"GeneDx"[submitter] AND "HCN4"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 265

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1288341	NM_005477.3(HCN4):c.*112AC[3]	HCN4	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1210474	NM_005477.3(HCN4):c.*2C>G	HCN4	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 95285	NM_005477.3(HCN4):c.3600A>G (p.Pro1200=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +4 more	GBenign
Select item 502460	NM_005477.3(HCN4):c.3596T>A (p.Leu1199Gln)	HCN4 (L1199Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 198820	NM_005477.3(HCN4):c.3587G>A (p.Arg1196His)	HCN4 (R1196H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign
Select item 489266	NM_005477.3(HCN4):c.3582A>G (p.Pro1194=)	HCN4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1343014	NM_005477.3(HCN4):c.3581C>T (p.Pro1194Leu)	HCN4 (P1194L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 191449	NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln)	HCN4 (E1193Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1307186	NM_005477.3(HCN4):c.3536dup (p.Leu1180fs)	HCN4 (L1180fs)	Duplication (frameshift variant)	not provided +3 more	GUncertain significance
Select item 382170	NM_005477.3(HCN4):c.3531G>T (p.Gly1177=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 190790	NM_005477.3(HCN4):c.3512G>T (p.Arg1171Ile)	HCN4 (R1171I)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 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)	Brugada syndrome 8 +5 more	GUncertain significance
Select item 404127	NM_005477.3(HCN4):c.3488C>A (p.Pro1163His)	HCN4 (P1163H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 519345	NM_005477.3(HCN4):c.3487C>A (p.Pro1163Thr)	HCN4 (P1163T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 383673	NM_005477.3(HCN4):c.3468A>G (p.Thr1156=)	HCN4	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 191450	NM_005477.3(HCN4):c.3461G>A (p.Arg1154Gln)	HCN4 (R1154Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 234777	NM_005477.3(HCN4):c.3448G>A (p.Val1150Ile)	HCN4 (V1150I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1305548	NM_005477.3(HCN4):c.3433A>G (p.Ile1145Val)	HCN4 (I1145V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518849	NM_005477.3(HCN4):c.3414del (p.Arg1140fs)	HCN4 (R1140fs)	Deletion (frameshift variant)	not provided +2 more	GUncertain significance
Select item 580597	NM_005477.3(HCN4):c.3409C>T (p.Pro1137Ser)	HCN4 (P1137S)	Single nucleotide variant (missense variant)	not provided +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 519231	NM_005477.3(HCN4):c.3396C>T (p.Ser1132=)	HCN4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 518776	NM_005477.3(HCN4):c.3382G>A (p.Gly1128Ser)	HCN4 (G1128S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 470667	NM_005477.3(HCN4):c.3379G>A (p.Gly1127Arg)	HCN4 (G1127R)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +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 1226847	NM_005477.3(HCN4):c.3378C>T (p.Ser1126=)	HCN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 538098	NM_005477.3(HCN4):c.3351G>A (p.Pro1117=)	HCN4	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 198826	NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu)	HCN4 (P1117L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 137543	NM_005477.3(HCN4):c.3337A>G (p.Met1113Val)	HCN4 (M1113V)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 18 +6 more	GBenign/Likely benign
Select item 384049	NM_005477.3(HCN4):c.3327A>G (p.Ser1109=)	HCN4	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 425072	NM_005477.3(HCN4):c.3293C>T (p.Ala1098Val)	HCN4 (A1098V)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +4 more	GUncertain significance
Select item 167169	NM_005477.3(HCN4):c.3288C>T (p.Asp1096=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +4 more	GBenign
Select item 512725	NM_005477.3(HCN4):c.3276C>T (p.Ala1092=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +1 more	GLikely benign
Select item 506558	NM_005477.3(HCN4):c.3264G>A (p.Ala1088=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +2 more	GLikely benign
Select item 1311921	NM_005477.3(HCN4):c.3251A>T (p.Lys1084Met)	HCN4 (K1084M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 638953	NM_005477.3(HCN4):c.3232C>T (p.Arg1078Cys)	HCN4 (R1078C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 240169	NM_005477.3(HCN4):c.3228C>T (p.Pro1076=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 538077	NM_005477.3(HCN4):c.3218C>T (p.Pro1073Leu)	HCN4 (P1073L)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +3 more	GUncertain significance
Select item 698053	NM_005477.3(HCN4):c.3195C>A (p.Val1065=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 404116	NM_005477.3(HCN4):c.3187C>A (p.Pro1063Thr)	HCN4 (P1063T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 424082	NM_005477.3(HCN4):c.3172T>G (p.Ser1058Ala)	HCN4 (S1058A)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +4 more	GUncertain significance
Select item 385958	NM_005477.3(HCN4):c.3171A>C (p.Ala1057=)	HCN4	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 382812	NM_005477.3(HCN4):c.3126G>A (p.Pro1042=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 412793	NM_005477.3(HCN4):c.3117G>A (p.Pro1039=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +2 more	GConflicting classifications of pathogenicity
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 384029	NM_005477.3(HCN4):c.3078C>T (p.Ser1026=)	HCN4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 190776	NM_005477.3(HCN4):c.3033T>G (p.Ser1011=)	HCN4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 392319	NM_005477.3(HCN4):c.3031T>C (p.Ser1011Pro)	HCN4 (S1011P)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +4 more	GUncertain significance
Select item 582329	NM_005477.3(HCN4):c.3028G>T (p.Ala1010Ser)	HCN4 (A1010S)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +4 more	GUncertain significance
Select item 470662	NM_005477.3(HCN4):c.3012G>A (p.Pro1004=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 291134	NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser)	HCN4 (P1004S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 412783	NM_005477.3(HCN4):c.3009G>A (p.Pro1003=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 575202	NM_005477.3(HCN4):c.2995C>T (p.Arg999Trp)	HCN4 (R999W)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +4 more	GUncertain significance
Select item 198827	NM_005477.3(HCN4):c.2979G>A (p.Thr993=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +3 more	GBenign
Select item 538076	NM_005477.3(HCN4):c.2978C>T (p.Thr993Met)	HCN4 (T993M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 385792	NM_005477.3(HCN4):c.2946G>A (p.Leu982=)	HCN4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 570199	NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg)	HCN4 (G973R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 513559	NM_005477.3(HCN4):c.2904G>A (p.Pro968=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 392636	NM_005477.3(HCN4):c.2903C>T (p.Pro968Leu)	HCN4 (P968L)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 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 970242	NM_005477.3(HCN4):c.2878CCACCC[1] (p.Pro962_Pro963del)	HCN4	Microsatellite (inframe_deletion)	Brugada syndrome 8 +3 more	GUncertain significance
Select item 391911	NM_005477.3(HCN4):c.2875C>G (p.Leu959Val)	HCN4 (L959V)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 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 518719	NM_005477.3(HCN4):c.2839G>A (p.Gly947Arg)	HCN4 (G947R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 388491	NM_005477.3(HCN4):c.2838C>T (p.Pro946=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1132158	NM_005477.3(HCN4):c.2832G>A (p.Ala944=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +2 more	GLikely benign
Select item 190775	NM_005477.3(HCN4):c.2831C>T (p.Ala944Val)	HCN4 (A944V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 538102	NM_005477.3(HCN4):c.2830G>A (p.Ala944Thr)	HCN4 (A944T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 470659	NM_005477.3(HCN4):c.2804C>A (p.Ser935Tyr)	HCN4 (S935Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 190784	NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe)	HCN4 (S935F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 198819	NM_005477.3(HCN4):c.2801G>A (p.Arg934His)	HCN4 (R934H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 190774	NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys)	HCN4 (R934C)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 518131	NM_005477.3(HCN4):c.2745T>A (p.Gly915=)	HCN4	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 167170	NM_005477.3(HCN4):c.2739G>A (p.Ala913=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 264440	NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu)	HCN4 (F910L)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 404123	NM_005477.3(HCN4):c.2716G>A (p.Gly906Arg)	HCN4 (G906R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 404120	NM_005477.3(HCN4):c.2701G>A (p.Ala901Thr)	HCN4 (A901T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 264375	NM_005477.3(HCN4):c.2700C>A (p.Ala900=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +3 more	GBenign/Likely benign
Select item 470657	NM_005477.3(HCN4):c.2695G>A (p.Val899Ile)	HCN4 (V899I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 386636	NM_005477.3(HCN4):c.2694C>T (p.Gly898=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 221020	NM_005477.3(HCN4):c.2673G>A (p.Ser891=)	HCN4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 538081	NM_005477.3(HCN4):c.2669C>T (p.Pro890Leu)	HCN4 (P890L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 702282	NM_005477.3(HCN4):c.2668C>T (p.Pro890Ser)	HCN4 (P890S)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GLikely benign
Select item 190773	NM_005477.3(HCN4):c.2657C>T (p.Ala886Val)	HCN4 (A886V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 137542	NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)	HCN4 (P883R)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
Select item 383154	NM_005477.3(HCN4):c.2637C>T (p.Ser879=)	HCN4	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 636407	NM_005477.3(HCN4):c.2605G>A (p.Ala869Thr)	HCN4 (A869T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 538100	NM_005477.3(HCN4):c.2604C>T (p.Pro868=)	HCN4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 198821	NM_005477.3(HCN4):c.2601C>A (p.Ala867=)	HCN4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 426330	NM_005477.3(HCN4):c.2587G>A (p.Ala863Thr)	HCN4 (A863T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95284	NM_005477.3(HCN4):c.2556G>A (p.Pro852=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +4 more	GBenign
Select item 432844	NM_005477.3(HCN4):c.2551A>G (p.Thr851Ala)	HCN4 (T851A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 190783	NM_005477.3(HCN4):c.2527G>A (p.Ala843Thr)	HCN4 (A843T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 510694	NM_005477.3(HCN4):c.2526C>T (p.Pro842=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 388739	NM_005477.3(HCN4):c.2508G>A (p.Ala836=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 389291	NM_005477.3(HCN4):c.2465C>T (p.Thr822Met)	HCN4 (T822M)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign

<< First< Prev

Page of 3