"GeneDx"[submitter] AND "LOC105370890"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 675875	NM_005477.3(HCN4):c.1209+211A>G	HCN4, LOC105370890	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189107	NM_005477.3(HCN4):c.1209+123A>G	HCN4, LOC105370890	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 190780	NM_005477.3(HCN4):c.1178G>A (p.Arg393His)	HCN4, LOC105370890 (R393H)	Single nucleotide variant (missense variant)	not provided +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)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1266742	NM_005477.3(HCN4):c.1140G>A (p.Thr380=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +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)	not provided +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)	Brugada syndrome 8 +4 more	GConflicting classifications of pathogenicity
Select item 2133484	NM_005477.3(HCN4):c.1126A>G (p.Ile376Val)	HCN4, LOC105370890 +1 more (I376V)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 571947	NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys)	HCN4, LOC105370890 +1 more (R375C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1112439	NM_005477.3(HCN4):c.1095G>A (p.Ser365=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 412784	NM_005477.3(HCN4):c.1090G>A (p.Asp364Asn)	HCN4, LOC105370890 +1 more (D364N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 848292	NM_005477.3(HCN4):c.1027A>G (p.Met343Val)	HCN4, LOC105370890 +1 more (M343V)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 538097	NM_005477.3(HCN4):c.1014G>C (p.Leu338=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2004717	NM_005477.3(HCN4):c.1009T>C (p.Tyr337His)	HCN4, LOC105370890 +1 more (Y337H)	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)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 697174	NM_005477.3(HCN4):c.990G>A (p.Pro330=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 388974	NM_005477.3(HCN4):c.990G>T (p.Pro330=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 412785	NM_005477.3(HCN4):c.954C>T (p.Ile318=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +2 more	GLikely benign
Select item 1307595	NM_005477.3(HCN4):c.927C>G (p.Asp309Glu)	HCN4, LOC105370890 +1 more (D309E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 950840	NM_005477.3(HCN4):c.839T>C (p.Ile280Thr)	HCN4, LOC105370890 +1 more (I280T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 509649	NM_005477.3(HCN4):c.786-16_786-15del	HCN4, LOC105370890 +1 more	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 681503	NM_005477.3(HCN4):c.786-17C>G	HCN4, LOC105370890 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676618	NM_005477.3(HCN4):c.786-92T>C	HCN4, LOC105370890 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 25