ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3
Germline
Classification
(1)
Pathogenic
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 | |||
AP2S1 | - | - |
GRCh38 GRCh37 |
113 | 129 | |
ARHGAP35 | - | - |
GRCh38 GRCh37 |
59 | 76 | |
BBC3 | - | - |
GRCh38 GRCh37 |
5 | 32 | |
BICRA | - | - |
GRCh38 GRCh37 |
209 | 233 | |
BICRA-AS2 | - | - | - | GRCh38 | - | 7 |
BLOC1S3 | - | - |
GRCh38 GRCh37 |
169 | 203 | |
BSPH1 | - | - |
GRCh38 GRCh37 |
11 | 25 | |
C5AR1 | - | - |
GRCh38 GRCh37 |
22 | 40 | |
C5AR2 | - | - |
GRCh38 GRCh37 |
40 | 58 | |
CABP5 | - | - |
GRCh38 GRCh37 |
10 | 22 |
There are 355 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000136578.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023