ClinVar for MedGen (Select 1714171) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068290	NM_001040142.2(SCN2A):c.701T>G (p.Leu234Arg)	SCN2A (L234R)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9	GUncertain significance
Select item 3065413	NM_001040142.2(SCN2A):c.4952T>G (p.Phe1651Cys)	SCN2A (F1651C)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9	GLikely pathogenic
Select item 3064476	NM_001040142.2(SCN2A):c.2296A>C (p.Thr766Pro)	SCN2A (T766P)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9	GUncertain significance
Select item 3024239	NM_001040142.2(SCN2A):c.4309-2A>G	SCN2A	Single nucleotide variant (splice acceptor variant)	Episodic ataxia, type 9 +2 more	GLikely pathogenic
Select item 2943871	NM_001040142.2(SCN2A):c.4623C>G (p.Ile1541Met)	SCN2A (I1541M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +2 more	GConflicting classifications of pathogenicity
Select item 2627658	NM_001040142.2(SCN2A):c.[4565G>C;5644C>G]	SCN2A (G1522A +1 more)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9	GPathogenic
Select item 2572541	NM_001040142.2(SCN2A):c.477-2A>G	SCN2A	Single nucleotide variant (splice acceptor variant)	Episodic ataxia, type 9	GLikely pathogenic
Select item 1707875	NM_001040142.2(SCN2A):c.1303A>G (p.Thr435Ala)	SCN2A (T435A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1704269	NM_001040142.2(SCN2A):c.4789T>C (p.Phe1597Leu)	SCN2A (F1597L)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9	GPathogenic
Select item 1704268	NM_001040142.2(SCN2A):c.781_782delinsTC (p.Val261Ser)	SCN2A (V261S)	Indel (missense variant)	Episodic ataxia, type 9	GLikely pathogenic
Select item 1345642	NM_001040142.2(SCN2A):c.1724C>T (p.Ala575Val)	SCN2A (A575V)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9 +2 more	GUncertain significance
Select item 1290972	NM_001040142.2(SCN2A):c.1671+49A>G	SCN2A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1235530	NM_001040142.2(SCN2A):c.268-28A>G	SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3 +3 more	GBenign
Select item 1054863	NM_001040142.2(SCN2A):c.3413C>G (p.Thr1138Ser)	SCN2A (T1138S)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GUncertain significance
Select item 1047612	NM_001040142.2(SCN2A):c.5278A>G (p.Ile1760Val)	SCN2A (I1760V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +2 more	GUncertain significance
Select item 988714	NM_001040142.2(SCN2A):c.1912del (p.Leu638fs)	SCN2A (L638fs)	Deletion (frameshift variant)	Episodic ataxia, type 9 +2 more	GLikely pathogenic
Select item 988710	NM_001040142.2(SCN2A):c.4822+1G>A	SCN2A	Single nucleotide variant (splice donor variant)	Episodic ataxia, type 9 +2 more	GLikely pathogenic
Select item 984895	NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter)	SCN2A (R607*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic
Select item 984815	NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp)	SCN2A (V198D)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GLikely pathogenic
Select item 976279	NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser)	SCN2A (F207S)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia, type 9 +1 more	GLikely pathogenic
Select item 946767	NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)	SCN2A (W281*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 11 +2 more	GPathogenic
Select item 944261	NM_001040142.2(SCN2A):c.5704C>T (p.Arg1902Cys)	SCN2A (R1902C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 932954	NM_001040142.2(SCN2A):c.4901G>A (p.Gly1634Asp)	SCN2A (G1634D)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9	GPathogenic
Select item 870747	NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro)	SCN2A (L1650P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 862884	NM_001040142.2(SCN2A):c.2021C>A (p.Thr674Lys)	SCN2A (T674K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +3 more	GUncertain significance
Select item 801777	NM_001040142.2(SCN2A):c.1384-2A>G	SCN2A	Single nucleotide variant (splice acceptor variant)	Episodic ataxia, type 9 +1 more	GLikely pathogenic
Select item 670685	NM_001040142.2(SCN2A):c.4255-31A>G	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11 +3 more	GBenign
Select item 647069	NM_001040142.2(SCN2A):c.1561G>C (p.Asp521His)	SCN2A (D521H)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9 +2 more	GConflicting classifications of pathogenicity
Select item 626164	NM_001040142.2(SCN2A):c.2149+3A>C	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11 +2 more	GUncertain significance
Select item 626163	NM_001371246.1(SCN2A):c.687T>C (p.Ser229=)	SCN2A	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 11 +3 more	GConflicting classifications of pathogenicity
Select item 626008	NM_001040142.2(SCN2A):c.4722C>A (p.Phe1574Leu)	SCN2A (F1574L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +2 more	GUncertain significance
Select item 590198	NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His)	SCN2A (R1918H)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +4 more	GConflicting classifications of pathogenicity
Select item 514940	NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del)	SCN2A (S468del)	Deletion (inframe_deletion)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 464907	NM_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp)	SCN2A (R1177W)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9 +4 more	GConflicting classifications of pathogenicity
Select item 464905	NM_001040142.2(SCN2A):c.3049G>C (p.Val1017Leu)	SCN2A (V1017L)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9 +3 more	GUncertain significance
Select item 410982	NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp)	SCN2A (R1319W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic/Likely pathogenic
Select item 379254	NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu)	SCN2A (R1319L)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9 +1 more	GPathogenic
Select item 378927	NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)	SCN2A (V261M)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GPathogenic
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 282579	NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)	SCN2A (R1918C)	Single nucleotide variant (missense variant)	SCN2A-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 261400	NM_001040142.2(SCN2A):c.1672-16C>T	SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3 +4 more	GBenign
Select item 207028	NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly)	SCN2A (R1882G)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GPathogenic
Select item 206988	NM_001040142.2(SCN2A):c.3485A>T (p.Glu1162Val)	SCN2A (E1162V)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9 +3 more	GConflicting classifications of pathogenicity
Select item 206987	NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)	SCN2A (E1153K)	Single nucleotide variant (missense variant)	SCN2A-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 206975	NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp)	SCN2A (G899D)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +3 more	GConflicting classifications of pathogenicity
Select item 139019	NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=)	SCN2A	Single nucleotide variant (synonymous variant)	SCN2A-related disorder +5 more	GBenign/Likely benign
Select item 139018	NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=)	SCN2A	Single nucleotide variant (synonymous variant)	SCN2A-related disorder +6 more	GBenign/Likely benign
Select item 130226	NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=)	SCN2A	Single nucleotide variant (synonymous variant)	SCN2A-related disorder +5 more	GBenign/Likely benign
Select item 130223	NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=)	SCN2A	Single nucleotide variant (synonymous variant)	Episodic ataxia, type 9 +4 more	GBenign
Select item 130219	NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)	SCN2A (K908R)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9 +5 more	GBenign/Likely benign
Select item 130218	NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=)	SCN2A	Single nucleotide variant (synonymous variant)	Episodic ataxia, type 9 +4 more	GBenign/Likely benign
Select item 130216	NM_001040142.2(SCN2A):c.1035-3T>C	SCN2A	Single nucleotide variant (intron variant)	Episodic ataxia, type 9 +5 more	GBenign
Select item 130211	NM_001040142.2(SCN2A):c.1269G>A (p.Val423=)	SCN2A	Single nucleotide variant (synonymous variant)	Episodic ataxia, type 9 +5 more	GConflicting classifications of pathogenicity
Select item 29888	NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)	SCN2A (A263V)	Single nucleotide variant (missense variant)	SCN2A-related disorder +5 more	GPathogenic
Select item 29885	NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter)	SCN2A (R102*)	Single nucleotide variant (nonsense)	Episodic ataxia, type 9 +3 more	GPathogenic
Select item 12878	NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile)	SCN2A (V892I)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic

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Items: 56