Related gene-specific medical variations for Gene (Select 6326) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247242	NC_000002.11:g.(?_166231283)_(166236819_?)del	SCN2A	Deletion	Seizures, benign familial infantile, 3 +1 more	GLikely pathogenic
Select item 3247241	NC_000002.11:g.(?_166237082)_(166237727_?)dup	SCN2A	Duplication	Seizures, benign familial infantile, 3 +1 more	GPathogenic
Select item 3247240	NC_000002.11:g.(?_166229715)_(166237727_?)del	SCN2A	Deletion	Seizures, benign familial infantile, 3 +1 more	GPathogenic
Select item 3247239	NC_000002.11:g.(?_166198786)_(166201441_?)del	SCN2A	Deletion	Seizures, benign familial infantile, 3 +1 more	GPathogenic
Select item 3238770	NM_001040142.2(SCN2A):c.4481A>G (p.Gln1494Arg)	SCN2A (Q1494R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
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 2627077	NM_001040142.2(SCN2A):c.4191G>C (p.Arg1397Ser)	SCN2A (R1397S)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 2580917	NM_001040142.2(SCN2A):c.2977G>C (p.Ala993Pro)	SCN2A (A993P)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 2579150	NM_001040142.2(SCN2A):c.4096T>C (p.Cys1366Arg)	SCN2A (C1366R)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GLikely pathogenic
Select item 2576043	NM_001040142.2(SCN2A):c.3700C>T (p.Gln1234Ter)	SCN2A (Q1234*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2575945	NM_001040142.2(SCN2A):c.1027G>A (p.Asp343Asn)	SCN2A (D343N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2435690	NM_001040142.2(SCN2A):c.4160A>G (p.Lys1387Arg)	SCN2A (K1387R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435689	NM_001040142.2(SCN2A):c.2617A>C (p.Ile873Leu)	SCN2A (I873L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435688	NM_001040142.2(SCN2A):c.4705G>A (p.Val1569Met)	SCN2A (V1569M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435686	NM_001040142.2(SCN2A):c.710T>G (p.Ile237Ser)	SCN2A (I237S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435685	NM_001040142.2(SCN2A):c.1907C>T (p.Pro636Leu)	SCN2A (P636L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435684	NM_001040142.2(SCN2A):c.2654_2671del (p.Thr885_Ile890del)	SCN2A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2435683	NM_001040142.2(SCN2A):c.1900G>T (p.Val634Leu)	SCN2A (V634L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435682	NM_001040142.2(SCN2A):c.2779G>T (p.Asp927Tyr)	SCN2A (D927Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435681	NM_001040142.2(SCN2A):c.3524G>A (p.Cys1175Tyr)	SCN2A (C1175Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435680	NM_001040142.2(SCN2A):c.3285T>A (p.Phe1095Leu)	SCN2A (F1095L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430062	NM_001040142.2(SCN2A):c.1800del (p.Phe601fs)	SCN2A (F601fs)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 1809730	NM_001040142.2(SCN2A):c.4907T>C (p.Ile1636Thr)	SCN2A (I1636T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1803063	NM_001040142.2(SCN2A):c.4622T>A (p.Ile1541Asn)	SCN2A (I1541N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 1803062	NM_001040142.2(SCN2A):c.819C>A (p.Asn273Lys)	SCN2A (N273K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 1803061	NM_001040142.2(SCN2A):c.4426T>A (p.Phe1476Ile)	SCN2A (F1476I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 1803060	NM_001040142.2(SCN2A):c.4499C>T (p.Ala1500Val)	SCN2A (A1500V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 1803059	NM_001040142.2(SCN2A):c.183_184insA (p.Leu62fs)	SCN2A (L62fs)	Insertion (frameshift variant)	Non-syndromic intellectual disability	GPathogenic
Select item 1803058	NM_001040142.2(SCN2A):c.3676-7C>G	SCN2A	Single nucleotide variant (intron variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1708037	NM_001040142.2(SCN2A):c.2909G>C (p.Gly970Ala)	SCN2A (G970A)	Single nucleotide variant (missense variant)	benign sporadic neonatal-infantile epilepsy	GLikely pathogenic
Select item 1708036	NM_001040142.2(SCN2A):c.1157G>A (p.Trp386Ter)	SCN2A (W386*)	Single nucleotide variant (nonsense)	unclassified developmental and epileptic encephalopathy +1 more	GPathogenic
Select item 1708035	NM_001040142.2(SCN2A):c.3945A>T (p.Arg1315Ser)	SCN2A (R1315S)	Single nucleotide variant (missense variant)	Infantile spasms	GLikely pathogenic
Select item 1708034	NM_001040142.2(SCN2A):c.4966T>C (p.Ser1656Pro)	SCN2A (S1656P)	Single nucleotide variant (missense variant)	unclassified developmental and epileptic encephalopathy	GLikely pathogenic
Select item 1708033	NM_001040142.2(SCN2A):c.5350G>A (p.Glu1784Lys)	SCN2A (E1784K)	Single nucleotide variant (missense variant)	benign sporadic infantile epilepsy	GLikely pathogenic
Select item 1708032	NM_001040142.2(SCN2A):c.2896G>C (p.Val966Leu)	SCN2A (V966L)	Single nucleotide variant (missense variant)	Epilepsy of infancy with migrating focal seizures	GLikely pathogenic
Select item 1708031	NM_001040142.2(SCN2A):c.2815C>G (p.Leu939Val)	SCN2A (L939V)	Single nucleotide variant (missense variant)	Infantile spasms	GLikely pathogenic
Select item 1703351	NM_001040142.2(SCN2A):c.-51-1737_-51-1735del	SCN2A, LOC120977013	Deletion (intron variant)	not provided	GLikely benign
Select item 1701637	NM_001040142.2(SCN2A):c.1058G>A (p.Cys353Tyr)	SCN2A (C353Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GUncertain significance
Select item 1700159	NM_001040142.2(SCN2A):c.1412C>G (p.Ser471Ter)	SCN2A (S471*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GLikely pathogenic
Select item 1699940	NM_001040142.2:c.(2388+1_2389-1)_(3849+1_3850-1)	SCN2A	Variation	Seizure	GPathogenic
Select item 1696611	NM_001040142.2(SCN2A):c.386+3535C>A	SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 1676329	NM_021007.3(SCN2A):c.5249C>A (p.Ser1750Tyr)	SCN2A (S1750Y)	Single nucleotide variant	not provided	GUncertain significance
Select item 1526931	GRCh37/hg19 2q24.3(chr2:166181967-166210982)	SCN2A	Copy number gain	not specified	GUncertain significance
Select item 1341827	NM_001040142.2(SCN2A):c.970+6A>T	SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 1325039	NM_001040142.2(SCN2A):c.5308A>C (p.Met1770Leu)	SCN2A (M1770L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1323562	NM_001040142.2(SCN2A):c.4446+1A>G	SCN2A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1245138	NM_001040142.2(SCN2A):c.-51-1983G>C	LOC120977013, SCN2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 996766	NM_001040142.2(SCN2A):c.638T>G (p.Val213Gly)	SCN2A (V213G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 994227	NM_001040142.2(SCN2A):c.3399+1G>A	SCN2A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 986850	NM_001040142.2(SCN2A):c.730T>C (p.Ser244Pro)	SCN2A (S244P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 986824	NM_001040142.2(SCN2A):c.1119del (p.Leu375fs)	SCN2A (L375fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 986823	NM_001040142.2(SCN2A):c.638T>A (p.Val213Asp)	SCN2A (V213D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 979196	NM_001040142.2(SCN2A):c.4895G>T (p.Arg1632Met)	SCN2A (R1632M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 932060	NM_001040142.2(SCN2A):c.4801G>A (p.Val1601Met)	SCN2A (V1601M)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GLikely pathogenic
Select item 930759	NM_001040142.2(SCN2A):c.5995G>T (p.Asp1999Tyr)	SCN2A (D1999Y)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 930427	NM_001040142.2(SCN2A):c.5958T>A (p.Phe1986Leu)	SCN2A (F1986L)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GUncertain significance
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 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 872403	NM_001040142.2(SCN2A):c.2621T>C (p.Ile874Thr)	SCN2A (I874T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 872402	NM_001040142.2(SCN2A):c.2217G>A (p.Trp739Ter)	SCN2A (W739*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 808847	NM_001040142.2(SCN2A):c.3019G>A (p.Val1007Met)	SCN2A (V1007M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546872	NM_001040142.2(SCN2A):c.413C>G (p.Thr138Arg)	SCN2A (T138R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 520403	NM_001040142.2(SCN2A):c.788C>A (p.Ala263Glu)	SCN2A (A263E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 493290	NM_001040142.2(SCN2A):c.5545G>C (p.Gly1849Arg)	SCN2A (G1849R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446423	NM_001040142.2(SCN2A):c.1563_1564del (p.Asp521fs)	SCN2A (D521fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 443214	GRCh37/hg19 2q24.3(chr2:166175328-166219034)x1	SCN2A	Copy number loss	See cases	GLikely pathogenic
Select item 425222	NM_001040142.2(SCN2A):c.4551+8T>A	SCN2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 377037	NM_001040142.2(SCN2A):c.2044A>G (p.Lys682Glu)	SCN2A (K682E)	Single nucleotide variant (missense variant)	not provided	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 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)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 253453	GRCh37/hg19 2q24.3(chr2:166094617-166246621)x3	SCN2A	Copy number gain	See cases	GPathogenic

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Items: 77