C0751951[trait identifier] AND "GenomeConnect, ClinGen"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374974	NM_000540.3(RYR1):c.3095G>A (p.Arg1032His)	RYR1 (R1032H)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 544388	NM_000540.3(RYR1):c.3145G>A (p.Gly1049Ser)	RYR1 (G1049S)	Single nucleotide variant (missense variant)	RYR1-related disorder +5 more	GUncertain significance
Select item 569965	NM_000540.3(RYR1):c.3200G>A (p.Arg1067His)	RYR1 (R1067H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 972951	NM_000540.3(RYR1):c.3719G>T (p.Gly1240Val)	RYR1 (G1240V)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 161374	NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser)	RYR1 (G2160S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133175	NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)	RYR1 (N2342S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 420587	NM_000540.3(RYR1):c.10219G>A (p.Ala3407Thr)	RYR1 (A3407T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 132997	NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)	RYR1 (R3539H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GLikely benign FDA Recognized database
Select item 93252	NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)	RYR1 (D4505H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 133098	NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	RYR1 (P4973L +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database