"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12988	NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	RYR1 (R109W)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 374200	NM_000540.3(RYR1):c.844C>T (p.Arg282Trp)	RYR1 (R282W)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 374199	NM_000540.3(RYR1):c.1186G>A (p.Glu396Lys)	RYR1 (E396K)	Single nucleotide variant (missense variant)	Myopathy +2 more	GLikely pathogenic
Select item 523377	NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)	RYR1 (G422R)	Single nucleotide variant (missense variant)	Central core myopathy +7 more	GConflicting classifications of pathogenicity
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 523378	NM_000540.3(RYR1):c.1990G>C (p.Glu664Gln)	RYR1 (E664Q)	Single nucleotide variant (missense variant)	Distal arthrogryposis	GLikely pathogenic
Select item 931453	NM_000540.3(RYR1):c.2338dup (p.Val780fs)	RYR1 (V780fs)	Duplication (frameshift variant)	Congenital myopathy with fiber type disproportion	GLikely pathogenic
Select item 373917	NM_000540.3(RYR1):c.3202T>C (p.Cys1068Arg)	RYR1 (C1068R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 374168	NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp)	RYR1 (R1179W)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 374135	NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)	RYR1 (A1372V)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +7 more	GConflicting classifications of pathogenicity
Select item 374136	NM_000540.3(RYR1):c.4236C>G (p.His1412Gln)	RYR1 (H1412Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +7 more	GUncertain significance
Select item 161372	NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	RYR1 (R1469W)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 930890	NM_000540.3(RYR1):c.4816C>T (p.Arg1606Cys)	RYR1 (R1606C)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 373680	NM_000540.3(RYR1):c.5000G>A (p.Arg1667His)	RYR1 (R1667H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +10 more	GUncertain significance
Select item 931243	NM_000540.3(RYR1):c.5999C>T (p.Ser2000Phe)	RYR1 (S2000F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 931597	NM_000540.3(RYR1):c.6805G>C (p.Gly2269Arg)	RYR1 (G2269R)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 374164	NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)	RYR1 (E2371K)	Single nucleotide variant (missense variant)	RYR1-related disorder +5 more	GPathogenic
Select item 12989	NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	RYR1 (M2423K)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 133195	NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)	RYR1 (D2431Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 65981	NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	RYR1 (R2508C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 931921	NM_000540.3(RYR1):c.7854G>A (p.Met2618Ile)	RYR1 (M2618I)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 373926	NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter)	LOC126862902, RYR1 (W2821*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
Select item 931336	NM_000540.3(RYR1):c.8519G>A (p.Arg2840Gln)	LOC126862902, RYR1 (R2840Q)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 329090	NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)	RYR1 (E3212G)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 523379	NM_000540.3(RYR1):c.9850T>C (p.Trp3284Arg)	RYR1 (W3284R)	Single nucleotide variant (missense variant)	Distal arthrogryposis +1 more	GConflicting classifications of pathogenicity
Select item 651289	NM_000540.3(RYR1):c.9874C>T (p.Pro3292Ser)	RYR1 (P3292S)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 329095	NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys)	RYR1 (R3348C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 931477	NM_000540.3(RYR1):c.11023G>C (p.Asp3675His)	RYR1 (D3670H +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 133012	NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)	RYR1 (R3772Q +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 224400	NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)	RYR1 (R3867C +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 930322	NM_000540.3(RYR1):c.12047T>C (p.Leu4016Pro)	RYR1 (L4011P +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 374083	NM_000540.3(RYR1):c.12532G>A (p.Gly4178Ser)	RYR1 (G4178S +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 647285	NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del)	RYR1	Deletion (inframe_deletion)	RYR1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 931228	NM_000540.3(RYR1):c.12955C>T (p.Arg4319Trp)	RYR1 (R4314W +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 931314	NM_000540.3(RYR1):c.13145G>A (p.Gly4382Asp)	RYR1 (G4377D +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 930581	NM_000540.3(RYR1):c.13281C>G (p.His4427Gln)	LOC130064357, RYR1 (H4427Q +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
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 931922	NM_000540.3(RYR1):c.13746+4C>G	RYR1	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 65941	NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)	RYR1 (G4638D +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 931756	NM_000540.3(RYR1):c.14291G>A (p.Gly4764Glu)	RYR1 (G4764E +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 374142	NM_000540.3(RYR1):c.14713C>A (p.Pro4905Thr)	RYR1 (P4905T +1 more)	Single nucleotide variant (missense variant)	Congenital hip dislocation +3 more	GUncertain significance

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Items: 41