ClinVar for MedGen (Select 482045) - ClinVar

Links from MedGen

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359106	NM_001330260.2(SCN8A):c.323C>T (p.Ala108Val)	SCN8A (A108V)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 3242415	NM_001330260.2(SCN8A):c.4922T>C (p.Leu1641Pro)	SCN8A (L1600P +1 more)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
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 3066078	NM_001330260.2(SCN8A):c.970T>A (p.Cys324Ser)	SCN8A (C324S)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +1 more	GUncertain significance
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 2664985	NM_001330260.2(SCN8A):c.4125_4126del (p.Glu1375_Cys1376insTer)	SCN8A	Deletion (frameshift variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 2627422	NM_001330260.2(SCN8A):c.2016A>C (p.Glu672Asp)	SCN8A (E672D)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 2584400	NM_001330260.2(SCN8A):c.2812A>T (p.Ile938Phe)	SCN8A (I938F)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	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 2578435	NM_001330260.2(SCN8A):c.2685A>C (p.Gln895His)	SCN8A (Q895H)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 2576971	NM_001330260.2(SCN8A):c.737A>G (p.Gln246Arg)	SCN8A (Q246R)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +1 more	GLikely pathogenic
Select item 2573050	NM_001330260.2(SCN8A):c.109_137del (p.Pro37fs)	LOC114803470, SCN8A (P37fs)	Deletion (frameshift variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 2573030	NM_001330260.2(SCN8A):c.4017dup (p.Ile1340fs)	SCN8A (I1299fs +1 more)	Duplication (frameshift variant)	Cognitive impairment with or without cerebellar ataxia	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 2499548	NM_001330260.2(SCN8A):c.5284A>C (p.Ile1762Leu)	SCN8A (I1721L +1 more)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GPathogenic
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 2230679	NM_001330260.2(SCN8A):c.4090C>T (p.Arg1364Ter)	SCN8A (R1323* +1 more)	Single nucleotide variant (nonsense)	Cognitive impairment with or without cerebellar ataxia +1 more	GConflicting classifications of pathogenicity
Select item 1992396	NM_001330260.2(SCN8A):c.2225T>C (p.Leu742Pro)	SCN8A (L742P)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 1992391	NM_001330260.2(SCN8A):c.2167T>G (p.Trp723Gly)	SCN8A (W723G)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 1895387	NM_001330260.2(SCN8A):c.536del (p.Ala179fs)	SCN8A (A179fs)	Deletion (frameshift variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 1806334	NM_001330260.2(SCN8A):c.3113A>G (p.Tyr1038Cys)	SCN8A (Y1038C)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 1806216	NM_001330260.2(SCN8A):c.1403AAG[1] (p.Glu469del)	SCN8A (E469del)	Microsatellite (inframe_deletion)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 1802551	NM_001330260.2(SCN8A):c.2734T>G (p.Cys912Gly)	SCN8A (C912G)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 1710172	NM_001330260.2(SCN8A):c.4159A>G (p.Ile1387Val)	SCN8A (I1346V +1 more)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 1707506	NM_001330260.2(SCN8A):c.3942+1387_4135del	SCN8A	Deletion (splice acceptor variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 1699202	NM_001330260.2(SCN8A):c.971G>A (p.Cys324Tyr)	SCN8A (C324Y)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +1 more	GPathogenic/Likely pathogenic
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 1691849	NM_001330260.2(SCN8A):c.3964G>C (p.Gly1322Arg)	SCN8A (G1281R +1 more)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 1686172	NM_001330260.2(SCN8A):c.4876C>T (p.Arg1626Cys)	SCN8A (R1585C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1686171	NM_001330260.2(SCN8A):c.2693del (p.Gly898fs)	SCN8A (G898fs)	Deletion (frameshift variant)	Cognitive impairment with or without cerebellar ataxia	GPathogenic
Select item 1686170	NM_001330260.2(SCN8A):c.1150G>A (p.Gly384Arg)	SCN8A (G384R)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GPathogenic
Select item 1685436	NM_001330260.2(SCN8A):c.4937T>C (p.Met1646Thr)	SCN8A (M1605T +1 more)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 1683658	NM_001330260.2(SCN8A):c.3449A>C (p.Gln1150Pro)	SCN8A (Q1150P)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	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 1679326	NM_001330260.2(SCN8A):c.5620G>C (p.Val1874Leu)	SCN8A (V1833L +1 more)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GConflicting classifications of pathogenicity
Select item 1526183	NM_001330260.2(SCN8A):c.2548C>G (p.Arg850Gly)	SCN8A (R850G)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GPathogenic
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 1385042	NM_001330260.2(SCN8A):c.1226T>C (p.Val409Ala)	SCN8A (V409A)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +1 more	GPathogenic/Likely pathogenic
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 1343125	NM_001330260.2(SCN8A):c.1483_1484insT (p.Arg495fs)	SCN8A (R495fs)	Insertion (frameshift variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 1341785	NM_001330260.2(SCN8A):c.3820-1G>T	SCN8A	Single nucleotide variant (splice acceptor variant +1 more)	Cognitive impairment with or without cerebellar ataxia +1 more	GUncertain significance
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 1333715	NM_001330260.2(SCN8A):c.825del (p.Asn276fs)	SCN8A (N276fs)	Deletion (frameshift variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 1285578	NM_001330260.2(SCN8A):c.4391T>C (p.Ile1464Thr)	SCN8A (I1423T +1 more)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +2 more	GLikely pathogenic
Select item 1285486	NM_001330260.2(SCN8A):c.718A>T (p.Ile240Phe)	SCN8A (I240F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GLikely pathogenic
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 1169384	NM_001330260.2(SCN8A):c.2545-7dup	SCN8A	Duplication (intron variant)	Cognitive impairment with or without cerebellar ataxia +6 more	GBenign
Select item 1064572	NM_001330260.2(SCN8A):c.5719C>T (p.Arg1907Trp)	SCN8A (R1866W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 1031970	NM_001330260.2(SCN8A):c.676C>G (p.Arg226Gly)	SCN8A (R226G)	Single nucleotide variant (missense variant +1 more)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 1031806	NM_001330260.2(SCN8A):c.3793T>C (p.Cys1265Arg)	SCN8A (C1265R)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 1029256	NM_001330260.2(SCN8A):c.614+1G>A	SCN8A	Single nucleotide variant (splice donor variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 1029255	NM_001330260.2(SCN8A):c.5761A>G (p.Thr1921Ala)	SCN8A (T1921A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 996906	NM_001330260.2(SCN8A):c.2491G>A (p.Glu831Lys)	SCN8A (E831K)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 995416	NM_001330260.2(SCN8A):c.2531G>A (p.Arg844Gln)	SCN8A (R844Q)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 873456	NM_001330260.2(SCN8A):c.4972C>T (p.Leu1658Phe)	SCN8A (L1658F +1 more)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 869443	NM_001330260.2(SCN8A):c.5375G>A (p.Trp1792Ter)	SCN8A (W1751* +1 more)	Single nucleotide variant (nonsense)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 859001	NM_001330260.2(SCN8A):c.2234T>C (p.Ile745Thr)	SCN8A (I745T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
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 833575	NM_001330260.2(SCN8A):c.3703G>A (p.Ala1235Thr)	SCN8A (A1235T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 807679	NM_001330260.2(SCN8A):c.2546T>A (p.Leu849His)	SCN8A (L849H)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
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 642664	NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His)	SCN8A (R365H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +3 more	GConflicting classifications of pathogenicity
Select item 640899	NM_001330260.2(SCN8A):c.3152C>T (p.Ala1051Val)	SCN8A (A1051V)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +1 more	GUncertain significance
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 569559	NM_001330260.2(SCN8A):c.417G>A (p.Met139Ile)	SCN8A (M139I)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +1 more	GPathogenic
Select item 530531	NM_001330260.2(SCN8A):c.1519G>C (p.Glu507Gln)	SCN8A (E507Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 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 495260	NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)	SCN8A (A874T)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +1 more	GPathogenic/Likely pathogenic
Select item 461339	NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln)	SCN8A (R1188Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +3 more	GConflicting classifications of pathogenicity
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 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 419568	NM_001330260.2(SCN8A):c.718A>G (p.Ile240Val)	SCN8A (I240V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic/Likely pathogenic
Select item 379563	NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp)	SCN8A (E593D)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +2 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)	Myoclonus, familial, 2 +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 253276	NM_014191.4(SCN8A):c.641G>A (p.Gly214Asp)	SCN8A (G214D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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 207108	NM_001330260.2(SCN8A):c.1984C>T (p.Arg662Cys)	SCN8A (R662C)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +1 more	GUncertain significance
Select item 195688	NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr)	SCN8A (A1323T +1 more)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +4 more	GPathogenic/Likely pathogenic
Select item 139075	NM_001330260.2(SCN8A):c.141C>T (p.Asp47=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 13 +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)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 130253	NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)	SCN8A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 13 +7 more	GBenign
Select item 130251	NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)	SCN8A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 13 +7 more	GBenign
Select item 130247	NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)	SCN8A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 13 +7 more	GBenign
Select item 130246	NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)	SCN8A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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
Select item 8912	NM_001330260.2(SCN8A):c.5156_5157del (p.Pro1719fs)	SCN8A (P1678fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance

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Items: 99