ClinVar for MedGen (Select 462336) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069190	NM_172107.4(KCNQ2):c.763A>C (p.Lys255Gln)	KCNQ2 (K255Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
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 2585470	NM_172107.4(KCNQ2):c.691G>A (p.Glu231Lys)	KCNQ2 (E231K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GUncertain significance
Select item 2585057	NM_172107.4(KCNQ2):c.403GTG[1] (p.Val136del)	KCNQ2 (V136del)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 7	GUncertain significance
Select item 2584390	NM_172107.4(KCNQ2):c.937G>A (p.Gly313Arg)	KCNQ2 (G313R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2572483	NM_172107.4(KCNQ2):c.923C>T (p.Pro308Leu)	KCNQ2 (P308L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 2570650	NM_172107.4(KCNQ2):c.1148+2T>A	KCNQ2	Single nucleotide variant (intron variant +1 more)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 2505563	NM_172107.4(KCNQ2):c.91G>T (p.Ala31Ser)	KCNQ2 (A31S)	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 2500788	NM_172107.4(KCNQ2):c.2330_2331dup (p.Glu778fs)	KCNQ2 (E747fs +4 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 7	GPathogenic
Select item 2500737	NM_172107.4(KCNQ2):c.829A>G (p.Thr277Ala)	KCNQ2 (T277A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GPathogenic
Select item 2500050	NM_172107.4(KCNQ2):c.773A>T (p.Asn258Ile)	KCNQ2 (N258I)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 1 +1 more	GUncertain significance
Select item 2446712	NM_172107.4(KCNQ2):c.634dup (p.Asp212fs)	KCNQ2 (D212fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 2444145	NM_172107.4(KCNQ2):c.836G>T (p.Gly279Val)	KCNQ2 (G279V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 2442361	NM_172107.4(KCNQ2):c.566G>A (p.Gly189Asp)	KCNQ2 (G189D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	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 2431716	NM_172107.4(KCNQ2):c.329_334del (p.Ser110_Val111del)	KCNQ2	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 7	GUncertain significance
Select item 2431526	NM_172107.4(KCNQ2):c.236del (p.Asn79fs)	KCNQ2 (N79fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 2230984	NM_172107.4(KCNQ2):c.1632-5T>A	KCNQ2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 7 +1 more	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 1878612	NM_172107.4(KCNQ2):c.1559A>G (p.Asp520Gly)	KCNQ2 (D489G +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 1805737	NM_172107.4(KCNQ2):c.856C>G (p.Gln286Glu)	KCNQ2 (Q286E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GUncertain significance
Select item 1805714	NM_172107.4(KCNQ2):c.835G>A (p.Gly279Ser)	KCNQ2 (G279S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GPathogenic
Select item 1803794	NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys)	KCNQ2 (G290C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GPathogenic/Likely pathogenic
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 1717297	NM_172107.4(KCNQ2):c.715G>A (p.Gly239Ser)	KCNQ2 (G239S)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1710249	NM_172107.4(KCNQ2):c.514G>A (p.Asp172Asn)	KCNQ2 (D172N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1710128	NM_172107.4(KCNQ2):c.1666A>C (p.Lys556Gln)	KCNQ2 (K525Q +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 1709240	NM_172107.4(KCNQ2):c.850T>C (p.Tyr284His)	KCNQ2 (Y284H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 1709128	NM_172107.4(KCNQ2):c.1632-6C>A	KCNQ2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 1709043	NM_172107.4(KCNQ2):c.922C>T (p.Pro308Ser)	KCNQ2 (P308S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 1705411	NM_172107.4(KCNQ2):c.1657C>G (p.Arg553Gly)	KCNQ2 (R522G +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 1701799	NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp)	KCNQ2 (G279D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +1 more	GPathogenic/Likely pathogenic
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 1697296	NM_172107.4(KCNQ2):c.380A>T (p.Tyr127Phe)	KCNQ2 (Y127F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 1697259	NM_172107.4(KCNQ2):c.1787G>C (p.Gly596Ala)	KCNQ2 (G565A +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GUncertain significance
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 1691288	NM_172107.4(KCNQ2):c.1291G>A (p.Gly431Arg)	KCNQ2 (G431R)	Single nucleotide variant (missense variant +1 more)	Seizures, benign familial neonatal, 1 +2 more	GUncertain significance
Select item 1687237	NM_172107.4(KCNQ2):c.946T>C (p.Phe316Leu)	KCNQ2 (F316L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GUncertain significance
Select item 1683778	NM_172107.4(KCNQ2):c.725G>A (p.Cys242Tyr)	KCNQ2 (C242Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 1683753	NM_172107.4(KCNQ2):c.401T>A (p.Ile134Asn)	KCNQ2 (I134N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 1679606	NM_172107.4(KCNQ2):c.7C>G (p.Gln3Glu)	KCNQ2 (Q3E)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
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 1557742	NM_172107.4(KCNQ2):c.691-14C>T	KCNQ2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 1526159	NM_172107.4(KCNQ2):c.569A>T (p.Asn190Ile)	KCNQ2 (N190I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GUncertain significance
Select item 1522201	NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser)	KCNQ2 (G271S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1475175	NM_172107.4(KCNQ2):c.173GCGCGGGCG[3] (p.Gly61_Gly63dup)	KCNQ2	Microsatellite (inframe_insertion)	Seizures, benign familial neonatal, 1 +2 more	GUncertain significance
Select item 1459931	NM_172107.4(KCNQ2):c.1168C>T (p.Gln390Ter)	KCNQ2 (Q390* +1 more)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 1434142	NM_172107.4(KCNQ2):c.2108C>T (p.Ala703Val)	KCNQ2 (A675V +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +2 more	GUncertain significance
Select item 1373841	NM_172107.4(KCNQ2):c.1111A>G (p.Met371Val)	KCNQ2 (M371V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1333324	NM_172107.4(KCNQ2):c.1118G>T (p.Ser373Ile)	KCNQ2 (R373I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GUncertain significance
Select item 1332854	NM_172107.4(KCNQ2):c.316T>G (p.Cys106Gly)	KCNQ2 (C106G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 1326337	GRCh37/hg19 20q13.33(chr20:61986847-62224435)	CHRNA4, EEF1A2 +7 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326336	GRCh37/hg19 20q13.33(chr20:61038552-62907579)	SLC17A9, ZGPAT +51 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326335	GRCh37/hg19 20q13.33(chr20:61273854-62907579)	HAR1A, HAR1B +47 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326334	GRCh37/hg19 20q13.33(chr20:61041481-62680992)	CHRNA4, ABHD16B +44 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326333	GRCh37/hg19 20q13.33(chr20:61986847-62055559)	CHRNA4, KCNQ2	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326332	GRCh37/hg19 20q13.33(chr20:61974574-62078190)	CHRNA4, KCNQ2	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326331	GRCh37/hg19 20q13.33(chr20:61974574-62129187)	CHRNA4, EEF1A2 +1 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326330	GRCh37/hg19 20q13.33(chr20:62069977-62129187)	EEF1A2, KCNQ2	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326329	GRCh37/hg19 20q13.33(chr20:61826780-62660844)	COL20A1, DNAJC5 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326328	GRCh37/hg19 20q13.33(chr20:61944468-62104030)	CHRNA4, COL20A1 +1 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326326	NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe)	KCNQ2 (S223F)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic/Likely pathogenic
Select item 1326325	NM_172107.4(KCNQ2):c.1623_1631+5del	KCNQ2	Deletion (splice donor variant)	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326324	NM_172107.4(KCNQ2):c.367del (p.Glu123fs)	KCNQ2 (E123fs)	Deletion (frameshift variant)	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326323	NM_172107.4(KCNQ2):c.385C>G (p.Leu129Val)	KCNQ2 (L129V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1326322	NM_172107.4(KCNQ2):c.617T>G (p.Leu206Arg)	KCNQ2 (L206R)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 1 +1 more	GPathogenic
Select item 1326321	NM_172107.4(KCNQ2):c.1763+4A>G	KCNQ2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1326320	NM_172107.4(KCNQ2):c.1123C>T (p.Gln375Ter)	KCNQ2 (Q375*)	Single nucleotide variant (nonsense +1 more)	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326319	NM_172107.4(KCNQ2):c.1663T>A (p.Phe555Ile)	KCNQ2 (F524I +3 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326318	NM_172107.4(KCNQ2):c.1154dup (p.Leu388fs)	KCNQ2 (L378fs +1 more)	Duplication (frameshift variant)	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326317	NM_172107.4(KCNQ2):c.1045A>C (p.Thr349Pro)	KCNQ2 (T349P)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326316	NM_172107.4(KCNQ2):c.171_172delinsAA (p.Arg58Ser)	KCNQ2 (R58S)	Indel (missense variant)	Developmental and epileptic encephalopathy, 7	GPathogenic
Select item 1326315	NM_172107.4(KCNQ2):c.533C>T (p.Ala178Val)	KCNQ2 (A178V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 1320124	NM_172107.4(KCNQ2):c.706T>C (p.Trp236Arg)	KCNQ2 (W236R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 1285561	NM_172107.4(KCNQ2):c.806G>C (p.Trp269Ser)	KCNQ2 (W269S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 1210663	NM_172107.4(KCNQ2):c.799G>A (p.Ala267Thr)	KCNQ2 (A267T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1164059	NM_172107.4(KCNQ2):c.878T>C (p.Leu293Pro)	KCNQ2 (L293P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GPathogenic
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 1068430	NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn)	KCNQ2 (K552N +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1063140	NM_172107.4(KCNQ2):c.104C>G (p.Thr35Ser)	KCNQ2 (T35S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
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 1034352	NM_172107.4(KCNQ2):c.1160dup (p.Leu388fs)	KCNQ2 (L378fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 7 +1 more	GPathogenic
Select item 1029262	NM_172107.4(KCNQ2):c.1118+18C>T	KCNQ2 (P379L)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1029261	NM_172107.4(KCNQ2):c.51G>T (p.Glu17Asp)	KCNQ2 (E17D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GUncertain significance
Select item 1029260	NM_172107.4(KCNQ2):c.1420G>T (p.Glu474Ter)	KCNQ2 (E456* +3 more)	Single nucleotide variant (nonsense)	Seizures, benign familial neonatal, 1 +1 more	GPathogenic
Select item 1023279	NM_172107.4(KCNQ2):c.64G>A (p.Val22Met)	KCNQ2 (V22M)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1022468	NM_172107.4(KCNQ2):c.1720G>A (p.Gly574Ser)	KCNQ2 (G543S +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 982654	NM_172107.4(KCNQ2):c.584C>G (p.Ser195Cys)	KCNQ2 (S195C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 982412	NM_172107.4(KCNQ2):c.838T>C (p.Tyr280His)	KCNQ2 (Y280H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 978712	NM_172107.4(KCNQ2):c.562C>A (p.Gln188Lys)	KCNQ2 (Q188K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 977299	NM_172107.4(KCNQ2):c.578C>T (p.Ala193Val)	KCNQ2 (A193V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic/Likely pathogenic
Select item 976423	NM_172107.4(KCNQ2):c.1022A>G (p.Gln341Arg)	KCNQ2 (Q341R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 976223	NM_172107.4(KCNQ2):c.762G>C (p.Glu254Asp)	KCNQ2 (E254D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 976159	NM_172107.4(KCNQ2):c.1064A>T (p.Asp355Val)	KCNQ2 (D355V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 976136	NM_172107.4(KCNQ2):c.297-1G>C	KCNQ2	Single nucleotide variant (splice acceptor variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely pathogenic
Select item 975996	NM_172107.4(KCNQ2):c.816+2T>A	KCNQ2	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 975979	NM_172107.4(KCNQ2):c.766G>A (p.Gly256Arg)	KCNQ2 (G256R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 975904	NM_172107.4(KCNQ2):c.757G>T (p.Ala253Ser)	KCNQ2 (A253S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GPathogenic
Select item 975869	NM_172107.4(KCNQ2):c.853C>T (p.Pro285Ser)	KCNQ2 (P285S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic

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