C2930980[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 455

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 891677	NM_000540.3(RYR1):c.-118G>A	LOC130064350, RYR1	Single nucleotide variant (5 prime UTR variant)	Congenital multicore myopathy with external ophthalmoplegia +2 more	GUncertain significance
Select item 132987	NM_000540.3(RYR1):c.-108T>C	RYR1	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign
Select item 328985	NM_000540.3(RYR1):c.-102C>T	RYR1	Single nucleotide variant (5 prime UTR variant)	Central core myopathy +3 more	GBenign/Likely benign
Select item 328987	NM_000540.3(RYR1):c.-74A>C	RYR1	Single nucleotide variant (5 prime UTR variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 889935	NM_000540.3(RYR1):c.-69T>C	RYR1	Single nucleotide variant (5 prime UTR variant)	Central core myopathy +2 more	GUncertain significance
Select item 328989	NM_000540.3(RYR1):c.-69T>G	RYR1	Single nucleotide variant (5 prime UTR variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 889936	NM_000540.3(RYR1):c.-65G>C	RYR1	Single nucleotide variant (5 prime UTR variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 891493	NM_000540.3(RYR1):c.-61A>C	RYR1	Single nucleotide variant (5 prime UTR variant)	Congenital multicore myopathy with external ophthalmoplegia +2 more	GUncertain significance
Select item 891494	NM_000540.3(RYR1):c.-31C>T	RYR1	Single nucleotide variant (5 prime UTR variant)	Congenital multicore myopathy with external ophthalmoplegia +1 more	GUncertain significance
Select item 328990	NM_000540.3(RYR1):c.5G>C (p.Gly2Ala)	RYR1 (G2A)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +3 more	GUncertain significance
Select item 891745	NM_000540.3(RYR1):c.76A>C (p.Thr26Pro)	RYR1 (T26P)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +2 more	GUncertain significance
Select item 224362	NM_000540.3(RYR1):c.89A>T (p.Glu30Val)	RYR1 (E30V)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +5 more	GConflicting classifications of pathogenicity
Select item 889315	NM_000540.3(RYR1):c.125G>A (p.Gly42Asp)	RYR1 (G42D)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +2 more	GUncertain significance
Select item 133099	NM_000540.3(RYR1):c.152C>A (p.Thr51Asn)	RYR1 (T51N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 697293	NM_000540.3(RYR1):c.199G>A (p.Val67Ile)	RYR1 (V67I)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +2 more	GConflicting classifications of pathogenicity
Select item 256470	NM_000540.3(RYR1):c.216G>T (p.Leu72=)	RYR1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 256474	NM_000540.3(RYR1):c.255G>T (p.Val85=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GConflicting classifications of pathogenicity
Select item 197158	NM_000540.3(RYR1):c.271-7C>G	RYR1	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 328991	NM_000540.3(RYR1):c.537+12C>A	RYR1	Single nucleotide variant (intron variant)	RYR1-Related Disorders +4 more	GConflicting classifications of pathogenicity
Select item 889378	NM_000540.3(RYR1):c.550G>A (p.Ala184Thr)	RYR1 (A184T)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +1 more	GUncertain significance
Select item 133152	NM_000540.3(RYR1):c.573C>T (p.Asp191=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +5 more	GBenign/Likely benign
Select item 328993	NM_000540.3(RYR1):c.577T>A (p.Ser193Thr)	RYR1 (S193T)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia +8 more	GUncertain significance
Select item 93277	NM_000540.3(RYR1):c.594A>G (p.Leu198=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +6 more	GBenign/Likely benign
Select item 212104	NM_000540.3(RYR1):c.619C>T (p.Arg207Cys)	RYR1 (R207C)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 890067	NM_000540.3(RYR1):c.663C>T (p.Leu221=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 891613	NM_000540.3(RYR1):c.683A>G (p.Glu228Gly)	RYR1 (E228G)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +3 more	GUncertain significance
Select item 218467	NM_000540.3(RYR1):c.725+6G>A	RYR1	Single nucleotide variant (intron variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 133234	NM_000540.3(RYR1):c.873G>A (p.Ala291=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +5 more	GBenign/Likely benign
Select item 891881	NM_000540.3(RYR1):c.874C>T (p.Leu292Phe)	RYR1 (L292F)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +2 more	GUncertain significance
Select item 590621	NM_000540.3(RYR1):c.880G>A (p.Glu294Lys)	RYR1 (E294K)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +3 more	GUncertain significance
Select item 159862	NM_000540.3(RYR1):c.897G>C (p.Val299=)	RYR1	Single nucleotide variant (synonymous variant)	King Denborough syndrome +7 more	GBenign/Likely benign
Select item 159863	NM_000540.3(RYR1):c.906C>T (p.Asp302=)	RYR1	Single nucleotide variant (synonymous variant)	King Denborough syndrome +7 more	GBenign/Likely benign
Select item 889434	NM_000540.3(RYR1):c.946C>T (p.Arg316Cys)	RYR1 (R316C)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 256586	NM_000540.3(RYR1):c.958-11del	RYR1	Deletion (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 93243	NM_000540.3(RYR1):c.1077T>C (p.Ala359=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 133010	NM_000540.3(RYR1):c.1123-11C>T	RYR1	Single nucleotide variant (intron variant)	RYR1-Related Disorders +6 more	GConflicting classifications of pathogenicity
Select item 133034	NM_000540.3(RYR1):c.1218C>T (p.Thr406=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +4 more	GConflicting classifications of pathogenicity
Select item 891944	NM_000540.3(RYR1):c.1440+13C>T	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 328994	NM_000540.3(RYR1):c.1441-12T>C	LOC129391106, RYR1	Single nucleotide variant (intron variant)	Central core myopathy +4 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 159838	NM_000540.3(RYR1):c.1577-6C>G	RYR1	Single nucleotide variant (intron variant)	King Denborough syndrome +8 more	GBenign/Likely benign
Select item 133101	NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	RYR1 (R530H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 93258	NM_000540.3(RYR1):c.1668G>A (p.Ser556=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 842750	NM_000540.3(RYR1):c.1739A>G (p.Asn580Ser)	RYR1 (N580S)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +3 more	GUncertain significance
Select item 328995	NM_000540.3(RYR1):c.1808G>A (p.Cys603Tyr)	RYR1 (C603Y)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +3 more	GUncertain significance
Select item 256465	NM_000540.3(RYR1):c.1923C>G (p.Thr641=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia of anesthesia +10 more	GBenign/Likely benign
Select item 650477	NM_000540.3(RYR1):c.1956G>A (p.Ala652=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GConflicting classifications of pathogenicity
Select item 256468	NM_000540.3(RYR1):c.2004C>T (p.Asp668=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GBenign/Likely benign
Select item 159839	NM_000540.3(RYR1):c.2091C>T (p.Ala697=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +6 more	GConflicting classifications of pathogenicity
Select item 133111	NM_000540.3(RYR1):c.2121C>A (p.Gly707=)	RYR1	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 283872	NM_000540.3(RYR1):c.2160C>G (p.Leu720=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 889562	NM_000540.3(RYR1):c.2164A>G (p.Thr722Ala)	RYR1 (T722A)	Single nucleotide variant (missense variant)	Central core myopathy +2 more	GUncertain significance
Select item 133114	NM_000540.3(RYR1):c.2223C>T (p.Asp741=)	RYR1	Single nucleotide variant (synonymous variant)	Congenital multicore myopathy with external ophthalmoplegia +6 more	GBenign/Likely benign
Select item 256471	NM_000540.3(RYR1):c.2241G>A (p.Leu747=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GBenign/Likely benign
Select item 93259	NM_000540.3(RYR1):c.2286C>T (p.Pro762=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 194923	NM_000540.3(RYR1):c.2319C>T (p.Asp773=)	RYR1	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 328996	NM_000540.3(RYR1):c.2356G>A (p.Val786Ile)	RYR1 (V786I)	Single nucleotide variant (missense variant)	Neuromuscular disease, congenital, with uniform type 1 fiber +6 more	GConflicting classifications of pathogenicity
Select item 256473	NM_000540.3(RYR1):c.2415T>C (p.Pro805=)	RYR1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 892024	NM_000540.3(RYR1):c.2437G>T (p.Ala813Ser)	RYR1 (A813S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 328997	NM_000540.3(RYR1):c.2545G>A (p.Asp849Asn)	RYR1 (D849N)	Single nucleotide variant (missense variant)	Neuromuscular disease, congenital, with uniform type 1 fiber +6 more	GConflicting classifications of pathogenicity
Select item 201156	NM_000540.3(RYR1):c.2551G>A (p.Val851Met)	RYR1 (V851M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 419631	NM_000540.3(RYR1):c.2603G>A (p.Arg868His)	RYR1 (R868H)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 201145	NM_000540.3(RYR1):c.2645C>T (p.Ala882Val)	RYR1 (A882V)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GUncertain significance
Select item 737727	NM_000540.3(RYR1):c.2646G>A (p.Ala882=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 212100	NM_000540.3(RYR1):c.2654G>A (p.Arg885His)	RYR1 (R885H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 569224	NM_000540.3(RYR1):c.2659G>A (p.Glu887Lys)	RYR1 (E887K)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 328998	NM_000540.3(RYR1):c.2676C>T (p.Tyr892=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +5 more	GConflicting classifications of pathogenicity
Select item 161362	NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser)	RYR1 (G893S)	Single nucleotide variant (missense variant)	RYR1-related condition +6 more	GBenign/Likely benign
Select item 256483	NM_000540.3(RYR1):c.2682+7G>A	RYR1	Single nucleotide variant (intron variant)	RYR1-Related Disorders +6 more	GConflicting classifications of pathogenicity
Select item 888612	NM_000540.3(RYR1):c.2682+13C>T	RYR1	Single nucleotide variant (intron variant)	RYR1-Related Disorders +3 more	GConflicting classifications of pathogenicity
Select item 590506	NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln)	RYR1 (R896Q)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +7 more	GUncertain significance
Select item 328999	NM_000540.3(RYR1):c.2711C>T (p.Pro904Leu)	RYR1 (P904L)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +6 more	GUncertain significance
Select item 133120	NM_000540.3(RYR1):c.2712G>A (p.Pro904=)	RYR1	Single nucleotide variant (synonymous variant)	Congenital multicore myopathy with external ophthalmoplegia +3 more	GConflicting classifications of pathogenicity
Select item 161363	NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)	RYR1 (A933T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 224377	NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)	RYR1 (A941V)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +8 more	GConflicting classifications of pathogenicity
Select item 329000	NM_000540.3(RYR1):c.2823G>A (p.Ala941=)	RYR1	Single nucleotide variant (synonymous variant)	Congenital multicore myopathy with external ophthalmoplegia +4 more	GConflicting classifications of pathogenicity
Select item 329001	NM_000540.3(RYR1):c.2835G>A (p.Ala945=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 329002	NM_000540.3(RYR1):c.2844C>T (p.Asn948=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +4 more	GConflicting classifications of pathogenicity
Select item 93260	NM_000540.3(RYR1):c.2871-5C>T	RYR1	Single nucleotide variant (intron variant)	Central core myopathy +6 more	GBenign
Select item 159842	NM_000540.3(RYR1):c.2919C>T (p.His973=)	RYR1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 329003	NM_000540.3(RYR1):c.2937G>A (p.Ala979=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GConflicting classifications of pathogenicity
Select item 93261	NM_000540.3(RYR1):c.2943G>A (p.Thr981=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 93262	NM_000540.3(RYR1):c.2979C>T (p.Asn993=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +5 more	GBenign
Select item 329004	NM_000540.3(RYR1):c.2995C>T (p.Arg999Cys)	RYR1 (R999C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 133122	NM_000540.3(RYR1):c.2996G>A (p.Arg999His)	RYR1 (R999H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133123	NM_000540.3(RYR1):c.3042G>A (p.Ala1014=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +6 more	GBenign/Likely benign
Select item 329006	NM_000540.3(RYR1):c.3055C>T (p.Arg1019Trp)	RYR1 (R1019W)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 256488	NM_000540.3(RYR1):c.3111C>T (p.Ser1037=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +6 more	GConflicting classifications of pathogenicity
Select item 329007	NM_000540.3(RYR1):c.3123C>T (p.Ala1041=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +4 more	GConflicting classifications of pathogenicity
Select item 444465	NM_000540.3(RYR1):c.3252C>T (p.Ser1084=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 572240	NM_000540.3(RYR1):c.3257G>A (p.Arg1086His)	RYR1 (R1086H)	Single nucleotide variant (missense variant)	King Denborough syndrome +5 more	GUncertain significance
Select item 329008	NM_000540.3(RYR1):c.3299G>A (p.Arg1100His)	RYR1 (R1100H)	Single nucleotide variant (missense variant)	Multiminicore myopathy +7 more	GUncertain significance
Select item 890998	NM_000540.3(RYR1):c.3319G>A (p.Glu1107Lys)	RYR1 (E1107K)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +4 more	GUncertain significance
Select item 256490	NM_000540.3(RYR1):c.3326G>A (p.Arg1109Lys)	RYR1 (R1109K)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +5 more	GBenign/Likely benign
Select item 329009	NM_000540.3(RYR1):c.3379C>T (p.Arg1127Cys)	RYR1 (R1127C)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +8 more	GUncertain significance
Select item 256491	NM_000540.3(RYR1):c.3381C>T (p.Arg1127=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +7 more	GConflicting classifications of pathogenicity
Select item 892220	NM_000540.3(RYR1):c.3410C>T (p.Pro1137Leu)	RYR1 (P1137L)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +2 more	GUncertain significance
Select item 329010	NM_000540.3(RYR1):c.3420C>G (p.Arg1140=)	RYR1	Single nucleotide variant (synonymous variant)	Congenital multicore myopathy with external ophthalmoplegia +6 more	GConflicting classifications of pathogenicity
Select item 256493	NM_000540.3(RYR1):c.3420C>T (p.Arg1140=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +6 more	GConflicting classifications of pathogenicity
Select item 93263	NM_000540.3(RYR1):c.3456C>T (p.Ile1152=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +5 more	GBenign

<< First< Prev

Page of 5