"Revvity Omics, Revvity"[submitter] AND "MYO6"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433972	NM_004999.4(MYO6):c.1139G>T (p.Gly380Val)	MYO6 (G375V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433971	NM_004999.4(MYO6):c.1578G>A (p.Leu526=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1323316	NM_004999.4(MYO6):c.1983+1G>A	MYO6	Single nucleotide variant (splice donor variant)	MYO6-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1309812	NM_004999.4(MYO6):c.2000G>A (p.Arg667His)	MYO6 (R662H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433974	NM_004999.4(MYO6):c.2060C>T (p.Ser687Phe)	MYO6 (S682F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1324768	NM_004999.4(MYO6):c.3142C>T (p.Gln1048Ter)	MYO6 (Q1048* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2433973	NM_004999.4(MYO6):c.3176G>A (p.Arg1059Lys)	MYO6 (R1059K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar