ClinVar for Gene (Select 6262) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238788	NM_001035.3(RYR2):c.14755T>G (p.Leu4919Val)	RYR2 (L4919V)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	GUncertain significance
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 3233688	NM_001035.3(RYR2):c.2126G>C (p.Gly709Ala)	RYR2 (G709A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3232419	NM_001035.3(RYR2):c.9591G>A (p.Leu3197=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232418	NM_001035.3(RYR2):c.9504A>G (p.Val3168=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232416	NM_001035.3(RYR2):c.9368-2A>C	RYR2	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232415	NM_001035.3(RYR2):c.8846G>A (p.Gly2949Asp)	RYR2 (G2949D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232414	NM_001035.3(RYR2):c.8557G>T (p.Ala2853Ser)	RYR2 (A2853S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232413	NM_001035.3(RYR2):c.8515-5T>G	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232412	NM_001035.3(RYR2):c.8113C>A (p.Pro2705Thr)	RYR2 (P2705T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232411	NM_001035.3(RYR2):c.8004C>G (p.Cys2668Trp)	RYR2 (C2668W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232410	NM_001035.3(RYR2):c.7721T>C (p.Leu2574Pro)	RYR2 (L2574P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232409	NM_001035.3(RYR2):c.7373C>G (p.Ala2458Gly)	RYR2 (A2458G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232408	NM_001035.3(RYR2):c.7101A>G (p.Gly2367=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232407	NM_001035.3(RYR2):c.6441-4C>G	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232406	NM_001035.3(RYR2):c.6162G>T (p.Lys2054Asn)	RYR2 (K2054N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232405	NM_001035.3(RYR2):c.5991G>A (p.Leu1997=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232404	NM_001035.3(RYR2):c.540C>T (p.Asp180=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232402	NM_001035.3(RYR2):c.5154G>T (p.Arg1718Ser)	RYR2 (R1718S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232401	NM_001035.3(RYR2):c.5103C>T (p.Gly1701=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232400	NM_001035.3(RYR2):c.442G>A (p.Gly148Ser)	RYR2 (G148S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232399	NM_001035.3(RYR2):c.4233T>A (p.Ala1411=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232398	NM_001035.3(RYR2):c.4170T>A (p.Leu1390=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232397	NM_001035.3(RYR2):c.4118A>G (p.His1373Arg)	LOC126806067, RYR2 (H1373R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232396	NM_001035.3(RYR2):c.4073G>C (p.Arg1358Pro)	LOC126806067, RYR2 (R1358P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232395	NM_001035.3(RYR2):c.3786A>G (p.Pro1262=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232394	NM_001035.3(RYR2):c.3683C>A (p.Thr1228Asn)	RYR2 (T1228N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232392	NM_001035.3(RYR2):c.3305_3323del (p.Tyr1102fs)	RYR2 (Y1102fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232391	NM_001035.3(RYR2):c.3285A>C (p.Ala1095=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232390	NM_001035.3(RYR2):c.3134C>A (p.Ser1045Tyr)	RYR2 (S1045Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232389	NM_001035.3(RYR2):c.14700A>G (p.Thr4900=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232388	NM_001035.3(RYR2):c.14448C>T (p.His4816=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232387	NM_001035.3(RYR2):c.14339T>C (p.Leu4780Pro)	RYR2 (L4780P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232386	NM_001035.3(RYR2):c.13949A>C (p.Lys4650Thr)	RYR2 (K4650T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232385	NM_001035.3(RYR2):c.13948A>G (p.Lys4650Glu)	RYR2 (K4650E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232384	NM_001035.3(RYR2):c.13454T>C (p.Ile4485Thr)	RYR2 (I4485T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232383	NM_001035.3(RYR2):c.13121A>G (p.Asp4374Gly)	LOC126806068, RYR2 (D4374G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232382	NM_001035.3(RYR2):c.1295G>A (p.Gly432Asp)	RYR2 (G432D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232381	NM_001035.3(RYR2):c.12332A>G (p.Asn4111Ser)	RYR2 (N4111S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232380	NM_001035.3(RYR2):c.12297C>G (p.Ala4099=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232379	NM_001035.3(RYR2):c.12237C>T (p.Asp4079=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232378	NM_001035.3(RYR2):c.12200T>C (p.Leu4067Ser)	RYR2 (L4067S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232377	NM_001035.3(RYR2):c.11955G>A (p.Met3985Ile)	RYR2 (M3985I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232376	NM_001035.3(RYR2):c.11193C>T (p.Leu3731=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232374	NM_001035.3(RYR2):c.10466T>C (p.Ile3489Thr)	RYR2 (I3489T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232373	NM_001035.3(RYR2):c.10419A>G (p.Leu3473=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3075655	NM_001035.3(RYR2):c.2115del (p.Tyr706fs)	RYR2 (Y706fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075637	NM_001035.3(RYR2):c.1644_1645del (p.Ala549fs)	RYR2 (A549fs)	Microsatellite (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075626	NM_001035.3(RYR2):c.802_803insAA (p.Ser268Ter)	RYR2 (S268*)	Insertion (nonsense)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075624	NM_001035.3(RYR2):c.792_802del (p.Gly265fs)	RYR2 (G265fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075494	NM_001035.3(RYR2):c.7744C>A (p.Pro2582Thr)	RYR2 (P2582T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075477	NM_001035.3(RYR2):c.7722C>G (p.Leu2574=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely benign
Select item 3075473	NM_001035.3(RYR2):c.9193G>A (p.Ala3065Thr)	RYR2 (A3065T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075466	NM_001035.3(RYR2):c.12127A>G (p.Ile4043Val)	RYR2 (I4043V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075461	NM_001035.3(RYR2):c.10400T>C (p.Val3467Ala)	RYR2 (V3467A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075448	NM_001035.3(RYR2):c.5356A>G (p.Ile1786Val)	RYR2 (I1786V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075447	NM_001035.3(RYR2):c.14560G>A (p.Val4854Ile)	RYR2 (V4854I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075444	NM_001035.3(RYR2):c.2204-6C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely benign
Select item 3075440	NM_001035.3(RYR2):c.5715+1G>A	RYR2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075438	NM_001035.3(RYR2):c.7497T>A (p.Ala2499=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely benign
Select item 3075434	NM_001035.3(RYR2):c.9184G>A (p.Asp3062Asn)	RYR2 (D3062N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075426	NM_001035.3(RYR2):c.10786A>C (p.Lys3596Gln)	RYR2 (K3596Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075388	NM_001035.3(RYR2):c.1481T>C (p.Met494Thr)	RYR2 (M494T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075373	NM_001035.3(RYR2):c.4184C>G (p.Pro1395Arg)	RYR2 (P1395R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075353	NM_001035.3(RYR2):c.7107T>G (p.Ser2369Arg)	RYR2 (S2369R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075350	NM_001035.3(RYR2):c.14590+1G>A	RYR2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075348	NM_001035.3(RYR2):c.11009T>C (p.Leu3670Pro)	RYR2 (L3670P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075344	NM_001035.3(RYR2):c.14688T>A (p.Asp4896Glu)	RYR2 (D4896E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075323	NM_001035.3(RYR2):c.1669T>A (p.Trp557Arg)	RYR2 (W557R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075321	NM_001035.3(RYR2):c.1120T>C (p.Tyr374His)	RYR2 (Y374H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075286	NM_001035.3(RYR2):c.7500T>C (p.Ala2500=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely benign
Select item 3075282	NM_001035.3(RYR2):c.10542T>G (p.His3514Gln)	RYR2 (H3514Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075274	NM_001035.3(RYR2):c.4795A>C (p.Met1599Leu)	RYR2 (M1599L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075254	NM_001035.3(RYR2):c.1291A>G (p.Arg431Gly)	RYR2 (R431G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075245	NM_001035.3(RYR2):c.2296A>G (p.Ile766Val)	RYR2 (I766V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075215	NM_001035.3(RYR2):c.5253C>G (p.Ile1751Met)	RYR2 (I1751M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075211	NM_001035.3(RYR2):c.3244G>T (p.Gly1082Trp)	RYR2 (G1082W)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075187	NM_001035.3(RYR2):c.2792A>C (p.Tyr931Ser)	RYR2 (Y931S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075158	NM_001035.3(RYR2):c.4933A>T (p.Thr1645Ser)	RYR2 (T1645S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075152	NM_001035.3(RYR2):c.5666C>G (p.Pro1889Arg)	RYR2 (P1889R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075132	NM_001035.3(RYR2):c.11479G>A (p.Glu3827Lys)	RYR2 (E3827K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075117	NM_001035.3(RYR2):c.6977G>A (p.Arg2326Gln)	RYR2 (R2326Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075105	NM_001035.3(RYR2):c.2222T>C (p.Val741Ala)	RYR2 (V741A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075096	NM_001035.3(RYR2):c.4839A>G (p.Glu1613=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely benign
Select item 3075093	NM_001035.3(RYR2):c.3163C>G (p.Arg1055Gly)	RYR2 (R1055G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075091	NM_001035.3(RYR2):c.6409G>A (p.Glu2137Lys)	RYR2 (E2137K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075082	NM_001035.3(RYR2):c.9989C>A (p.Ala3330Glu)	RYR2 (A3330E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075081	NM_001035.3(RYR2):c.12230C>A (p.Thr4077Asn)	RYR2 (T4077N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075046	NM_001035.3(RYR2):c.7780T>C (p.Phe2594Leu)	RYR2 (F2594L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075031	NM_001035.3(RYR2):c.2357G>T (p.Gly786Val)	RYR2 (G786V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075001	NM_001035.3(RYR2):c.12347A>G (p.Gln4116Arg)	RYR2 (Q4116R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3074990	NM_001035.3(RYR2):c.42G>A (p.Leu14=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely benign
Select item 3074988	NM_001035.3(RYR2):c.3084A>G (p.Arg1028=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely benign
Select item 3074981	NM_001035.3(RYR2):c.11246-12T>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely benign
Select item 3074951	NM_001035.3(RYR2):c.4217C>T (p.Thr1406Ile)	RYR2 (T1406I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3074925	NM_001035.3(RYR2):c.11535A>G (p.Leu3845=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely benign
Select item 3074923	NM_001035.3(RYR2):c.7504T>C (p.Leu2502=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely benign
Select item 3074920	NM_001035.3(RYR2):c.4887del (p.Leu1630fs)	RYR2 (L1630fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3074913	NM_001035.3(RYR2):c.10167C>T (p.Asn3389=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely benign

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