Related gene-specific medical variations for Gene (Select 3785) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065625	NM_172107.4(KCNQ2):c.1565G>A (p.Ser522Asn)	KCNQ2 (S491N +3 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 1	GUncertain significance
Select item 3065598	NM_172107.4(KCNQ2):c.2260G>C (p.Ala754Pro)	KCNQ2 (A723P +4 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 1	GUncertain significance
Select item 2685652	GRCh37/hg19 20q13.33(chr20:62044658-62091058)x1	KCNQ2	Copy number loss	not provided	GPathogenic
Select item 2685651	GRCh37/hg19 20q13.33(chr20:62002791-62054955)x1	KCNQ2	Copy number loss	not provided	GPathogenic
Select item 2672259	NM_172107.4(KCNQ2):c.2599T>C (p.Trp867Arg)	KCNQ2 (W836R +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GUncertain significance
Select item 2503448	NM_172107.4(KCNQ2):c.1525G>T (p.Glu509Ter)	KCNQ2 (A479S +3 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 2446048	NM_172107.4(KCNQ2):c.1163T>C (p.Leu388Pro)	KCNQ2 (L378P +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant epilepsy	GLikely pathogenic
Select item 2442145	NM_172107.4(KCNQ2):c.797A>T (p.Asp266Val)	KCNQ2 (D266V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 2433026	NM_172107.4(KCNQ2):c.2323A>G (p.Arg775Gly)	KCNQ2 (R744G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433025	NM_172107.4(KCNQ2):c.629G>T (p.Arg210Leu)	KCNQ2 (R210L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433024	NM_172107.4(KCNQ2):c.1217+3C>T	KCNQ2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2433023	NM_172107.4(KCNQ2):c.655A>G (p.Lys219Glu)	KCNQ2 (K219E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430052	NM_172107.4(KCNQ2):c.112G>C (p.Gly38Arg)	KCNQ2 (G38R)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430051	NM_172107.4(KCNQ2):c.1189C>T (p.Leu397Phe)	KCNQ2 (L387F +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430050	NM_172107.4(KCNQ2):c.1603G>A (p.Gly535Ser)	KCNQ2 (G504S +3 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 1992305	NM_172107.4(KCNQ2):c.601C>G (p.Arg201Gly)	KCNQ2 (R201G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GPathogenic
Select item 1807141	NM_172107.4(KCNQ2):c.1688_1689delinsCA (p.Asp563Ala)	KCNQ2 (D532A +3 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1803046	NM_172107.4(KCNQ2):c.2331dup (p.Glu778fs)	KCNQ2 (E747fs +4 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 7	GPathogenic
Select item 1701727	NM_172107.4(KCNQ2):c.1024-5C>T	KCNQ2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 7	GUncertain significance
Select item 1700189	NM_172107.4(KCNQ2):c.807G>T (p.Trp269Cys)	KCNQ2 (W269C)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 1	GPathogenic
Select item 1691450	NM_172107.4(KCNQ2):c.652T>A (p.Trp218Arg)	KCNQ2 (W218R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GPathogenic
Select item 1676605	NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter)	KCNQ2 (E17*)	Single nucleotide variant	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 1324609	NM_172107.4(KCNQ2):c.817-1_817delinsAT	KCNQ2	Indel (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1098634	NM_172107.4(KCNQ2):c.1763+1576T>G	KCNQ2 (M573R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 7	GUncertain significance
Select item 1069867	NC_000020.10:g.(?_61952107)_62044936del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1048634	NM_172107.4(KCNQ2):c.670G>C (p.Val224Leu)	KCNQ2 (V224L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 1022833	NC_000020.10:g.(?_62081939)_62119720del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 997696	NM_172107.4:c.(296+1_297-1)_(514+1_515-1)del	KCNQ2	Deletion	Seizure	GPathogenic
Select item 993825	NM_172107.4(KCNQ2):c.1089C>A (p.Tyr363Ter)	KCNQ2 (Y363*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 975416	NM_172107.4(KCNQ2):c.286C>A (p.His96Asn)	KCNQ2 (H96N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1	GPathogenic
Select item 975415	NM_172107.4(KCNQ2):c.122dup (p.Ile42fs)	KCNQ2 (I42fs)	Duplication (frameshift variant)	Intellectual disability	GUncertain significance
Select item 975414	NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala)	KCNQ2 (T263A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1	GLikely pathogenic
Select item 930306	NM_172107.4(KCNQ2):c.2272_2286del (p.Gly758_Ser762del)	KCNQ2	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 7	GUncertain significance
Select item 618186	NM_172107.4(KCNQ2):c.992A>C (p.Lys331Thr)	KCNQ2 (K331T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 520409	NM_172107.4(KCNQ2):c.2378_2391del (p.Val793fs)	KCNQ2 (V793fs +3 more)	Deletion (frameshift variant)	Seizures, benign familial neonatal, 1	GPathogenic
Select item 438297	NM_172107.4(KCNQ2):c.476G>T (p.Gly159Val)	KCNQ2 (G159V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 425272	NM_172107.4(KCNQ2):c.563A>C (p.Gln188Pro)	KCNQ2 (Q188P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374744	NM_172107.4(KCNQ2):c.815T>C (p.Leu272Pro)	KCNQ2 (L272P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 369787	NM_172107.2(KCNQ2):c.1119-?_*382del	KCNQ2	Deletion	Seizures, benign familial neonatal, 1	GPathogenic
Select item 369750	NM_172107.2(KCNQ2):c.388-?_1301+?del	KCNQ2	Deletion	Seizures, benign familial neonatal, 1	GPathogenic
Select item 369749	NM_172107.2(KCNQ2):c.388-682_1118+?del	KCNQ2	Deletion	Seizures, benign familial neonatal, 1	GPathogenic
Select item 369745	NM_172107.2(KCNQ2):c.297-?_1247+?del	KCNQ2	Deletion	Seizures, benign familial neonatal, 1	GPathogenic
Select item 369740	NM_172107.2:c.1-?c.993+?del	KCNQ2	Deletion	Seizures, benign familial neonatal, 1	GPathogenic
Select item 253418	GRCh37/hg19 20q13.33(chr20:62051174-62078598)x1	KCNQ2	Copy number loss	See cases	GPathogenic
Select item 253385	GRCh37/hg19 20q13.33(chr20:62045767-62055866)x1	KCNQ2	Copy number loss	See cases	GPathogenic
Select item 39096	NM_172107.2:c.(1228_1230)del12	KCNQ2	Deletion	Seizures, benign familial neonatal, 1	Gnot provided

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Links from Gene

Items: 46