ClinVar for MedGen (Select 318748) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442200	NM_001035.3(RYR2):c.14751T>G (p.Asn4917Lys)	RYR2 (N4917K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 2441802	NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe)	RYR2 (L3935F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely pathogenic
Select item 1709904	NM_001035.3(RYR2):c.1853G>T (p.Cys618Phe)	RYR2 (C618F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2	GUncertain significance
Select item 1709903	NM_001035.3(RYR2):c.5962T>C (p.Cys1988Arg)	RYR2 (C1988R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +1 more	GUncertain significance
Select item 1709600	NM_001035.3(RYR2):c.8960G>A (p.Ser2987Asn)	RYR2 (S2987N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2	GUncertain significance
Select item 1709321	NM_001035.3(RYR2):c.1818A>C (p.Arg606Ser)	RYR2 (R606S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2	GUncertain significance
Select item 1709175	NM_001035.3(RYR2):c.14014A>T (p.Met4672Leu)	RYR2 (M4672L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2	GUncertain significance
Select item 1696544	NM_001035.3(RYR2):c.8437-1390C>T	RYR2	Single nucleotide variant (intron variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +2 more	GUncertain significance
Select item 1691305	NM_001035.3(RYR2):c.6484A>C (p.Met2162Leu)	RYR2 (M2162L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 1677954	NM_001035.3(RYR2):c.808C>T (p.His270Tyr)	RYR2 (H270Y)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +3 more	GUncertain significance
Select item 1677644	NM_001035.3(RYR2):c.14843G>A (p.Cys4948Tyr)	RYR2 (C4948Y)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +3 more	GUncertain significance
Select item 1588313	NM_001035.3(RYR2):c.1320G>A (p.Ala440=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GLikely benign
Select item 1494507	NM_001035.3(RYR2):c.6322A>G (p.Ile2108Val)	RYR2 (I2108V)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +2 more	GUncertain significance
Select item 1491719	NM_001035.3(RYR2):c.9693G>A (p.Met3231Ile)	RYR2 (M3231I)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +3 more	GUncertain significance
Select item 1480581	NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu)	RYR2 (V3875L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GLikely pathogenic
Select item 1469119	NM_001035.3(RYR2):c.14080T>G (p.Leu4694Val)	RYR2 (L4694V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1450831	NM_001035.3(RYR2):c.7940G>A (p.Gly2647Asp)	RYR2 (G2647D)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 1441965	NM_001035.3(RYR2):c.10837A>G (p.Arg3613Gly)	RYR2 (R3613G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 1440538	NM_001035.3(RYR2):c.8543A>G (p.Tyr2848Cys)	RYR2 (Y2848C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 1436888	NM_001035.3(RYR2):c.596G>T (p.Gly199Val)	RYR2 (G199V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 1434630	NM_001035.3(RYR2):c.12861C>G (p.Tyr4287Ter)	LOC126806068, RYR2 (Y4287*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1428109	NM_001035.3(RYR2):c.9787A>T (p.Met3263Leu)	RYR2 (M3263L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GUncertain significance
Select item 1418497	NM_001035.3(RYR2):c.5080A>G (p.Met1694Val)	RYR2 (M1694V)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1409844	NM_001035.3(RYR2):c.2641A>G (p.Ile881Val)	RYR2 (I881V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GUncertain significance
Select item 1404674	NM_001035.3(RYR2):c.13984G>C (p.Gly4662Arg)	RYR2 (G4662R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GUncertain significance
Select item 1397132	NM_001035.3(RYR2):c.6938T>C (p.Val2313Ala)	RYR2 (V2313A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +3 more	GUncertain significance
Select item 1359967	NM_001035.3(RYR2):c.392G>A (p.Cys131Tyr)	RYR2 (C131Y)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 1349476	NM_001035.3(RYR2):c.4294A>G (p.Ile1432Val)	RYR2 (I1432V)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 1339057	NM_001035.3(RYR2):c.13900G>A (p.Val4634Ile)	RYR2 (V4634I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2	GUncertain significance
Select item 1333181	NM_015978.3(TNNI3K):c.1538T>C (p.Leu513Pro)	FPGT-TNNI3K, TNNI3K (L513P +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2	GLikely pathogenic
Select item 1332608	NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser)	RYR2 (F2304S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 1332517	NM_001035.3(RYR2):c.13734G>A (p.Leu4578=)	RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GLikely benign
Select item 1332236	NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys)	LOC126806068, RYR2 (E4222K)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 1330215	NM_001035.3(RYR2):c.1646C>T (p.Ala549Val)	RYR2 (A549V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +1 more	GLikely pathogenic
Select item 1326630	NM_001035.3(RYR2):c.3304T>G (p.Tyr1102Asp)	RYR2 (Y1102D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1315719	NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp)	RYR2 (R1888W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1174950	NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr)	RYR2 (I2789T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GUncertain significance
Select item 1172178	NM_001035.3(RYR2):c.824G>A (p.Trp275Ter)	RYR2 (W275*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GUncertain significance
Select item 1171828	NM_001035.3(RYR2):c.13661T>C (p.Ile4554Thr)	RYR2 (I4554T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 1171668	NM_001035.3(RYR2):c.3414T>A (p.Asp1138Glu)	RYR2 (D1138E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GUncertain significance
Select item 1064019	NM_001035.3(RYR2):c.9686C>T (p.Thr3229Ile)	RYR2 (T3229I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 1060539	NM_001035.3(RYR2):c.5311A>G (p.Ile1771Val)	RYR2 (I1771V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GConflicting classifications of pathogenicity
Select item 1046429	NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys)	RYR2 (G2271C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GUncertain significance
Select item 1044625	NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp)	RYR2 (G348D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GUncertain significance
Select item 1043236	NM_001035.3(RYR2):c.995G>A (p.Arg332Gln)	RYR2 (R332Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +3 more	GUncertain significance
Select item 1036906	NM_001035.3(RYR2):c.9703A>G (p.Met3235Val)	RYR2 (M3235V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GUncertain significance
Select item 1019767	NM_001035.3(RYR2):c.4910+3C>G	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 1014648	NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly)	LOC126806068, RYR2 (S4289G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GConflicting classifications of pathogenicity
Select item 1013989	NM_001035.3(RYR2):c.2416G>C (p.Gly806Arg)	RYR2 (G806R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 1003245	NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly)	LOC126806068, RYR2 (E4213G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GConflicting classifications of pathogenicity
Select item 1002881	NM_001035.3(RYR2):c.10612A>C (p.Thr3538Pro)	RYR2 (T3538P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 1001768	NM_001035.3(RYR2):c.4457A>G (p.Tyr1486Cys)	RYR2 (Y1486C)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 1000627	NM_001035.3(RYR2):c.1316A>C (p.Lys439Thr)	RYR2 (K439T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 983147	NM_001035.3(RYR2):c.6202C>T (p.Arg2068Ter)	RYR2 (R2068*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 2	GPathogenic
Select item 982634	NM_001035.3(RYR2):c.8659dup (p.Glu2887fs)	RYR2 (E2887fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 2	GLikely pathogenic
Select item 970017	NM_001035.3(RYR2):c.14161T>C (p.Tyr4721His)	RYR2 (Y4721H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 969642	NM_001035.3(RYR2):c.13615A>C (p.Ser4539Arg)	RYR2 (S4539R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 959866	NM_001035.3(RYR2):c.1179G>A (p.Met393Ile)	RYR2 (M393I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 949333	NM_001035.3(RYR2):c.5671G>A (p.Glu1891Lys)	RYR2 (E1891K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GConflicting classifications of pathogenicity
Select item 941880	NM_001035.3(RYR2):c.7895C>T (p.Ala2632Val)	RYR2 (A2632V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 935174	NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn)	RYR2 (D849N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GConflicting classifications of pathogenicity
Select item 933457	NM_001035.3(RYR2):c.80C>G (p.Thr27Ser)	RYR2 (T27S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +3 more	GUncertain significance
Select item 928258	NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg)	RYR2 (G1082R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GUncertain significance
Select item 927712	NM_001035.3(RYR2):c.12920G>A (p.Arg4307His)	LOC126806068, RYR2 (R4307H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 927660	NM_001035.3(RYR2):c.14217dup (p.Ala4740fs)	RYR2 (A4740fs)	Duplication (frameshift variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 927498	NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met)	RYR2 (T1056M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GUncertain significance
Select item 927473	NM_001035.3(RYR2):c.13630G>A (p.Val4544Met)	RYR2 (V4544M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GUncertain significance
Select item 927332	NM_001035.3(RYR2):c.10663G>A (p.Ala3555Thr)	RYR2 (A3555T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 926919	NM_001035.3(RYR2):c.2275T>G (p.Leu759Val)	RYR2 (L759V)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 926394	NM_001035.3(RYR2):c.7501T>G (p.Ser2501Ala)	RYR2 (S2501A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GUncertain significance
Select item 926227	NM_001035.3(RYR2):c.2459C>G (p.Ala820Gly)	RYR2 (A820G)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 926131	NM_001035.3(RYR2):c.4531G>T (p.Val1511Leu)	RYR2 (V1511L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GUncertain significance
Select item 926036	NM_001035.3(RYR2):c.6772C>T (p.Arg2258Cys)	RYR2 (R2258C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 926033	NM_001035.3(RYR2):c.6849G>C (p.Lys2283Asn)	RYR2 (K2283N)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +3 more	GUncertain significance
Select item 925750	NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys)	RYR2 (E1837K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 925494	NM_001035.3(RYR2):c.6233C>T (p.Pro2078Leu)	RYR2 (P2078L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 925367	NM_001035.3(RYR2):c.13061T>G (p.Leu4354Arg)	LOC126806068, RYR2 (L4354R)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 924877	NM_001035.3(RYR2):c.1556G>C (p.Gly519Ala)	RYR2 (G519A)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 923717	NM_001035.3(RYR2):c.5525T>C (p.Ile1842Thr)	RYR2 (I1842T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 923549	NM_001035.3(RYR2):c.1864G>A (p.Gly622Arg)	RYR2 (G622R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 923520	NM_001035.3(RYR2):c.1964T>C (p.Met655Thr)	RYR2 (M655T)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 922948	NM_001035.3(RYR2):c.12192A>C (p.Glu4064Asp)	RYR2 (E4064D)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +4 more	GUncertain significance
Select item 922944	NM_001035.3(RYR2):c.14151C>T (p.Asn4717=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 922515	NM_001035.3(RYR2):c.12770G>A (p.Arg4257Gln)	LOC126806068, RYR2 (R4257Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GUncertain significance
Select item 922238	NM_001035.3(RYR2):c.5917A>G (p.Ile1973Val)	RYR2 (I1973V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 921094	NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile)	RYR2 (V2524I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +5 more	GUncertain significance
Select item 920849	NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu)	RYR2 (R3510L)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 919024	NM_001035.3(RYR2):c.5600A>C (p.Glu1867Ala)	RYR2 (E1867A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GUncertain significance
Select item 918942	NM_001035.3(RYR2):c.5821C>T (p.Arg1941Cys)	RYR2 (R1941C)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 918855	NM_001035.3(RYR2):c.4161-5T>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 918730	NM_001035.3(RYR2):c.14062C>G (p.Pro4688Ala)	RYR2 (P4688A)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 918729	NM_001035.3(RYR2):c.1559G>T (p.Arg520Leu)	RYR2 (R520L)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 918690	NM_001035.3(RYR2):c.2353G>A (p.Asp785Asn)	RYR2 (D785N)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 918395	NM_001035.3(RYR2):c.7750A>G (p.Met2584Val)	RYR2 (M2584V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GUncertain significance
Select item 918326	NM_001035.3(RYR2):c.2617G>A (p.Val873Met)	RYR2 (V873M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +5 more	GUncertain significance
Select item 876917	NM_001035.3(RYR2):c.*1268G>A	RYR2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 2 +1 more	GUncertain significance
Select item 876816	NM_001035.3(RYR2):c.*55T>C	RYR2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 2 +1 more	GBenign/Likely benign
Select item 876480	NM_001035.3(RYR2):c.7897G>A (p.Ala2633Thr)	RYR2 (A2633T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 876479	NM_001035.3(RYR2):c.7634T>C (p.Ile2545Thr)	RYR2 (I2545T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 876433	NM_001035.3(RYR2):c.7035A>T (p.Ala2345=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity

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