"Centre for Genomic and Experimental Medicine, University of Edinburgh - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161316	NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)	MYH11, NDE1 (R1758Q +1 more)	Single nucleotide variant (intron variant +1 more)	not provided +3 more	GUncertain significance
Select item 36622	NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)	NDE1, MYH11 (K1628Q +1 more)	Single nucleotide variant (intron variant +1 more)	Visceral myopathy 2 +6 more	GUncertain significance