12 | 45 | |
CIMAP1D | - | - | - |
GRCh38 GRCh37 |
38 | 62 |
FGF22 | - | - |
GRCh38 GRCh37 |
20 | 57 | |
FSTL3 | - | - |
GRCh38 GRCh37 |
17 | 56 | |
GZMM | - | - |
GRCh38 GRCh37 |
26 | 60 | |
HCN2 | - | - |
GRCh38 GRCh37 |
168 | 208 | |
LOC101928450 | - | - | - | GRCh38 | - | 10 |
There are 66 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
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051144.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024