ClinVar Genomic variation as it relates to human health
NM_003736.4(PCDHGB4):c.1369G>T (p.Val457Phe)
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 | |||
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 | |
PCDHGB2 | - | - |
GRCh38 GRCh37 |
- | 890 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 4, 2023 | RCV004316826.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024