ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)
Germline
Classification
(1)
Pathogenic
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 | |
BICRA | - | - |
GRCh38 GRCh37 |
283 | 312 | |
BSPH1 | - | - |
GRCh38 GRCh37 |
12 | 26 | |
C5AR1 | - | - |
GRCh38 GRCh37 |
31 | 49 | |
C5AR2 | - | - |
GRCh38 GRCh37 |
47 | 65 | |
CALM3 | - | - |
GRCh38 GRCh37 |
157 | 178 | |
CCDC9 | - | - | - |
GRCh38 GRCh37 |
57 | 96 |
CRX | - | - |
GRCh38 GRCh37 |
511 | 534 |
There are 25 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767770.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022