ClinVar for MedGen (Select 1644614) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064797	NM_006922.4(SCN3A):c.4783G>C (p.Val1595Leu)	SCN3A (V1546L +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 4	GUncertain significance
Select item 2651479	NM_006922.4(SCN3A):c.4168C>G (p.Gln1390Glu)	SCN3A (Q1341E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2042360	NM_006922.4(SCN3A):c.764T>C (p.Val255Ala)	SCN3A (V255A)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 4 +1 more	GUncertain significance
Select item 1878603	NM_006922.4(SCN3A):c.3683T>C (p.Ile1228Thr)	SCN3A (I1179T +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 4 +1 more	GUncertain significance
Select item 1878573	NM_006922.4(SCN3A):c.5047G>T (p.Glu1683Ter)	SCN3A (E1634* +1 more)	Single nucleotide variant (nonsense)	Epilepsy, familial focal, with variable foci 4	GUncertain significance
Select item 1803147	NM_006922.4(SCN3A):c.595G>A (p.Val199Met)	SCN3A (V199M)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 4	GUncertain significance
Select item 1802268	NM_006922.4(SCN3A):c.2017G>T (p.Glu673Ter)	SCN3A (E673*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 62 +1 more	GPathogenic
Select item 1708494	NM_006922.4(SCN3A):c.603-119C>T	SCN3A (A223V)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 4	GUncertain significance
Select item 1679624	NM_006922.4(SCN3A):c.-50-2312T>C	SCN3A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 62 +1 more	GUncertain significance
Select item 1675128	NM_006922.4(SCN3A):c.5734A>C (p.Arg1912=)	SCN3A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 62 +1 more	GUncertain significance
Select item 1577200	NM_006922.4(SCN3A):c.4432-14T>C	SCN3A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1422176	NM_006922.4(SCN3A):c.4G>A (p.Ala2Thr)	SCN3A (A2T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1342364	NM_006922.4(SCN3A):c.1663C>A (p.Pro555Thr)	SCN3A (P555T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62 +1 more	GUncertain significance
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 1241883	NM_006922.4(SCN3A):c.1381-34G>A	SCN3A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1221351	NM_006922.4(SCN3A):c.695-46A>G	SCN3A	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 4 +2 more	GBenign
Select item 1169487	NM_006922.4(SCN3A):c.968-20G>T	SCN3A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1062741	NM_006922.4(SCN3A):c.3629C>T (p.Thr1210Ile)	SCN3A (T1161I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62 +2 more	GUncertain significance
Select item 1033165	NM_006922.4(SCN3A):c.1580A>C (p.Glu527Ala)	SCN3A (E527A)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 4	GUncertain significance
Select item 1019843	NM_006922.4(SCN3A):c.694+3G>T	SCN3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1008548	NM_006922.4(SCN3A):c.3133A>G (p.Ile1045Val)	SCN3A (I1045V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 975981	NM_006922.4(SCN3A):c.3092T>A (p.Phe1031Tyr)	SCN3A (F1031Y +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 4	GUncertain significance
Select item 944297	NM_006922.4(SCN3A):c.3682A>G (p.Ile1228Val)	SCN3A (I1179V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 937082	NM_006922.4(SCN3A):c.2391+3A>G	SCN3A	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 934871	NM_006922.4(SCN3A):c.4640C>T (p.Thr1547Met)	SCN3A (T1547M +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 4 +2 more	GUncertain significance
Select item 863540	NM_006922.4(SCN3A):c.3499G>A (p.Ala1167Thr)	SCN3A (A1167T +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 4 +2 more	GUncertain significance
Select item 859810	NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=)	SCN3A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 62 +2 more	GConflicting classifications of pathogenicity
Select item 848668	NM_006922.4(SCN3A):c.603-3_603-2del	SCN3A	Deletion (splice acceptor variant +1 more)	Developmental and epileptic encephalopathy, 62 +2 more	GUncertain significance
Select item 828141	NM_006922.4(SCN3A):c.3265G>C (p.Asp1089His)	SCN3A (D1040H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 696399	NM_006922.4(SCN3A):c.2392-9A>G	SCN3A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 62 +2 more	GBenign/Likely benign
Select item 652759	NM_006922.4(SCN3A):c.4186G>A (p.Val1396Met)	SCN3A (V1347M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 641373	NM_006922.4(SCN3A):c.137A>C (p.Glu46Ala)	SCN3A (E46A)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 4 +2 more	GUncertain significance
Select item 624154	NM_006922.4(SCN3A):c.1970T>C (p.Val657Ala)	SCN3A (V657A)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 4 +2 more	GUncertain significance
Select item 586504	NM_006922.4(SCN3A):c.602+9C>T	SCN3A	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 4 +2 more	GBenign
Select item 586503	NM_006922.4(SCN3A):c.5200G>C (p.Gly1734Arg)	SCN3A (G1734R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62 +2 more	GUncertain significance
Select item 586501	NM_006922.4(SCN3A):c.2031A>T (p.Thr677=)	SCN3A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 62 +2 more	GBenign
Select item 522566	NM_006922.3(SCN3A):c.742T>C (p.Ser248Pro)	SCN3A (S248P)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 4	GPathogenic
Select item 522565	NM_006922.4(SCN3A):c.4114A>G (p.Met1372Val)	SCN3A (M1323V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 522564	NM_006922.4(SCN3A):c.2443G>A (p.Asp815Asn)	SCN3A (D766N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 522563	NM_006922.4(SCN3A):c.1070G>A (p.Arg357Gln)	SCN3A (R357Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431902	NM_006922.4(SCN3A):c.5881A>T (p.Ser1961Cys)	SCN3A (S1961C +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 4 +1 more	GUncertain significance
Select item 412602	NM_006922.4(SCN3A):c.5232A>G (p.Pro1744=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 403872	NM_006922.4(SCN3A):c.3232A>G (p.Ser1078Gly)	SCN3A (S1078G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62 +2 more	GUncertain significance
Select item 403865	NM_006922.4(SCN3A):c.3989G>A (p.Gly1330Glu)	SCN3A (G1330E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 240708	NM_006922.4(SCN3A):c.2021G>A (p.Gly674Asp)	SCN3A (G674D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 196445	NM_006922.4(SCN3A):c.171T>C (p.Ala57=)	SCN3A	Single nucleotide variant (synonymous variant)	SCN3A-related condition +4 more	GBenign/Likely benign
Select item 194858	NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val)	SCN3A (I1036V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 194857	NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile)	SCN3A (V1035I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62 +3 more	GBenign/Likely benign
Select item 194238	NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu)	SCN3A (G668E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 167650	NM_006922.4(SCN3A):c.2547A>C (p.Val849=)	SCN3A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 62 +3 more	GBenign
Select item 95445	NM_006922.4(SCN3A):c.1441C>T (p.Leu481=)	SCN3A	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 4 +3 more	GBenign
Select item 95444	NM_006922.4(SCN3A):c.127_129del (p.Asn43del)	SCN3A (N43del)	Deletion (inframe_deletion)	Epilepsy, familial focal, with variable foci 4 +3 more	GBenign

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Items: 53