C4015119[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068456	NM_004975.4(KCNB1):c.2130del (p.Cys710fs)	KCNB1 (C710fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 26	GLikely pathogenic
Select item 982681	NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile)	KCNB1 (V413I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GPathogenic/Likely pathogenic
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 576946	NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu)	KCNB1 (G381E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GConflicting classifications of pathogenicity
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 916589	NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter)	KCNB1 (W370*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1707544	NM_004975.4(KCNB1):c.950T>C (p.Leu317Pro)	KCNB1 (L317P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
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 265207	NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)	KCNB1 (R312C)	Single nucleotide variant (missense variant)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 982573	NM_004975.4(KCNB1):c.917G>A (p.Arg306His)	KCNB1 (R306H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GConflicting classifications of pathogenicity
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 983032	NM_004975.4(KCNB1):c.898C>T (p.Arg300Cys)	KCNB1 (R300C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GConflicting classifications of pathogenicity
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic