C0546264[trait identifier] AND "GenomeConnect - Invitae Patient Insigh - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 42922	NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)	MYH7 (E894G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 1003930	NM_000257.4(MYH7):c.76G>A (p.Ala26Thr)	MYH7 (A26T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 544416	NM_000540.3(RYR1):c.82C>T (p.Leu28Phe)	RYR1 (L28F)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GUncertain significance
Select item 133076	NM_000540.3(RYR1):c.1453A>G (p.Met485Val)	LOC129391106, RYR1 (M485V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 544410	NM_000540.3(RYR1):c.3043C>T (p.Arg1015Cys)	RYR1 (R1015C)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GUncertain significance
Select item 544388	NM_000540.3(RYR1):c.3145G>A (p.Gly1049Ser)	RYR1 (G1049S)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1009361	NM_000540.3(RYR1):c.5962G>A (p.Ala1988Thr)	RYR1 (A1988T)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 660051	NM_000540.3(RYR1):c.6891+3G>T	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 133043	NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)	RYR1 (A4295V +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 544446	NM_000540.3(RYR1):c.13069C>A (p.Leu4357Met)	RYR1 (L4357M +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance