"Channelopathy-Associated Epilepsy Research Center"[submitter] AND "SC - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067143	NM_001330260.2(SCN8A):c.417G>C (p.Met139Ile)	SCN8A (M139I)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	Gnot provided
Select item 3067146	NM_014191.4(SCN8A):c.667_668delinsCA (p.Arg223Gln)	SCN8A (R223Q)	Indel (missense variant +1 more)	Complex neurodevelopmental disorder	Gnot provided
Select item 1325766	NM_001330260.2(SCN8A):c.805G>A (p.Gly269Arg)	SCN8A (G269R)	Single nucleotide variant (missense variant)	Global developmental delay +3 more	GLikely pathogenic
Select item 3067145	NM_001330260.2(SCN8A):c.1122C>G (p.Asn374Lys)	SCN8A (N374K)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	Gnot provided
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 1325768	NM_001330260.2(SCN8A):c.2464G>A (p.Gly822Arg)	SCN8A (G822R)	Single nucleotide variant (missense variant)	Global developmental delay +3 more	GLikely pathogenic
Select item 3067142	NM_001330260.2(SCN8A):c.2519T>C (p.Leu840Pro)	SCN8A (L840P)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	Gnot provided
Select item 253284	NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser)	SCN8A (F846S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GPathogenic
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	GPathogenic/Likely pathogenic
Select item 383545	NM_001330260.2(SCN8A):c.2890G>C (p.Gly964Arg)	SCN8A (G964R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 192317	NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys)	SCN8A (N984K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GPathogenic
Select item 253288	NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val)	SCN8A (I1327V +1 more)	Single nucleotide variant (missense variant)	SCN8A-related disorder +2 more	GPathogenic
Select item 60709	NM_001330260.2(SCN8A):c.3991C>G (p.Leu1331Val)	SCN8A (L1290V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GPathogenic
Select item 3067148	NM_001330260.2(SCN8A):c.4079_4080delinsGG (p.Thr1360Arg)	SCN8A (T1319R +1 more)	Indel (missense variant)	Complex neurodevelopmental disorder	Gnot provided
Select item 1325767	NM_001330260.2(SCN8A):c.4079C>A (p.Thr1360Asn)	SCN8A (T1319N +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 192318	NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser)	SCN8A (G1451S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 207119	NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)	SCN8A (G1475R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
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 207123	NM_001330260.2(SCN8A):c.4472C>T (p.Ala1491Val)	SCN8A (A1491V +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 156106	NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln)	SCN8A (R1617Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +3 more	GPathogenic
Select item 225100	NM_001330260.2(SCN8A):c.4859G>T (p.Arg1620Leu)	SCN8A (R1620L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 520653	NM_001330260.2(SCN8A):c.4865C>A (p.Ala1622Asp)	SCN8A (A1622D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 1008700	NM_001330260.2(SCN8A):c.4912C>T (p.Arg1638Cys)	SCN8A (R1597C +1 more)	Single nucleotide variant (missense variant)	Seizure +4 more	GConflicting classifications of pathogenicity
Select item 3067141	NM_001330260.2(SCN8A):c.4961T>A (p.Ile1654Asn)	SCN8A (I1613N +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	Gnot provided
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 3067150	NM_001330260.2(SCN8A):c.5273T>C (p.Val1758Ala)	SCN8A (V1717A +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	Gnot provided
Select item 3067144	NM_001330260.2(SCN8A):c.5280G>C (p.Met1760Ile)	SCN8A (M1719I +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	Gnot provided
Select item 30123	NM_001330260.2(SCN8A):c.5302A>G (p.Asn1768Asp)	SCN8A (N1768D +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3067149	NM_001330260.2(SCN8A):c.5359A>C (p.Thr1787Pro)	SCN8A (T1746P +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	Gnot provided
Select item 207131	NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)	SCN8A (R1872W +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 253297	NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln)	SCN8A (R1872Q +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GPathogenic FDA Recognized database
Select item 207132	NM_001330260.2(SCN8A):c.5615G>T (p.Arg1872Leu)	SCN8A (R1872L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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

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Items: 33