TMEM217B

transmembrane protein 217B

Basic information

Region (hg38): 6:37212181-37258144

Links

ENSG00000286105 ∙ ∙ ∙ HGNC:55922 ∙ Uniprot:A0A494BZU4 ∙ AlphaFold ∙ 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 TMEM217B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM217B 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				1		1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			10		3	13
Total	0	0	10	1	3

Variants in TMEM217B

This is a list of pathogenic ClinVar variants found in the TMEM217B region.

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

Position	Type	Phenotype	Significance	ClinVar
6-37212768-T-C			Likely benign (Feb 01, 2023)
6-37218513-T-C		not specified	Uncertain significance (Jul 12, 2022)
6-37218516-G-A		not specified	Uncertain significance (Mar 23, 2023)
6-37218560-C-T			Benign (Apr 10, 2018)
6-37218561-C-T		not specified	Likely benign (Apr 29, 2024)
6-37218562-G-A		not specified	Uncertain significance (Mar 22, 2023)
6-37218612-C-G		not specified	Uncertain significance (Nov 10, 2022)
6-37218615-T-C		not specified	Uncertain significance (Jun 16, 2024)
6-37218636-A-C		not specified	Uncertain significance (Nov 01, 2022)
6-37218661-C-T		not specified	Uncertain significance (Apr 04, 2024)
6-37218737-A-G			Benign (Apr 10, 2018)
6-37218738-A-G		not specified	Uncertain significance (Aug 12, 2024)
6-37218917-C-T			Benign (Feb 26, 2018)
6-37218948-A-G		not specified	Uncertain significance (Jul 26, 2022)
6-37218963-A-G		not specified	Uncertain significance (May 25, 2022)
6-37218973-C-A		not specified	Uncertain significance (Jul 28, 2021)
6-37218985-C-T		not specified	Uncertain significance (Dec 01, 2022)
6-37218990-C-T		not specified	Uncertain significance (Dec 08, 2024)
6-37257924-G-T		not specified	Uncertain significance (Sep 27, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP