CRYZL2P-SEC16B

CRYZL2P-SEC16B readthrough

Basic information

Region (hg38): 1:177928788-178038007

Links

ENSG00000254154 ∙ NCBI:111240474 ∙ ∙ HGNC:53757 ∙ ∙ ∙ 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 CRYZL2P-SEC16B gene.

• Inborn genetic diseases (50 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRYZL2P-SEC16B 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)			1			1
splice region						0
non coding			44	8	4	56
Total	0	0	45	8	4

Variants in CRYZL2P-SEC16B

This is a list of pathogenic ClinVar variants found in the CRYZL2P-SEC16B region.

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

Position	Type	Phenotype	Significance	ClinVar
1-177929895-C-T		not specified	Uncertain significance (May 24, 2024)
1-177929905-G-A		not specified	Uncertain significance (Oct 05, 2022)
1-177929910-A-G		not specified	Uncertain significance (May 15, 2024)
1-177929920-C-T		not specified	Uncertain significance (Jul 26, 2024)
1-177930553-C-G		not specified	Uncertain significance (May 30, 2023)
1-177930562-G-T		not specified	Uncertain significance (Sep 27, 2024)
1-177930564-T-C			Benign (Jul 15, 2018)
1-177930595-G-A		not specified	Uncertain significance (Mar 15, 2024)
1-177930595-G-T		not specified	Uncertain significance (Nov 08, 2021)
1-177932495-G-A		not specified	Uncertain significance (Dec 03, 2024)
1-177932495-G-C		not specified	Uncertain significance (Oct 24, 2024)
1-177932506-C-A		not specified	Uncertain significance (Nov 15, 2021)
1-177932516-C-G		not specified	Uncertain significance (Dec 22, 2023)
1-177932524-G-A		not specified	Uncertain significance (Oct 04, 2024)
1-177932546-C-T		not specified	Likely benign (May 15, 2024)
1-177932554-C-T		not specified	Likely benign (Dec 21, 2022)
1-177932748-G-A		not specified	Uncertain significance (Apr 20, 2024)
1-177932764-G-A		not specified	Uncertain significance (Jun 25, 2024)
1-177932802-G-T		not specified	Uncertain significance (Jun 06, 2023)
1-177933233-G-A			Benign (Jul 15, 2018)
1-177933239-T-C		not specified	Uncertain significance (Dec 04, 2023)
1-177933242-T-C		not specified	Uncertain significance (Mar 01, 2024)
1-177933278-G-A		not specified	Uncertain significance (Aug 21, 2023)
1-177933521-T-C		not specified	Likely benign (Jan 16, 2024)
1-177933533-C-T		not specified	Likely benign (Feb 02, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP