Related gene-specific medical variations for Gene (Select 343450) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685788	GRCh37/hg19 1q31.3(chr1:196319055-196478071)x1	KCNT2	Copy number loss	not provided	GUncertain significance
Select item 2433047	NM_198503.5(KCNT2):c.1561G>A (p.Val521Ile)	KCNT2 (V471I +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 57	GUncertain significance
Select item 2433046	NM_198503.5(KCNT2):c.1187A>G (p.Asp396Gly)	KCNT2 (D396G)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 57	GUncertain significance
Select item 2433045	NM_198503.5(KCNT2):c.87C>G (p.Asn29Lys)	KCNT2 (N29K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 57	GUncertain significance
Select item 1807892	GRCh37/hg19 1q31.3(chr1:196004403-196565761)x3	KCNT2	Copy number gain	not provided	GUncertain significance
Select item 1679579	NM_198503.5(KCNT2):c.2831A>G (p.Tyr944Cys)	KCNT2 (Y870C +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 57	GUncertain significance
Select item 1676494	NM_198503.5(KCNT2):c.2874C>G (p.Ile958Met)	KCNT2 (I884M +2 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1341792	NM_198503.5(KCNT2):c.2674A>G (p.Met892Val)	KCNT2 (M818V +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 57	GUncertain significance
Select item 1340738	GRCh37/hg19 1q31.3(chr1:196105097-196205248)x1	KCNT2	Copy number loss	not provided	GUncertain significance
Select item 1213788	NM_198503.5(KCNT2):c.2680G>A (p.Asp894Asn)	KCNT2 (D820N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 57	GUncertain significance
Select item 983411	NM_198503.5(KCNT2):c.308C>T (p.Pro103Leu)	KCNT2 (P103L)	Single nucleotide variant (missense variant +1 more)	Seizure	GUncertain significance
Select item 687951	GRCh37/hg19 1q31.3(chr1:196024811-196255042)x3	KCNT2	Copy number gain	not provided	GUncertain significance