CIMIP4

Basic information

Region (hg38): 22:36991120-37007851

Links

ENSG00000185264 ∙ ∙ ∙ HGNC:28568 ∙ ∙ ∙ 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 CIMIP4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CIMIP4 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 CIMIP4

This is a list of pathogenic ClinVar variants found in the CIMIP4 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-36991190-A-C		not specified	Uncertain significance (Sep 27, 2022)
22-36991204-C-T		not specified	Uncertain significance (Nov 07, 2022)
22-36991210-T-A		not specified	Uncertain significance (Aug 16, 2021)
22-36991221-C-A		not specified	Uncertain significance (Jan 23, 2024)
22-36991242-G-C		not specified	Uncertain significance (Sep 21, 2021)
22-36991274-G-A		not specified	Uncertain significance (May 16, 2022)
22-36999842-C-T		not specified	Likely benign (Feb 06, 2023)
22-36999857-C-T		not specified	Uncertain significance (Mar 15, 2024)
22-36999858-G-A		not specified	Uncertain significance (Feb 22, 2023)
22-36999881-T-A		not specified	Uncertain significance (May 31, 2023)
22-36999894-C-T		not specified	Likely benign (Mar 01, 2023)
22-36999897-A-C		not specified	Uncertain significance (Mar 07, 2023)
22-36999962-A-G		not specified	Likely benign (May 18, 2023)
22-37001860-C-T		not specified	Uncertain significance (Dec 15, 2022)
22-37001928-G-A		not specified	Uncertain significance (Aug 13, 2021)
22-37001943-T-G		not specified	Uncertain significance (Apr 09, 2024)
22-37001965-C-T		not specified	Uncertain significance (Nov 18, 2022)
22-37002000-G-A		not specified	Likely benign (Apr 08, 2024)
22-37002003-G-A		not specified	Uncertain significance (Jan 09, 2024)
22-37002037-C-A		not specified	Uncertain significance (Mar 29, 2023)
22-37002039-G-A		not specified	Uncertain significance (Dec 09, 2023)
22-37002109-G-A		not specified	Uncertain significance (Mar 14, 2023)
22-37002127-G-C		not specified	Uncertain significance (May 31, 2023)
22-37002150-T-C		not specified	Likely benign (Mar 19, 2024)
22-37002205-A-G		not specified	Uncertain significance (Jun 12, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP