ClinVar for MedGen (Select 351513) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +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 +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
Select item 2999889	NM_001035.3(RYR2):c.11030C>A (p.Thr3677Lys)	RYR2 (T3677K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2999663	NM_001035.3(RYR2):c.3800A>T (p.His1267Leu)	LOC126806067, RYR2 (H1267L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2999481	NM_001035.3(RYR2):c.6167-13A>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2998615	NM_001035.3(RYR2):c.1408T>G (p.Leu470Val)	RYR2 (L470V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 2998248	NM_006073.4(TRDN):c.1420+17A>G	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2998244	NM_001035.3(RYR2):c.6831C>T (p.Cys2277=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2998210	NM_001035.3(RYR2):c.4910+1G>A	RYR2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2997927	NM_006073.4(TRDN):c.1717dup (p.Thr573fs)	TRDN (T573fs)	Duplication (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2997913	NM_001232.4(CASQ2):c.420+1G>A	CASQ2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely pathogenic
Select item 2997527	NM_001035.3(RYR2):c.295-3C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GConflicting classifications of pathogenicity
Select item 2996539	NM_001035.3(RYR2):c.5451C>G (p.Leu1817=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2996488	NM_001035.3(RYR2):c.13711A>G (p.Thr4571Ala)	RYR2 (T4571A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2996383	NM_001035.3(RYR2):c.10315A>G (p.Met3439Val)	RYR2 (M3439V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2996130	NM_001035.3(RYR2):c.463+13T>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2995438	NM_001232.4(CASQ2):c.1014+16G>A	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2995272	NM_001035.3(RYR2):c.1323G>A (p.Lys441=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2994881	NM_001035.3(RYR2):c.10491C>G (p.Ser3497Arg)	RYR2 (S3497R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2994811	NM_001035.3(RYR2):c.10372C>T (p.Arg3458Trp)	RYR2 (R3458W)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2993852	NM_001035.3(RYR2):c.14055G>C (p.Lys4685Asn)	RYR2 (K4685N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2993436	NM_001035.3(RYR2):c.2958C>T (p.Ile986=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2992384	NM_001035.3(RYR2):c.4781T>C (p.Val1594Ala)	RYR2 (V1594A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2990727	NM_001035.3(RYR2):c.10726-7A>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2989258	NM_001035.3(RYR2):c.14112G>T (p.Lys4704Asn)	RYR2 (K4704N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2989085	NM_001035.3(RYR2):c.6452A>T (p.Asn2151Ile)	RYR2 (N2151I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2988931	NM_001035.3(RYR2):c.11040-19T>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2988756	NM_001035.3(RYR2):c.14198A>G (p.His4733Arg)	RYR2 (H4733R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2988469	NM_001232.4(CASQ2):c.974_983del (p.Asp325fs)	CASQ2 (D325fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 2988370	NM_001035.3(RYR2):c.4714A>G (p.Lys1572Glu)	RYR2 (K1572E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance

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