"AiLife Diagnostics, AiLife Diagnostics"[submitter] AND "LOC126806067" - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1677882	NM_001035.3(RYR2):c.3860A>C (p.Gln1287Pro)	LOC126806067, RYR2 (Q1287P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 923110	NM_001035.3(RYR2):c.3866C>A (p.Ser1289Tyr)	LOC126806067, RYR2 (S1289Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 572992	NM_001035.3(RYR2):c.3920C>T (p.Pro1307Leu)	LOC126806067, RYR2 (P1307L)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance

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