ClinVar for MedGen (Select 78114) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585217	NM_007202.4(AKAP10):c.1467+5C>A	AKAP10	Single nucleotide variant (intron variant)	Conduction disorder of the heart	GUncertain significance
Select item 978369	NM_001148.6(ANK2):c.2735A>G (p.His912Arg)	ANK2 (H121R +24 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 978366	NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn)	RYR2 (I3283N)	Single nucleotide variant (missense variant)	Conduction disorder of the heart	GLikely pathogenic
Select item 978365	NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu)	CASQ2 (K97E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GUncertain significance
Select item 978344	NM_004006.3(DMD):c.1603G>A (p.Val535Ile)	DMD (V412I +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GUncertain significance
Select item 978283	NM_001267550.2(TTN):c.61447_61449del (p.Arg20483del)	TTN, TTN-AS1 (R11418del +5 more)	Deletion (inframe_deletion)	Conduction disorder of the heart	GUncertain significance
Select item 978280	NM_000257.4(MYH7):c.4543C>G (p.Gln1515Glu)	MHRT, MYH7 (Q1515E)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 978276	NM_000719.7(CACNA1C):c.32del (p.Pro11fs)	CACNA1C (P11fs)	Deletion (frameshift variant)	Conduction disorder of the heart	GLikely pathogenic
Select item 978274	NM_001458.5(FLNC):c.5685del (p.Val1896fs)	FLNC, FLNC-AS1 (V1863fs +1 more)	Deletion (frameshift variant +1 more)	Dilated Cardiomyopathy, Dominant +4 more	GPathogenic/Likely pathogenic
Select item 862006	NM_000257.4(MYH7):c.345+1G>A	MYH7	Single nucleotide variant (splice donor variant)	not provided +8 more	GUncertain significance
Select item 684806	NM_001035.3(RYR2):c.243G>A (p.Met81Ile)	RYR2 (M81I)	Single nucleotide variant (missense variant)	Conduction disorder of the heart	GLikely pathogenic
Select item 684804	NM_002471.4(MYH6):c.4060G>A (p.Glu1354Lys)	MYH6 (E1354K)	Single nucleotide variant (missense variant)	Conduction disorder of the heart	GUncertain significance
Select item 684796	NM_001148.6(ANK2):c.9245C>T (p.Thr3082Ile)	ANK2 (T3082I +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 684795	NM_000218.3(KCNQ1):c.74G>C (p.Arg25Pro)	KCNQ1 (R25P)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 684792	NM_000256.3(MYBPC3):c.20A>C (p.Lys7Thr)	MYBPC3 (K7T)	Single nucleotide variant (missense variant)	Conduction disorder of the heart	GUncertain significance
Select item 684784	NM_000335.5(SCN5A):c.5894C>G (p.Ser1965Cys)	SCN5A (S1912C +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 660218	NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr)	LOC126861897, MHRT +1 more (A1586T)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myopathy with fiber type disproportion +8 more	GUncertain significance
Select item 632865	NM_002230.4(JUP):c.412G>A (p.Glu138Lys)	JUP (E138K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 518815	NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys)	DMD (E2685K +6 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 457049	NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro)	ANK2, LOC126807137 (T2395P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 418788	NM_004415.4(DSP):c.1054_1059delinsCA (p.Asp352fs)	DSP (D352fs)	Indel (frameshift variant)	Conduction disorder of the heart +1 more	GPathogenic/Likely pathogenic
Select item 404412	NM_000371.4(TTR):c.370C>T (p.Arg124Cys)	TTR (R124C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GUncertain significance
Select item 381692	NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu)	TRPM4 (P1204L +5 more)	Single nucleotide variant (missense variant)	Family history of sudden cardiac death +5 more	GConflicting classifications of pathogenicity
Select item 239179	NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn)	MYH6 (G1826N)	Indel (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 229220	NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr)	RYR2 (A1806T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 229186	NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser)	RBM20 (F510S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 222566	NM_001943.5(DSG2):c.2623A>G (p.Met875Val)	DSG2, DSG2-AS1 (M875V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 191546	NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)	LOC126806068, RYR2 (R4307C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 191483	NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)	RYR2 (M1975V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 178121	NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met)	RYR2 (T2107M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +7 more	GUncertain significance
Select item 161381	NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)	RYR2 (R1013Q)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 67835	NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)	SCN5A (T1303M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 67599	NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp)	ANK2 (V1540D +43 more)	Single nucleotide variant (missense variant)	Familial dilated cardiomyopathy and peripheral neuropathy +7 more	GConflicting classifications of pathogenicity
Select item 67505	NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)	KCNH2 (R148W +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 45392	NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)	ABCC9 (E629D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 45076	NM_001005242.3(PKP2):c.302G>A (p.Arg101His)	PKP2 (R101H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 44980	NM_004415.4(DSP):c.889G>A (p.Asp297Asn)	DSP (D297N)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 42656	NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)	MYBPC3 (P910T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 36604	NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)	MYBPC3 (D770N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 18056	NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)	ANK2 (E1425G +37 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 3131	NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	KCNQ1 (R518* +4 more)	Single nucleotide variant (nonsense)	not specified +8 more	GPathogenic

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Items: 41