"Rady Children's Institute for Genomic Medicine, Rady Children's Hospi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 986346	NM_001080467.3(MYO5B):c.1303G>A (p.Gly435Arg)	MYO5B (G435R)	Single nucleotide variant (missense variant)	Congenital microvillous atrophy	GLikely pathogenic
Select item 986347	NM_001080467.3(MYO5B):c.947G>T (p.Gly316Val)	MYO5B (G316V)	Single nucleotide variant (missense variant)	Congenital microvillous atrophy	GLikely pathogenic