"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 167614	NM_000540.3(RYR1):c.641C>T (p.Thr214Met)	RYR1 (T214M)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 218467	NM_000540.3(RYR1):c.725+6G>A	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 12964	NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	RYR1 (R614C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 256465	NM_000540.3(RYR1):c.1923C>G (p.Thr641=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +10 more	GBenign/Likely benign
Select item 159839	NM_000540.3(RYR1):c.2091C>T (p.Ala697=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
Select item 1032420	NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)	RYR1 (G705R)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GConflicting classifications of pathogenicity
Select item 93260	NM_000540.3(RYR1):c.2871-5C>T	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +6 more	GBenign
Select item 159842	NM_000540.3(RYR1):c.2919C>T (p.His973=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GBenign/Likely benign
Select item 440962	NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)	RYR1 (P1293T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 93269	NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)	RYR1 (K1393R)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GBenign FDA Recognized database
Select item 329025	NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)	RYR1 (V1436M)	Single nucleotide variant (missense variant)	Neuromuscular disease, congenital, with uniform type 1 fiber +6 more	GConflicting classifications of pathogenicity
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 93270	NM_000540.3(RYR1):c.4443C>T (p.Asn1481=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +8 more	GBenign/Likely benign
Select item 224380	NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)	RYR1 (R1667C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 133149	NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu)	RYR1 (P1787L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 256540	NM_000540.3(RYR1):c.6732G>A (p.Arg2244=)	RYR1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 1328022	NM_000540.3(RYR1):c.7445-13T>A	RYR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 197946	NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)	LOC126862902, RYR1 (S2776F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 167620	NM_000540.3(RYR1):c.8376G>A (p.Arg2792=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GBenign/Likely benign
Select item 93301	NM_000540.3(RYR1):c.8616+7G>A	LOC126862902, RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +6 more	GBenign/Likely benign
Select item 256585	NM_000540.3(RYR1):c.9555-9G>A	RYR1	Single nucleotide variant (intron variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 93238	NM_000540.3(RYR1):c.10119G>A (p.Val3373=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 159826	NM_000540.3(RYR1):c.10259+7G>A	RYR1	Single nucleotide variant (intron variant)	Congenital multicore myopathy with external ophthalmoplegia +6 more	GBenign/Likely benign
Select item 132999	NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln)	RYR1 (E3578Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 133011	NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu)	RYR1 (Q3751E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign 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 93255	NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 65986	NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)	RYR1 (R4861C +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 289526	NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys)	RYR1 (E4911K +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1284912	NM_000540.3(RYR1):c.15021G>C (p.Gln5007His)	RYR1 (Q5002H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity

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Items: 30