"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "KBTBD13"[g - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671700	NM_001101362.3(KBTBD13):c.212C>A (p.Ala71Glu)	KBTBD13 (A71E)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 464359	NM_001101362.3(KBTBD13):c.477del (p.Ala159_Val160insTer)	KBTBD13	Deletion (frameshift variant)	Nemaline myopathy 6	GUncertain significance
Select item 963231	NM_001101362.3(KBTBD13):c.496G>C (p.Ala166Pro)	KBTBD13 (A166P)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance

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