MYO18B-AS1

MYO18B antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 22:25876854-25903247

Links

ENSG00000231933 ∙ NCBI:105372963 ∙ ∙ HGNC:40831 ∙ ∙ ∙ 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 MYO18B-AS1 gene.

• not provided (141 variants)
• Inborn genetic diseases (8 variants)
• Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO18B-AS1 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		3	3		7
splice region						0
non coding	6	1	56	49	24	136
Total	7	1	59	52	24

Highest pathogenic variant AF is 0.0000197

Variants in MYO18B-AS1

This is a list of pathogenic ClinVar variants found in the MYO18B-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-25877687-C-T			Benign (Nov 12, 2018)
22-25877822-T-C			Benign (Nov 12, 2018)
22-25877867-A-C			Benign (Nov 12, 2018)
22-25877869-G-T			Benign (Nov 12, 2018)
22-25877883-G-C			Benign (Nov 12, 2018)
22-25877922-C-T			Benign (Nov 12, 2018)
22-25877926-G-C			Benign (Nov 12, 2018)
22-25877941-A-C			Likely benign (Mar 16, 2022)
22-25877943-G-A			Likely benign (Jan 08, 2023)
22-25877949-G-C			Likely benign (Apr 26, 2021)
22-25877958-G-A			Likely pathogenic (Jan 24, 2023)
22-25877960-A-T			Uncertain significance (Oct 13, 2023)
22-25877972-C-T			Uncertain significance (Dec 30, 2023)
22-25877973-G-A			Likely benign (Nov 23, 2022)
22-25877976-A-C			Likely benign (Aug 11, 2023)
22-25877980-C-T			Uncertain significance (Apr 10, 2024)
22-25877981-G-A		MYO18B-related disorder	Benign (Jan 24, 2024)
22-25877998-G-C			Uncertain significance (Mar 02, 2022)
22-25878007-C-T		Inborn genetic diseases	Uncertain significance (Apr 19, 2023)
22-25878008-G-A		MYO18B-related disorder	Uncertain significance (Oct 13, 2022)
22-25878011-A-G			Uncertain significance (Jul 14, 2022)
22-25878019-C-T			Uncertain significance (Jun 15, 2022)
22-25878027-C-T			Likely benign (Apr 10, 2022)
22-25878031-G-A			Uncertain significance (Aug 15, 2022)
22-25878058-T-A		Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	Benign/Likely benign (Jan 29, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP