"Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg Univer - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1331610	NM_001256012.3(MYH10):c.4884+1G>A	MYH10	Single nucleotide variant (splice donor variant)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 625873	NM_001256012.3(MYH10):c.4505G>C (p.Arg1502Pro)	MYH10 (R1502P +3 more)	Single nucleotide variant (missense variant)	Congenital ocular coloboma +6 more	GPathogenic
Select item 3235270	NM_001256012.3(MYH10):c.3352AAG[1] (p.Lys1119del)	MYH10 (K1088del +3 more)	Microsatellite (inframe_deletion)	See cases	GPathogenic

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