"Ambry Genetics"[submitter] AND "SCN3A"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 289275	NM_006922.4(SCN3A):c.5825A>G (p.Gln1942Arg)	SCN3A (Q1942R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2607967	NM_006922.4(SCN3A):c.5801G>A (p.Gly1934Glu)	SCN3A (G1885E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1059130	NM_006922.4(SCN3A):c.5726G>A (p.Arg1909His)	SCN3A (R1860H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 661987	NM_006922.4(SCN3A):c.5713G>A (p.Ala1905Thr)	SCN3A (A1856T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2317413	NM_006922.4(SCN3A):c.5678C>A (p.Thr1893Asn)	SCN3A (T1893N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1047165	NM_006922.4(SCN3A):c.5589G>C (p.Glu1863Asp)	SCN3A (E1814D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3158531	NM_006922.4(SCN3A):c.5512G>A (p.Asp1838Asn)	SCN3A (D1838N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1990928	NM_006922.4(SCN3A):c.5499G>C (p.Gln1833His)	SCN3A (Q1784H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 951163	NM_006922.4(SCN3A):c.5483A>G (p.Lys1828Arg)	SCN3A (K1779R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2598200	NM_006922.4(SCN3A):c.5476A>T (p.Ile1826Leu)	SCN3A (I1777L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403875	NM_006922.4(SCN3A):c.5425G>A (p.Glu1809Lys)	SCN3A (E1809K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 586503	NM_006922.4(SCN3A):c.5200G>C (p.Gly1734Arg)	SCN3A (G1734R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1355921	NM_006922.4(SCN3A):c.5155C>A (p.Leu1719Ile)	SCN3A (L1719I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 521103	NM_006922.4(SCN3A):c.4924C>T (p.Arg1642Cys)	SCN3A (R1642C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 650373	NM_006922.4(SCN3A):c.4792A>G (p.Ile1598Val)	SCN3A (I1549V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1315119	NM_006922.4(SCN3A):c.4616A>G (p.Asn1539Ser)	SCN3A (N1490S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 986220	NM_006922.4(SCN3A):c.4535C>A (p.Ala1512Glu)	SCN3A (A1463E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1420991	NM_006922.4(SCN3A):c.3892G>A (p.Gly1298Ser)	SCN3A (G1298S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2229532	NM_006922.4(SCN3A):c.3734A>C (p.Lys1245Thr)	SCN3A (K1196T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2543860	NM_006922.4(SCN3A):c.3712A>G (p.Thr1238Ala)	SCN3A (T1238A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620568	NM_006922.4(SCN3A):c.3706A>G (p.Ile1236Val)	SCN3A (I1187V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 842260	NM_006922.4(SCN3A):c.3689T>C (p.Ile1230Thr)	SCN3A (I1181T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 944297	NM_006922.4(SCN3A):c.3682A>G (p.Ile1228Val)	SCN3A (I1179V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 521899	NM_006922.4(SCN3A):c.3480AGA[1] (p.Glu1161del)	SCN3A (E1161del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 240709	NM_006922.4(SCN3A):c.3478G>A (p.Glu1160Lys)	SCN3A (E1160K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1037560	NM_006922.4(SCN3A):c.3435T>G (p.Asp1145Glu)	SCN3A (D1145E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 955392	NM_006922.4(SCN3A):c.3256G>A (p.Asp1086Asn)	SCN3A (D1086N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2283153	NM_006922.4(SCN3A):c.3103A>C (p.Lys1035Gln)	SCN3A (K986Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1019538	NM_006922.4(SCN3A):c.3095G>C (p.Arg1032Thr)	SCN3A (R1032T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2227381	NM_006922.4(SCN3A):c.2641G>A (p.Ala881Thr)	SCN3A (A881T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 856865	NM_006922.4(SCN3A):c.2449T>C (p.Tyr817His)	SCN3A (Y768H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2550908	NM_006922.4(SCN3A):c.2381T>C (p.Val794Ala)	SCN3A (V745A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1706428	NM_006922.4(SCN3A):c.2368A>T (p.Ser790Cys)	SCN3A (S741C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3158530	NM_006922.4(SCN3A):c.2236T>C (p.Trp746Arg)	SCN3A (W697R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 642749	NM_006922.4(SCN3A):c.2204A>G (p.Asn735Ser)	SCN3A (N686S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3158529	NM_006922.4(SCN3A):c.2195G>T (p.Arg732Ile)	SCN3A (R683I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2289808	NM_006922.4(SCN3A):c.1810A>G (p.Ser604Gly)	SCN3A (S604G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231764	NM_006922.4(SCN3A):c.1799C>T (p.Thr600Ile)	SCN3A (T600I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 652136	NM_006922.4(SCN3A):c.1732T>C (p.Phe578Leu)	SCN3A (F578L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 839462	NM_006922.4(SCN3A):c.1712G>A (p.Arg571His)	SCN3A (R571H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 403867	NM_006922.4(SCN3A):c.1687C>T (p.Arg563Cys)	SCN3A (R563C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2495503	NM_006922.4(SCN3A):c.1642A>G (p.Ser548Gly)	SCN3A (S548G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 194080	NM_006922.4(SCN3A):c.1619C>T (p.Ser540Phe)	SCN3A (S540F)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 664897	NM_006922.4(SCN3A):c.1523A>G (p.Gln508Arg)	SCN3A (Q508R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 965681	NM_006922.4(SCN3A):c.1400C>T (p.Ala467Val)	SCN3A (A467V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2130181	NM_006922.4(SCN3A):c.1376C>A (p.Ala459Asp)	SCN3A (A459D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 985602	NM_006922.4(SCN3A):c.1348G>A (p.Glu450Lys)	SCN3A (E450K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 208754	NM_006922.4(SCN3A):c.1318C>T (p.Gln440Ter)	SCN3A (Q440*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1440042	NM_006922.4(SCN3A):c.1205T>C (p.Ile402Thr)	SCN3A (I402T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 698747	NM_006922.4(SCN3A):c.956T>C (p.Ile319Thr)	SCN3A (I319T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1406868	NM_006922.4(SCN3A):c.919A>C (p.Asn307His)	SCN3A (N307H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 638991	NM_006922.4(SCN3A):c.850G>A (p.Asp284Asn)	SCN3A (D284N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1013869	NM_006922.4(SCN3A):c.847A>G (p.Ser283Gly)	SCN3A (S283G)	Single nucleotide variant (missense variant)	SCN3A-related disorder +2 more	GUncertain significance
Select item 1055385	NM_006922.4(SCN3A):c.694+5G>C	SCN3A	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2610156	NM_006922.4(SCN3A):c.603-92G>A	SCN3A	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228421	NM_006922.4(SCN3A):c.603-104C>T	SCN3A (S228F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304449	NM_006922.4(SCN3A):c.586A>G (p.Ser196Gly)	SCN3A (S196G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 808840	NM_006922.4(SCN3A):c.551C>T (p.Thr184Met)	SCN3A (T184M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 197285	NM_006922.4(SCN3A):c.295A>G (p.Ile99Val)	SCN3A (I99V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2271469	NM_006922.4(SCN3A):c.277A>G (p.Met93Val)	SCN3A (M93V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521703	NM_006922.4(SCN3A):c.152C>T (p.Pro51Leu)	SCN3A (P51L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1710876	NM_006922.4(SCN3A):c.125A>G (p.Asp42Gly)	SCN3A (D42G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2614936	NM_006922.4(SCN3A):c.123A>C (p.Gln41His)	SCN3A (Q41H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1002554	NM_006922.4(SCN3A):c.76G>A (p.Glu26Lys)	SCN3A (E26K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1403819	NM_006922.4(SCN3A):c.55A>G (p.Arg19Gly)	SCN3A (R19G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 67