C0036572[trait identifier] AND "Diagnostic Laboratory, Strasbourg Univ - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 279981	NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)	KCNH1 (R357Q +1 more)	Single nucleotide variant (missense variant)	KCNH1-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 1701082	NM_006593.4(TBR1):c.581C>T (p.Ser194Phe)	TBR1 (S194F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701080	NM_006922.4(SCN3A):c.4318G>A (p.Glu1440Lys)	SCN3A (E1391K +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701079	NM_006922.4(SCN3A):c.2264T>C (p.Leu755Ser)	SCN3A (L706S +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 12879	NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln)	SCN2A (R223Q)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic/Likely pathogenic
Select item 1015785	NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile)	SCN2A (T885I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +2 more	GConflicting classifications of pathogenicity
Select item 870749	NM_001165963.4(SCN1A):c.5691T>G (p.Asn1897Lys)	LOC102724058, SCN1A (N1083K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 871605	NM_001165963.4(SCN1A):c.3641T>C (p.Ile1214Thr)	LOC102724058, SCN1A (I1185T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1060427	NM_001165963.4(SCN1A):c.3158A>T (p.Asp1053Val)	LOC102724058, SCN1A (D1024V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1701073	NM_001165963.4(SCN1A):c.2868G>T (p.Met956Ile)	SCN1A (M142I +5 more)	Single nucleotide variant (missense variant +1 more)	Seizure	GLikely pathogenic
Select item 93639	NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)	SCN1A (R848H +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic
Select item 1701075	NM_001165963.4(SCN1A):c.2226del (p.Asn743fs)	SCN1A (N714fs +4 more)	Deletion (frameshift variant +2 more)	Seizure	GPathogenic
Select item 801809	NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala)	SCN1A (V671A)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1701077	NM_001165963.4(SCN1A):c.1439C>G (p.Ser480Ter)	SCN1A (S479* +1 more)	Single nucleotide variant (nonsense +2 more)	Seizure	GPathogenic
Select item 1701074	NM_001165963.4(SCN1A):c.1157dup (p.Asn386fs)	SCN1A (N386fs)	Duplication (frameshift variant +2 more)	Seizure	GPathogenic
Select item 189963	NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)	SCN1A (R377*)	Single nucleotide variant (nonsense +2 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 950975	NM_001165963.4(SCN1A):c.1100C>T (p.Thr367Ile)	SCN1A (T367I)	Single nucleotide variant (missense variant +2 more)	See cases +1 more	GUncertain significance
Select item 801815	NM_001165963.4(SCN1A):c.1028+1G>A	SCN1A	Single nucleotide variant (splice donor variant)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 426348	NM_001165963.4(SCN1A):c.607G>A (p.Val203Ile)	SCN1A (V203I)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 254362	NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)	NPRL2 (R34*)	Single nucleotide variant (nonsense)	Epilepsy, familial focal, with variable foci 2 +2 more	GConflicting classifications of pathogenicity
Select item 1701069	NM_000944.5(PPP3CA):c.760del (p.Arg254fs)	PPP3CA (R254fs)	Deletion (frameshift variant)	Seizure	GUncertain significance
Select item 1701056	NM_021072.4(HCN1):c.1618+2T>A	HCN1	Single nucleotide variant (splice donor variant)	Seizure	GUncertain significance
Select item 1701055	NM_021072.4(HCN1):c.1606T>G (p.Ser536Ala)	HCN1 (S536A)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1053011	NM_021072.4(HCN1):c.809G>A (p.Arg270Gln)	HCN1 (R270Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1701063	NM_005654.6(NR2F1):c.278C>T (p.Ser93Leu)	NR2F1, NR2F1-AS1 (S93L)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 1701051	NM_198904.4(GABRG2):c.626C>A (p.Ser209Tyr)	GABRG2 (S114Y +5 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 217024	NM_001069.3(TUBB2A):c.872A>C (p.Gln291Pro)	TUBB2A (Q291P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1701035	NM_012479.4(YWHAG):c.225T>G (p.Asn75Lys)	YWHAG (N75K)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701071	NM_005045.4(RELN):c.4067A>C (p.Glu1356Ala)	RELN (E1356A)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 208481	NM_005045.4(RELN):c.2015C>T (p.Pro672Leu)	RELN (P672L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1701059	NM_004519.4(KCNQ3):c.509A>G (p.Glu170Gly)	KCNQ3 (E170G +1 more)	Single nucleotide variant (missense variant)	Seizure	GPathogenic
Select item 1352898	NM_006914.4(RORB):c.515T>A (p.Met172Lys)	RORB (M172K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207415	NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)	STXBP1 (P139L +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GPathogenic/Likely pathogenic
Select item 39595	NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)	KCNT1 (R474H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 439289	NM_000314.8(PTEN):c.309del (p.Cys105fs)	PTEN (C105fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1701057	NM_001112741.2(KCNC1):c.1595T>A (p.Leu532Gln)	KCNC1 (L532Q)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701083	NM_006009.4(TUBA1A):c.848A>G (p.His283Arg)	TUBA1A (H248R +1 more)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 857965	NM_001330260.2(SCN8A):c.1193G>C (p.Gly398Ala)	SCN8A (G398A)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 836368	NM_001330260.2(SCN8A):c.4948G>T (p.Ala1650Ser)	SCN8A (A1650S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 130252	NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	SCN8A (N1877S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +4 more	GConflicting classifications of pathogenicity
Select item 1701036	NM_001845.6(COL4A1):c.1190G>A (p.Gly397Glu)	COL4A1 (G397E)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 1012379	NM_001271.4(CHD2):c.1934C>T (p.Thr645Met)	CHD2 (T645M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 847490	NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu)	HBA-LCR, NPRL3 (P302L +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GConflicting classifications of pathogenicity
Select item 580189	NM_001077350.3(NPRL3):c.767+1G>T	HBA-LCR, NPRL3	Single nucleotide variant (splice donor variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 96494	NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)	MVP-DT, PRRT2 (P216L)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 2 +6 more	GBenign/Likely benign
Select item 279678	NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	ANKRD11 (K635fs)	Microsatellite (frameshift variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 1701062	NM_001144967.3(NEDD4L):c.1402C>T (p.Arg468Trp)	NEDD4L (R327W +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1701054	NM_001194.4(HCN2):c.1417C>T (p.Arg473Trp)	HCN2 (R473W)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701053	NM_000836.4(GRIN2D):c.655G>C (p.Gly219Arg)	GRIN2D (G219R)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 523478	NM_004975.4(KCNB1):c.935G>A (p.Arg312His)	KCNB1 (R312H)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 1701042	NM_001282531.3(ADNP):c.1084C>G (p.Gln362Glu)	ADNP (Q362E)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701058	NM_172107.4(KCNQ2):c.2363T>C (p.Ile788Thr)	KCNQ2 (I757T +4 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 282026	NM_172107.4(KCNQ2):c.1887+5G>A	KCNQ2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 372677	NM_172107.4(KCNQ2):c.1679G>A (p.Arg560Gln)	KCNQ2 (R560Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 21755	NM_172107.4(KCNQ2):c.1016T>G (p.Leu339Arg)	KCNQ2 (L339R)	Single nucleotide variant (missense variant)	Seizure	GPathogenic
Select item 369769	NM_172107.4(KCNQ2):c.886A>C (p.Thr296Pro)	KCNQ2 (T296P)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 120176	NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)	KCNQ2 (A265V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +5 more	GPathogenic/Likely pathogenic
Select item 1326326	NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe)	KCNQ2 (S223F)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 1 +2 more	GPathogenic/Likely pathogenic
Select item 1701047	NM_001958.5(EEF1A2):c.1261C>T (p.Leu421Phe)	EEF1A2 (L421F)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 162152	NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)	DYRK1A (R255* +2 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 162161	NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs)	DYRK1A (R375fs +2 more)	Duplication (frameshift variant)	Intellectual disability	GPathogenic
Select item 50824	NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter)	DEPDC5 (R239* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1701044	NM_001242896.3(DEPDC5):c.3264+1G>C	DEPDC5	Single nucleotide variant (splice donor variant)	Seizure	GLikely pathogenic
Select item 264741	NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter)	DEPDC5 (R1168* +6 more)	Single nucleotide variant (nonsense +1 more)	Familial focal epilepsy with variable foci +2 more	GPathogenic
Select item 948433	NM_139058.3(ARX):c.794G>A (p.Arg265His)	ARX (R265H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 1701076	NM_001367721.1(CASK):c.1847A>G (p.Tyr616Cys)	CASK (Y587C +3 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 537749	NM_001367721.1(CASK):c.1408G>A (p.Gly470Ser)	CASK (G470S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked +1 more	GUncertain significance
Select item 1701065	NM_002547.3(OPHN1):c.1045C>T (p.Gln349Ter)	OPHN1 (Q349*)	Single nucleotide variant (nonsense)	Seizure	GPathogenic
Select item 158477	NM_001195553.2(DCX):c.557G>A (p.Arg186His)	DCX (R186H +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation +2 more	GConflicting classifications of pathogenicity
Select item 66086	NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)	ALG13 (N107S +3 more)	Single nucleotide variant (missense variant +2 more)	Seizure +4 more	GPathogenic
Select item 1701050	NM_001099922.3(ALG13):c.1730-4A>T	ALG13	Single nucleotide variant (intron variant)	Seizure	GUncertain significance
Select item 1701039	NM_001079872.2(CUL4B):c.1121A>G (p.Glu374Gly)	CUL4B (E196G +3 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 981267	NM_007325.5(GRIA3):c.1888G>A (p.Gly630Arg)	GRIA3 (G630R)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GPathogenic
Select item 280541	NM_001110792.2(MECP2):c.1122dup (p.Lys375fs)	MECP2 (K270fs +3 more)	Duplication (frameshift variant)	X-linked intellectual disability-psychosis-macroorchidism syndrome +3 more	GPathogenic
Select item 1701048	NM_001110556.2(FLNA):c.7775T>G (p.Val2592Gly)	FLNA, LOC107988032 (V2584G +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance

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Items: 75