ClinVar for MedGen (Select 934695) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238817	NM_001330260.2(SCN8A):c.4442T>A (p.Met1481Lys)	SCN8A (M1481K +1 more)	Single nucleotide variant (missense variant)	Myoclonus, familial, 2 +3 more	GLikely pathogenic
Select item 3238793	NM_001330260.2(SCN8A):c.677G>C (p.Arg226Pro)	SCN8A (R226P)	Single nucleotide variant (missense variant +1 more)	Seizures, benign familial infantile, 5 +3 more	GLikely pathogenic
Select item 3235701	NM_001330260.2(SCN8A):c.445A>G (p.Met149Val)	SCN8A (M149V)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5	GLikely pathogenic
Select item 3024271	NC_000012.11:g.52199766_52388207del	ACVR1B, ACVRL1 +3 more	Deletion	Seizures, benign familial infantile, 5 +3 more	GLikely pathogenic
Select item 2582519	NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)	SCN8A (S979N)	Indel (missense variant)	Myoclonus, familial, 2 +3 more	GLikely pathogenic
Select item 2582310	NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)	SCN8A (S1320C +1 more)	Single nucleotide variant (missense variant)	Myoclonus, familial, 2 +3 more	GUncertain significance
Select item 2580849	NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)	SCN8A (H559R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2501688	NM_001330260.2(SCN8A):c.4841C>A (p.Thr1614Asn)	SCN8A (T1573N +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5	GLikely pathogenic
Select item 2500085	NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)	SCN8A (G1873S +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +3 more	GUncertain significance
Select item 2441961	NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)	SCN8A (F1728L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +4 more	GUncertain significance
Select item 1696571	NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val)	SCN8A (D1082V)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +2 more	GUncertain significance
Select item 1679749	NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met)	SCN8A (L422M)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +3 more	GUncertain significance
Select item 1518887	NM_001330260.2(SCN8A):c.986A>G (p.Asp329Gly)	SCN8A (D329G)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +1 more	GConflicting classifications of pathogenicity
Select item 1465027	NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val)	SCN8A (I142V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1440273	NM_001330260.2(SCN8A):c.5872C>T (p.Gln1958Ter)	SCN8A (Q1958* +1 more)	Single nucleotide variant (nonsense)	Seizures, benign familial infantile, 5 +1 more	GUncertain significance
Select item 1406186	NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser)	SCN8A (P474S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GUncertain significance
Select item 1399415	NM_001330260.2(SCN8A):c.632T>G (p.Val211Gly)	SCN8A (V211G)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1371411	NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr)	SCN8A (A1046T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GUncertain significance
Select item 1342316	NM_001330260.2(SCN8A):c.2901+2T>C	SCN8A	Single nucleotide variant (splice donor variant)	Seizures, benign familial infantile, 5 +1 more	GPathogenic
Select item 1334502	NM_001330260.2(SCN8A):c.2824_2825insA (p.Trp942Ter)	SCN8A (W942*)	Insertion (nonsense)	Seizures, benign familial infantile, 5 +2 more	GLikely pathogenic
Select item 1297014	NM_014191.4(SCN8A):c.652G>T (p.Ala218Ser)	SCN8A (A218S)	Single nucleotide variant (missense variant +1 more)	Seizures, benign familial infantile, 5	GUncertain significance
Select item 1285472	NM_001330260.2(SCN8A):c.5499T>A (p.Asp1833Glu)	SCN8A (D1792E +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5	GUncertain significance
Select item 1250894	NM_001330260.2(SCN8A):c.2371-32A>C	SCN8A	Single nucleotide variant (intron variant)	Myoclonus, familial, 2 +5 more	GBenign
Select item 1221685	NM_001330260.2(SCN8A):c.4796-38C>A	SCN8A	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 1213776	NM_001330260.2(SCN8A):c.5613G>C (p.Glu1871Asp)	SCN8A (E1830D +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +1 more	GUncertain significance
Select item 1200168	NM_001330260.2(SCN8A):c.5583G>C (p.Glu1861Asp)	SCN8A (E1820D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1169384	NM_001330260.2(SCN8A):c.2545-7dup	SCN8A	Duplication (intron variant)	Cognitive impairment with or without cerebellar ataxia +6 more	GBenign
Select item 1039121	NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys)	SCN8A (E466K)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1036857	NM_001330260.2(SCN8A):c.3942+2_3942+5dup	SCN8A	Duplication (splice donor variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1029254	NM_001330260.2(SCN8A):c.548G>C (p.Cys183Ser)	SCN8A (C183S)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5	GUncertain significance
Select item 1016014	NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys)	SCN8A (N995K)	Single nucleotide variant (missense variant)	Myoclonus, familial, 2 +4 more	GConflicting classifications of pathogenicity
Select item 982944	NM_001330260.2(SCN8A):c.2702A>G (p.Tyr901Cys)	SCN8A (Y901C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GUncertain significance
Select item 942029	NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met)	SCN8A (V1195M)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 838164	NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp)	SCN8A (E713D)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +5 more	GUncertain significance
Select item 689734	NM_014191.4(SCN8A):c.697G>A (p.Val233Ile)	SCN8A (V233I)	Single nucleotide variant (missense variant +1 more)	Cognitive impairment with or without cerebellar ataxia +2 more	GLikely pathogenic
Select item 689732	NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly)	SCN8A (R226G)	Single nucleotide variant (missense variant +1 more)	Cognitive impairment with or without cerebellar ataxia +2 more	GLikely pathogenic
Select item 670686	NM_001330260.2(SCN8A):c.1135-48C>T	SCN8A	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 626165	NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser)	LOC114803470, SCN8A (N24S)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +5 more	GUncertain significance
Select item 579919	NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val)	SCN8A (I1827V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +4 more	GConflicting classifications of pathogenicity
Select item 578492	NM_001330260.2(SCN8A):c.5924T>C (p.Val1975Ala)	SCN8A (V1975A +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 574400	NM_001330260.2(SCN8A):c.2945C>T (p.Ala982Val)	SCN8A (A982V)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +1 more	GConflicting classifications of pathogenicity
Select item 548028	NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile)	SCN8A (T1545I +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +3 more	GConflicting classifications of pathogenicity
Select item 530412	NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln)	SCN8A (K1123Q)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +3 more	GUncertain significance
Select item 445379	NM_001330260.2(SCN8A):c.4282-10C>G	SCN8A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 5 +5 more	GConflicting classifications of pathogenicity
Select item 436670	NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln)	SCN8A (R1055Q)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 430208	NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn)	SCN8A (T1787N +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 420831	NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr)	SCN8A (M1869T +1 more)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +4 more	GConflicting classifications of pathogenicity
Select item 290005	NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)	SCN8A (R1626H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +4 more	GConflicting classifications of pathogenicity
Select item 287399	NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +6 more	GBenign/Likely benign
Select item 260352	NM_001330260.2(SCN8A):c.3490+20G>A	SCN8A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 13 +6 more	GBenign
Select item 253195	NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys)	SCN8A (E1483K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 208500	NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile)	SCN8A (T767I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic/Likely pathogenic
Select item 207142	NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser)	SCN8A (G1050S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 207139	NM_001330260.2(SCN8A):c.457A>C (p.Asn153His)	SCN8A (N153H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 207131	NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)	SCN8A (R1872W +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic
Select item 207123	NM_001330260.2(SCN8A):c.4472C>T (p.Ala1491Val)	SCN8A (A1491V +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 205963	NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	KCNQ3 (R230C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +8 more	GPathogenic/Likely pathogenic
Select item 139075	NM_001330260.2(SCN8A):c.141C>T (p.Asp47=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 5 +6 more	GBenign/Likely benign
Select item 139069	NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu)	SCN8A (I700L)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 135651	NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)	SCN8A (R850Q)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +6 more	GConflicting classifications of pathogenicity
Select item 130253	NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)	SCN8A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 5 +7 more	GBenign
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 130251	NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)	SCN8A	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 130247	NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)	SCN8A	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 130246	NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)	SCN8A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 13 +7 more	GBenign/Likely benign
Select item 130242	NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=)	SCN8A	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign

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Items: 66