GeneBe

PCDHGB6

protocadherin gamma subfamily B, 6, the group of Clustered protocadherins

Basic information

Region (hg38): 5:141408021-141512975

Links

ENSG00000253305 ∙ NCBI:56100 ∙ OMIM:606303 ∙ HGNC:8713 ∙ Uniprot:Q9Y5F9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PCDHGB6 gene.

  • Neurodevelopmental disorder with poor growth and skeletal anomalies (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PCDHGB6 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
6
clinvar
2
clinvar
 8
missense
47
clinvar
4
clinvar
 51
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
3
clinvar
283
clinvar
25
clinvar
9
clinvar
 321
Total 1 3 330 35 11

Variants in PCDHGB6

This is a list of pathogenic ClinVar variants found in the PCDHGB6 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
5-141408285-C-T not specified Uncertain significance (Oct 06, 2021)2253249
5-141408294-A-G not specified Uncertain significance (Sep 23, 2023)3210096
5-141408309-C-T not specified Uncertain significance (Apr 13, 2022)2284117
5-141408321-A-G not specified Uncertain significance (Aug 22, 2023)2621467
5-141408401-C-A Benign (May 31, 2018)716118
5-141408404-G-C not specified Uncertain significance (Dec 12, 2023)3210088
5-141408446-G-A not specified Uncertain significance (May 18, 2022)2390768
5-141408477-G-A not specified Uncertain significance (Mar 19, 2024)3305045
5-141408488-T-C not specified Uncertain significance (Apr 22, 2022)2213898
5-141408488-T-G not specified Uncertain significance (Dec 20, 2021)2372589
5-141408680-C-G not specified Uncertain significance (Dec 28, 2023)3210093
5-141408684-A-T not specified Uncertain significance (Sep 25, 2023)3210094
5-141408711-A-T not specified Uncertain significance (Dec 01, 2022)2220296
5-141408713-A-G not specified Uncertain significance (Feb 07, 2023)2481661
5-141408734-T-C not specified Uncertain significance (Mar 14, 2023)2454593
5-141408762-A-T not specified Uncertain significance (Mar 06, 2023)2455363
5-141408776-C-T not specified Uncertain significance (Jul 14, 2021)2236956
5-141408867-G-T not specified Uncertain significance (May 14, 2024)3305040
5-141408870-G-C not specified Uncertain significance (May 14, 2024)3305046
5-141408878-G-A not specified Uncertain significance (Jun 09, 2022)2294524
5-141409031-A-G not specified Uncertain significance (Feb 16, 2023)2486475
5-141409055-G-A not specified Uncertain significance (Feb 02, 2022)2381985
5-141409074-T-C not specified Uncertain significance (Oct 17, 2023)3210095
5-141409086-A-G not specified Uncertain significance (Apr 04, 2024)3305042
5-141409142-A-G not specified Uncertain significance (Feb 12, 2024)3210098

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP