"Ambry Genetics"[submitter] AND "LOC126862173"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 660645	NM_005477.3(HCN4):c.1168C>T (p.Arg390Cys)	LOC126862173, HCN4 +1 more (R390C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1024445	NM_005477.3(HCN4):c.1159C>G (p.Arg387Gly)	HCN4, LOC105370890 +1 more (R387G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 998731	NM_005477.3(HCN4):c.1159C>T (p.Arg387Cys)	HCN4, LOC105370890 +1 more (R387C)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 264040	NM_005477.3(HCN4):c.1155C>T (p.Leu385=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1266742	NM_005477.3(HCN4):c.1140G>A (p.Thr380=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1730598	NM_005477.3(HCN4):c.1139C>T (p.Thr380Met)	HCN4, LOC105370890 +1 more (T380M)	Single nucleotide variant (missense 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)	Sick sinus syndrome 2, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 571947	NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys)	HCN4, LOC105370890 +1 more (R375C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 3104525	NM_005477.3(HCN4):c.1120C>G (p.Leu374Val)	HCN4, LOC105370890 +1 more (L374V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1109349	NM_005477.3(HCN4):c.1120C>T (p.Leu374=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +1 more	GLikely benign
Select item 1794011	NM_005477.3(HCN4):c.1107G>A (p.Lys369=)	LOC105370890, LOC126862173 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1112439	NM_005477.3(HCN4):c.1095G>A (p.Ser365=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
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 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 412787	NM_005477.3(HCN4):c.1089C>T (p.Ile363=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 650677	NM_005477.3(HCN4):c.1087A>G (p.Ile363Val)	HCN4, LOC105370890 +1 more (I363V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1784745	NM_005477.3(HCN4):c.1075G>T (p.Val359Leu)	HCN4, LOC105370890 +1 more (V359L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1054529	NM_005477.3(HCN4):c.1073T>C (p.Ile358Thr)	HCN4, LOC105370890 +1 more (I358T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1782741	NM_005477.3(HCN4):c.1069C>T (p.Leu357Phe)	HCN4, LOC105370890 +1 more (L357F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2565012	NM_005477.3(HCN4):c.1062C>T (p.Tyr354=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1774974	NM_005477.3(HCN4):c.1044C>T (p.Ser348=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1571545	NM_005477.3(HCN4):c.1044C>G (p.Ser348=)	LOC105370890, HCN4 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 848292	NM_005477.3(HCN4):c.1027A>G (p.Met343Val)	HCN4, LOC105370890 +1 more (M343V)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GLikely benign
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 2450265	NM_005477.3(HCN4):c.1020C>G (p.Ser340Arg)	HCN4, LOC105370890 +1 more (S340R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 538097	NM_005477.3(HCN4):c.1014G>C (p.Leu338=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 470643	NM_005477.3(HCN4):c.1005G>A (p.Met335Ile)	HCN4, LOC105370890 +1 more (M335I)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 1779501	NM_005477.3(HCN4):c.1004T>G (p.Met335Arg)	HCN4, LOC105370890 +1 more (M335R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 519261	NM_005477.3(HCN4):c.995G>A (p.Arg332Gln)	HCN4, LOC105370890 +1 more (R332Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 954774	NM_005477.3(HCN4):c.994C>T (p.Arg332Trp)	HCN4, LOC105370890 +1 more (R332W)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 697174	NM_005477.3(HCN4):c.990G>A (p.Pro330=)	LOC105370890, LOC126862173 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 660833	NM_005477.3(HCN4):c.989C>T (p.Pro330Leu)	HCN4, LOC105370890 +1 more (P330L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1374620	NM_005477.3(HCN4):c.988C>A (p.Pro330Thr)	HCN4, LOC105370890 +1 more (P330T)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 1007056	NM_005477.3(HCN4):c.975G>T (p.Glu325Asp)	HCN4, LOC105370890 +1 more (E325D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 412785	NM_005477.3(HCN4):c.954C>T (p.Ile318=)	LOC126862173, HCN4 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +2 more	GLikely benign
Select item 1058283	NM_005477.3(HCN4):c.915C>A (p.Phe305Leu)	HCN4, LOC105370890 +1 more (F305L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1765318	NM_005477.3(HCN4):c.897T>C (p.Asn299=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 373246	NM_005477.3(HCN4):c.896A>G (p.Asn299Ser)	HCN4, LOC105370890 +1 more (N299S)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 1764998	NM_005477.3(HCN4):c.888T>C (p.Ile296=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1764791	NM_005477.3(HCN4):c.882C>G (p.Pro294=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +1 more	GLikely benign
Select item 2626616	NM_005477.3(HCN4):c.881C>T (p.Pro294Leu)	HCN4, LOC105370890 +1 more (P294L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2257679	NM_005477.3(HCN4):c.845T>G (p.Val282Gly)	HCN4, LOC105370890 +1 more (V282G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1655807	NM_005477.3(HCN4):c.786-4G>A	LOC126862173, HCN4 +1 more	Single nucleotide variant (intron variant)	Brugada syndrome 8 +1 more	GLikely benign

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Items: 43