ClinVar for MedGen (Select 488945) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523453	NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly)	MYH9 (D1424G)	Single nucleotide variant (missense variant)	MYH9-related disorder +10 more	GLikely pathogenic
Select item 523249	GRCh37/hg19 15q11.2(chr15:22765628-23300287)	CYFIP1, NIPA1 +2 more	Copy number loss	Abnormal facial shape +9 more	GPathogenic