ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)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 | |||
BICRA | - | - |
GRCh38 GRCh37 |
282 | 311 | |
BICRA-AS2 | - | - | - | GRCh38 | - | 7 |
C5AR1 | - | - |
GRCh38 GRCh37 |
31 | 49 | |
C5AR2 | - | - |
GRCh38 GRCh37 |
47 | 65 | |
CCDC9 | - | - | - |
GRCh38 GRCh37 |
57 | 96 |
CRX | - | - |
GRCh38 GRCh37 |
511 | 534 | |
DHX34 | - | - |
GRCh38 GRCh37 |
162 | 180 | |
EHD2 | - | - |
GRCh38 GRCh37 |
26 | 44 | |
INAFM1 | - | - | - |
GRCh38 GRCh37 |
- | 38 |
KPTN | - | - |
GRCh38 GRCh37 |
158 | 178 |
There are 48 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 24, 2023 | RCV003327689.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024