C1843140[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 331704	NM_001040142.2(SCN2A):c.-51-1925G>A	LOC120977013, SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 331705	NM_001040142.2(SCN2A):c.-51-1914C>T	LOC120977013, SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 331707	NM_001040142.2(SCN2A):c.-51-1737_-51-1735dup	LOC120977013, SCN2A	Duplication (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331706	NM_001040142.2(SCN2A):c.-51-1736_-51-1735dup	LOC120977013, SCN2A	Duplication (intron variant)	Seizures, benign familial infantile, 3 +2 more	GConflicting classifications of pathogenicity
Select item 894299	NM_001040142.2(SCN2A):c.-51-1762A>T	LOC120977013, SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 331709	NM_001040142.2(SCN2A):c.-51-1736_-51-1735del	LOC120977013, SCN2A	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331708	NM_001040142.2(SCN2A):c.-51-1735del	LOC120977013, SCN2A	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 894300	NM_001040142.2(SCN2A):c.-51-1758A>C	LOC120977013, SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 331710	NM_001040142.2(SCN2A):c.-51-1735_-51-1733del	SCN2A	Deletion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331711	NM_001040142.2(SCN2A):c.-51-1734_-51-1733del	SCN2A	Deletion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331715	NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAA	SCN2A	Insertion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331714	NM_001040142.2(SCN2A):c.-51-1733_-51-1732dup	SCN2A	Duplication (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331713	NM_001040142.2(SCN2A):c.-51-1734G>A	SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 331712	NM_001040142.2(SCN2A):c.-51-1734del	SCN2A	Deletion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 892840	NM_001040142.2(SCN2A):c.-51-1733A>T	SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 331724	NM_001040142.2(SCN2A):c.-51-1721_-51-1720dup	SCN2A	Duplication (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331723	NM_001040142.2(SCN2A):c.-51-1720dup	SCN2A	Duplication (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331722	NM_001040142.2(SCN2A):c.-51-1733_-51-1732insGATT	SCN2A	Insertion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331721	NM_001040142.2(SCN2A):c.-51-1733_-51-1732insGAT	SCN2A	Insertion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331720	NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAGATT	SCN2A	Insertion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331719	NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAATTT	SCN2A	Insertion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331718	NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAATT	SCN2A	Insertion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331717	NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAAT	SCN2A	Insertion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331716	NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAAAT	SCN2A	Insertion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331725	NM_001040142.2(SCN2A):c.-51-1729T>C	SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 331726	NM_001040142.2(SCN2A):c.-51-1652A>G	SCN2A	Single nucleotide variant (5 prime UTR variant +1 more)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 892841	NM_001040142.2(SCN2A):c.-42A>C	SCN2A	Single nucleotide variant (5 prime UTR variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 139022	NM_001040142.2(SCN2A):c.24G>A (p.Pro8=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +4 more	GConflicting classifications of pathogenicity
Select item 130224	NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys)	SCN2A (R19K)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 207033	NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys)	SCN2A (R28C)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +4 more	GBenign/Likely benign
Select item 207034	NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr)	SCN2A (A34T)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 893651	NM_001040142.2(SCN2A):c.122G>A (p.Arg41His)	SCN2A (R41H)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +3 more	GConflicting classifications of pathogenicity
Select item 130221	NM_001040142.2(SCN2A):c.387-10G>A	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11 +3 more	GBenign
Select item 893652	NM_001040142.2(SCN2A):c.609T>C (p.Tyr203=)	SCN2A	Single nucleotide variant (synonymous variant +1 more)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 893653	NM_001040142.2(SCN2A):c.681A>G (p.Thr227=)	SCN2A	Single nucleotide variant (synonymous variant +1 more)	Seizures, benign familial infantile, 3 +1 more	GLikely benign
Select item 416519	NM_001040142.2(SCN2A):c.879T>G (p.Thr293=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +2 more	GBenign/Likely benign
Select item 212132	NM_001040142.2(SCN2A):c.960T>C (p.Ile320=)	SCN2A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 206961	NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val)	SCN2A (F328V)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +4 more	GBenign/Likely benign
Select item 207047	NM_001040142.2(SCN2A):c.1035-15C>G	SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3 +2 more	GConflicting classifications of pathogenicity
Select item 130216	NM_001040142.2(SCN2A):c.1035-3T>C	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11 +5 more	GBenign
Select item 130211	NM_001040142.2(SCN2A):c.1269G>A (p.Val423=)	SCN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 139027	NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +4 more	GBenign/Likely benign
Select item 331727	NM_001040142.2(SCN2A):c.1441G>A (p.Gly481Arg)	SCN2A (G481R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 893935	NM_001040142.2(SCN2A):c.1542T>C (p.Ser514=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 212122	NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +3 more	GBenign/Likely benign
Select item 207064	NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu)	SCN2A (I587L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 130217	NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=)	SCN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign
Select item 130218	NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=)	SCN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 207068	NM_001040142.2(SCN2A):c.1939G>A (p.Ala647Thr)	SCN2A (A647T)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +3 more	GConflicting classifications of pathogenicity
Select item 139029	NM_001040142.2(SCN2A):c.1959G>A (p.Val653=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +5 more	GBenign/Likely benign
Select item 657970	NM_001040142.2(SCN2A):c.1976G>T (p.Gly659Val)	SCN2A (G659V)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GConflicting classifications of pathogenicity
Select item 207069	NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp)	SCN2A (G659D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 206962	NM_001040142.2(SCN2A):c.1984A>G (p.Thr662Ala)	SCN2A (T662A)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +3 more	GConflicting classifications of pathogenicity
Select item 894323	NM_001040142.2(SCN2A):c.2005C>T (p.Leu669Phe)	SCN2A (L669F)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GLikely benign
Select item 139032	NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=)	SCN2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 331728	NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn)	SCN2A (K682N)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GConflicting classifications of pathogenicity
Select item 588751	NM_001040142.2(SCN2A):c.2051G>A (p.Arg684Gln)	SCN2A (R684Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 331729	NM_001040142.2(SCN2A):c.2157A>G (p.Glu719=)	SCN2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 892875	NM_001040142.2(SCN2A):c.2175C>T (p.Cys725=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3	GBenign
Select item 241371	NM_001040142.2(SCN2A):c.2562+5A>G	SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3 +4 more	GBenign/Likely benign
Select item 892876	NM_001040142.2(SCN2A):c.2619C>A (p.Ile873=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 892877	NM_001040142.2(SCN2A):c.2664G>A (p.Leu888=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 212126	NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=)	SCN2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 130219	NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)	SCN2A (K908R)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 893689	NM_001040142.2(SCN2A):c.2766C>T (p.Arg922=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GConflicting classifications of pathogenicity
Select item 436655	NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +3 more	GConflicting classifications of pathogenicity
Select item 139009	NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +4 more	GConflicting classifications of pathogenicity
Select item 331730	NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn)	SCN2A (D1015N)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GConflicting classifications of pathogenicity
Select item 331731	NM_001040142.2(SCN2A):c.3123G>A (p.Pro1041=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +4 more	GBenign/Likely benign
Select item 139010	NM_001040142.2(SCN2A):c.3213A>C (p.Gly1071=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +3 more	GBenign/Likely benign
Select item 206985	NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +5 more	GBenign/Likely benign
Select item 139011	NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +4 more	GBenign/Likely benign
Select item 206987	NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)	SCN2A (E1153K)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +5 more	GConflicting classifications of pathogenicity
Select item 331732	NM_001040142.2(SCN2A):c.3521-15T>C	SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3 +1 more	GConflicting classifications of pathogenicity
Select item 139013	NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +4 more	GBenign/Likely benign
Select item 208771	NM_001040142.2(SCN2A):c.3637T>G (p.Phe1213Val)	SCN2A (F1213V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 331733	NM_001040142.2(SCN2A):c.3735T>C (p.Ala1245=)	SCN2A	Single nucleotide variant (synonymous variant)	Early Infantile Epileptic Encephalopathy, Autosomal Dominant +3 more	GLikely benign
Select item 331734	NM_001040142.2(SCN2A):c.4134C>T (p.Ser1378=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +1 more	GConflicting classifications of pathogenicity
Select item 331735	NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +2 more	GConflicting classifications of pathogenicity
Select item 139017	NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +4 more	GBenign/Likely benign
Select item 130214	NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)	SCN2A (G1522A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 894363	NM_001040142.2(SCN2A):c.4775T>C (p.Ile1592Thr)	SCN2A (I1592T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 130223	NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +4 more	GBenign
Select item 331736	NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=)	SCN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 331737	NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=)	SCN2A	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 139018	NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +6 more	GBenign/Likely benign
Select item 139019	NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +5 more	GBenign/Likely benign
Select item 331738	NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=)	SCN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 212130	NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=)	SCN2A	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 331739	NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=)	SCN2A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 331740	NM_001040142.2(SCN2A):c.5544T>C (p.Ser1848=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +1 more	GLikely benign
Select item 331741	NM_001040142.2(SCN2A):c.5620G>A (p.Ala1874Thr)	SCN2A (A1874T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 892916	NM_001040142.2(SCN2A):c.5677T>A (p.Tyr1893Asn)	SCN2A (Y1893N)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331742	NM_001040142.2(SCN2A):c.5788A>G (p.Ser1930Gly)	SCN2A (S1930G)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 130225	NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=)	SCN2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 130226	NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=)	SCN2A	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 206957	NM_001040142.2(SCN2A):c.5931T>C (p.Ser1977=)	SCN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 893725	NM_001040142.2(SCN2A):c.*47G>A	SCN2A	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 331743	NM_001040142.2(SCN2A):c.*47G>T	SCN2A	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 331744	NM_001040142.2(SCN2A):c.*88G>A	SCN2A	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial infantile, 3	GUncertain significance

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