"Fulgent Genetics, Fulgent Genetics"[submitter] AND "HCN4"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1307186	NM_005477.3(HCN4):c.3536dup (p.Leu1180fs)	HCN4 (L1180fs)	Duplication (frameshift variant)	Brugada syndrome 8 +3 more	GUncertain significance
Select item 1514095	NM_005477.3(HCN4):c.3531del (p.Pro1179fs)	HCN4 (P1179fs)	Deletion (frameshift variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 191377	NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs)	HCN4 (F1168fs)	Microsatellite (frameshift variant)	Brugada syndrome 8 +5 more	GUncertain significance
Select item 190785	NM_005477.3(HCN4):c.3497_3500del (p.Ser1166fs)	HCN4 (S1166fs)	Deletion (frameshift variant)	Sick sinus syndrome 2, autosomal dominant +5 more	GUncertain significance
Select item 1368247	NM_005477.3(HCN4):c.3495_3498del (p.Ser1166fs)	HCN4 (S1166fs)	Deletion (frameshift variant)	Brugada syndrome 8 +2 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 1413753	NM_005477.3(HCN4):c.3394_3402dup (p.Ser1132_Gly1134dup)	HCN4	Duplication (inframe_insertion)	Sick sinus syndrome 2, autosomal dominant +2 more	GUncertain significance
Select item 859517	NM_005477.3(HCN4):c.3397G>C (p.Gly1133Arg)	HCN4 (G1133R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 470667	NM_005477.3(HCN4):c.3379G>A (p.Gly1127Arg)	HCN4 (G1127R)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 18 +4 more	GUncertain significance
Select item 1310223	NM_005477.3(HCN4):c.3378C>G (p.Ser1126Arg)	HCN4 (S1126R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 538098	NM_005477.3(HCN4):c.3351G>A (p.Pro1117=)	HCN4	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 2, autosomal dominant +4 more	GLikely benign
Select item 137543	NM_005477.3(HCN4):c.3337A>G (p.Met1113Val)	HCN4 (M1113V)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +6 more	GBenign/Likely benign
Select item 579697	NM_005477.3(HCN4):c.3305G>A (p.Arg1102His)	HCN4 (R1102H)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 425072	NM_005477.3(HCN4):c.3293C>T (p.Ala1098Val)	HCN4 (A1098V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 470665	NM_005477.3(HCN4):c.3289G>A (p.Gly1097Arg)	HCN4 (G1097R)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 18 +3 more	GUncertain significance
Select item 1136694	NM_005477.3(HCN4):c.3261C>T (p.Ser1087=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1041121	NM_005477.3(HCN4):c.3242A>G (p.Gln1081Arg)	HCN4 (Q1081R)	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)	Sick sinus syndrome 2, autosomal dominant +3 more	GUncertain significance
Select item 663635	NM_005477.3(HCN4):c.3203G>A (p.Arg1068His)	HCN4 (R1068H)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +2 more	GUncertain significance
Select item 1058436	NM_005477.3(HCN4):c.3202C>T (p.Arg1068Cys)	HCN4 (R1068C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 424082	NM_005477.3(HCN4):c.3172T>G (p.Ser1058Ala)	HCN4 (S1058A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 807287	NM_005477.3(HCN4):c.3148G>A (p.Gly1050Arg)	HCN4 (G1050R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 935983	NM_005477.3(HCN4):c.3100C>T (p.Pro1034Ser)	HCN4 (P1034S)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +4 more	GUncertain significance
Select item 470663	NM_005477.3(HCN4):c.3064C>T (p.Arg1022Ter)	HCN4 (R1022*)	Single nucleotide variant (nonsense)	not provided +4 more	GUncertain significance
Select item 392319	NM_005477.3(HCN4):c.3031T>C (p.Ser1011Pro)	HCN4 (S1011P)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 18 +4 more	GUncertain significance
Select item 582329	NM_005477.3(HCN4):c.3028G>T (p.Ala1010Ser)	HCN4 (A1010S)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +4 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 575202	NM_005477.3(HCN4):c.2995C>T (p.Arg999Trp)	HCN4 (R999W)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +4 more	GUncertain significance
Select item 1054163	NM_005477.3(HCN4):c.2969C>G (p.Pro990Arg)	HCN4 (P990R)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +3 more	GUncertain significance
Select item 650000	NM_005477.3(HCN4):c.2939G>C (p.Gly980Ala)	HCN4 (G980A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 570199	NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg)	HCN4 (G973R)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +4 more	GUncertain significance
Select item 519320	NM_005477.3(HCN4):c.2916C>T (p.Pro972=)	HCN4	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 18 +4 more	GLikely benign
Select item 513559	NM_005477.3(HCN4):c.2904G>A (p.Pro968=)	HCN4	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1055413	NM_005477.3(HCN4):c.2902C>T (p.Pro968Ser)	HCN4 (P968S)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 970242	NM_005477.3(HCN4):c.2878CCACCC[1] (p.Pro962_Pro963del)	HCN4	Microsatellite (inframe_deletion)	not provided +3 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 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)	Sick sinus syndrome 2, autosomal dominant +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 404123	NM_005477.3(HCN4):c.2716G>A (p.Gly906Arg)	HCN4 (G906R)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +5 more	GUncertain significance
Select item 289273	NM_005477.3(HCN4):c.2555C>T (p.Pro852Leu)	HCN4 (P852L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1349438	NM_005477.3(HCN4):c.2495T>C (p.Leu832Pro)	HCN4 (L832P)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +3 more	GUncertain significance
Select item 1431151	NM_005477.3(HCN4):c.2422C>T (p.Pro808Ser)	HCN4 (P808S)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +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
Select item 595951	NM_005477.3(HCN4):c.2383C>T (p.Leu795Phe)	HCN4 (L795F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 470655	NM_005477.3(HCN4):c.2326C>A (p.Pro776Thr)	HCN4 (P776T)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 18 +4 more	GUncertain significance
Select item 1063391	NM_005477.3(HCN4):c.2309C>T (p.Thr770Met)	HCN4 (T770M)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 222648	NM_005477.3(HCN4):c.2197G>A (p.Val733Ile)	HCN4 (V733I)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 18 +5 more	GUncertain significance
Select item 1007466	NM_005477.3(HCN4):c.1987C>A (p.Leu663Met)	HCN4 (L663M)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +3 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 998936	NM_005477.3(HCN4):c.1796C>T (p.Ala599Val)	HCN4 (A599V)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 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 1390993	NM_005477.3(HCN4):c.1465A>G (p.Met489Val)	HCN4 (M489V)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 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 391642	NM_005477.3(HCN4):c.1401C>T (p.Tyr467=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 470646	NM_005477.3(HCN4):c.1297G>A (p.Gly433Ser)	HCN4 (G433S)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +3 more	GUncertain significance
Select item 1017092	NM_005477.3(HCN4):c.1209+4A>G	LOC105370890, HCN4	Single nucleotide variant (intron variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 190779	NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys)	HCN4, LOC105370890 +1 more (R378C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
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 1399390	NM_005477.3(HCN4):c.1090G>C (p.Asp364His)	HCN4, LOC105370890 +1 more (D364H)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 519419	NM_005477.3(HCN4):c.1090G>T (p.Asp364Tyr)	HCN4, LOC105370890 +1 more (D364Y)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +3 more	GUncertain significance
Select item 1513426	NM_005477.3(HCN4):c.1026C>G (p.Phe342Leu)	HCN4, LOC105370890 +1 more (F342L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	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 412796	NM_005477.3(HCN4):c.561T>C (p.Ala187=)	HCN4	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 18 +4 more	GLikely benign
Select item 190787	NM_005477.3(HCN4):c.520C>T (p.Pro174Ser)	HCN4 (P174S)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +5 more	GUncertain significance
Select item 969148	NM_005477.3(HCN4):c.483_500dup (p.Ala162_Pro167dup)	HCN4	Duplication (inframe_insertion)	Epilepsy, idiopathic generalized, susceptibility to, 18 +4 more	GUncertain significance
Select item 660308	NM_005477.3(HCN4):c.493C>T (p.Pro165Ser)	HCN4 (P165S)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +2 more	GUncertain significance
Select item 579994	NM_005477.3(HCN4):c.466G>A (p.Gly156Ser)	HCN4 (G156S)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +3 more	GUncertain significance
Select item 190786	NM_005477.3(HCN4):c.418G>A (p.Gly140Ser)	HCN4 (G140S)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +3 more	GUncertain significance
Select item 1439276	NM_005477.3(HCN4):c.358G>A (p.Gly120Arg)	HCN4 (G120R)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 18 +2 more	GUncertain significance
Select item 404122	NM_005477.3(HCN4):c.334G>A (p.Gly112Ser)	HCN4 (G112S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 470647	NM_005477.3(HCN4):c.134G>T (p.Arg45Leu)	HCN4 (R45L)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 18 +2 more	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

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Items: 74