ClinVar for PubMed (Select 27535030) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from PubMed

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1962872	NM_172107.4(KCNQ2):c.943G>A (p.Gly315Arg)	KCNQ2 (G315R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1368712	NM_172107.4(KCNQ2):c.2032del (p.Glu678fs)	KCNQ2 (E647fs +4 more)	Deletion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1067611	NC_000020.10:g.(?_62050952)_(62078210_?)del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 1066055	NM_172107.4(KCNQ2):c.917C>A (p.Ala306Glu)	KCNQ2 (A306E)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 852143	NM_172107.4(KCNQ2):c.777C>A (p.Asp259Glu)	KCNQ2 (D259E)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 692196	NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn)	KCNQ2 (D259N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 369763	NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe)	KCNQ2 (L268F)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 369753	NM_172107.4(KCNQ2):c.602G>A (p.Arg201His)	KCNQ2 (R201H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 219241	NM_172107.4(KCNQ2):c.319C>T (p.Leu107Phe)	KCNQ2 (L107F)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 219235	NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)	KCNQ2 (A306V)	Single nucleotide variant (missense variant)	KCNQ2-Related Disorders +5 more	GPathogenic
Select item 205913	NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)	KCNQ2 (R553W +3 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 1 +4 more	GPathogenic
Select item 205869	NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)	KCNQ2 (R201C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 197891	NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)	KCNQ2 (A265T)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 167208	NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)	KCNQ2 (T274M)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic/Likely pathogenic
Select item 120176	NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)	KCNQ2 (A265V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 21767	NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln)	KCNQ2 (R553Q +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 7390	NM_172107.4(KCNQ2):c.2127del (p.Val710fs)	KCNQ2 (V710fs +3 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 7382	NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr)	KCNQ2 (A306T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic