ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.32-13.33(chr19:47253630-47744714)x3
Germline
Classification
(1)
Likely benign
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 | |||
BICRA | - | - |
GRCh38 GRCh37 |
277 | 306 | |
BICRA-AS2 | - | - | - | GRCh38 | - | 7 |
C5AR1 | - | - |
GRCh38 GRCh37 |
31 | 49 | |
C5AR2 | - | - |
GRCh38 GRCh37 |
47 | 65 | |
CCDC9 | - | - | - |
GRCh38 GRCh37 |
57 | 96 |
DHX34 | - | - |
GRCh38 GRCh37 |
161 | 179 | |
EHD2 | - | - |
GRCh38 GRCh37 |
26 | 44 | |
INAFM1 | - | - | - |
GRCh38 GRCh37 |
- | 38 |
KPTN | - | - |
GRCh38 GRCh37 |
158 | 178 | |
LOC112552166 | - | - | - | GRCh38 | - | 5 |
There are 37 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 |
---|---|---|---|---|
Likely benign (1) |
|
Sep 21, 2012 | RCV000138849.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024