ARL2-SNX15

ARL2-SNX15 readthrough (NMD candidate)

Basic information

Region (hg38): 11:65014182-65040570

Links

ENSG00000273003 ∙ NCBI:100528018 ∙ ∙ HGNC:49197 ∙ ∙ ∙ 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 ARL2-SNX15 gene.

• Inborn genetic diseases (23 variants)
• Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARL2-SNX15 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	1		20	3		24
Total	1	0	20	3	0

Highest pathogenic variant AF is 0.0000591

Variants in ARL2-SNX15

This is a list of pathogenic ClinVar variants found in the ARL2-SNX15 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-65014236-T-C		not specified	Uncertain significance (Dec 15, 2023)
11-65014251-G-T		Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1	Pathogenic (Oct 13, 2021)
11-65018416-G-A		not specified	Uncertain significance (Oct 05, 2023)
11-65018422-G-A		not specified	Uncertain significance (Feb 06, 2023)
11-65018615-G-A		not specified	Uncertain significance (Dec 14, 2022)
11-65018681-G-A		not specified	Likely benign (Nov 18, 2022)
11-65018710-C-A		not specified	Uncertain significance (Jan 23, 2024)
11-65020495-G-A		not specified	Uncertain significance (Oct 27, 2022)
11-65020496-C-T		ARL2-related condition	Likely benign (May 03, 2024)
11-65020498-A-T		not specified	Uncertain significance (Jun 22, 2021)
11-65021742-C-T		not specified	Uncertain significance (Feb 15, 2023)
11-65021743-G-A		not specified	Uncertain significance (Jan 31, 2022)
11-65021778-G-A		not specified	Uncertain significance (May 21, 2024)
11-65021800-C-T		not specified	Likely benign (Aug 16, 2022)
11-65027625-G-C		not specified	Uncertain significance (Dec 15, 2022)
11-65032452-A-G		not specified	Uncertain significance (Jun 29, 2023)
11-65032455-G-A		not specified	Uncertain significance (Dec 27, 2023)
11-65032461-C-A		not specified	Uncertain significance (Feb 28, 2024)
11-65032495-G-A		not specified	Uncertain significance (Feb 28, 2024)
11-65034865-T-G		not specified	Uncertain significance (May 08, 2024)
11-65034876-C-T		not specified	Uncertain significance (Jun 06, 2023)
11-65034904-G-A		not specified	Uncertain significance (Aug 22, 2022)
11-65034922-C-G		not specified	Uncertain significance (Jan 23, 2023)
11-65035116-C-A		not specified	Uncertain significance (Mar 07, 2024)
11-65035116-C-T		not specified	Uncertain significance (May 31, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Molecular function: GTP binding