ClinVar Genomic variation as it relates to human health
NM_003736.4(PCDHGB4):c.1838G>C (p.Gly613Ala)
Germline
Classification
(1)
Benign
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 | - | 1153 | |
PCDHGA1 | - | - |
GRCh38 GRCh37 |
- | 1166 | |
PCDHGA2 | - | - |
GRCh38 GRCh37 |
- | 1114 | |
PCDHGA3 | - | - |
GRCh38 GRCh37 |
- | 1056 | |
PCDHGA4 | - | - |
GRCh38 GRCh37 |
- | 944 | |
PCDHGA5 | - | - |
GRCh38 GRCh37 |
- | 844 | |
PCDHGA6 | - | - |
GRCh38 GRCh37 |
- | 727 | |
PCDHGA7 | - | - |
GRCh38 GRCh37 |
- | 672 | |
PCDHGB1 | - | - |
GRCh38 GRCh37 |
- | 997 | |
PCDHGB2 | - | - |
GRCh38 GRCh37 |
- | 886 |
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 |
---|---|---|---|---|
Benign (1) |
|
Nov 1, 2022 | RCV003429847.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024