CN305348[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1524261	NM_000540.3(RYR1):c.46-1G>A	RYR1	Single nucleotide variant (splice acceptor variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GLikely pathogenic
Select item 575635	NM_000540.3(RYR1):c.424+4C>A	RYR1	Single nucleotide variant (intron variant)	Central core myopathy +6 more	GUncertain significance
Select item 432001	NM_000540.3(RYR1):c.2682G>A (p.Pro894=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2674604	NM_000540.3(RYR1):c.3178+587A>G	RYR1	Single nucleotide variant (intron variant)	RYR1-related myopathy	GLikely pathogenic
Select item 590519	NM_000540.3(RYR1):c.3556G>A (p.Gly1186Ser)	RYR1 (G1186S)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GUncertain significance
Select item 544377	NM_000540.3(RYR1):c.4766A>C (p.Gln1589Pro)	RYR1 (Q1589P)	Single nucleotide variant (missense variant)	Central core myopathy +7 more	GUncertain significance
Select item 1485481	NM_000540.3(RYR1):c.4958C>T (p.Ser1653Leu)	RYR1 (S1653L)	Single nucleotide variant (missense variant)	RYR1-related myopathy +1 more	GUncertain significance
Select item 133201	NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln)	RYR1 (R2452Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 642707	NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)	RYR1 (L2963P)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1000892	NM_000540.3(RYR1):c.9103G>C (p.Glu3035Gln)	RYR1 (E3035Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1442314	NM_000540.3(RYR1):c.9619G>A (p.Glu3207Lys)	RYR1 (E3207K)	Single nucleotide variant (missense variant)	RYR1-related myopathy +1 more	GUncertain significance
Select item 2412688	NM_000540.3(RYR1):c.10961T>C (p.Leu3654Pro)	RYR1 (L3649P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 478159	NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)	RYR1 (R3772W +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 653142	NM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser)	RYR1 (Y4626S +1 more)	Single nucleotide variant (missense variant)	RYR1-related myopathy +1 more	GPathogenic/Likely pathogenic
Select item 285009	NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)	RYR1 (G4782R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2412687	NM_000540.3(RYR1):c.14488T>C (p.Ser4830Pro)	RYR1 (S4825P +1 more)	Single nucleotide variant (missense variant)	RYR1-related myopathy	GLikely pathogenic
Select item 159837	NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn)	RYR1 (S4867N +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2412684	NM_000540.3(RYR1):c.15036G>T (p.Trp5012Cys)	RYR1 (W5007C +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance