Related gene-specific medical variations for Gene (Select 3745) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062072	NM_004975.4(KCNB1):c.682C>T (p.Gln228Ter)	KCNB1 (Q228*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 2582626	NM_004975.4(KCNB1):c.623T>G (p.Leu208Arg)	KCNB1 (L208R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely pathogenic
Select item 2580220	NM_004975.4(KCNB1):c.1020G>A (p.Met340Ile)	KCNB1 (M340I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2432989	NM_004975.4(KCNB1):c.1543G>A (p.Ala515Thr)	KCNB1 (A515T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 1676549	NM_004975.4(KCNB1):c.1604A>G (p.Lys535Arg)	KCNB1 (K535R)	Single nucleotide variant	not provided	GUncertain significance
Select item 986923	NM_004975.4(KCNB1):c.978del (p.Ser327fs)	KCNB1 (S327fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 975410	NM_004975.4(KCNB1):c.1398G>C (p.Glu466Asp)	KCNB1 (E466D)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 932381	NM_004975.4(KCNB1):c.605C>G (p.Ser202Cys)	KCNB1 (S202C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 872734	NM_004975.4(KCNB1):c.567G>C (p.Lys189Asn)	KCNB1 (K189N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 633636	NM_004975.4(KCNB1):c.1489G>T (p.Glu497Ter)	KCNB1 (E497*)	Single nucleotide variant (nonsense)	Intellectual disability	GLikely pathogenic
Select item 633634	NM_004975.4(KCNB1):c.1226T>C (p.Ile409Thr)	KCNB1 (I409T)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic