ClinVar for MedGen (Select 38841) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 996557	NM_001943.5(DSG2):c.2979G>T (p.Gln993His)	DSG2, DSG2-AS1 (Q993H)	Single nucleotide variant (missense variant)	Sudden cardiac death	GLikely pathogenic
Select item 927801	NM_000218.3(KCNQ1):c.1449C>A (p.Asn483Lys)	KCNQ1, KCNQ1OT1 (N483K +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 492985	NM_000719.7(CACNA1C):c.1582T>G (p.Trp528Gly)	CACNA1C (W528G +1 more)	Single nucleotide variant (missense variant)	Sudden cardiac death +1 more	GUncertain significance
Select item 427951	NM_001035.3(RYR2):c.14650A>G (p.Met4884Val)	RYR2 (M4884V)	Single nucleotide variant (missense variant)	Sudden cardiac death	GUncertain significance
Select item 427950	NM_005477.3(HCN4):c.1928T>G (p.Leu643Arg)	HCN4 (L643R)	Single nucleotide variant (missense variant)	Sudden cardiac death +1 more	GUncertain significance
Select item 418944	NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs)	LOC110121269, SCN5A (E955fs)	Microsatellite (frameshift variant)	Cardiac arrhythmia +4 more	GConflicting classifications of pathogenicity
Select item 393010	NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu)	PKP2 (G23E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 374137	NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)	DSP (S843*)	Single nucleotide variant (nonsense)	Cardiomyopathy +5 more	GPathogenic
Select item 241176	NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter)	TRPM4 (W525* +3 more)	Single nucleotide variant (nonsense +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 222853	NM_017636.4(TRPM4):c.1826C>G (p.Ala609Gly)	TRPM4 (A609G +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 222800	NM_001040151.2(SCN3B):c.587C>G (p.Ser196Cys)	SCN3B (S196C)	Single nucleotide variant (missense variant)	Sudden cardiac death	GUncertain significance
Select item 222752	NM_006393.3(NEBL):c.2616G>T (p.Lys872Asn)	NEBL (K872N)	Single nucleotide variant (missense variant +1 more)	Sudden cardiac death	GUncertain significance
Select item 222744	NM_003803.4(MYOM1):c.3190C>T (p.His1064Tyr)	MYOM1 (H1064Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 222733	NM_000257.4(MYH7):c.3853+1G>A	MYH7	Single nucleotide variant (splice donor variant)	Sudden cardiac death +1 more	GUncertain significance
Select item 222553	NM_130797.4(DPP6):c.674C>T (p.Pro225Leu)	DPP6 (P161L +3 more)	Single nucleotide variant (missense variant +2 more)	Sudden cardiac death	GUncertain significance
Select item 222517	NM_000719.7(CACNA1C):c.5626A>G (p.Lys1876Glu)	CACNA1C, CACNA1C-AS1 (K1876E +13 more)	Single nucleotide variant (missense variant)	Sudden cardiac death	GUncertain significance
Select item 190772	NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)	HCN4 (V759I)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 190632	NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser)	CACNA1C (G329S +1 more)	Single nucleotide variant (missense variant)	Long qt syndrome 8 +6 more	GUncertain significance
Select item 180369	NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys)	GPD1L (E174K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 180273	NM_001148.6(ANK2):c.9173G>A (p.Arg3058His)	ANK2 (R3058H +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 180263	NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly)	AKAP9 (V1790G)	Single nucleotide variant (missense variant)	AKAP9-related condition +6 more	GConflicting classifications of pathogenicity
Select item 67952	NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr)	SCN5A (A1679T +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +5 more	GConflicting classifications of pathogenicity
Select item 67769	NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)	LOC110121269, SCN5A (C982R)	Single nucleotide variant (missense variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 67659	NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val)	SCN5A (L461V)	Single nucleotide variant (missense variant)	not provided +12 more	GBenign/Likely benign
Select item 67395	NM_000238.4(KCNH2):c.239C>T (p.Ala80Val)	KCNH2 (A80V +1 more)	Single nucleotide variant (missense variant)	Sudden cardiac death	Gnot provided
Select item 67223	NM_000238.4(KCNH2):c.160T>C (p.Tyr54His)	KCNH2 (Y54H)	Single nucleotide variant (missense variant)	Prolonged QT interval +2 more	GUncertain significance
Select item 46820	NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)	TTN (R9744C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 43769	NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)	RYR2 (E1127G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 43664	NM_001276345.2(TNNT2):c.720-4G>T	TNNT2	Single nucleotide variant (intron variant)	Sudden cardiac death +7 more	GConflicting classifications of pathogenicity
Select item 39575	m.15923A>G	MT-TT	Single nucleotide variant	Mitochondrial disease +7 more	GConflicting classifications of pathogenicity
Select item 14151	NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)	MYH6 (A1004S)	Single nucleotide variant (missense variant)	Ventricular tachycardia +8 more	GConflicting classifications of pathogenicity
Select item 13637	NM_002667.5(PLN):c.116T>G (p.Leu39Ter)	CEP85L, PLN (L39*)	Single nucleotide variant (nonsense +1 more)	Intrinsic cardiomyopathy +7 more	GPathogenic/Likely pathogenic

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Items: 32