C0543888[trait identifier] AND "Laboratoire de Génétique Moléculaire I - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 633635	NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu)	KCNB1 (F416L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GPathogenic
Select item 633633	NM_004975.4(KCNB1):c.1201G>A (p.Gly401Arg)	KCNB1 (G401R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GPathogenic
Select item 545438	NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)	KCNB1 (G395R)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 633632	NM_004975.4(KCNB1):c.1180G>A (p.Gly394Arg)	KCNB1 (G394R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 633631	NM_004975.4(KCNB1):c.1144G>A (p.Asp382Asn)	KCNB1 (D382N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 633630	NM_004975.4(KCNB1):c.1139A>G (p.Tyr380Cys)	KCNB1 (Y380C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GConflicting classifications of pathogenicity
Select item 633629	NM_004975.4(KCNB1):c.1132G>C (p.Val378Leu)	KCNB1 (V378L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GPathogenic
Select item 633628	NM_004975.4(KCNB1):c.1130C>A (p.Thr377Asn)	KCNB1 (T377N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GPathogenic
Select item 633625	NM_004975.4(KCNB1):c.1105T>C (p.Trp369Arg)	KCNB1 (W369R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GConflicting classifications of pathogenicity
Select item 633624	NM_004975.4(KCNB1):c.1045G>T (p.Val349Phe)	KCNB1 (V349F)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GPathogenic
Select item 475255	NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)	KCNB1 (S347R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GPathogenic
Select item 559895	NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro)	KCNB1 (L334P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GLikely pathogenic
Select item 633623	NM_004975.4(KCNB1):c.984C>G (p.Tyr328Ter)	KCNB1 (Y328*)	Single nucleotide variant (nonsense)	Epileptic encephalopathy	GPathogenic
Select item 633622	NM_004975.4(KCNB1):c.968C>T (p.Thr323Ile)	KCNB1 (T323I)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +1 more	GPathogenic/Likely pathogenic
Select item 523478	NM_004975.4(KCNB1):c.935G>A (p.Arg312His)	KCNB1 (R312H)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 449693	NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)	KCNB1 (R306C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 633621	NM_004975.4(KCNB1):c.857del (p.Val286fs)	KCNB1 (V286fs)	Deletion (frameshift variant)	Epileptic encephalopathy	GPathogenic
Select item 633620	NM_004975.4(KCNB1):c.629C>G (p.Thr210Arg)	KCNB1 (T210R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GPathogenic
Select item 633619	NM_004975.4(KCNB1):c.128A>G (p.Glu43Gly)	KCNB1 (E43G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic