ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)
Germline
Classification
(1)
Likely 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 |
117 | 133 | |
ARHGAP35 | - | - |
GRCh38 GRCh37 |
81 | 98 | |
BBC3 | - | - |
GRCh38 GRCh37 |
8 | 40 | |
BICRA | - | - |
GRCh38 GRCh37 |
339 | 370 | |
C5AR1 | - | - |
GRCh38 GRCh37 |
34 | 52 | |
C5AR2 | - | - |
GRCh38 GRCh37 |
50 | 68 | |
CALM3 | - | - |
GRCh38 GRCh37 |
158 | 179 | |
CCDC9 | - | - | - |
GRCh38 GRCh37 |
64 | 104 |
DACT3 | - | - |
GRCh38 GRCh37 |
43 | 67 | |
DHX34 | - | - |
GRCh38 GRCh37 |
175 | 193 |
There are 17 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) |
|
Jan 18, 2023 | RCV003232036.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024