ClinVar for MedGen (Select 1794141) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236378	NM_001194.4(HCN2):c.1694T>G (p.Phe565Cys)	HCN2 (F565C)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 3066209	NM_001194.4(HCN2):c.2008C>T (p.Leu670Phe)	HCN2 (L670F)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
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 2576611	NM_001194.4(HCN2):c.2433_2448del (p.Leu813fs)	HCN2 (L813fs)	Deletion (frameshift variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	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 2432386	NM_001194.4(HCN2):c.2386G>T (p.Gly796Cys)	HCN2 (G796C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 983136	NM_001194.4(HCN2):c.1120A>C (p.Met374Leu)	HCN2 (M374L)	Single nucleotide variant (missense variant)	HCN2 related developmental and epileptic encephalopathy +2 more	GConflicting classifications of pathogenicity