ClinVar for MedGen (Select 83310) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1009997	NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr)	LOC126806068, RYR2 (A4142T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GPathogenic/Likely pathogenic
Select item 345129	NM_000335.5(SCN5A):c.687T>C (p.Thr229=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Progressive familial heart block +9 more	GConflicting classifications of pathogenicity
Select item 345126	NM_000335.5(SCN5A):c.1870C>A (p.Leu624Ile)	SCN5A (L624I)	Single nucleotide variant (missense variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345123	NM_000335.5(SCN5A):c.2259C>T (p.Asn753=)	SCN5A	Single nucleotide variant (synonymous variant)	Progressive familial heart block +9 more	GConflicting classifications of pathogenicity
Select item 345122	NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe)	LOC110121269, SCN5A (L939F)	Single nucleotide variant (missense variant)	Paroxysmal familial ventricular fibrillation +14 more	GUncertain significance
Select item 345121	NM_000335.5(SCN5A):c.2988C>T (p.Ala996=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Progressive familial heart block +8 more	GConflicting classifications of pathogenicity
Select item 345120	NM_000335.5(SCN5A):c.3228+6C>G	LOC110121269, SCN5A	Single nucleotide variant (intron variant)	Progressive familial heart block +8 more	GConflicting classifications of pathogenicity
Select item 345119	NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Progressive familial heart block +10 more	GConflicting classifications of pathogenicity
Select item 345113	NM_000335.5(SCN5A):c.5942G>T (p.Arg1981Ile)	SCN5A (R1981I +5 more)	Single nucleotide variant (missense variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345111	NM_000335.5(SCN5A):c.6030C>A (p.Asp2010Glu)	SCN5A (D2011E +5 more)	Single nucleotide variant (missense variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345110	NM_000335.5(SCN5A):c.*6G>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345109	NM_000335.5(SCN5A):c.*73C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345103	NM_000335.5(SCN5A):c.*296G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345099	NM_000335.5(SCN5A):c.*516G>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345098	NM_000335.5(SCN5A):c.*634C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345094	NM_000335.5(SCN5A):c.*725C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345089	NM_000335.5(SCN5A):c.*945C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345086	NM_000335.5(SCN5A):c.*980C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345078	NM_000335.5(SCN5A):c.*1443C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345077	NM_000335.5(SCN5A):c.*1453dup	SCN5A	Duplication (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +7 more	GBenign/Likely benign
Select item 345073	NM_000335.5(SCN5A):c.*1602G>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345072	NM_000335.5(SCN5A):c.*1673C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345071	NM_000335.5(SCN5A):c.*1691G>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345070	NM_000335.5(SCN5A):c.*1701G>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345069	NM_000335.5(SCN5A):c.*1705C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345068	NM_000335.5(SCN5A):c.*1731G>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome +6 more	GUncertain significance
Select item 345067	NM_000335.5(SCN5A):c.*1744C>G	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345066	NM_000335.5(SCN5A):c.*1836A>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345064	NM_000335.5(SCN5A):c.*1943C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345063	NM_000335.5(SCN5A):c.*1969C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome +6 more	GUncertain significance
Select item 345061	NM_000335.5(SCN5A):c.2139_2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1]	SCN5A	Insertion (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GLikely benign
Select item 345060	NM_000335.5(SCN5A):c.*2149G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 222810	NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn)	SCN5A (D1422N +2 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +7 more	GUncertain significance
Select item 217834	NM_170707.4(LMNA):c.80C>G (p.Thr27Ser)	LMNA, LOC129931597 (T27S)	Single nucleotide variant (missense variant)	Paroxysmal familial ventricular fibrillation +1 more	GUncertain significance
Select item 217831	NM_004415.4(DSP):c.7186T>A (p.Tyr2396Asn)	DSP (Y2396N +2 more)	Single nucleotide variant (missense variant)	Paroxysmal familial ventricular fibrillation +2 more	GUncertain significance
Select item 180585	NM_014000.3(VCL):c.2050A>G (p.Arg684Gly)	VCL (R684G)	Single nucleotide variant (missense variant)	Ventricular fibrillation, paroxysmal familial, type 1	GUncertain significance
Select item 180527	NM_003098.3(SNTA1):c.589C>T (p.Arg197Trp)	SNTA1 (R197W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 180512	NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)	SCN5A (R533H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +18 more	GConflicting classifications of pathogenicity
Select item 180506	NM_001035.3(RYR2):c.14635C>A (p.Gln4879Lys)	RYR2 (Q4879K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180483	NM_001134363.3(RBM20):c.3067G>T (p.Asp1023Tyr)	RBM20 (D1023Y)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 180474	NM_001005242.3(PKP2):c.1842A>G (p.Gln614=)	PKP2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 180387	NM_000238.4(KCNH2):c.473-7C>T	KCNH2	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 180376	NM_002230.4(JUP):c.1807G>T (p.Val603Leu)	JUP (V603L)	Single nucleotide variant (missense variant)	JUP-related condition +5 more	GConflicting classifications of pathogenicity
Select item 180339	NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr)	DSP (K2271T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 165156	NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)	SCN5A	Single nucleotide variant (synonymous variant)	Paroxysmal familial ventricular fibrillation +10 more	GConflicting classifications of pathogenicity
Select item 165155	NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)	SCN5A	Single nucleotide variant (synonymous variant)	Paroxysmal familial ventricular fibrillation +10 more	GConflicting classifications of pathogenicity
Select item 163710	NM_002230.4(JUP):c.2069A>G (p.Asn690Ser)	JUP (N690S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 161209	NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)	CACNB2 (A127V +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 155801	NM_020433.5(JPH2):c.723C>G (p.Ser241Arg)	JPH2 (S241R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 155775	NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser)	CACNA1C (G402S)	Single nucleotide variant (missense variant +1 more)	Long qt syndrome 8 +2 more	GPathogenic
Select item 139038	NM_000335.5(SCN5A):c.21T>A (p.Pro7=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +9 more	GConflicting classifications of pathogenicity
Select item 67683	NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)	SCN5A (A572D)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +13 more	GBenign/Likely benign
Select item 48300	NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	SCN5A-related condition +12 more	GConflicting classifications of pathogenicity
Select item 46889	NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup)	TTN	Microsatellite (inframe_insertion +1 more)	Primary dilated cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 43992	NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del)	RBM20	Deletion	not specified +3 more	GConflicting classifications of pathogenicity
Select item 42956	NM_000257.4(MYH7):c.3337-4dup	MYH7	Duplication	Cardiomyopathy	GBenign FDA Recognized database
Select item 36739	NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)	RYR2 (S756N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity

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Items: 57