"Mendelics"[submitter] AND "KCNT1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802533	NM_020822.3(KCNT1):c.600+59A>C	KCNT1	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GBenign
Select item 802534	NM_020822.3(KCNT1):c.600+60G>A	KCNT1	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GBenign
Select item 802535	NM_020822.3(KCNT1):c.600+71dup	KCNT1	Duplication (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GBenign
Select item 1686407	NM_020822.3(KCNT1):c.618G>T (p.Gln206His)	KCNT1 (Q158H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1685902	NM_020822.3(KCNT1):c.841C>T (p.Leu281Phe)	KCNT1 (L233F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 39599	NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)	KCNT1 (R398Q +1 more)	Single nucleotide variant (missense variant)	KCNT1-related condition +4 more	GPathogenic/Likely pathogenic
Select item 662662	NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser)	KCNT1 (P364S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GPathogenic/Likely pathogenic
Select item 1685511	NM_020822.3(KCNT1):c.2009-3C>T	KCNT1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 129358	NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)	KCNT1 (E848G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1457517	NM_020822.3(KCNT1):c.2687T>A (p.Met896Lys)	KCNT1 (M851K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GPathogenic
Select item 224109	NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)	KCNT1 (R910Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 39597	NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)	KCNT1 (R928C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GPathogenic
Select item 802536	NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp)	KCNT1 (A1068D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GConflicting classifications of pathogenicity
Select item 802537	NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys)	KCNT1 (E1106K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GUncertain significance
Select item 802538	NM_020822.3(KCNT1):c.3502+1584G>A	KCNT1 (V1125I)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 14	GLikely benign