ClinVar for MedGen (Select 9867) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24976801.	NC_000019.10:g.38455669G>A	RYR1		Malignant hyperthermia of anesthesia	Uncertain significance	no assertion criteria provided
Select item 16986202.	NM_000540.3(RYR1):c.14763C>G (p.Phe4921Leu) GRCh37: Chr19:39075699 GRCh38: Chr19:38585059	RYR1	F4916L, F4921L	Malignant hyperthermia of anesthesia	Likely pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 16985643.	NM_000540.3(RYR1):c.14904C>A (p.Tyr4968Ter) GRCh37: Chr19:39076766 GRCh38: Chr19:38586126	RYR1	Y4963, Y4968	Malignant hyperthermia of anesthesia	Likely pathogenic (Jun 15, 2022)	criteria provided, single submitter
Select item 16834854.	NM_004318.4(ASPH):c.323-11779G>C GRCh37: Chr8:62577998 GRCh38: Chr8:61665439	ASPH	D149H, D164H	Malignant hyperthermia of anesthesia	Pathogenic (May 3, 2022)	no assertion criteria provided
Select item 16834835.	NM_004318.4(ASPH):c.248T>C (p.Val83Ala) GRCh37: Chr8:62596603 GRCh38: Chr8:61684044	ASPH	V54A, V83A	Inborn genetic diseases	Uncertain significance (Jul 26, 2021)	criteria provided, single submitter
Select item 16786386.	NM_080704.4(TRPV1):c.2165G>A (p.Arg722His) GRCh37: Chr17:3475482 GRCh38: Chr17:3572188	TRPV1	R722H	Malignant hyperthermia of anesthesia	Uncertain significance (Feb 26, 2021)	criteria provided, single submitter
Select item 13303727.	NM_000540.3(RYR1):c.7307G>A (p.Cys2436Tyr) GRCh37: Chr19:38990640 GRCh38: Chr19:38500000	RYR1	C2436Y	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 13303718.	NM_000540.3(RYR1):c.533A>G (p.Tyr178Cys) GRCh37: Chr19:38934897 GRCh38: Chr19:38444257	RYR1	Y178C	Malignant hyperthermia of anesthesia	Likely pathogenic (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 13303709.	NM_000540.3(RYR1):c.14364+1G>T GRCh37: Chr19:39068845 GRCh38: Chr19:38578205	RYR1		Malignant hyperthermia of anesthesia	Uncertain significance (Jan 3, 2022)	reviewed by expert panel FDA Recognized Database
Select item 133036910.	NM_000540.3(RYR1):c.9868G>A (p.Glu3290Lys) GRCh37: Chr19:39008181 GRCh38: Chr19:38517541	RYR1	E3290K	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 133036811.	NM_000540.3(RYR1):c.9850T>A (p.Trp3284Arg) GRCh37: Chr19:39008163 GRCh38: Chr19:38517523	RYR1	W3284R	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 133036712.	NM_000540.3(RYR1):c.9797T>C (p.Met3266Thr) GRCh37: Chr19:39008110 GRCh38: Chr19:38517470	RYR1	M3266T	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 133036613.	NM_000540.3(RYR1):c.9676G>C (p.Glu3226Gln) GRCh37: Chr19:39006848 GRCh38: Chr19:38516208	RYR1	E3226Q	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 133036514.	NM_000540.3(RYR1):c.9649T>C (p.Ser3217Pro) GRCh37: Chr19:39006821 GRCh38: Chr19:38516181	RYR1	S3217P	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 133036415.	NM_000540.3(RYR1):c.9268G>A (p.Ala3090Thr) GRCh37: Chr19:39002919 GRCh38: Chr19:38512279	RYR1	A3090T	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 133036316.	NM_000540.3(RYR1):c.8926C>T (p.His2976Tyr) GRCh37: Chr19:38998461 GRCh38: Chr19:38507821	RYR1	H2976Y	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 133036217.	NM_000540.3(RYR1):c.8729C>T (p.Thr2910Met) GRCh37: Chr19:38997505 GRCh38: Chr19:38506865	RYR1	T2910M	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 133036118.	NM_000540.3(RYR1):c.8654C>G (p.Thr2885Arg) GRCh37: Chr19:38997148 GRCh38: Chr19:38506508	RYR1	T2885R	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 133036019.	NM_000540.3(RYR1):c.8527T>C (p.Ser2843Pro) GRCh37: Chr19:38996572 GRCh38: Chr19:38505932	LOC126862902, RYR1	S2843P	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 133035920.	NM_000540.3(RYR1):c.8005G>A (p.Glu2669Lys) GRCh37: Chr19:38994938 GRCh38: Chr19:38504298	RYR1	E2669K	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 133035821.	NM_000540.3(RYR1):c.7879G>C (p.Val2627Leu) GRCh37: Chr19:38993563 GRCh38: Chr19:38502923	RYR1	V2627L	Malignant hyperthermia of anesthesia	Likely pathogenic (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 133035722.	NM_000540.3(RYR1):c.7816T>A (p.Cys2606Ser) GRCh37: Chr19:38993348 GRCh38: Chr19:38502708	RYR1	C2606S	Malignant hyperthermia of anesthesia	Likely benign (Dec 21, 2021)	reviewed by expert panel FDA Recognized Database
Select item 133035623.	NM_000540.3(RYR1):c.7777C>G (p.Arg2593Gly) GRCh37: Chr19:38993309 GRCh38: Chr19:38502669	RYR1	R2593G	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 130851524.	NM_000540.3(RYR1):c.8054C>T (p.Ser2685Phe) GRCh37: Chr19:38994987 GRCh38: Chr19:38504347	RYR1	S2685F	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 130327625.	NM_000540.3(RYR1):c.9848G>A (p.Arg3283Gln) GRCh37: Chr19:39008161 GRCh38: Chr19:38517521	RYR1	R3283Q	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 121382726.	NM_000540.3(RYR1):c.5890C>T (p.Arg1964Cys) GRCh37: Chr19:38980791 GRCh38: Chr19:38490151	RYR1	R1964C	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 121382627.	NM_000540.3(RYR1):c.5440A>G (p.Met1814Val) GRCh37: Chr19:38976735 GRCh38: Chr19:38486095	RYR1	M1814V	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 121382528.	NM_000540.3(RYR1):c.5024T>C (p.Leu1675Pro) GRCh37: Chr19:38976319 GRCh38: Chr19:38485679	RYR1	L1675P	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 121382429.	NM_000540.3(RYR1):c.14968A>G (p.Met4990Val) GRCh37: Chr19:39076830 GRCh38: Chr19:38586190	RYR1	M4985V, M4990V	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 121382330.	NM_000540.3(RYR1):c.15060G>C (p.Trp5020Cys) GRCh37: Chr19:39078003 GRCh38: Chr19:38587363	RYR1	W5015C, W5020C	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 121382231.	NM_000540.3(RYR1):c.15059G>C (p.Trp5020Ser) GRCh37: Chr19:39078002 GRCh38: Chr19:38587362	RYR1	W5015S, W5020S	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 121382132.	NM_000540.3(RYR1):c.7018T>C (p.Phe2340Leu) GRCh37: Chr19:38989874 GRCh38: Chr19:38499234	RYR1	F2340L	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 121382033.	NM_000540.3(RYR1):c.6377G>A (p.Arg2126Gln) GRCh37: Chr19:38985094 GRCh38: Chr19:38494454	RYR1	R2126Q	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 121368434.	NM_000540.3(RYR1):c.14424C>A (p.Phe4808Leu) GRCh37: Chr19:39070681 GRCh38: Chr19:38580041	RYR1	F4803L, F4808L	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 121031735.	NM_000540.3(RYR1):c.1615T>G (p.Phe539Val) GRCh37: Chr19:38946129 GRCh38: Chr19:38455489	RYR1	F539V	Malignant hyperthermia of anesthesia	Likely pathogenic (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 121031636.	NM_000540.3(RYR1):c.14803G>A (p.Gly4935Ser) GRCh37: Chr19:39075739 GRCh38: Chr19:38585099	RYR1	G4930S, G4935S	Malignant hyperthermia of anesthesia	Likely pathogenic (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 121030737.	NM_000540.3(RYR1):c.1459C>G (p.Leu487Val) GRCh37: Chr19:38945893 GRCh38: Chr19:38455253	LOC129391106, RYR1	L487V	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 121030038.	NM_000540.3(RYR1):c.3166G>C (p.Asp1056His) GRCh37: Chr19:38957026 GRCh38: Chr19:38466386	RYR1	D1056H	Malignant hyperthermia of anesthesia	Likely pathogenic (Apr 7, 2023)	reviewed by expert panel FDA Recognized Database
Select item 112023039.	NM_000540.3(RYR1):c.11416G>A (p.Gly3806Arg) GRCh37: Chr19:39025837 GRCh38: Chr19:38535197	RYR1	G3801R, G3806R	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 112022840.	NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg) GRCh37: Chr19:39062902 GRCh38: Chr19:38572262	RYR1	C4659R, C4664R	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 112021841.	NM_000540.2(RYR1):c.[14344G>A;14928C>G] GRCh37: Chr19:39076790 Chr19:39068824 GRCh38: Chr19:38586150 Chr19:38578184	RYR1, RYR1	F4976L, F4971L, G4782R, G4777R	Central core myopathy	Pathogenic (Mar 30, 2021)	criteria provided, single submitter
Select item 107106442.	NM_000540.3(RYR1):c.12700G>T (p.Val4234Leu) GRCh37: Chr19:39055674 GRCh38: Chr19:38565034	RYR1	V4229L, V4234L	Malignant hyperthermia of anesthesia	Likely pathogenic (Apr 7, 2023)	reviewed by expert panel FDA Recognized Database
Select item 106511943.	NM_000540.3(RYR1):c.6710G>A (p.Cys2237Tyr) GRCh37: Chr19:38987095 GRCh38: Chr19:38496455	RYR1	C2237Y	Malignant hyperthermia, susceptibility to, 1	Uncertain significance (Apr 7, 2023)	reviewed by expert panel FDA Recognized Database
Select item 105622444.	NM_000540.3(RYR1):c.7760A>G (p.Tyr2587Cys) GRCh37: Chr19:38993292 GRCh38: Chr19:38502652	RYR1	Y2587C	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 105094045.	NM_000540.3(RYR1):c.1475G>A (p.Arg492His) GRCh37: Chr19:38945909 GRCh38: Chr19:38455269	LOC129391106, RYR1	R492H	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 101868246.	NM_000540.3(RYR1):c.1411C>T (p.Arg471Cys) GRCh37: Chr19:38943625 GRCh38: Chr19:38452985	RYR1	R471C	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 101026747.	NM_000540.3(RYR1):c.9652G>A (p.Val3218Met) GRCh37: Chr19:39006824 GRCh38: Chr19:38516184	RYR1	V3218M	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 100968348.	NM_000540.3(RYR1):c.5341T>C (p.Cys1781Arg) GRCh37: Chr19:38976636 GRCh38: Chr19:38485996	RYR1	C1781R	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 100484049.	NM_000540.3(RYR1):c.3667G>A (p.Glu1223Lys) GRCh37: Chr19:38960055 GRCh38: Chr19:38469415	RYR1	E1223K	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 92903450.	NM_000540.3(RYR1):c.2836G>T (p.Glu946Ter) GRCh37: Chr19:38955328 GRCh38: Chr19:38464688	RYR1	E946*	RYR1-Related Disorders, Malignant hyperthermia of anesthesia	Pathogenic/Likely pathogenic (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88943451.	NM_000540.3(RYR1):c.946C>T (p.Arg316Cys) GRCh37: Chr19:38939140 GRCh38: Chr19:38448500	RYR1	R316C	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 87258652.	NM_000540.3(RYR1):c.7879G>A (p.Val2627Met) GRCh37: Chr19:38993563 GRCh38: Chr19:38502923	RYR1	V2627M	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 84922653.	NM_000540.3(RYR1):c.14168G>A (p.Arg4723His) GRCh37: Chr19:39066597 GRCh38: Chr19:38575957	RYR1	R4718H, R4723H	Malignant hyperthermia of anesthesia	Likely benign (Mar 16, 2021)	reviewed by expert panel FDA Recognized Database
Select item 80852754.	NM_000540.3(RYR1):c.251C>T (p.Thr84Met) GRCh37: Chr19:38933074 GRCh38: Chr19:38442434	RYR1	T84M	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 65442755.	NM_000540.3(RYR1):c.12398A>G (p.Glu4133Gly) GRCh37: Chr19:39051868 GRCh38: Chr19:38561228	RYR1	E4128G, E4133G	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 65413056.	NM_000540.3(RYR1):c.7778G>A (p.Arg2593His) GRCh37: Chr19:38993310 GRCh38: Chr19:38502670	RYR1	R2593H	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 59063057.	NM_000540.3(RYR1):c.9499C>T (p.Arg3167Ter) GRCh37: Chr19:39005692 GRCh38: Chr19:38515052	RYR1	R3167*	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 59057458.	NM_000540.3(RYR1):c.6743G>A (p.Arg2248His) GRCh37: Chr19:38987128 GRCh38: Chr19:38496488	RYR1	R2248H	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 59057159.	NM_000540.3(RYR1):c.6488G>T (p.Arg2163Leu) GRCh37: Chr19:38985205 GRCh38: Chr19:38494565	RYR1	R2163L	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 59055660.	NM_000540.3(RYR1):c.528G>T (p.Glu176Asp) GRCh37: Chr19:38934892 GRCh38: Chr19:38444252	RYR1	E176D	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 7, 2023)	reviewed by expert panel FDA Recognized Database
Select item 59051761.	NM_000540.3(RYR1):c.3527C>T (p.Thr1176Ile) GRCh37: Chr19:38959751 GRCh38: Chr19:38469111	RYR1	T1176I	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 59051062.	NM_000540.3(RYR1):c.3046C>T (p.Arg1016Ter) GRCh37: Chr19:38956906 GRCh38: Chr19:38466266	RYR1	R1016*	not provided, Malignant hyperthermia of anesthesia	Likely pathogenic (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59049263.	NM_000540.3(RYR1):c.190T>C (p.Cys64Arg) GRCh37: Chr19:38933013 GRCh38: Chr19:38442373	RYR1	C64R	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 59048264.	NM_000540.3(RYR1):c.1553T>C (p.Val518Ala) GRCh37: Chr19:38945987 GRCh38: Chr19:38455347	LOC129391106, RYR1	V518A	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 59047265.	NM_000540.3(RYR1):c.14782A>G (p.Ile4928Val) GRCh37: Chr19:39075718 GRCh38: Chr19:38585078	RYR1	I4928V, I4923V	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 59045466.	NM_000540.3(RYR1):c.14509C>G (p.Gln4837Glu) GRCh37: Chr19:39070766 GRCh38: Chr19:38580126	RYR1	Q4837E, Q4832E	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 59045367.	NM_000540.3(RYR1):c.14458G>A (p.Gly4820Arg) GRCh37: Chr19:39070715 GRCh38: Chr19:38580075	RYR1	G4820R, G4815R	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 59044768.	NM_000540.3(RYR1):c.14186A>C (p.His4729Pro) GRCh37: Chr19:39068571 GRCh38: Chr19:38577931	RYR1	H4729P, H4724P	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 59041369.	NM_000540.3(RYR1):c.12689T>G (p.Met4230Arg) GRCh37: Chr19:39055663 GRCh38: Chr19:38565023	RYR1	M4230R, M4225R	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 59040570.	NM_000540.3(RYR1):c.12533G>T (p.Gly4178Val) GRCh37: Chr19:39052003 GRCh38: Chr19:38561363	RYR1	G4178V, G4173V	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 56871371.	NM_000540.3(RYR1):c.6742C>T (p.Arg2248Cys) GRCh37: Chr19:38987127 GRCh38: Chr19:38496487	RYR1	R2248C	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 56766272.	NM_000540.3(RYR1):c.1460T>C (p.Leu487Pro) GRCh37: Chr19:38945894 GRCh38: Chr19:38455254	LOC129391106, RYR1	L487P	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 54451773.	NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) GRCh37: Chr19:38985019 GRCh38: Chr19:38494379	RYR1	M2101K	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 54451674.	NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) GRCh37: Chr19:39002230 GRCh38: Chr19:38511590	RYR1	R3051H	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 54445575.	NM_000540.3(RYR1):c.14558C>T (p.Thr4853Ile) GRCh37: Chr19:39071056 GRCh38: Chr19:38580416	RYR1	T4853I, T4848I	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 49666676.	NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg) GRCh37: Chr19:38949938 GRCh38: Chr19:38459298	RYR1	G774R	RYR1-Related Disorders, Malignant hyperthermia of anesthesia, not provided, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion, Central core myopathy, Malignant hyperthermia, susceptibility to, 1, King Denborough syndrome	Uncertain significance (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49665977.	NM_000540.3(RYR1):c.4088C>G (p.Ala1363Gly) GRCh37: Chr19:38964339 GRCh38: Chr19:38473699	RYR1	A1363G	RYR1-Related Disorders, Malignant hyperthermia of anesthesia	Uncertain significance (Oct 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 49665878.	NM_000069.3(CACNA1S):c.3686G>C (p.Arg1229Pro) GRCh37: Chr1:201022696 GRCh38: Chr1:201053568	CACNA1S	R1229P	Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia of anesthesia	Conflicting interpretations of pathogenicity (Apr 22, 2021)	criteria provided, conflicting interpretations
Select item 49665679.	NM_000069.3(CACNA1S):c.5489C>G (p.Thr1830Arg) GRCh37: Chr1:201009092 GRCh38: Chr1:201039964	CACNA1S	T1830R	Malignant hyperthermia of anesthesia	Uncertain significance (Oct 1, 2016)	criteria provided, single submitter
Select item 49665380.	NM_000069.3(CACNA1S):c.5417T>C (p.Phe1806Ser) GRCh37: Chr1:201009164 GRCh38: Chr1:201040036	CACNA1S	F1806S	Malignant hyperthermia of anesthesia	Uncertain significance (Oct 1, 2016)	criteria provided, single submitter
Select item 49664981.	NM_000540.3(RYR1):c.4006C>A (p.Arg1336Ser) GRCh37: Chr19:38964257 GRCh38: Chr19:38473617	RYR1	R1336S	Malignant hyperthermia of anesthesia, RYR1-Related Disorders, not provided	Uncertain significance (Oct 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 47824982.	NM_000540.3(RYR1):c.625G>A (p.Glu209Lys) GRCh37: Chr19:38935311 GRCh38: Chr19:38444671	RYR1	E209K	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 47821383.	NM_000540.3(RYR1):c.2447C>T (p.Pro816Leu) GRCh37: Chr19:38951101 GRCh38: Chr19:38460461	RYR1	P816L	Malignant hyperthermia of anesthesia	Likely benign (Nov 9, 2021)	reviewed by expert panel FDA Recognized Database
Select item 47819984.	NM_000540.3(RYR1):c.14422_14423inv (p.Phe4808Asn) GRCh37: Chr19:39070679-39070680 GRCh38: Chr19:38580039-38580040	RYR1	F4803N, F4808N	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 47818785.	NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp) GRCh37: Chr19:39061259 GRCh38: Chr19:38570619	RYR1	R4558W, R4553W	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 43317686.	NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln) GRCh37: Chr19:38958295 GRCh38: Chr19:38467655	RYR1	R1075Q	Malignant hyperthermia of anesthesia	Likely benign (Mar 14, 2022)	reviewed by expert panel FDA Recognized Database
Select item 42482887.	NM_000540.2(RYR1):c.[14524G>A];[2029C>T]			Central core myopathy	Likely pathogenic (Dec 1, 2015)	criteria provided, single submitter
Select item 37497488.	NM_000540.3(RYR1):c.3095G>A (p.Arg1032His) GRCh37: Chr19:38956955 GRCh38: Chr19:38466315	RYR1	R1032H	Malignant hyperthermia of anesthesia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 37408389.	NM_000540.3(RYR1):c.12532G>A (p.Gly4178Ser) GRCh37: Chr19:39052002 GRCh38: Chr19:38561362	RYR1	G4178S, G4173S	Malignant hyperthermia, susceptibility to, 1	Uncertain significance (Apr 10, 2023)	reviewed by expert panel FDA Recognized Database
Select item 36884290.	NM_000069.2(CACNA1S):c.-231A>G GRCh37: Chr1:201081698 GRCh38: Chr1:201112570	CACNA1S		Malignant hyperthermia of anesthesia, not provided, Hypokalemic periodic paralysis	Benign (Jun 16, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32912991.	NM_000540.3(RYR1):c.13437+14C>A GRCh37: Chr19:39056425 GRCh38: Chr19:38565785	RYR1		Malignant hyperthermia of anesthesia, Multiminicore myopathy, Central core myopathy, Neuromuscular disease, congenital, with uniform type 1 fiber	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32912892.	NM_000540.3(RYR1):c.13359_13364dup (p.Leu4454_Gly4455dup) GRCh37: Chr19:39056329-39056330 GRCh38: Chr19:38565689-38565690	RYR1		Malignant hyperthermia of anesthesia, Multiminicore myopathy, Neuromuscular disease, congenital, with uniform type 1 fiber, Central core myopathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32912793.	NM_000540.3(RYR1):c.13352C>A (p.Ala4451Asp) GRCh37: Chr19:39056326 GRCh38: Chr19:38565686	RYR1	A4451D, A4446D	Malignant hyperthermia of anesthesia, Multiminicore myopathy, Neuromuscular disease, congenital, with uniform type 1 fiber, Central core myopathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32912294.	NM_000540.3(RYR1):c.13038T>C (p.Ala4346=) GRCh37: Chr19:39056012 GRCh38: Chr19:38565372	RYR1		Malignant hyperthermia of anesthesia, Multiminicore myopathy, Neuromuscular disease, congenital, with uniform type 1 fiber, Central core myopathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32911595.	NM_000540.3(RYR1):c.12619C>A (p.Pro4207Thr) GRCh37: Chr19:39052089 GRCh38: Chr19:38561449	RYR1	P4207T, P4202T	Malignant hyperthermia of anesthesia, Multiminicore myopathy, Neuromuscular disease, congenital, with uniform type 1 fiber, Central core myopathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32911296.	NM_000540.3(RYR1):c.12084G>T (p.Ser4028=) GRCh37: Chr19:39037156 GRCh38: Chr19:38546516	RYR1		Malignant hyperthermia of anesthesia, Multiminicore myopathy, Central core myopathy, Neuromuscular disease, congenital, with uniform type 1 fiber	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32910997.	NM_000540.3(RYR1):c.11517C>T (p.Ser3839=) GRCh37: Chr19:39026637 GRCh38: Chr19:38535997	RYR1		RYR1-Related Disorders, Malignant hyperthermia of anesthesia, Multiminicore myopathy, Central core myopathy, Neuromuscular disease, congenital, with uniform type 1 fiber	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 32910698.	NM_000540.3(RYR1):c.11292C>T (p.Tyr3764=) GRCh37: Chr19:39025392 GRCh38: Chr19:38534752	RYR1		RYR1-Related Disorders, Malignant hyperthermia of anesthesia, Multiminicore myopathy, Neuromuscular disease, congenital, with uniform type 1 fiber, Central core myopathy	Conflicting interpretations of pathogenicity (Sep 26, 2018)	criteria provided, conflicting interpretations
Select item 32910499.	NM_000540.3(RYR1):c.11193+3G>A GRCh37: Chr19:39023184 GRCh38: Chr19:38532544	RYR1		RYR1-Related Disorders, Malignant hyperthermia of anesthesia, Multiminicore myopathy, not provided, Central core myopathy, Neuromuscular disease, congenital, with uniform type 1 fiber, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion, King Denborough syndrome, Malignant hyperthermia, susceptibility to, 1 ...see more	Uncertain significance (Jan 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 329099100.	NM_000540.3(RYR1):c.10359C>T (p.Arg3453=) GRCh37: Chr19:39013868 GRCh38: Chr19:38523228	RYR1		RYR1-Related Disorders, Malignant hyperthermia of anesthesia, Multiminicore myopathy, not provided, Neuromuscular disease, congenital, with uniform type 1 fiber, Central core myopathy	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations

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