C0341306[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679140	NM_001080467.3(MYO5B):c.4090C>T (p.Gln1364Ter)	MYO5B (Q1364*)	Single nucleotide variant (nonsense)	Congenital microvillous atrophy	GPathogenic
Select item 327048	NM_001080467.3(MYO5B):c.2228G>A (p.Arg743His)	MYO5B (R743H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign