"Gharavi Laboratory, Columbia University"[submitter] AND "MYO1E"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 591901	NM_004998.4(MYO1E):c.3141_3152del (p.Lys1048_Pro1051del)	LOC112272600, MYO1E	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 591186	NM_004998.4(MYO1E):c.1669C>T (p.Arg557Cys)	MYO1E (R557C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591884	NM_004998.4(MYO1E):c.386T>C (p.Ile129Thr)	MYO1E (I129T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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