NAV2-AS2

NAV2 antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 11:20029065-20049477

Links

ENSG00000254453 ∙ ∙ ∙ HGNC:40743 ∙ ∙ ∙ 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 NAV2-AS2 gene.

• Inborn genetic diseases (25 variants)
• not provided (4 variants)
• NAV2-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NAV2-AS2 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			26	1	3	30
Total	0	0	26	1	3

Variants in NAV2-AS2

This is a list of pathogenic ClinVar variants found in the NAV2-AS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-20035969-A-G		NAV2-related disorder	Uncertain significance (Jun 20, 2024)
11-20036011-C-T			Uncertain significance (Nov 18, 2022)
11-20036047-A-C		not specified	Uncertain significance (Oct 09, 2024)
11-20036056-G-A		not specified	Uncertain significance (Jan 27, 2022)
11-20044012-G-A		not specified	Uncertain significance (Jan 23, 2024)
11-20044048-C-T		not specified	Uncertain significance (Nov 15, 2024)
11-20044071-A-G		not specified	Uncertain significance (Nov 03, 2023)
11-20044099-G-T		not specified	Uncertain significance (Oct 13, 2023)
11-20044102-G-A		not specified	Uncertain significance (Jan 03, 2024)
11-20044108-C-G		not specified	Uncertain significance (Dec 09, 2024)
11-20044127-G-T		NAV2-related disorder	Benign (May 12, 2023)
11-20044188-C-T		NAV2-related disorder	Uncertain significance (Apr 18, 2023)
11-20044212-A-G		not specified	Uncertain significance (Jun 06, 2023)
11-20044227-A-G		not specified	Uncertain significance (Jul 25, 2023)
11-20044229-G-A			Likely benign (May 01, 2022)
11-20044251-G-A		not specified	Likely benign (Nov 13, 2023)
11-20044267-G-T		not specified	Uncertain significance (Aug 02, 2021)
11-20044982-G-A		not specified	Uncertain significance (Jun 03, 2022)
11-20045034-G-A		not specified	Uncertain significance (Feb 10, 2022)
11-20045040-C-T		not specified	Uncertain significance (Aug 15, 2023)
11-20045045-G-A		not specified	Uncertain significance (Feb 26, 2025)
11-20045046-A-G		not specified	Uncertain significance (May 17, 2023)
11-20045152-C-T		NAV2-related disorder	Likely benign (Dec 30, 2019)
11-20045159-G-A		NAV2-related disorder	Benign (Nov 07, 2019)
11-20045183-G-A		not specified	Uncertain significance (May 17, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP