MYH9-DT

MYH9 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 22:36387774-36424052

Links

ENSG00000223695 ∙ NCBI:105377199 ∙ ∙ HGNC:55867 ∙ ∙ ∙ 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 MYH9-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYH9-DT 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 MYH9-DT

This is a list of pathogenic ClinVar variants found in the MYH9-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
22-36387873-C-A		Autosomal dominant nonsyndromic hearing loss 17 • MYH9-related disorder	Uncertain significance (Jan 12, 2018)
22-36387940-G-A		MYH9-related disorder • Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 12, 2018)
22-36387950-G-C		Autosomal dominant nonsyndromic hearing loss 17 • MYH9-related disorder	Uncertain significance (Jan 13, 2018)
22-36387969-C-A		MYH9-related disorder • Nonsyndromic Hearing Loss, Dominant	Uncertain significance (Jun 14, 2016)
22-36387988-C-T		Nonsyndromic Hearing Loss, Dominant • MYH9-related disorder	Likely benign (Jun 14, 2016)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP