ClinVar for MedGen (Select 75731) - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2674602	NC_000002.12:g.178532523del	TTN, TTN-AS1 (R25633fs +5 more)	Deletion (frameshift variant)	Multiminicore myopathy	GUncertain significance
Select item 2674590	NM_014370.4(SRPK3):c.749-2A>G	SRPK3	Single nucleotide variant (splice acceptor variant)	Multiminicore myopathy	GUncertain significance
Select item 1009361	NM_000540.3(RYR1):c.5962G>A (p.Ala1988Thr)	RYR1 (A1988T)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 870629	NM_001267550.2(TTN):c.85818T>A (p.Tyr28606Ter)	TTN, TTN-AS1 (Y19666* +5 more)	Single nucleotide variant (nonsense)	Multiminicore myopathy	GPathogenic
Select item 828055	NM_005087.4(FXR1):c.1603+733del	FXR1	Deletion (intron variant)	Multiminicore myopathy	GUncertain significance
Select item 660051	NM_000540.3(RYR1):c.6891+3G>T	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 548498	NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile)	RYR1 (N3896I +1 more)	Single nucleotide variant (missense variant)	Multiminicore myopathy +3 more	GUncertain significance
Select item 544446	NM_000540.3(RYR1):c.13069C>A (p.Leu4357Met)	RYR1 (L4357M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 544410	NM_000540.3(RYR1):c.3043C>T (p.Arg1015Cys)	RYR1 (R1015C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 478250	NM_000540.3(RYR1):c.6274+1G>A	RYR1	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
Select item 440962	NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)	RYR1 (P1293T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 329129	NM_000540.3(RYR1):c.13437+14C>A	RYR1	Single nucleotide variant (intron variant)	Central core myopathy +3 more	GUncertain significance
Select item 329128	NM_000540.3(RYR1):c.13359_13364dup (p.Leu4454_Gly4455dup)	RYR1	Duplication (inframe_insertion)	Neuromuscular disease, congenital, with uniform type 1 fiber +3 more	GUncertain significance
Select item 329127	NM_000540.3(RYR1):c.13352C>A (p.Ala4451Asp)	RYR1 (A4451D +1 more)	Single nucleotide variant (missense variant)	Neuromuscular disease, congenital, with uniform type 1 fiber +3 more	GUncertain significance
Select item 329122	NM_000540.3(RYR1):c.13038T>C (p.Ala4346=)	RYR1	Single nucleotide variant (synonymous variant)	Multiminicore myopathy +4 more	GConflicting classifications of pathogenicity
Select item 329115	NM_000540.3(RYR1):c.12619C>A (p.Pro4207Thr)	RYR1 (P4207T +1 more)	Single nucleotide variant (missense variant)	Multiminicore myopathy +3 more	GUncertain significance
Select item 329112	NM_000540.3(RYR1):c.12084G>T (p.Ser4028=)	RYR1	Single nucleotide variant (synonymous variant)	Multiminicore myopathy +4 more	GConflicting classifications of pathogenicity
Select item 329109	NM_000540.3(RYR1):c.11517C>T (p.Ser3839=)	RYR1	Single nucleotide variant (synonymous variant)	Neuromuscular disease, congenital, with uniform type 1 fiber +5 more	GConflicting classifications of pathogenicity
Select item 329106	NM_000540.3(RYR1):c.11292C>T (p.Tyr3764=)	RYR1	Single nucleotide variant (synonymous variant)	Neuromuscular disease, congenital, with uniform type 1 fiber +5 more	GConflicting classifications of pathogenicity
Select item 329104	NM_000540.3(RYR1):c.11193+3G>A	RYR1	Single nucleotide variant (intron variant)	Central core myopathy +9 more	GUncertain significance
Select item 329099	NM_000540.3(RYR1):c.10359C>T (p.Arg3453=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +5 more	GConflicting classifications of pathogenicity
Select item 329094	NM_000540.3(RYR1):c.9846C>T (p.Pro3282=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +3 more	GUncertain significance
Select item 329089	NM_000540.3(RYR1):c.9555-10C>T	RYR1	Single nucleotide variant (intron variant)	Multiminicore myopathy +5 more	GConflicting classifications of pathogenicity
Select item 329087	NM_000540.3(RYR1):c.9261C>T (p.Ile3087=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
Select item 329086	NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile)	RYR1 (V3050I)	Single nucleotide variant (missense variant)	RYR1-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 329085	NM_000540.3(RYR1):c.9093C>T (p.Ala3031=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related myopathy	GLikely benignFDA Recognized database
Select item 329079	NM_000540.3(RYR1):c.8514A>C (p.Lys2838Asn)	LOC126862902, RYR1 (K2838N)	Single nucleotide variant (missense variant)	Neuromuscular disease, congenital, with uniform type 1 fiber +5 more	GConflicting classifications of pathogenicity
Select item 329076	NM_000540.3(RYR1):c.8082G>A (p.Glu2694=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +5 more	GConflicting classifications of pathogenicity
Select item 329069	NM_000540.3(RYR1):c.7842C>T (p.Ile2614=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +4 more	GConflicting classifications of pathogenicity
Select item 329060	NM_000540.3(RYR1):c.7344T>C (p.Gly2448=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 329059	NM_000540.3(RYR1):c.7136C>A (p.Ala2379Asp)	RYR1 (A2379D)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia +3 more	GUncertain significance
Select item 329058	NM_000540.3(RYR1):c.7053T>C (p.Asn2351=)	RYR1	Single nucleotide variant (synonymous variant)	Neuromuscular disease, congenital, with uniform type 1 fiber +4 more	GConflicting classifications of pathogenicity
Select item 329056	NM_000540.3(RYR1):c.6910G>A (p.Gly2304Ser)	RYR1 (G2304S)	Single nucleotide variant (missense variant)	Central core myopathy +10 more	GUncertain significance
Select item 329054	NM_000540.3(RYR1):c.6730C>T (p.Arg2244Trp)	RYR1 (R2244W)	Single nucleotide variant (missense variant)	Neuromuscular disease, congenital, with uniform type 1 fiber +9 more	GUncertain significance
Select item 329053	NM_000540.3(RYR1):c.6651C>T (p.Gly2217=)	RYR1	Single nucleotide variant (synonymous variant)	Neuromuscular disease, congenital, with uniform type 1 fiber +4 more	GConflicting classifications of pathogenicity
Select item 329047	NM_000540.3(RYR1):c.6318C>A (p.Ala2106=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GConflicting classifications of pathogenicity
Select item 329041	NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del)	RYR1 (E1878del)	Microsatellite (inframe_deletion)	Neuromuscular disease, congenital, with uniform type 1 fiber +7 more	GConflicting classifications of pathogenicity
Select item 329037	NM_000540.3(RYR1):c.5438G>T (p.Arg1813Met)	RYR1 (R1813M)	Single nucleotide variant (missense variant)	Central core myopathy +3 more	GUncertain significance
Select item 329032	NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys)	RYR1 (R1583C)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significanceFDA Recognized database
Select item 329031	NM_000540.3(RYR1):c.4637A>G (p.Lys1546Arg)	RYR1 (K1546R)	Single nucleotide variant (missense variant)	Central core myopathy +7 more	GUncertain significance
Select item 329016	NM_000540.3(RYR1):c.4074G>A (p.Gly1358=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +7 more	GLikely benign
Select item 329013	NM_000540.3(RYR1):c.3773G>T (p.Arg1258Leu)	RYR1 (R1258L)	Single nucleotide variant (missense variant)	Multiminicore myopathy +3 more	GUncertain significance
Select item 329008	NM_000540.3(RYR1):c.3299G>A (p.Arg1100His)	RYR1 (R1100H)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GUncertain significance
Select item 329005	NM_000540.3(RYR1):c.3021C>T (p.Ser1007=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 328993	NM_000540.3(RYR1):c.577T>A (p.Ser193Thr)	RYR1 (S193T)	Single nucleotide variant (missense variant)	RYR1-related myopathy	GUncertain significanceFDA Recognized database
Select item 328992	NM_000540.3(RYR1):c.537+13G>A	RYR1	Single nucleotide variant (intron variant)	Neuromuscular disease, congenital, with uniform type 1 fiber +4 more	GConflicting classifications of pathogenicity
Select item 328988	NM_000540.3(RYR1):c.-70dup	RYR1	Duplication (5 prime UTR variant)	Malignant hyperthermia of anesthesia +3 more	GUncertain significance
Select item 328986	NM_000540.3(RYR1):c.-81dup	RYR1	Duplication (5 prime UTR variant)	Central core myopathy +3 more	GUncertain significance
Select item 290291	NM_001267550.2(TTN):c.102795TAA[1] (p.Asn34266del)	TTN, TTN-AS1 (N31698del +5 more)	Microsatellite (inframe_deletion)	Multiminicore myopathy +5 more	GConflicting classifications of pathogenicity
Select item 287319	NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu)	RYR1 (M4457L +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 256587	NM_000540.3(RYR1):c.9771C>T (p.Ala3257=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia of anesthesia +7 more	GBenign/Likely benign
Select item 256586	NM_000540.3(RYR1):c.958-11del	RYR1	Deletion (intron variant)	RYR1-related myopathy	GLikely benignFDA Recognized database
Select item 256554	NM_000540.3(RYR1):c.7615-7G>A	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +7 more	GBenign/Likely benign
Select item 256540	NM_000540.3(RYR1):c.6732G>A (p.Arg2244=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia of anesthesia +7 more	GBenign/Likely benign
Select item 256506	NM_000540.3(RYR1):c.4294-4C>T	RYR1	Single nucleotide variant (intron variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 256495	NM_000540.3(RYR1):c.3567C>T (p.Pro1189=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +6 more	GLikely benign
Select item 256491	NM_000540.3(RYR1):c.3381C>T (p.Arg1127=)	RYR1	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 256471	NM_000540.3(RYR1):c.2241G>A (p.Leu747=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +7 more	GBenign/Likely benign
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 256386	NM_000540.3(RYR1):c.10048C>A (p.Arg3350=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related myopathy	GLikely benignFDA Recognized database
Select item 212092	NM_000540.3(RYR1):c.12588C>T (p.Ile4196=)	RYR1	Single nucleotide variant (synonymous variant)	Multiminicore myopathy +6 more	GConflicting classifications of pathogenicity
Select item 199216	NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal)	RYR1	Indel (inframe_indel)	RYR1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 161370	NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg)	RYR1 (P1267R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 161368	NM_000540.3(RYR1):c.2119G>A (p.Gly707Ser)	RYR1 (G707S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 161365	NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)	RYR1 (E3238G)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 159852	NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)	RYR1 (P1632S)	Single nucleotide variant (missense variant)	Neuromuscular disease, congenital, with uniform type 1 fiber +8 more	GConflicting classifications of pathogenicity
Select item 159835	NM_000540.3(RYR1):c.13464G>A (p.Pro4488=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia of anesthesia +7 more	GBenign/Likely benign
Select item 133043	NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)	RYR1 (A4295V +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenignFDA Recognized database
Select item 93305	NM_000540.3(RYR1):c.8949T>C (p.Ser2983=)	RYR1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 93304	NM_000540.3(RYR1):c.8827G>A (p.Asp2943Asn)	RYR1 (D2943N)	Single nucleotide variant (missense variant)	Neuromuscular disease, congenital, with uniform type 1 fiber +7 more	GBenign/Likely benign
Select item 93275	NM_000540.3(RYR1):c.5634G>C (p.Glu1878Asp)	RYR1 (E1878D)	Single nucleotide variant (missense variant)	Neuromuscular disease, congenital, with uniform type 1 fiber +7 more	GBenign/Likely benign
Select item 93266	NM_000540.3(RYR1):c.4071C>T (p.Pro1357=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia of anesthesia +6 more	GBenign/Likely benign
Select item 93244	NM_000540.3(RYR1):c.10941C>G (p.His3647Gln)	RYR1 (H3642Q)	Single nucleotide variant (missense variant)	Neuromuscular disease, congenital, with uniform type 1 fiber +7 more	GBenign/Likely benign

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Items: 73