C4693699[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 664858	NM_006922.4(SCN3A):c.5583G>C (p.Leu1861Phe)	SCN3A (L1812F +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62 +1 more	GUncertain significance
Select item 521063	NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala)	SCN3A (V1769A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 1329938	NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile)	SCN3A (M1716I +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 4 +1 more	GPathogenic/Likely pathogenic
Select item 1329937	NM_006922.4(SCN3A):c.5006A>G (p.Tyr1669Cys)	SCN3A (Y1620C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62	GLikely pathogenic
Select item 1329936	NM_006922.4(SCN3A):c.4937T>C (p.Phe1646Ser)	SCN3A (F1597S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62	GLikely pathogenic
Select item 432534	NM_006922.4(SCN3A):c.4862G>A (p.Arg1621Gln)	SCN3A (R1621Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1329935	NM_006922.4(SCN3A):c.4518del (p.Lys1506fs)	SCN3A (K1457fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 62	GLikely pathogenic
Select item 1329934	NM_006922.4(SCN3A):c.4457C>T (p.Thr1486Ile)	SCN3A (T1437I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62 +1 more	GPathogenic/Likely pathogenic
Select item 808839	NM_006922.4(SCN3A):c.4403T>G (p.Ile1468Arg)	SCN3A (I1419R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62 +1 more	GLikely pathogenic
Select item 379838	NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu)	SCN3A (P1333L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62 +1 more	GPathogenic/Likely pathogenic
Select item 3068482	NM_006922.4(SCN3A):c.2727A>T (p.Lys909Asn)	SCN3A (K860N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62	GUncertain significance
Select item 1329933	NM_006922.4(SCN3A):c.2653C>T (p.Leu885Phe)	SCN3A (L836F +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62	GLikely pathogenic
Select item 373960	NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)	SCN3A (I875T +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 4 +3 more	GPathogenic/Likely pathogenic
Select item 1329932	NM_006922.4(SCN3A):c.2564T>C (p.Leu855Pro)	SCN3A (L806P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62	GLikely pathogenic
Select item 1445349	NM_006922.4(SCN3A):c.2552G>A (p.Arg851Gln)	SCN3A (R802Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62 +1 more	GUncertain significance
Select item 982804	NM_006922.4(SCN3A):c.1032-7C>T	SCN3A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 62	GUncertain significance
Select item 982805	NM_006922.4(SCN3A):c.481T>C (p.Phe161Leu)	SCN3A (F161L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62	GUncertain significance