ClinVar for MedGen (Select 320273) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362472	NM_005477.3(HCN4):c.1760G>C (p.Arg587Pro)	HCN4 (R587P)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 3238948	NM_005477.3(HCN4):c.155del (p.Pro52fs)	HCN4 (P52fs)	Deletion (frameshift variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 2665043	NM_005477.3(HCN4):c.3392G>A (p.Ser1131Asn)	HCN4 (S1131N)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +1 more	GUncertain significance
Select item 2154293	NM_005477.3(HCN4):c.3488C>T (p.Pro1163Leu)	HCN4 (P1163L)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +1 more	GUncertain significance
Select item 2064810	NM_005477.3(HCN4):c.2504C>T (p.Ser835Phe)	HCN4 (S835F)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +1 more	GUncertain significance
Select item 1696495	NM_005477.3(HCN4):c.1385G>A (p.Gly462Glu)	HCN4 (G462E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1524585	NM_005477.3(HCN4):c.2846G>C (p.Arg949Pro)	HCN4 (R949P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1514095	NM_005477.3(HCN4):c.3531del (p.Pro1179fs)	HCN4 (P1179fs)	Deletion (frameshift variant)	Sick sinus syndrome 2, autosomal dominant +2 more	GUncertain significance
Select item 1513426	NM_005477.3(HCN4):c.1026C>G (p.Phe342Leu)	LOC105370890, LOC126862173 +1 more (F342L)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 18 +3 more	GUncertain significance
Select item 1439276	NM_005477.3(HCN4):c.358G>A (p.Gly120Arg)	HCN4 (G120R)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +2 more	GUncertain significance
Select item 1431151	NM_005477.3(HCN4):c.2422C>T (p.Pro808Ser)	HCN4 (P808S)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 1421283	NM_005477.3(HCN4):c.3014C>G (p.Ser1005Cys)	HCN4 (S1005C)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 1419907	NM_005477.3(HCN4):c.1871G>A (p.Arg624Gln)	HCN4 (R624Q)	Single nucleotide variant (missense variant)	HCN4-related disorder +5 more	GUncertain significance
Select item 1413753	NM_005477.3(HCN4):c.3394_3402dup (p.Ser1132_Gly1134dup)	HCN4	Duplication (inframe_insertion)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1399390	NM_005477.3(HCN4):c.1090G>C (p.Asp364His)	HCN4, LOC105370890 +1 more (D364H)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +2 more	GUncertain significance
Select item 1390993	NM_005477.3(HCN4):c.1465A>G (p.Met489Val)	HCN4 (M489V)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1368247	NM_005477.3(HCN4):c.3495_3498del (p.Ser1166fs)	HCN4 (S1166fs)	Deletion (frameshift variant)	Epilepsy, idiopathic generalized, susceptibility to, 18 +2 more	GUncertain significance
Select item 1349438	NM_005477.3(HCN4):c.2495T>C (p.Leu832Pro)	HCN4 (L832P)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +3 more	GUncertain significance
Select item 1348490	NM_005477.3(HCN4):c.3206G>A (p.Arg1069Gln)	HCN4 (R1069Q)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +3 more	GUncertain significance
Select item 1326530	NM_005477.3(HCN4):c.2738C>T (p.Ala913Val)	HCN4 (A913V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1310223	NM_005477.3(HCN4):c.3378C>G (p.Ser1126Arg)	HCN4 (S1126R)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +4 more	GUncertain significance
Select item 1307186	NM_005477.3(HCN4):c.3536dup (p.Leu1180fs)	HCN4 (L1180fs)	Duplication (frameshift variant)	not provided +3 more	GUncertain significance
Select item 1284323	NM_005477.3(HCN4):c.1573C>T (p.Arg525Cys)	HCN4 (R525C)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +1 more	GUncertain significance
Select item 1201442	NM_005477.3(HCN4):c.3460C>T (p.Arg1154Trp)	HCN4 (R1154W)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 18 +4 more	GUncertain significance
Select item 1136694	NM_005477.3(HCN4):c.3261C>T (p.Ser1087=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +3 more	GLikely benign
Select item 1063391	NM_005477.3(HCN4):c.2309C>T (p.Thr770Met)	HCN4 (T770M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1058436	NM_005477.3(HCN4):c.3202C>T (p.Arg1068Cys)	HCN4 (R1068C)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +3 more	GUncertain significance
Select item 1055413	NM_005477.3(HCN4):c.2902C>T (p.Pro968Ser)	HCN4 (P968S)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +3 more	GUncertain significance
Select item 1054163	NM_005477.3(HCN4):c.2969C>G (p.Pro990Arg)	HCN4 (P990R)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +4 more	GUncertain significance
Select item 1041121	NM_005477.3(HCN4):c.3242A>G (p.Gln1081Arg)	HCN4 (Q1081R)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +3 more	GUncertain significance
Select item 1020717	NM_005477.3(HCN4):c.1447C>T (p.Arg483Trp)	HCN4 (R483W)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +3 more	GUncertain significance
Select item 1017092	NM_005477.3(HCN4):c.1209+4A>G	HCN4, LOC105370890	Single nucleotide variant (intron variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 1007466	NM_005477.3(HCN4):c.1987C>A (p.Leu663Met)	HCN4 (L663M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 998936	NM_005477.3(HCN4):c.1796C>T (p.Ala599Val)	HCN4 (A599V)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +2 more	GUncertain significance
Select item 970242	NM_005477.3(HCN4):c.2878CCACCC[1] (p.Pro962_Pro963del)	HCN4	Microsatellite (inframe_deletion)	Brugada syndrome 8 +3 more	GUncertain significance
Select item 969148	NM_005477.3(HCN4):c.483_500dup (p.Ala162_Pro167dup)	HCN4	Duplication (inframe_insertion)	Brugada syndrome 8 +4 more	GUncertain significance
Select item 969135	NM_005477.3(HCN4):c.2833C>T (p.Pro945Ser)	HCN4 (P945S)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +3 more	GUncertain significance
Select item 951977	NM_005477.3(HCN4):c.2807C>T (p.Pro936Leu)	HCN4 (P936L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 950256	NM_005477.3(HCN4):c.1115G>A (p.Arg372Gln)	HCN4, LOC105370890 +1 more (R372Q)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 935983	NM_005477.3(HCN4):c.3100C>T (p.Pro1034Ser)	HCN4 (P1034S)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +5 more	GUncertain significance
Select item 887960	NM_005477.3(HCN4):c.-585C>A	HCN4	Single nucleotide variant (5 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant +1 more	GBenign
Select item 887959	NM_005477.3(HCN4):c.-547G>C	HCN4	Single nucleotide variant (5 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 887958	NM_005477.3(HCN4):c.-529G>A	HCN4	Single nucleotide variant (5 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant +2 more	GUncertain significance
Select item 887957	NM_005477.3(HCN4):c.-518A>G	HCN4	Single nucleotide variant (5 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 887901	NM_005477.3(HCN4):c.1844T>G (p.Val615Gly)	HCN4 (V615G)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 887900	NM_005477.3(HCN4):c.2143+8G>A	HCN4	Single nucleotide variant (intron variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 887899	NM_005477.3(HCN4):c.2175C>G (p.Val725=)	HCN4	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 887898	NM_005477.3(HCN4):c.2314G>A (p.Val772Ile)	HCN4 (V772I)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 887848	NM_005477.3(HCN4):c.*844G>A	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 887847	NM_005477.3(HCN4):c.*847A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 887846	NM_005477.3(HCN4):c.*901C>T	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 887845	NM_005477.3(HCN4):c.*980C>T	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 887844	NM_005477.3(HCN4):c.*1085A>C	HCN4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887843	NM_005477.3(HCN4):c.*1140G>A	HCN4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 887842	NM_005477.3(HCN4):c.*1172A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 887841	NM_005477.3(HCN4):c.*1197T>C	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 886708	NM_005477.3(HCN4):c.-497G>A	HCN4	Single nucleotide variant (5 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 886707	NM_005477.3(HCN4):c.-364C>G	HCN4	Single nucleotide variant (5 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 886706	NM_005477.3(HCN4):c.-188G>T	HCN4	Single nucleotide variant (5 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 886705	NM_005477.3(HCN4):c.-132G>C	HCN4	Single nucleotide variant (5 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant +1 more	GUncertain significance
Select item 886704	NM_005477.3(HCN4):c.-114G>A	HCN4	Single nucleotide variant (5 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 886650	NM_005477.3(HCN4):c.3081C>T (p.Pro1027=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 886596	NM_005477.3(HCN4):c.*1205A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 886595	NM_005477.3(HCN4):c.*1482A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant +1 more	GBenign
Select item 886594	NM_005477.3(HCN4):c.*1490A>C	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant +1 more	GBenign
Select item 886593	NM_005477.3(HCN4):c.*1598A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant +2 more	GUncertain significance
Select item 886592	NM_005477.3(HCN4):c.*1659A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 886591	NM_005477.3(HCN4):c.*1834G>T	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 886590	NM_005477.3(HCN4):c.*1989G>A	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant +1 more	GBenign
Select item 886589	NM_005477.3(HCN4):c.*2010A>C	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 885698	NM_005477.3(HCN4):c.319G>A (p.Gly107Ser)	HCN4 (G107S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 885697	NM_005477.3(HCN4):c.375C>T (p.Ser125=)	HCN4	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 2, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 885696	NM_005477.3(HCN4):c.522G>A (p.Pro174=)	HCN4	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 885695	NM_005477.3(HCN4):c.577G>T (p.Gly193Cys)	HCN4 (G193C)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 885635	NM_005477.3(HCN4):c.*44C>T	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 885569	NM_005477.3(HCN4):c.*2241T>C	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 885568	NM_005477.3(HCN4):c.*2354A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 885567	NM_005477.3(HCN4):c.*2393C>G	HCN4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 885566	NM_005477.3(HCN4):c.*2445C>T	HCN4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 885565	NM_005477.3(HCN4):c.*2581C>T	HCN4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 885564	NM_005477.3(HCN4):c.*2585G>A	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 884694	NM_005477.3(HCN4):c.*104A>T	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 884693	NM_005477.3(HCN4):c.*127A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 884692	NM_005477.3(HCN4):c.*168A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 884691	NM_005477.3(HCN4):c.*414C>A	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant +1 more	GBenign
Select item 884690	NM_005477.3(HCN4):c.*592G>A	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 884689	NM_005477.3(HCN4):c.*634C>T	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 884688	NM_005477.3(HCN4):c.*708A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant +1 more	GBenign
Select item 884687	NM_005477.3(HCN4):c.*767C>T	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 860790	NM_005477.3(HCN4):c.955G>A (p.Val319Met)	HCN4, LOC105370890 +1 more (V319M)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 859517	NM_005477.3(HCN4):c.3397G>C (p.Gly1133Arg)	HCN4 (G1133R)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +4 more	GUncertain significance
Select item 850915	NM_005477.3(HCN4):c.1713C>T (p.Gly571=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 844561	NM_005477.3(HCN4):c.3229G>A (p.Gly1077Ser)	HCN4 (G1077S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 840097	NM_005477.3(HCN4):c.3205C>T (p.Arg1069Trp)	HCN4 (R1069W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 807287	NM_005477.3(HCN4):c.3148G>A (p.Gly1050Arg)	HCN4 (G1050R)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +3 more	GUncertain significance
Select item 701735	NM_005477.3(HCN4):c.2845C>T (p.Arg949Trp)	HCN4 (R949W)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 679603	NM_005477.3(HCN4):c.-189G>A	HCN4	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 663635	NM_005477.3(HCN4):c.3203G>A (p.Arg1068His)	HCN4 (R1068H)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 660308	NM_005477.3(HCN4):c.493C>T (p.Pro165Ser)	HCN4 (P165S)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 655088	NM_005477.3(HCN4):c.2398C>T (p.Arg800Cys)	HCN4 (R800C)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +3 more	GUncertain significance

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