6261[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2435577	NM_000540.3(RYR1):c.-568T>C	RYR1	Single nucleotide variant	not provided	GUncertain significance
Select item 671167	NM_000540.2(RYR1):c.-431C>A	RYR1	Single nucleotide variant	not provided	GLikely benign
Select item 1189220	NC_000019.10:g.38433428C>T	RYR1	Single nucleotide variant	not provided	GLikely benign
Select item 1180237	NC_000019.10:g.38433516A>G	RYR1	Single nucleotide variant	not provided	GLikely benign
Select item 671187	NM_000540.2(RYR1):c.-298A>T	RYR1	Single nucleotide variant	not provided	GLikely benign
Select item 891677	NM_000540.3(RYR1):c.-118G>A	LOC130064350, RYR1	Single nucleotide variant (5 prime UTR variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 132987	NM_000540.3(RYR1):c.-108T>C	RYR1	Single nucleotide variant (5 prime UTR variant)	RYR1-related myopathy	GBenign FDA Recognized database
Select item 328985	NM_000540.3(RYR1):c.-102C>T	RYR1	Single nucleotide variant (5 prime UTR variant)	Central core myopathy +4 more	GBenign/Likely benign
Select item 1211621	NM_000540.3(RYR1):c.-78_-55del	RYR1	Deletion (5 prime UTR variant)	not provided	GLikely benign
Select item 328986	NM_000540.3(RYR1):c.-81dup	RYR1	Duplication (5 prime UTR variant)	Central core myopathy +3 more	GUncertain significance
Select item 328987	NM_000540.3(RYR1):c.-74A>C	RYR1	Single nucleotide variant (5 prime UTR variant)	Neuromuscular disease, congenital, with uniform type 1 fiber +5 more	GUncertain significance
Select item 328988	NM_000540.3(RYR1):c.-70dup	RYR1	Duplication (5 prime UTR variant)	Central core myopathy +3 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)	Neuromuscular disease, congenital, with uniform type 1 fiber +5 more	GUncertain significance
Select item 889936	NM_000540.3(RYR1):c.-65G>C	RYR1	Single nucleotide variant (5 prime UTR variant)	Central core myopathy +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 256385	NM_000540.3(RYR1):c.-37C>G	RYR1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 544532	NC_000019.9:g.(?_38924450)_(38935337_?)dup	RYR1	Duplication	RYR1-related disorder	GUncertain significance
Select item 2435601	NM_000540.3(RYR1):c.3G>C (p.Met1Ile)	RYR1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	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 1982097	NM_000540.3(RYR1):c.21A>G (p.Glu7=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 574005	NM_000540.3(RYR1):c.24_26dup (p.Asp8dup)	RYR1	Duplication (inframe_insertion)	RYR1-related disorder	GUncertain significance
Select item 1312192	NM_000540.3(RYR1):c.24C>A (p.Asp8Glu)	RYR1 (D8E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 763357	NM_000540.3(RYR1):c.33G>A (p.Gln11=)	RYR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2727322	NM_000540.3(RYR1):c.34T>C (p.Phe12Leu)	RYR1 (F12L)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 133128	NM_000540.3(RYR1):c.35_37delinsCG (p.Phe12fs)	RYR1 (F12fs)	Indel (frameshift variant)	not provided	Gnot provided
Select item 3072673	NM_000540.3(RYR1):c.36C>G (p.Phe12Leu)	RYR1 (F12L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 133129	NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)	RYR1 (L13R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 2435569	NM_000540.3(RYR1):c.40C>T (p.Arg14Trp)	RYR1 (R14W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 763445	NM_000540.3(RYR1):c.40C>A (p.Arg14=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +1 more	GLikely benign
Select item 1530346	NM_000540.3(RYR1):c.42G>C (p.Arg14=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2175683	NM_000540.3(RYR1):c.45G>A (p.Thr15=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GUncertain significance
Select item 2026049	NM_000540.3(RYR1):c.45+1G>A	RYR1	Single nucleotide variant (splice donor variant)	RYR1-related disorder	GLikely pathogenic
Select item 590535	NM_000540.3(RYR1):c.45+6T>C	RYR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2886812	NM_000540.3(RYR1):c.45+9C>T	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 3018685	NM_000540.3(RYR1):c.45+19G>C	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 2888362	NM_000540.3(RYR1):c.45+22del	RYR1	Deletion (intron variant)	RYR1-related disorder	GBenign
Select item 2914288	NM_000540.3(RYR1):c.45+20G>T	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 256511	NM_000540.3(RYR1):c.45+32C>A	RYR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1298105	NM_000540.3(RYR1):c.45+121A>G	RYR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 133131	NM_000540.3(RYR1):c.45+300T>C	RYR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2893079	NM_000540.3(RYR1):c.46-20G>T	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 2772695	NM_000540.3(RYR1):c.46-20G>A	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 2783797	NM_000540.3(RYR1):c.46-18T>C	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 2780959	NM_000540.3(RYR1):c.46-16C>A	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 2726069	NM_000540.3(RYR1):c.46-11C>T	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 1909138	NM_000540.3(RYR1):c.46-10G>C	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 1435104	NM_000540.3(RYR1):c.46-10G>A	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 1136239	NM_000540.3(RYR1):c.46-9G>A	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 590536	NM_000540.3(RYR1):c.46-5C>T	RYR1	Single nucleotide variant (intron variant)	not provided +6 more	GLikely benign
Select item 1585924	NM_000540.3(RYR1):c.46-4G>C	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 699389	NM_000540.3(RYR1):c.46-4G>A	RYR1	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +5 more	GConflicting classifications of pathogenicity
Select item 256512	NM_000540.3(RYR1):c.46-4G>T	RYR1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1524261	NM_000540.3(RYR1):c.46-1G>A	RYR1	Single nucleotide variant (splice acceptor variant)	RYR1-related myopathy +2 more	GLikely pathogenic
Select item 2179300	NM_000540.3(RYR1):c.47A>G (p.Asp16Gly)	RYR1 (D16G)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 2911867	NM_000540.3(RYR1):c.48C>T (p.Asp16=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GLikely benign
Select item 842174	NM_000540.3(RYR1):c.49G>A (p.Asp17Asn)	RYR1 (D17N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 133146	NM_000540.3(RYR1):c.51_53del (p.Asp17del)	RYR1 (D17del)	Deletion (inframe_deletion)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 1138931	NM_000540.3(RYR1):c.54G>A (p.Glu18=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +1 more	GLikely benign
Select item 3074459	NM_000540.3(RYR1):c.56T>C (p.Val19Ala)	RYR1 (V19A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3063659	NM_000540.3(RYR1):c.58G>A (p.Val20Ile)	RYR1 (V20I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1614988	NM_000540.3(RYR1):c.60C>T (p.Val20=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2821416	NM_000540.3(RYR1):c.63G>C (p.Leu21=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2971320	NM_000540.3(RYR1):c.66G>A (p.Gln22=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2919988	NM_000540.3(RYR1):c.70del (p.Ser24fs)	RYR1 (S24fs)	Deletion (frameshift variant)	RYR1-related disorder	GPathogenic
Select item 544474	NM_000540.3(RYR1):c.72C>T (p.Ser24=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3368024	NM_000540.3(RYR1):c.73G>C (p.Ala25Pro)	RYR1 (A25P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3072600	NM_000540.3(RYR1):c.73G>A (p.Ala25Thr)	RYR1 (A25T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 891745	NM_000540.3(RYR1):c.76A>C (p.Thr26Pro)	RYR1 (T26P)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 1563888	NM_000540.3(RYR1):c.78C>T (p.Thr26=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GLikely benign
Select item 666139	NM_000540.3(RYR1):c.79G>A (p.Val27Met)	RYR1 (V27M)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1582527	NM_000540.3(RYR1):c.81G>A (p.Val27=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 544416	NM_000540.3(RYR1):c.82C>T (p.Leu28Phe)	RYR1 (L28F)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1537356	NM_000540.3(RYR1):c.84C>T (p.Leu28=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 1016809	NM_000540.3(RYR1):c.85A>G (p.Lys29Glu)	RYR1 (K29E)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 224362	NM_000540.3(RYR1):c.89A>T (p.Glu30Val)	RYR1 (E30V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GConflicting classifications of pathogenicity
Select item 3074235	NM_000540.3(RYR1):c.92A>G (p.Gln31Arg)	RYR1 (Q31R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 2780878	NM_000540.3(RYR1):c.93G>A (p.Gln31=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 195083	NM_000540.3(RYR1):c.94C>T (p.Leu32Phe)	RYR1 (L32F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2236131	NM_000540.3(RYR1):c.97A>C (p.Lys33Gln)	RYR1 (K33Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 55831	NM_000540.3(RYR1):c.97A>G (p.Lys33Glu)	RYR1 (K33E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 2118550	NM_000540.3(RYR1):c.98A>G (p.Lys33Arg)	RYR1 (K33R)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 1045477	NM_000540.3(RYR1):c.100C>G (p.Leu34Val)	RYR1 (L34V)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 132995	NM_000540.3(RYR1):c.103T>C (p.Cys35Arg)	RYR1 (C35R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
Select item 2726768	NM_000540.3(RYR1):c.111C>T (p.Ala37=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GLikely benign
Select item 658548	NM_000540.3(RYR1):c.112G>A (p.Ala38Thr)	RYR1 (A38T)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 478158	NM_000540.3(RYR1):c.112G>T (p.Ala38Ser)	RYR1 (A38S)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 256406	NM_000540.3(RYR1):c.114C>T (p.Ala38=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +2 more	GLikely benign
Select item 590387	NM_000540.3(RYR1):c.115G>A (p.Glu39Lys)	RYR1 (E39K)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 808526	NM_000540.3(RYR1):c.116A>G (p.Glu39Gly)	RYR1 (E39G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340407	NM_000540.3(RYR1):c.119G>T (p.Gly40Val)	RYR1 (G40V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1210306	NM_000540.3(RYR1):c.119G>C (p.Gly40Ala)	RYR1 (G40A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 2792224	NM_000540.3(RYR1):c.120C>T (p.Gly40=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +1 more	GLikely benign
Select item 478170	NM_000540.3(RYR1):c.122T>C (p.Phe41Ser)	RYR1 (F41S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 389560	NM_000540.3(RYR1):c.123C>T (p.Phe41=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GLikely benign
Select item 2435630	NM_000540.3(RYR1):c.124G>A (p.Gly42Ser)	RYR1 (G42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521422	NM_000540.3(RYR1):c.124G>C (p.Gly42Arg)	RYR1 (G42R)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance

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