C3554306[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 88683	NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)	SPAG1 (Q672*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 193922	NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys)	KCNT1 (E297K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +3 more	GConflicting classifications of pathogenicity
Select item 473354	NM_020822.3(KCNT1):c.1038C>T (p.Phe346=)	KCNT1	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GLikely benign
Select item 39599	NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)	KCNT1 (R398Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +4 more	GPathogenic/Likely pathogenic
Select item 374722	NM_020822.3(KCNT1):c.1664G>A (p.Arg555His)	KCNT1 (R555H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 431905	NM_020822.3(KCNT1):c.1975C>T (p.Arg659Cys)	KCNT1 (R659C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 571802	NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp)	KCNT1 (R682W +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GUncertain significance
Select item 581543	NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser)	KCNT1 (G688S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 129359	NM_020822.3(KCNT1):c.2619C>T (p.Gly873=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +3 more	GBenign/Likely benign
Select item 540568	NM_020822.3(KCNT1):c.3125G>A (p.Arg1042Gln)	KCNT1 (R1042Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 129362	NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser)	KCNT1 (P1099S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 129363	NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=)	KCNT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 279821	NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln)	KCNT1 (R1106Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 388007	NM_020822.3(KCNT1):c.3503-18C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +2 more	GBenign/Likely benign
Select item 501376	NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu)	KCNT1 (P1192L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 391286	NM_020822.3(KCNT1):c.3681C>T (p.Pro1227=)	KCNT1	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +3 more	GBenign/Likely benign
Select item 374646	NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn)	KCNT1 (D1231N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance