ClinVar for Gene (Select 6326) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370069	NM_001040142.2(SCN2A):c.1435G>A (p.Gly479Arg)	SCN2A (G479R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369653	NM_001040142.2(SCN2A):c.154C>T (p.Pro52Ser)	SCN2A (P52S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369190	NM_001040142.2(SCN2A):c.4357T>G (p.Phe1453Val)	SCN2A (F1453V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369098	NM_001040142.2(SCN2A):c.5257A>G (p.Ile1753Val)	SCN2A (I1753V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369068	NM_001040142.2(SCN2A):c.1207A>G (p.Ile403Val)	SCN2A (I403V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368967	NM_001040142.2(SCN2A):c.880T>C (p.Ser294Pro)	SCN2A (S294P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368750	NM_001040142.2(SCN2A):c.136G>T (p.Asp46Tyr)	SCN2A (D46Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368729	NM_001040142.2(SCN2A):c.930A>G (p.Thr310=)	SCN2A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3368097	NM_001040142.2(SCN2A):c.3038G>A (p.Gly1013Glu)	SCN2A (G1013E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367449	NM_001040142.2(SCN2A):c.1427G>T (p.Gly476Val)	SCN2A (G476V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367350	NM_001040142.2(SCN2A):c.2056A>G (p.Ser686Gly)	SCN2A (S686G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367196	NM_001040142.2(SCN2A):c.4987_4996del (p.Ile1663fs)	SCN2A (I1663fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 11	GPathogenic
Select item 3367182	NM_001040142.2(SCN2A):c.4418T>A (p.Ile1473Lys)	SCN2A (I1473K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 3367068	NM_001040142.2(SCN2A):c.5011A>T (p.Met1671Leu)	SCN2A (M1671L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GUncertain significance
Select item 3366956	NM_001040142.2(SCN2A):c.605+1G>C	SCN2A	Single nucleotide variant (splice donor variant)	Seizures, benign familial infantile, 3 +2 more	GPathogenic
Select item 3366179	NM_001040142.2(SCN2A):c.89C>G (p.Ala30Gly)	SCN2A (A30G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366127	NM_001040142.2(SCN2A):c.2881A>T (p.Thr961Ser)	SCN2A (T961S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365702	NM_001040142.2(SCN2A):c.1343A>G (p.Gln448Arg)	SCN2A (Q448R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365539	NM_001040142.2(SCN2A):c.3110A>G (p.Asp1037Gly)	SCN2A (D1037G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364555	NM_001040142.2(SCN2A):c.4609A>G (p.Ile1537Val)	SCN2A (I1537V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363670	NM_001040142.2(SCN2A):c.83G>T (p.Arg28Leu)	SCN2A (R28L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362493	NM_001040142.2(SCN2A):c.1688G>A (p.Arg563His)	SCN2A (R563H)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9	GUncertain significance
Select item 3362127	NM_001040142.2(SCN2A):c.1727G>T (p.Ser576Ile)	SCN2A (S576I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362068	NM_001040142.2(SCN2A):c.2927A>C (p.Asn976Thr)	SCN2A (N976T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361996	NM_001040142.2(SCN2A):c.4714G>T (p.Val1572Phe)	SCN2A (V1572F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361023	NM_001040142.2(SCN2A):c.5495C>A (p.Ala1832Glu)	SCN2A (A1832E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358924	NM_001040142.2(SCN2A):c.698-2A>C	SCN2A	Single nucleotide variant (splice acceptor variant)	Complex neurodevelopmental disorder	GLikely pathogenic
Select item 3349133	NM_001040142.2(SCN2A):c.4004C>A (p.Pro1335Gln)	SCN2A (P1335Q)	Single nucleotide variant (missense variant)	SCN2A-related disorder	GLikely pathogenic
Select item 3349029	NM_001040142.2(SCN2A):c.1541C>G (p.Ser514Cys)	SCN2A (S514C)	Single nucleotide variant (missense variant)	SCN2A-related disorder	GUncertain significance
Select item 3348593	NM_001040142.2(SCN2A):c.5213C>T (p.Pro1738Leu)	SCN2A (P1738L)	Single nucleotide variant (missense variant)	SCN2A-related disorder	GUncertain significance
Select item 3347261	NM_001040142.2(SCN2A):c.901G>T (p.Asp301Tyr)	SCN2A (D301Y)	Single nucleotide variant (missense variant)	SCN2A-related disorder	GUncertain significance
Select item 3345951	NM_001040142.2(SCN2A):c.4987A>C (p.Ile1663Leu)	SCN2A (I1663L)	Single nucleotide variant (missense variant)	SCN2A-related disorder	GUncertain significance
Select item 3345412	NM_001040142.2(SCN2A):c.1421_1422delinsAA (p.Phe474Ter)	SCN2A (F474*)	Indel (nonsense)	SCN2A-related disorder	GLikely pathogenic
Select item 3344178	NM_001040142.2(SCN2A):c.2728dup (p.Cys910fs)	SCN2A (C910fs)	Duplication (frameshift variant)	SCN2A-related disorder	GLikely pathogenic
Select item 3344120	NM_001040142.2(SCN2A):c.3628T>C (p.Phe1210Leu)	SCN2A (F1210L)	Single nucleotide variant (missense variant)	SCN2A-related disorder	GUncertain significance
Select item 3343696	NM_001040142.2(SCN2A):c.468G>C (p.Lys156Asn)	SCN2A (K156N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3343633	NM_001040142.2(SCN2A):c.3122C>T (p.Pro1041Leu)	SCN2A (P1041L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3343104	NM_001040142.2(SCN2A):c.482C>T (p.Thr161Ile)	SCN2A (T161I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342714	NM_001040142.2(SCN2A):c.2167C>T (p.Gln723Ter)	SCN2A (Q723*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3342085	NM_001040142.2(SCN2A):c.5571C>T (p.Ile1857=)	SCN2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341421	NM_001040142.2(SCN2A):c.2714A>C (p.Lys905Thr)	SCN2A (K905T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GUncertain significance
Select item 3340996	NM_001040142.2(SCN2A):c.386+4T>C	SCN2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3340847	NM_001040142.2(SCN2A):c.468G>T (p.Lys156Asn)	SCN2A (K156N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3340833	NM_001040142.2(SCN2A):c.2914C>G (p.Leu972Val)	SCN2A (L972V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3340818	NM_001040142.2(SCN2A):c.3521-1G>T	SCN2A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3340350	NM_001040142.2(SCN2A):c.959T>C (p.Ile320Thr)	SCN2A (I320T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338177	NM_001040142.2(SCN2A):c.2654C>A (p.Thr885Asn)	SCN2A (T885N)	Single nucleotide variant (missense variant)	Autism	GLikely pathogenic
Select item 3337548	NM_001040142.2(SCN2A):c.4563del (p.Gly1522fs)	SCN2A (G1522fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3336406	NC_000002.11:g.(166150646_166152282)_(166198980_166201064)del	SCN2A	Deletion	Developmental and epileptic encephalopathy, 11	GPathogenic
Select item 3316556	NM_001040142.2(SCN2A):c.3815A>G (p.Asn1272Ser)	SCN2A (N1272S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316555	NM_001040142.2(SCN2A):c.3272A>T (p.Asp1091Val)	SCN2A (D1091V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316554	NM_001040142.2(SCN2A):c.211C>T (p.Pro71Ser)	SCN2A (P71S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316553	NM_001040142.2(SCN2A):c.2692G>A (p.Val898Ile)	SCN2A (V898I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3258114	NM_001040142.2(SCN2A):c.1175del (p.Leu392fs)	SCN2A (L392fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 11	GPathogenic
Select item 3258100	NM_001040142.2(SCN2A):c.4060dup (p.Met1354fs)	SCN2A (M1354fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 3256902	NM_001040142.2(SCN2A):c.970+4A>T	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11	GUncertain significance
Select item 3255242	NM_001040142.2(SCN2A):c.1672-2888T>C	SCN2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3254900	NM_001040142.2(SCN2A):c.3606T>G (p.Tyr1202Ter)	SCN2A (Y1202*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 11	GPathogenic
Select item 3252932	NM_001040142.2(SCN2A):c.3158T>C (p.Ile1053Thr)	SCN2A (I1053T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252526	NM_001040142.2(SCN2A):c.5719G>A (p.Val1907Met)	SCN2A (V1907M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252080	NM_001040142.2(SCN2A):c.4492del (p.Tyr1498fs)	SCN2A (Y1498fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 3251712	NM_001040142.2(SCN2A):c.1403C>G (p.Ser468Cys)	SCN2A (S468C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251093	NM_001040142.2(SCN2A):c.231C>T (p.Pro77=)	SCN2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3251044	NM_001371246.1(SCN2A):c.608A>G (p.Tyr203Cys)	SCN2A (Y203C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3250965	NM_001040142.2(SCN2A):c.4529A>T (p.Gln1510Leu)	SCN2A (Q1510L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250874	NM_001371246.1(SCN2A):c.670G>A (p.Ala224Thr)	SCN2A (A224T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
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 3242564	NM_001040142.2(SCN2A):c.4403del (p.Phe1468fs)	SCN2A (F1468fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 11	GPathogenic
Select item 3239400	NM_001040142.2(SCN2A):c.2202T>C (p.Asn734=)	SCN2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3236774	NM_001040142.2(SCN2A):c.1243T>C (p.Tyr415His)	SCN2A (Y415H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 3236457	NM_001040142.2(SCN2A):c.1111delinsTG (p.Ser371fs)	SCN2A (S371fs)	Indel (frameshift variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 3234649	NM_001040142.2(SCN2A):c.4279A>G (p.Ile1427Val)	SCN2A (I1427V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3158527	NM_001040142.2(SCN2A):c.866A>G (p.Glu289Gly)	SCN2A (E289G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158526	NM_001040142.2(SCN2A):c.579G>T (p.Trp193Cys)	SCN2A (W193C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158525	NM_001040142.2(SCN2A):c.4618C>T (p.Leu1540Phe)	SCN2A (L1540F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3158523	NM_001040142.2(SCN2A):c.3130G>C (p.Asp1044His)	SCN2A (D1044H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158521	NM_001040142.2(SCN2A):c.1632T>G (p.Ser544Arg)	SCN2A (S544R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158519	NM_001040142.2(SCN2A):c.1226T>C (p.Ile409Thr)	SCN2A (I409T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075958	NM_001040142.2(SCN2A):c.254A>G (p.Tyr85Cys)	SCN2A (Y85C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068679	NM_001040142.2(SCN2A):c.3506C>G (p.Ala1169Gly)	SCN2A (A1169G)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GUncertain significance
Select item 3068356	NM_001040142.2(SCN2A):c.3626G>A (p.Trp1209Ter)	SCN2A (W1209*)	Single nucleotide variant (nonsense)	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 3066121	NM_001040142.2(SCN2A):c.4295_4297del (p.Val1432del)	SCN2A (V1432del)	Deletion (inframe deletion)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 3066036	NM_001040142.2(SCN2A):c.526G>C (p.Ala176Pro)	SCN2A (A176P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	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 3063771	NM_001040142.2(SCN2A):c.1165C>A (p.Leu389Ile)	SCN2A (L389I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062662	GRCh37/hg19 2q24.3-31.1(chr2:165813403-169865235)x1	ABCB11, B3GALT1 +14 more	Copy number loss	not specified	GPathogenic
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 3053550	NM_001040142.2(SCN2A):c.2938G>C (p.Ala980Pro)	SCN2A (A980P)	Single nucleotide variant (missense variant)	SCN2A-related disorder	GLikely pathogenic
Select item 3043732	NM_001040142.2(SCN2A):c.4447-10A>G	SCN2A	Single nucleotide variant (intron variant)	SCN2A-related disorder	GLikely benign
Select item 3031930	NM_001040142.2(SCN2A):c.5435T>A (p.Phe1812Tyr)	SCN2A (F1812Y)	Single nucleotide variant (missense variant)	SCN2A-related disorder	GLikely pathogenic
Select item 3027168	NM_001040142.2(SCN2A):c.4322C>G (p.Pro1441Arg)	SCN2A (P1441R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026693	NM_001040142.2(SCN2A):c.3533A>T (p.Lys1178Met)	SCN2A (K1178M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026212	NM_001040142.2(SCN2A):c.2151A>G (p.Glu717=)	SCN2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026109	NM_001040142.2(SCN2A):c.161G>A (p.Ser54Asn)	SCN2A (S54N)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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