ClinVar for MedGen (Select 1683864) - ClinVar

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Items: 31

	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 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 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 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 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 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 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 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 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 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 623637	NM_001330260.2(SCN8A):c.5156C>G (p.Pro1719Arg)	SCN8A (P1719R +1 more)	Single nucleotide variant (missense variant)	Myoclonus, familial, 2	GPathogenic
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 287399	NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=)	SCN8A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 5 +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 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)	Inborn genetic diseases +7 more	GBenign/Likely benign
Select item 130253	NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)	SCN8A	Single nucleotide variant (synonymous variant)	Myoclonus, familial, 2 +7 more	GBenign
Select item 130251	NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)	SCN8A	Single nucleotide variant (synonymous variant)	Myoclonus, familial, 2 +7 more	GBenign
Select item 130247	NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)	SCN8A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +7 more	GBenign
Select item 130246	NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)	SCN8A	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 130242	NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +7 more	GBenign

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Items: 31