C0007193[trait identifier] AND "Institute for Medical Genetics and Hum - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36476	NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	LMNA (R471H +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 973831	NM_020944.3(GBA2):c.1807T>A (p.Trp603Arg)	GBA2 (W603R)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GUncertain significance
Select item 973832	NM_020944.3(GBA2):c.1444A>C (p.Asn482His)	GBA2 (N482H)	Single nucleotide variant (missense variant)	Cerebellar ataxia +4 more	GUncertain significance

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