SPMIP9

Basic information

Region (hg38): 2:88524649-88529585

Links

ENSG00000172073 ∙ ∙ ∙ HGNC:26341 ∙ ∙ ∙ 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 SPMIP9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPMIP9 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 SPMIP9

This is a list of pathogenic ClinVar variants found in the SPMIP9 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-88526426-T-C		not specified	Uncertain significance (Sep 20, 2023)
2-88526490-C-T		not specified	Likely benign (Dec 01, 2022)
2-88529081-C-A		not specified	Uncertain significance (Apr 22, 2024)
2-88529106-A-G		not specified	Uncertain significance (Oct 06, 2021)
2-88529109-C-G		not specified	Uncertain significance (Oct 19, 2024)
2-88529131-G-C		not specified	Uncertain significance (Dec 03, 2021)
2-88529137-C-T		not specified	Uncertain significance (Dec 04, 2024)
2-88529152-C-T		not specified	Uncertain significance (Jun 04, 2024)
2-88529167-A-G		not specified	Likely benign (Apr 06, 2024)
2-88529181-C-T		not specified	Uncertain significance (Dec 19, 2023)
2-88529188-T-G		not specified	Uncertain significance (Oct 12, 2024)
2-88529226-G-A		not specified	Likely benign (Oct 20, 2023)
2-88529305-A-G		not specified	Likely benign (Nov 11, 2024)
2-88529337-G-C		not specified	Likely benign (Aug 22, 2023)
2-88529349-C-T		not specified	Uncertain significance (Dec 21, 2022)
2-88529355-C-T		not specified	Uncertain significance (Mar 29, 2022)
2-88529442-C-T		not specified	Uncertain significance (Aug 13, 2021)
2-88529452-C-G		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP