ClinVar (all) for Orgtrack (Select 509487) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242418	NM_001165963.4(SCN1A):c.5511del (p.Pro1838fs)	LOC102724058, SCN1A (P1024fs +5 more)	Deletion (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic FDA Recognized database
Select item 1478168	NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)	SCN2A (M1879T)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GLikely pathogenic FDA Recognized database
Select item 1365761	NM_006922.4(SCN3A):c.585_586del (p.Phe195fs)	SCN3A (F195fs)	Deletion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic FDA Recognized database
Select item 1342669	NM_001040142.2(SCN2A):c.1108T>C (p.Phe370Leu)	SCN2A (F370L)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GUncertain significance FDA Recognized database
Select item 694309	NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser)	SCN8A (N1277S +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GLikely pathogenic FDA Recognized database
Select item 568706	NM_001330260.2(SCN8A):c.4687A>G (p.Ile1563Val)	SCN8A (I1563V +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GBenign FDA Recognized database
Select item 449813	NM_001330260.2(SCN8A):c.4590G>A (p.Met1530Ile)	SCN8A (M1530I +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GBenign FDA Recognized database
Select item 373960	NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)	SCN3A (I875T +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic FDA Recognized database
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 240715	NM_006922.4(SCN3A):c.5584G>T (p.Gly1862Cys)	SCN3A (G1862C +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GBenign FDA Recognized database
Select item 240713	NM_006922.4(SCN3A):c.5407G>A (p.Asp1803Asn)	SCN3A (D1803N +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GBenign FDA Recognized database
Select item 207024	NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)	SCN2A (A1773T)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GPathogenic FDA Recognized database
Select item 206852	NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro)	LOC102724058, SCN1A (R1628P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic FDA Recognized database
Select item 194857	NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile)	SCN3A (V1035I +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GBenign FDA Recognized database
Select item 194555	NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)	SCN2A (R853Q)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GPathogenic FDA Recognized database
Select item 189929	NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu)	SCN1A (P757L +4 more)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic FDA Recognized database
Select item 189869	NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His)	SCN1A (R920H +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic FDA Recognized database
Select item 138982	NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val)	LOC102724058, SCN1A (I1454V +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GBenign FDA Recognized database
Select item 130224	NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys)	SCN2A (R19K)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GBenign FDA Recognized database
Select item 130219	NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)	SCN2A (K908R)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GBenign FDA Recognized database

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Items: 20