"PreventionGenetics, part of Exact Sciences"[submitter] AND "HCN4"[gen - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 191449	NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln)	HCN4 (E1193Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1380724	NM_005477.3(HCN4):c.3532C>T (p.Pro1178Ser)	HCN4 (P1178S)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
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 697094	NM_005477.3(HCN4):c.3294G>A (p.Ala1098=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +2 more	GLikely benign
Select item 2629604	NM_005477.3(HCN4):c.3214C>T (p.Pro1072Ser)	HCN4 (P1072S)	Single nucleotide variant (missense variant)	HCN4-related disorder +1 more	GUncertain significance
Select item 412793	NM_005477.3(HCN4):c.3117G>A (p.Pro1039=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 470663	NM_005477.3(HCN4):c.3064C>T (p.Arg1022Ter)	HCN4 (R1022*)	Single nucleotide variant (nonsense)	Brugada syndrome 8 +4 more	GUncertain significance
Select item 291134	NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser)	HCN4 (P1004S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 570199	NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg)	HCN4 (G973R)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +4 more	GUncertain significance
Select item 519320	NM_005477.3(HCN4):c.2916C>T (p.Pro972=)	HCN4	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 2, autosomal dominant +4 more	GLikely benign
Select item 388491	NM_005477.3(HCN4):c.2838C>T (p.Pro946=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +3 more	GBenign/Likely benign
Select item 190774	NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys)	HCN4 (R934C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 264440	NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu)	HCN4 (F910L)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +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
Select item 538081	NM_005477.3(HCN4):c.2669C>T (p.Pro890Leu)	HCN4 (P890L)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +3 more	GUncertain significance
Select item 190773	NM_005477.3(HCN4):c.2657C>T (p.Ala886Val)	HCN4 (A886V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 447480	NM_005477.3(HCN4):c.2652C>T (p.Pro884=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 198821	NM_005477.3(HCN4):c.2601C>A (p.Ala867=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 95284	NM_005477.3(HCN4):c.2556G>A (p.Pro852=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +3 more	GBenign
Select item 198822	NM_005477.3(HCN4):c.2523G>A (p.Ser841=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +3 more	GConflicting classifications of pathogenicity
Select item 3052132	NM_005477.3(HCN4):c.2143+10A>T	HCN4	Single nucleotide variant (intron variant)	HCN4-related disorder	GLikely benign
Select item 681821	NM_005477.3(HCN4):c.2109C>T (p.Phe703=)	HCN4	Single nucleotide variant (synonymous variant)	HCN4-related disorder +3 more	GLikely benign
Select item 259779	NM_005477.3(HCN4):c.1979-41A>G	HCN4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1419907	NM_005477.3(HCN4):c.1871G>A (p.Arg624Gln)	HCN4 (R624Q)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 18 +5 more	GUncertain significance
Select item 668584	NM_005477.3(HCN4):c.1635C>T (p.Pro545=)	HCN4	Single nucleotide variant (synonymous variant)	HCN4-related disorder +3 more	GLikely benign
Select item 137539	NM_005477.3(HCN4):c.1558C>T (p.Leu520=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 137538	NM_005477.3(HCN4):c.1518C>T (p.Tyr506=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 1098043	NM_005477.3(HCN4):c.1512C>T (p.Thr504=)	HCN4	Single nucleotide variant (synonymous variant)	HCN4-related disorder +1 more	GLikely benign
Select item 404133	NM_005477.3(HCN4):c.1471G>A (p.Asp491Asn)	HCN4 (D491N)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 167171	NM_005477.3(HCN4):c.1459G>A (p.Val487Met)	HCN4 (V487M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2636206	NM_005477.3(HCN4):c.1433G>A (p.Cys478Tyr)	HCN4 (C478Y)	Single nucleotide variant (missense variant)	HCN4-related disorder	GLikely pathogenic
Select item 391642	NM_005477.3(HCN4):c.1401C>T (p.Tyr467=)	HCN4	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 384823	NM_005477.3(HCN4):c.1303C>T (p.Leu435=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +3 more	GLikely benign
Select item 519392	NM_005477.3(HCN4):c.1254C>T (p.Ile418=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +3 more	GLikely benign
Select item 412788	NM_005477.3(HCN4):c.1243G>A (p.Val415Met)	HCN4 (V415M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 1058362	NM_005477.3(HCN4):c.1094C>T (p.Ser365Leu)	HCN4, LOC105370890 +1 more (S365L)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 942085	NM_005477.3(HCN4):c.537C>T (p.Cys179=)	HCN4	Single nucleotide variant (synonymous variant)	HCN4-related disorder +2 more	GLikely benign
Select item 180370	NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)	HCN4 (E153G)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 538085	NM_005477.3(HCN4):c.394A>C (p.Ile132Leu)	HCN4 (I132L)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +3 more	GUncertain significance
Select item 885697	NM_005477.3(HCN4):c.375C>T (p.Ser125=)	HCN4	Single nucleotide variant (synonymous variant)	HCN4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 404125	NM_005477.3(HCN4):c.302C>T (p.Ala101Val)	HCN4 (A101V)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 969715	NM_005477.3(HCN4):c.252G>A (p.Ala84=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +2 more	GLikely benign
Select item 137537	NM_005477.3(HCN4):c.107G>A (p.Gly36Glu)	HCN4 (G36E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 470675	NM_005477.3(HCN4):c.82G>A (p.Glu28Lys)	HCN4 (E28K)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 95286	NM_005477.3(HCN4):c.36C>G (p.Leu12=)	HCN4	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign

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Items: 46