ClinVar Genomic variation as it relates to human health
NM_018925.3(PCDHGB5):c.1104T>G (p.His368Gln)
Germline
Classification
(1)
Uncertain significance
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 | |||
PCDHGA8 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
- | 563 | |
PCDHG@ | - | - | GRCh38 | - | 1158 | |
PCDHGA1 | - | - |
GRCh38 GRCh37 |
- | 1171 | |
PCDHGA2 | - | - |
GRCh38 GRCh37 |
- | 1119 | |
PCDHGA3 | - | - |
GRCh38 GRCh37 |
- | 1061 | |
PCDHGA4 | - | - |
GRCh38 GRCh37 |
- | 948 | |
PCDHGA5 | - | - |
GRCh38 GRCh37 |
- | 848 | |
PCDHGA6 | - | - |
GRCh38 GRCh37 |
- | 730 | |
PCDHGA7 | - | - |
GRCh38 GRCh37 |
- | 675 | |
PCDHGB1 | - | - |
GRCh38 GRCh37 |
- | 1002 |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 7, 2023 | RCV004310654.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 30, 2024