"3billion"[submitter] AND "MYH9"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14074	NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)	MYH9 (R1165C)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GPathogenic
Select item 2444030	NM_002473.6(MYH9):c.3193G>T (p.Ala1065Ser)	MYH9 (A1065S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 2444181	NM_002473.6(MYH9):c.2548A>G (p.Lys850Glu)	MYH9 (K850E)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 2444168	NM_002473.6(MYH9):c.2440C>T (p.Arg814Trp)	MYH9 (R814W)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 14081	NM_002473.6(MYH9):c.2105G>A (p.Arg702His)	MYH9 (R702H)	Single nucleotide variant (missense variant)	MYH9-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 14078	NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)	MYH9 (R702C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +3 more	GPathogenic

ClinVar