ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.32(chr19:47228251-47867279)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 | |||
AP2S1 | - | - |
GRCh38 GRCh37 |
113 | 129 | |
ARHGAP35 | - | - |
GRCh38 GRCh37 |
75 | 92 | |
BBC3 | - | - |
GRCh38 GRCh37 |
8 | 38 | |
C5AR1 | - | - |
GRCh38 GRCh37 |
31 | 49 | |
C5AR2 | - | - |
GRCh38 GRCh37 |
47 | 65 | |
CCDC9 | - | - | - |
GRCh38 GRCh37 |
57 | 96 |
DHX34 | - | - |
GRCh38 GRCh37 |
161 | 179 | |
FKRP | - | - |
GRCh38 GRCh37 |
1036 | 1078 | |
INAFM1 | - | - | - |
GRCh38 GRCh37 |
- | 38 |
NPAS1 | - | - |
GRCh38 GRCh37 |
31 | 46 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 31, 2017 | RCV000585171.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 24, 2022