"OMIM"[submitter] AND "MYO6"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8578	NM_004999.4(MYO6):c.36dup (p.Thr13fs)	MYO6 (T13fs)	Duplication (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37	GPathogenic
Select item 8580	NM_004999.4(MYO6):c.647A>T (p.Glu216Val)	MYO6 (E216V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +2 more	GUncertain significance
Select item 8581	NM_004999.4(MYO6):c.737A>G (p.His246Arg)	MYO6 (H246R +1 more)	Single nucleotide variant (missense variant +1 more)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 8577	NM_004999.4(MYO6):c.1325G>A (p.Cys442Tyr)	MYO6 (C442Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22	GPathogenic
Select item 8583	NM_004999.4(MYO6):c.2417-1758T>G	MYO6	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 22	GPathogenic
Select item 8582	NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter)	MYO6 (R849* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 8579	NM_004999.4(MYO6):c.3496C>T (p.Arg1166Ter)	MYO6 (R1166* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic

ClinVar