C1863659[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14073	NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)	MYH9 (E1841K)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 14082	NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)	MYH9 (D1424N)	Single nucleotide variant (missense variant)	MYH9-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 14074	NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)	MYH9 (R1165C)	Single nucleotide variant (missense variant)	MYH9-related disorder +4 more	GPathogenic
Select item 14079	NM_002473.6(MYH9):c.2114G>A (p.Arg705His)	MYH9 (R705H)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more	GPathogenic/Likely pathogenic
Select item 14078	NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)	MYH9 (R702C)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GPathogenic
Select item 14083	NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)	MYH9 (S96L)	Single nucleotide variant (missense variant)	MYH9-related disorder +2 more	GPathogenic/Likely pathogenic

ClinVar