"ClinGen Hearing Loss Variant Curation Expert Panel"[submitter] AND "M - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178957	NM_004999.4(MYO6):c.238C>T (p.Arg80Ter)	MYO6 (R80*)	Single nucleotide variant (nonsense +1 more)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 45163	NM_004999.4(MYO6):c.475G>A (p.Glu159Lys)	MYO6 (E159K)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 45131	NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)	MYO6 (A342V +1 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 523937	NM_004999.4(MYO6):c.2751dup (p.Gln918fs)	MYO6 (Q918fs +1 more)	Duplication (frameshift variant +1 more)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 164639	NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)	MYO6 (R946C +1 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database

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