Related gene-specific medical variations for Gene (Select 610) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362753	NM_001194.4(HCN2):c.2113G>A (p.Ala705Thr)	HCN2 (A705T)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GLikely benign
Select item 3362694	NM_001194.4(HCN2):c.2144CGC[9] (p.Pro721_Gln722insProPro)	HCN2	Microsatellite	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 3362575	NM_001194.4(HCN2):c.307G>A (p.Gly103Arg)	HCN2 (G103R)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 3352693	NM_001194.4(HCN2):c.927G>A (p.Glu309=)	HCN2, LOC129391015	Single nucleotide variant (synonymous variant)	HCN2-related disorder	GLikely benign
Select item 3065943	NM_001194.4(HCN2):c.1937_1938insT (p.Met647fs)	HCN2 (M647fs)	Insertion (frameshift variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 3065615	NM_001194.4(HCN2):c.1921G>T (p.Val641Leu)	HCN2 (V641L)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 3065211	NM_001194.4(HCN2):c.1625dup (p.Met542fs)	HCN2 (M542fs)	Duplication (frameshift variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 3024081	NM_001194.4(HCN2):c.1379G>A (p.Gly460Asp)	HCN2 (G460D)	Single nucleotide variant (missense variant)	HCN2 related developmental and epileptic encephalopathy	GPathogenic
Select item 2576004	NM_001194.4(HCN2):c.1087G>A (p.Ala363Thr)	HCN2 (A363T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432390	NM_001194.4(HCN2):c.1336C>G (p.Leu446Val)	HCN2 (L446V)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 2432389	NM_001194.4(HCN2):c.2375C>A (p.Thr792Asn)	HCN2 (T792N)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 2432387	NM_001194.4(HCN2):c.2144CGC[10] (p.Pro721_Gln722insProProPro)	HCN2	Microsatellite (inframe_insertion)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 2432385	NM_001194.4(HCN2):c.17G>T (p.Gly6Val)	HCN2 (G6V)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 1801945	NM_001194.4(HCN2):c.1001T>A (p.Leu334His)	HCN2, LOC129391015 (L334H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711726	NM_001194.4(HCN2):c.971G>A (p.Arg324His)	HCN2, LOC129391015 (R324H)	Single nucleotide variant (missense variant)	HCN2 related developmental and epileptic encephalopathy	GPathogenic
Select item 1679786	NM_001194.4(HCN2):c.2279G>A (p.Arg760His)	HCN2 (R760H)	Single nucleotide variant (missense variant)	HCN2-associated Epilepsy syndrome	GUncertain significance
Select item 1319281	NM_001194.4(HCN2):c.137G>C (p.Gly46Ala)	HCN2 (G46A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308206	NM_001194.4(HCN2):c.970C>T (p.Arg324Cys)	HCN2, LOC129391015 (R324C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1277714	NM_001194.4(HCN2):c.963C>T (p.Arg321=)	HCN2, LOC129391015	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1268214	NM_001194.4(HCN2):c.921C>T (p.Ile307=)	HCN2, LOC129391015	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1266553	NM_001194.4(HCN2):c.915C>T (p.Phe305=)	HCN2, LOC129391015	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 992748	NM_001194.4(HCN2):c.2149C>T (p.Pro717Ser)	HCN2 (P717S)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 930280	NM_001194.4(HCN2):c.1889T>C (p.Leu630Pro)	HCN2 (L630P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 23