Related gene-specific medical variations for Gene (Select 57582) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370304	NM_020822.3(KCNT1):c.1310T>C (p.Leu437Pro)	KCNT1 (L392P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely pathogenic
Select item 3362361	NM_020822.3(KCNT1):c.2125_2137dup (p.Val713fs)	KCNT1 (V668fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 14	GLikely pathogenic
Select item 3359003	NM_020822.3(KCNT1):c.2915T>A (p.Ile972Asn)	KCNT1 (I927N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14	GUncertain significance
Select item 3245257	NC_000009.11:g.(?_138683623)_(138684007_?)dup	KCNT1	Duplication	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3245256	NC_000009.11:g.(?_138676361)_(138676755_?)dup	KCNT1	Duplication	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3245255	NC_000009.11:g.(?_138676361)_(138676484_?)del	KCNT1	Deletion	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3245254	NC_000009.11:g.(?_138606403)_(138606586_?)del	KCNT1	Deletion	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3245252	NC_000009.11:g.(?_138662683)_(138662961_?)del	KCNT1	Deletion	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3067996	NM_020822.3(KCNT1):c.2890T>C (p.Phe964Leu)	KCNT1 (F919L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14	GUncertain significance
Select item 3065427	NM_020822.3(KCNT1):c.743C>T (p.Ala248Val)	KCNT1 (A200V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14	GUncertain significance
Select item 3064484	NM_020822.3(KCNT1):c.2576T>C (p.Met859Thr)	KCNT1 (M814T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14	GUncertain significance
Select item 2689298	NM_020822.3(KCNT1):c.1223G>A (p.Cys408Tyr)	KCNT1 (C363Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446377	NM_020822.3(KCNT1):c.3211G>A (p.Asp1071Asn)	KCNT1 (D1026N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14	GUncertain significance
Select item 2433043	NM_020822.3(KCNT1):c.32G>C (p.Gly11Ala)	KCNT1 (G11A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433042	NM_020822.3(KCNT1):c.2188G>C (p.Asp730His)	KCNT1 (D685H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433041	NM_020822.3(KCNT1):c.940A>G (p.Thr314Ala)	KCNT1 (T269A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433040	NM_020822.3(KCNT1):c.2116C>T (p.Arg706Trp)	KCNT1 (R661W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433039	NM_020822.3(KCNT1):c.2197G>A (p.Glu733Lys)	KCNT1 (E688K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433037	NM_020822.3(KCNT1):c.1391G>A (p.Arg464His)	KCNT1 (R419H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433036	NM_020822.3(KCNT1):c.1147A>G (p.Ile383Val)	KCNT1 (I338V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433035	NM_020822.3(KCNT1):c.1136G>T (p.Ser379Ile)	KCNT1 (S334I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801408	NM_020822.3(KCNT1):c.760-365_760-232del	KCNT1	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1700097	NM_020822.3(KCNT1):c.2813A>G (p.Tyr938Cys)	KCNT1 (Y893C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 995170	NM_020822.3(KCNT1):c.1065G>A (p.Glu355=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 930854	NM_020822.3(KCNT1):c.111-2A>T	KCNT1	Single nucleotide variant (splice acceptor variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 5	GUncertain significance
Select item 930468	NM_020822.3(KCNT1):c.2166_2170del (p.Pro724fs)	KCNT1 (P679fs +1 more)	Deletion (frameshift variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5	GUncertain significance
Select item 811248	NM_020822.3(KCNT1):c.1661G>A (p.Gly554Glu)	KCNT1 (G509E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 810467	NM_020822.3(KCNT1):c.510G>A (p.Val170=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 540574	NM_020822.3(KCNT1):c.82_85delinsC (p.Glu28_Phe29delinsLeu)	KCNT1	Indel (inframe_indel)	not provided	GUncertain significance
Select item 445339	NM_020822.3(KCNT1):c.808C>G (p.Gln270Glu)	KCNT1 (Q270E +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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

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Links from Gene

Items: 31