NRP2-AS1

Basic information

Region (hg38): 2:205756469-205764006

Links

ENSG00000225216 ∙ ∙ ∙ HGNC:40415 ∙ ∙ ∙ 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 NRP2-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NRP2-AS1 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						0
Total	0	0	0	0	0

Variants in NRP2-AS1

This is a list of pathogenic ClinVar variants found in the NRP2-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-205763651-CTGTTTGGGTT-C		NRP2-related disorder	Likely benign (Mar 25, 2022)
2-205763675-T-C		NRP2-related disorder	Likely benign (Jul 27, 2021)
2-205763718-G-A		not specified	Uncertain significance (Dec 03, 2024)
2-205763719-G-A		not specified • NRP2-related disorder	Uncertain significance (Jul 05, 2022)
2-205763744-C-T		NRP2-related disorder	Likely benign (Feb 15, 2023)
2-205763745-C-A		NRP2-related disorder	Uncertain significance (Oct 27, 2023)
2-205763745-C-G		NRP2-related disorder	Uncertain significance (Jan 29, 2024)
2-205763746-CT-C		Inborn genetic diseases • NRP2-related disorder	Likely pathogenic (Jul 03, 2016)
2-205763753-C-T		NRP2-related disorder	Likely benign (-)
2-205763757-C-T		not specified	Uncertain significance (Oct 09, 2024)
2-205763760-C-G		not specified	Uncertain significance (May 04, 2022)
2-205763761-G-A		NRP2-related disorder • not specified	Likely benign (Dec 30, 2024)
2-205763768-G-A		NRP2-related disorder	Likely benign (Jul 19, 2021)
2-205763771-G-A		NRP2-related disorder	Likely benign (May 07, 2024)
2-205763801-C-A		NRP2-related disorder	Likely benign (May 26, 2021)
2-205763803-G-A		NRP2-related disorder	Uncertain significance (Jul 02, 2024)
2-205763825-G-A		NRP2-related disorder	Likely benign (Nov 30, 2022)
2-205763883-G-A		not specified	Likely benign (Feb 16, 2023)
2-205763888-G-C		NRP2-related disorder	Uncertain significance (Sep 19, 2024)
2-205763900-G-A		NRP2-related disorder	Likely benign (Nov 09, 2021)
2-205763901-C-A		NRP2-related disorder	Likely benign (Sep 17, 2024)
2-205763907-A-G		NRP2-related disorder	Uncertain significance (Mar 25, 2024)
2-205763908-T-C		NRP2-related disorder	Uncertain significance (Jun 05, 2024)
2-205763914-C-A		not specified • NRP2-related disorder	Uncertain significance (Aug 14, 2023)
2-205763942-G-A		NRP2-related disorder	Likely benign (Jun 24, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP