C0543888[trait identifier] AND "Neurogenetics Laboratory - MEYER, AOU - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375540	NM_000815.5(GABRD):c.1108G>A (p.Val370Ile)	GABRD (V370I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 265407	NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp)	ATP1A2 (R593W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 375510	NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile)	SCN2A (V251I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GPathogenic/Likely pathogenic
Select item 29888	NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)	SCN2A (A263V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +5 more	GPathogenic
Select item 375508	NM_001040142.2(SCN2A):c.2687C>T (p.Ala896Val)	SCN2A (A896V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GPathogenic/Likely pathogenic
Select item 206991	NM_001040142.2(SCN2A):c.3947C>T (p.Ala1316Val)	SCN2A (A1316V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 375509	NM_001040142.2(SCN2A):c.4031G>A (p.Cys1344Tyr)	SCN2A (C1344Y)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 375506	NM_001040142.2(SCN2A):c.4643T>C (p.Met1548Thr)	SCN2A (M1548T)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GLikely pathogenic
Select item 196039	NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)	SCN2A (R1882Q)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +4 more	GPathogenic/Likely pathogenic
Select item 375514	NM_001165963.4(SCN1A):c.4820_4821del (p.Ile1606_Phe1607insTer)	LOC102724058, SCN1A	Deletion (nonsense +1 more)	Epileptic encephalopathy	GPathogenic
Select item 375511	NM_001165963.4(SCN1A):c.1848G>C (p.Glu616Asp)	SCN1A (E616D +1 more)	Single nucleotide variant (missense variant +2 more)	Epileptic encephalopathy	GPathogenic
Select item 375529	NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp)	HCN1 (G391D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24 +1 more	GLikely pathogenic
Select item 375530	NM_021072.4(HCN1):c.459G>C (p.Met153Ile)	HCN1 (M153I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 375527	NM_006772.3(SYNGAP1):c.583G>C (p.Ala195Pro)	SYNGAP1 (A195P)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 375520	NM_001032221.6(STXBP1):c.57_59del (p.Ile19_Lys20delinsMet)	STXBP1	Deletion (inframe_indel)	Epileptic encephalopathy +1 more	GPathogenic
Select item 375545	Single allele	LOC114827831, STXBP1	Duplication	Epileptic encephalopathy	GPathogenic
Select item 207429	NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)	STXBP1 (R367* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability +7 more	GPathogenic
Select item 207431	NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)	STXBP1 (R406C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 375521	NM_001032221.6(STXBP1):c.1408G>T (p.Glu470Ter)	STXBP1 (E470* +3 more)	Single nucleotide variant (nonsense)	Epileptic encephalopathy	GPathogenic
Select item 375519	NM_001032221.6(STXBP1):c.1565G>A (p.Trp522Ter)	STXBP1 (W522* +3 more)	Single nucleotide variant (nonsense)	Epileptic encephalopathy	GPathogenic
Select item 207370	NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)	SPTAN1	Microsatellite (inframe_insertion)	Developmental and epileptic encephalopathy, 5 +2 more	GPathogenic/Likely pathogenic
Select item 375542	NM_020822.3(KCNT1):c.1799G>A (p.Arg600Gln)	KCNT1 (R600Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 375536	NM_000834.5(GRIN2B):c.43G>A (p.Val15Met)	GRIN2B (V15M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 375541	NM_001330260.2(SCN8A):c.920A>G (p.Asn307Ser)	SCN8A (N307S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 375522	NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly)	SCN8A (S978G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GPathogenic/Likely pathogenic
Select item 207119	NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)	SCN8A (G1475R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 253294	NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr)	SCN8A (A1650T +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GPathogenic
Select item 207131	NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)	SCN8A (R1872W +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 375531	NM_000814.6(GABRB3):c.761C>T (p.Ser254Phe)	GABRB3 (S254F +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +2 more	GPathogenic/Likely pathogenic
Select item 375532	NM_000814.6(GABRB3):c.372A>C (p.Leu124Phe)	GABRB3 (L124F +2 more)	Single nucleotide variant (missense variant +1 more)	Epileptic encephalopathy +2 more	GPathogenic/Likely pathogenic
Select item 375535	NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser)	GRIN2A (N989S)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +2 more	GConflicting classifications of pathogenicity
Select item 375533	NM_001134407.3(GRIN2A):c.1138A>G (p.Asn380Asp)	GRIN2A (N380D)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 21769	NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln)	KCNQ2 (R581Q +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
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 205886	NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)	KCNQ2 (A294V)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 375517	NM_172107.4(KCNQ2):c.873G>T (p.Arg291Ser)	KCNQ2 (R291S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 369763	NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe)	KCNQ2 (L268F)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic/Likely pathogenic
Select item 375518	NM_172107.4(KCNQ2):c.798T>A (p.Asp266Glu)	KCNQ2 (D266E)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GPathogenic
Select item 375539	NM_001242896.3(DEPDC5):c.2183_2185delinsTCT (p.Ser728_Ala729delinsPheSer)	DEPDC5	Indel (missense variant +2 more)	Epileptic encephalopathy	GUncertain significance
Select item 143827	NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)	CDKL5 (S196L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +4 more	GPathogenic/Likely pathogenic
Select item 189554	NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs)	CDKL5 (E416fs)	Microsatellite (frameshift variant)	CDKL5 disorder	GPathogenic FDA Recognized database
Select item 375524	NM_001323289.2(CDKL5):c.1449_1452dup (p.Lys485fs)	CDKL5 (K485fs)	Duplication (frameshift variant)	Epileptic encephalopathy	GPathogenic
Select item 375543	NM_000330.4(RS1):c.185-3260C>T	CDKL5, RS1 (G994R)	Single nucleotide variant (missense variant +1 more)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 375544	NM_001110792.2(MECP2):c.63-2890_517del	MECP2	Deletion (splice acceptor variant +2 more)	Epileptic encephalopathy	GPathogenic

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Items: 44