NRBF2P6

NRBF2 pseudogene 6

Basic information

Region (hg38): 2:232343116-232343903

Links

ENSG00000251485 ∙ NCBI:730069 ∙ ∙ HGNC:54797 ∙ ∙ ∙ 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 NRBF2P6 gene.

• not provided (10 variants)
• Perlman syndrome (7 variants)
• DIS3L2-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NRBF2P6 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			6	5	5	16
Total	0	0	6	5	5

Variants in NRBF2P6

This is a list of pathogenic ClinVar variants found in the NRBF2P6 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-232343152-C-T			Benign (Feb 24, 2019)
2-232343267-C-G			Benign (Feb 24, 2019)
2-232343350-C-T		Perlman syndrome	Likely benign (Sep 01, 2024)
2-232343387-C-CA		Perlman syndrome	Uncertain significance (Feb 15, 2023)
2-232343395-C-G			Likely benign (Apr 01, 2022)
2-232343406-A-AT		Perlman syndrome	Uncertain significance (Feb 06, 2023)
2-232343407-T-C		Perlman syndrome	Likely benign (Jan 01, 2023)
2-232343413-A-AGGG		Perlman syndrome • DIS3L2-related disorder	Conflicting classifications of pathogenicity (Apr 01, 2025)
2-232343451-G-A		Perlman syndrome	Uncertain significance (Jun 20, 2020)
2-232343454-G-T		DIS3L2-related disorder	Uncertain significance (Jun 13, 2023)
2-232343480-C-T		DIS3L2-related disorder	Uncertain significance (May 22, 2024)
2-232343486-T-C		DIS3L2-related disorder	Uncertain significance (Feb 17, 2024)
2-232343496-A-G		Perlman syndrome	Uncertain significance (Nov 17, 2021)
2-232343543-G-A		Perlman syndrome	Uncertain significance (-)
2-232343543-G-C		Perlman syndrome	Uncertain significance (Sep 25, 2021)
2-232343578-A-C		DIS3L2-related disorder	Benign (Feb 28, 2019)
2-232343624-A-T			Likely benign (Mar 20, 2019)
2-232343654-G-A			Benign (Jun 17, 2019)
2-232343824-T-C			Benign (Feb 02, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP