ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1
Germline
Classification
(1)
Likely 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 | |
BSPH1 | - | - |
GRCh38 GRCh37 |
11 | 25 | |
C5AR1 | - | - |
GRCh38 GRCh37 |
22 | 40 | |
C5AR2 | - | - |
GRCh38 GRCh37 |
40 | 58 | |
CALM3 | - | - |
GRCh38 GRCh37 |
155 | 176 | |
CCDC61 | - | - | - |
GRCh38 GRCh37 |
- | 15 |
CCDC8 | - | - |
GRCh38 GRCh37 |
181 | 191 |
There are 39 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 16, 2015 | RCV000511362.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022