ClinVar for MedGen (Select 351513) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256883	NM_001035.3(RYR2):c.4799C>A (p.Pro1600His)	RYR2 (P1600H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3256645	NM_001035.3(RYR2):c.10192A>C (p.Met3398Leu)	RYR2 (M3398L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3255050	NM_001035.3(RYR2):c.12457A>C (p.Ser4153Arg)	LOC126806068, RYR2 (S4153R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely pathogenic
Select item 3247740	NC_000001.10:g.(?_116287429)_(116287553_?)del	CASQ2	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 3247739	NC_000001.10:g.(?_116243862)_(116244067_?)del	CASQ2	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 3247738	NC_000001.10:g.(?_237905576)_(237958651_?)dup	RYR2	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247737	NC_000001.10:g.(?_237837376)_(237995947_?)dup	RYR2	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247736	NC_000001.10:g.(?_237823265)_(237965236_?)dup	RYR2	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247735	NC_000001.10:g.(?_237659791)_(237794861_?)dup	RYR2	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247734	NC_000001.10:g.(?_237655086)_(237995947_?)dup	RYR2	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247733	NC_000001.10:g.(?_237982316)_(237982512_?)dup	RYR2	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247731	NC_000001.10:g.(?_236902582)_(237995947_?)dup	ACTN2, MT1HL1 +2 more	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247730	NC_000001.10:g.(?_237862245)_(237881841_?)del	RYR2	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247729	NC_000001.10:g.(?_237494158)_(237670134_?)del	RYR2	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247728	NC_000001.10:g.(?_237711711)_(237714011_?)del	RYR2	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247727	NC_000001.10:g.(?_237433777)_(237632507_?)del	RYR2	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247726	NC_000001.10:g.(?_237586372)_(237732639_?)del	RYR2	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247725	NC_000001.10:g.(?_236902582)_(237944966_?)del	ACTN2, MT1HL1 +2 more	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247724	NC_000001.10:g.(?_237494158)_(237494302_?)del	RYR2	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 3247723	NC_000001.10:g.(?_237674968)_(237675111_?)del	RYR2	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247717	NC_000001.10:g.(?_236849974)_(237205889_?)dup	ACTN2, MT1HL1 +2 more	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 3245994	NC_000006.11:g.(?_123836792)_(123837316_?)del	TRDN	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely pathogenic
Select item 3245993	NC_000006.11:g.(?_123653004)_(123658834_?)del	TRDN	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3245992	NC_000006.11:g.(?_123892048)_(123957920_?)del	TRDN	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 3245991	NC_000006.11:g.(?_123759188)_(123957920_?)del	TRDN	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 3245990	NC_000006.11:g.(?_123957879)_(123957920_?)del	TRDN	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 3235166	NM_001035.3(RYR2):c.14756+1G>A	RYR2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3235084	NM_001035.3(RYR2):c.11170C>T (p.Leu3724Phe)	RYR2 (L3724F)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +1 more	GUncertain significance
Select item 3066164	NM_001035.3(RYR2):c.11776G>A (p.Gly3926Ser)	RYR2 (G3926S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3061901	NM_001035.3(RYR2):c.2941A>C (p.Met981Leu)	RYR2 (M981L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3061854	NM_001035.3(RYR2):c.12122G>T (p.Gly4041Val)	RYR2 (G4041V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3023273	NM_001035.3(RYR2):c.14778A>C (p.Ile4926=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3022753	NM_006073.4(TRDN):c.87A>T (p.Gly29=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3022734	NM_001035.3(RYR2):c.9590T>C (p.Leu3197Ser)	RYR2 (L3197S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3022708	NM_001232.4(CASQ2):c.234+18A>G	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3022291	NM_001035.3(RYR2):c.14464C>T (p.Arg4822Cys)	RYR2 (R4822C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3021953	NM_001035.3(RYR2):c.5203A>G (p.Ser1735Gly)	RYR2 (S1735G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3021071	NM_001035.3(RYR2):c.8436+17G>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3021050	NM_001035.3(RYR2):c.9375T>C (p.Asp3125=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3019692	NM_001035.3(RYR2):c.384+14T>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3019548	NM_001035.3(RYR2):c.11091+5A>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3019538	NM_001035.3(RYR2):c.2718+5G>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3019495	NM_001232.4(CASQ2):c.940-7G>T	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3019374	NM_001232.4(CASQ2):c.607-11_607-2del	CASQ2	Deletion (splice acceptor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely pathogenic
Select item 3019255	NM_001035.3(RYR2):c.11403-17T>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3018547	NM_001035.3(RYR2):c.3394G>C (p.Glu1132Gln)	RYR2 (E1132Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3018504	NM_001035.3(RYR2):c.5899T>C (p.Ser1967Pro)	RYR2 (S1967P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3018411	NM_001035.3(RYR2):c.4746C>T (p.Cys1582=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3018345	NM_001035.3(RYR2):c.84C>G (p.Ile28Met)	RYR2 (I28M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3018332	NM_006073.4(TRDN):c.2051-13C>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3017567	NM_001035.3(RYR2):c.8298+17del	RYR2	Deletion (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3017310	NM_001035.3(RYR2):c.8522C>A (p.Ala2841Glu)	RYR2 (A2841E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GUncertain significance
Select item 3017137	NM_001232.4(CASQ2):c.607-7G>T	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3016800	NM_001035.3(RYR2):c.9848T>C (p.Ile3283Thr)	RYR2 (I3283T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3016754	NM_001035.3(RYR2):c.48+2T>C	RYR2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3016475	NM_001035.3(RYR2):c.2781G>A (p.Gln927=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3016345	NM_001035.3(RYR2):c.8819T>C (p.Ile2940Thr)	RYR2 (I2940T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3016160	NM_001035.3(RYR2):c.13092C>T (p.Thr4364=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3015868	NM_001035.3(RYR2):c.14809-14C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3015767	NM_001035.3(RYR2):c.13657A>G (p.Arg4553Gly)	RYR2 (R4553G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3015278	NM_006073.4(TRDN):c.1739-17T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3015208	NM_001035.3(RYR2):c.9732C>T (p.Ser3244=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3015152	NM_001035.3(RYR2):c.7115+19C>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3015086	NM_001035.3(RYR2):c.5668A>G (p.Lys1890Glu)	RYR2 (K1890E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3015066	NM_001035.3(RYR2):c.1171-18del	RYR2	Deletion (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3014540	NM_001035.3(RYR2):c.11133G>A (p.Val3711=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3014461	NM_001035.3(RYR2):c.5152A>G (p.Arg1718Gly)	RYR2 (R1718G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3014273	NM_001232.4(CASQ2):c.532+17C>T	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3013671	NM_001035.3(RYR2):c.8437-4C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3013567	NM_006073.4(TRDN):c.1739-15G>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3012945	NM_001035.3(RYR2):c.8550T>C (p.Asn2850=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3012825	NM_001035.3(RYR2):c.13031G>A (p.Gly4344Glu)	LOC126806068, RYR2 (G4344E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3012615	NM_001232.4(CASQ2):c.784-11T>C	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3012387	NM_001035.3(RYR2):c.6441-9C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GLikely benign
Select item 3012306	NM_001035.3(RYR2):c.8830+11T>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3011960	NM_001035.3(RYR2):c.6273G>A (p.Gln2091=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3011886	NM_001035.3(RYR2):c.3332G>C (p.Gly1111Ala)	RYR2 (G1111A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3011822	NM_001035.3(RYR2):c.10324-12T>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GLikely benign
Select item 3010862	NM_001035.3(RYR2):c.10505A>G (p.Glu3502Gly)	RYR2 (E3502G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3009776	NM_001232.4(CASQ2):c.33T>C (p.Ile11=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3009671	NM_001035.3(RYR2):c.11558-19A>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3009514	NM_001035.3(RYR2):c.4683+8A>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3009443	NM_006073.4(TRDN):c.1560G>A (p.Glu520=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3009253	NM_001035.3(RYR2):c.2263A>T (p.Ile755Phe)	RYR2 (I755F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3009123	NM_001035.3(RYR2):c.10515A>T (p.Val3505=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3008504	NM_001035.3(RYR2):c.169-19T>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3008488	NM_001035.3(RYR2):c.14591-20G>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3007849	NM_001035.3(RYR2):c.1612+13A>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3007703	NM_001035.3(RYR2):c.9506C>A (p.Ala3169Glu)	RYR2 (A3169E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3006060	NM_001035.3(RYR2):c.4596+18A>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3006059	NM_001035.3(RYR2):c.1634G>A (p.Arg545His)	RYR2 (R545H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3005335	NM_001035.3(RYR2):c.9079A>G (p.Thr3027Ala)	RYR2 (T3027A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3003733	NM_001232.4(CASQ2):c.918C>T (p.Ile306=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3003335	NM_001035.3(RYR2):c.9711C>T (p.Val3237=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3003142	NM_001035.3(RYR2):c.2367T>C (p.Phe789=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 3001932	NM_001232.4(CASQ2):c.940-18A>C	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3001458	NM_001035.3(RYR2):c.12966T>A (p.Ala4322=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 3001158	NM_001035.3(RYR2):c.4252G>C (p.Asp1418His)	RYR2 (D1418H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3001128	NM_001035.3(RYR2):c.6000T>G (p.His2000Gln)	RYR2 (H2000Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3000571	NM_001035.3(RYR2):c.13771T>C (p.Tyr4591His)	RYR2 (Y4591H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance

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