"Illumina Laboratory Services, Illumina"[submitter] AND "HCN4"[gene] - ClinVar

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 885565	NM_005477.3(HCN4):c.*2581C>T	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)	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)	Sick sinus syndrome 2, autosomal dominant	GBenign
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 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 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 886590	NM_005477.3(HCN4):c.*1989G>A	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 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 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 886594	NM_005477.3(HCN4):c.*1490A>C	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 886595	NM_005477.3(HCN4):c.*1482A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
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 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 887842	NM_005477.3(HCN4):c.*1172A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 887843	NM_005477.3(HCN4):c.*1140G>A	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 887844	NM_005477.3(HCN4):c.*1085A>C	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 884688	NM_005477.3(HCN4):c.*708A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
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 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 884691	NM_005477.3(HCN4):c.*414C>A	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 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 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 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 95285	NM_005477.3(HCN4):c.3600A>G (p.Pro1200=)	HCN4	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 2, autosomal dominant +4 more	GBenign
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)	not specified +6 more	GBenign/Likely benign
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 538077	NM_005477.3(HCN4):c.3218C>T (p.Pro1073Leu)	HCN4 (P1073L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 840097	NM_005477.3(HCN4):c.3205C>T (p.Arg1069Trp)	HCN4 (R1069W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 580858	NM_005477.3(HCN4):c.3130C>T (p.Arg1044Trp)	HCN4 (R1044W)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	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 470662	NM_005477.3(HCN4):c.3012G>A (p.Pro1004=)	HCN4	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 2, autosomal dominant +3 more	GBenign/Likely benign
Select item 240167	NM_005477.3(HCN4):c.2938G>A (p.Gly980Arg)	HCN4 (G980R)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 570199	NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg)	HCN4 (G973R)	Single nucleotide variant (missense variant)	HCN4-related condition +4 more	GUncertain significance
Select item 701735	NM_005477.3(HCN4):c.2845C>T (p.Arg949Trp)	HCN4 (R949W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 137542	NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)	HCN4 (P883R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction +9 more	GBenign/Likely benign
Select item 95284	NM_005477.3(HCN4):c.2556G>A (p.Pro852=)	HCN4	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 2, autosomal dominant +3 more	GBenign
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 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 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 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 499412	NM_005477.3(HCN4):c.2025C>T (p.Ala675=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 137541	NM_005477.3(HCN4):c.1839C>T (p.Phe613=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 190770	NM_005477.3(HCN4):c.1703G>C (p.Ser568Thr)	HCN4 (S568T)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 190769	NM_005477.3(HCN4):c.1683C>A (p.Gly561=)	HCN4	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 5175	NM_005477.3(HCN4):c.1657G>A (p.Asp553Asn)	HCN4 (D553N)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +1 more	GUncertain significance
Select item 137540	NM_005477.3(HCN4):c.1591-19C>A	HCN4	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 137539	NM_005477.3(HCN4):c.1558C>T (p.Leu520=)	HCN4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 137538	NM_005477.3(HCN4):c.1518C>T (p.Tyr506=)	HCN4	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 190768	NM_005477.3(HCN4):c.1371+8C>T	HCN4	Single nucleotide variant (intron variant)	Brugada syndrome 8 +3 more	GBenign
Select item 286612	NM_005477.3(HCN4):c.1356C>T (p.Ser452=)	HCN4	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 412784	NM_005477.3(HCN4):c.1090G>A (p.Asp364Asn)	LOC126862173, HCN4 +1 more (D364N)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +3 more	GBenign/Likely benign
Select item 190788	NM_005477.3(HCN4):c.584C>T (p.Ala195Val)	HCN4 (A195V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 885695	NM_005477.3(HCN4):c.577G>T (p.Gly193Cys)	HCN4 (G193C)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +1 more	GUncertain significance
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 180370	NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)	HCN4 (E153G)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 885697	NM_005477.3(HCN4):c.375C>T (p.Ser125=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 511427	NM_005477.3(HCN4):c.249C>T (p.Gly83=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 137537	NM_005477.3(HCN4):c.107G>A (p.Gly36Glu)	HCN4 (G36E)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +3 more	GBenign/Likely benign
Select item 95286	NM_005477.3(HCN4):c.36C>G (p.Leu12=)	HCN4	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 2, autosomal dominant +5 more	GBenign
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 886705	NM_005477.3(HCN4):c.-132G>C	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 679603	NM_005477.3(HCN4):c.-189G>A	HCN4	Single nucleotide variant (5 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant +1 more	GBenign/Likely benign
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 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 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 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 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 887960	NM_005477.3(HCN4):c.-585C>A	HCN4	Single nucleotide variant (5 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign

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Items: 82