"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1022468	NM_172107.4(KCNQ2):c.1720G>A (p.Gly574Ser)	KCNQ2 (G543S +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +1 more	GPathogenic/Likely pathogenic
Select item 205915	NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)	KCNQ2 (R560W +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 21759	NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs)	KCNQ2 (K398fs +1 more)	Deletion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
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 976093	NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter)	KCNQ2 (Y363*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 976330	NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met)	KCNQ2 (T359M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 975417	NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile)	KCNQ2 (T349I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 976423	NM_172107.4(KCNQ2):c.1022A>G (p.Gln341Arg)	KCNQ2 (Q341R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +1 more	GConflicting classifications of pathogenicity
Select item 1329944	NM_172107.4(KCNQ2):c.936G>T (p.Leu312Phe)	KCNQ2 (L312F)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 1	GLikely pathogenic
Select item 7382	NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr)	KCNQ2 (A306T)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 369770	NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)	KCNQ2 (G301S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +3 more	GPathogenic
Select item 975869	NM_172107.4(KCNQ2):c.853C>T (p.Pro285Ser)	KCNQ2 (P285S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +1 more	GPathogenic/Likely 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 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 373573	NM_172107.4(KCNQ2):c.776A>G (p.Asp259Gly)	KCNQ2 (D259G)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 369761	NM_172107.4(KCNQ2):c.757G>A (p.Ala253Thr)	KCNQ2 (A253T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 21795	NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)	KCNQ2 (R213W)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 1 +4 more	GPathogenic
Select item 7386	NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp)	KCNQ2 (R207W)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 369753	NM_172107.4(KCNQ2):c.602G>A (p.Arg201His)	KCNQ2 (R201H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 205867	NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)	KCNQ2 (R198Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic
Select item 982654	NM_172107.4(KCNQ2):c.584C>G (p.Ser195Cys)	KCNQ2 (S195C)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 809271	NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr)	KCNQ2 (A185T)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 1 +3 more	GConflicting classifications of pathogenicity
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 976136	NM_172107.4(KCNQ2):c.297-1G>C	KCNQ2	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1330184	GRCh37/hg19 20q13.33(chr20:61828010-62324686)x1	ARFGAP1, BIRC7 +14 more	Copy number loss	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 3358977	NM_172107.4(KCNQ2):c.2118del (p.Ala707fs)	KCNQ2 (A676fs +4 more)	Deletion (frameshift variant)	Seizures, benign familial neonatal, 1	GPathogenic

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Items: 31