ClinVar for PubMed (Select 20129283) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3229483	NM_000335.5(SCN5A):c.2435T>C (p.Leu812Pro)	SCN5A (L812P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3001404	NM_000335.5(SCN5A):c.3127del (p.Glu1043fs)	LOC110121269, SCN5A (E1043fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2999848	NM_000335.5(SCN5A):c.4979G>A (p.Gly1660Glu)	SCN5A (G1642E +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2910170	NM_000335.5(SCN5A):c.1044del (p.Asp349fs)	SCN5A (D349fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2910169	NM_000335.5(SCN5A):c.1122G>A (p.Trp374Ter)	SCN5A (W374*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2862415	NM_000335.5(SCN5A):c.392+2T>G	SCN5A (Y132D)	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2861983	NM_000335.5(SCN5A):c.3024dup (p.Tyr1009fs)	LOC110121269, SCN5A (Y1009fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2861576	NM_000335.5(SCN5A):c.655_656insATTCA (p.Arg219fs)	SCN5A (R219fs)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2850091	NM_000335.5(SCN5A):c.3354G>A (p.Trp1118Ter)	LOC110121269, SCN5A (W1119* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2846167	NM_000335.5(SCN5A):c.3006del (p.Ser1003fs)	LOC110121269, SCN5A (S1003fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2844180	NM_000335.5(SCN5A):c.2692G>T (p.Glu898Ter)	SCN5A (E898*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2831276	NM_000335.5(SCN5A):c.2437-1G>C	SCN5A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2829409	NM_000335.5(SCN5A):c.458del (p.Pro153fs)	SCN5A (P153fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2828453	NM_000335.5(SCN5A):c.2678G>C (p.Arg893Pro)	SCN5A (R893P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2818735	NM_000335.5(SCN5A):c.3694A>T (p.Lys1232Ter)	SCN5A (K1179* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2817837	NM_000335.5(SCN5A):c.4537dup (p.Leu1513fs)	SCN5A (L1460fs +4 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2798618	NM_000335.5(SCN5A):c.2336del (p.Gln779fs)	SCN5A (Q779fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2767841	NM_000335.5(SCN5A):c.2887del (p.Leu963fs)	LOC110121269, SCN5A (L963fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2767035	NM_000335.5(SCN5A):c.474del (p.Lys158fs)	SCN5A (K158fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2766824	NM_000335.5(SCN5A):c.4220G>C (p.Gly1407Ala)	SCN5A (G1407A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2764562	NM_000335.5(SCN5A):c.2597C>A (p.Ser866Ter)	SCN5A (S866*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2764009	NM_000335.5(SCN5A):c.3508+1G>C	SCN5A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2754673	NM_000335.5(SCN5A):c.1225_1226del (p.Leu409fs)	SCN5A (L409fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2754396	NM_000335.5(SCN5A):c.3025_3041del (p.Tyr1009fs)	LOC110121269, SCN5A (Y1009fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2750658	NM_000335.5(SCN5A):c.4549C>T (p.Gln1517Ter)	SCN5A (Q1499* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2749678	NM_000335.5(SCN5A):c.3493del (p.Asp1165fs)	SCN5A (D1165fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2739542	NM_000335.5(SCN5A):c.3816G>A (p.Trp1272Ter)	SCN5A (W1219* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2733575	NM_000335.5(SCN5A):c.3117del (p.Asp1041fs)	LOC110121269, SCN5A (D1041fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2719420	NM_000335.5(SCN5A):c.1051_1058dup (p.Ser354fs)	SCN5A (S354fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2718204	NM_000335.5(SCN5A):c.3142C>T (p.Pro1048Ser)	LOC110121269, SCN5A (P1048S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2708294	NM_000335.5(SCN5A):c.4270dup (p.Met1424fs)	SCN5A (M1371fs +2 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2705691	NM_000335.5(SCN5A):c.3810G>A (p.Trp1270Ter)	SCN5A (W1270* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2704596	NM_000335.5(SCN5A):c.4296G>A (p.Gly1432=)	SCN5A	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GUncertain significance
Select item 2506125	NM_000335.5(SCN5A):c.4423C>T (p.Gln1475Ter)	SCN5A (Q1422* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 2427634	NC_000003.11:g.(?_38606513)_(38627513_?)del	SCN5A	Deletion	Brugada syndrome	GPathogenic
Select item 2427633	NC_000003.11:g.(?_38647422)_(38648321_?)del	SCN5A	Deletion	Brugada syndrome	GPathogenic
Select item 2203340	NM_000335.5(SCN5A):c.1417G>T (p.Glu473Ter)	SCN5A (E473*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2203338	NM_000335.5(SCN5A):c.2541del (p.Ile848fs)	SCN5A (I848fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2203337	NM_000335.5(SCN5A):c.2799_2800del (p.Phe934fs)	LOC110121269, SCN5A (F934fs)	Microsatellite (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 2203336	NM_000335.5(SCN5A):c.4297-1G>A	SCN5A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2203335	NM_000335.5(SCN5A):c.4770G>A (p.Trp1590Ter)	SCN5A (W1591* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2126186	NM_000335.5(SCN5A):c.935-1G>A	SCN5A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2114785	NM_000335.5(SCN5A):c.4429A>T (p.Lys1477Ter)	SCN5A (K1477* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2113775	NM_000335.5(SCN5A):c.1652del (p.Ala551fs)	SCN5A (A551fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2107269	NM_000335.5(SCN5A):c.3891dup (p.Ile1298fs)	SCN5A (I1245fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2107170	NM_000335.5(SCN5A):c.1947T>A (p.Cys649Ter)	SCN5A (C649*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2104041	NM_000335.5(SCN5A):c.3005_3012dup (p.Ile1005fs)	LOC110121269, SCN5A (I1005fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2100770	NM_000335.5(SCN5A):c.3584del (p.Lys1195fs)	SCN5A (K1196fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2088946	NM_000335.5(SCN5A):c.3838-2A>T	SCN5A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2069900	NM_000335.5(SCN5A):c.2325C>G (p.Tyr775Ter)	SCN5A (Y775*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2057896	NM_000335.5(SCN5A):c.935-2A>G	SCN5A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2039747	NM_000335.5(SCN5A):c.1246del (p.Tyr416fs)	SCN5A (Y416fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2036709	NM_000335.5(SCN5A):c.596del (p.Ser199fs)	SCN5A (S199fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2031437	NM_000335.5(SCN5A):c.1305_1312del (p.Gln435fs)	SCN5A (Q435fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2027105	NM_000335.5(SCN5A):c.206del (p.Gly69fs)	SCN5A (G69fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2026498	NM_000335.5(SCN5A):c.3960+1G>T	SCN5A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2016715	NM_000335.5(SCN5A):c.2712G>A (p.Trp904Ter)	SCN5A (W904*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2016359	NM_000335.5(SCN5A):c.4538dup (p.Asn1514fs)	SCN5A (N1496fs +4 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2011754	NM_000335.5(SCN5A):c.274-9_274-2del	SCN5A	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1965471	NM_001099404.2(SCN5A):c.3229-1G>A	LOC110121269, SCN5A	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 1937049	NM_000335.5(SCN5A):c.3228+1G>C	LOC110121269, SCN5A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1788496	NM_000335.5(SCN5A):c.2254G>C (p.Gly752Arg)	SCN5A (G752R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1767167	NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter)	SCN5A (Q32*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1752994	NM_000335.5(SCN5A):c.634C>G (p.Leu212Val)	SCN5A (L212V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1737836	NM_000335.5(SCN5A):c.40del (p.Arg14fs)	SCN5A (R14fs)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1737393	NM_000335.5(SCN5A):c.4050G>T (p.Met1350Ile)	SCN5A (M1350I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1736533	NM_000335.5(SCN5A):c.3960+4A>G	SCN5A	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1733997	NM_000335.5(SCN5A):c.3693del (p.Lys1232fs)	SCN5A (K1179fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1730458	NM_000335.5(SCN5A):c.3342G>A (p.Trp1114Ter)	LOC110121269, SCN5A (W1114* +1 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype	GPathogenic
Select item 1691761	NM_000335.5(SCN5A):c.175C>T (p.Gln59Ter)	SCN5A (Q59*)	Single nucleotide variant (nonsense)	Brugada syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 1678156	NM_000335.5(SCN5A):c.3097C>T (p.Gln1033Ter)	LOC110121269, SCN5A (Q1033*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1521971	NM_000335.5(SCN5A):c.1141-2A>G	SCN5A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1510225	NM_000335.5(SCN5A):c.3663+2T>C	SCN5A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1502792	NM_000335.5(SCN5A):c.3388-1G>A	SCN5A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1502060	NM_000335.5(SCN5A):c.1140+2T>G	SCN5A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1460043	NM_000335.5(SCN5A):c.268C>T (p.Gln90Ter)	SCN5A (Q90*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1459701	NC_000003.11:g.(?_38671792)_(38674808_?)del	SCN5A	Deletion	Brugada syndrome	GPathogenic
Select item 1459394	NC_000003.11:g.(?_38591802)_(38674808_?)del	SCN5A	Deletion	Brugada syndrome	GPathogenic
Select item 1458577	NM_000335.5(SCN5A):c.3175C>T (p.Gln1059Ter)	LOC110121269, SCN5A (Q1059*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1458575	NM_000335.5(SCN5A):c.3573G>A (p.Trp1191Ter)	SCN5A (W1138* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1457205	NC_000003.11:g.(?_38616768)_(38649725_?)del	SCN5A	Deletion	Brugada syndrome	GPathogenic
Select item 1455926	NM_000335.5(SCN5A):c.475_482+3del	SCN5A	Deletion (splice donor variant)	not provided	GPathogenic
Select item 1455755	NM_000335.5(SCN5A):c.3027C>A (p.Tyr1009Ter)	LOC110121269, SCN5A (Y1009*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1455694	NM_000335.5(SCN5A):c.1555del (p.Ser519fs)	SCN5A (S519fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1454071	NM_000335.5(SCN5A):c.2091G>A (p.Trp697Ter)	SCN5A (W697*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1451878	NM_000335.5(SCN5A):c.4373del (p.Phe1458fs)	SCN5A (F1405fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1434817	NM_000335.5(SCN5A):c.4420_4423del (p.Gln1474fs)	SCN5A (Q1474fs +4 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1408176	NM_000335.5(SCN5A):c.217C>T (p.Gln73Ter)	SCN5A (Q73*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1406093	NM_000335.5(SCN5A):c.1452del (p.Gly485fs)	SCN5A (G485fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1392890	NM_000335.5(SCN5A):c.3041_3042del (p.Pro1014fs)	LOC110121269, SCN5A (P1014fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1386100	NM_000335.5(SCN5A):c.2533dup (p.Val845fs)	SCN5A (V845fs)	Duplication (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1375303	NM_000335.5(SCN5A):c.4316G>A (p.Trp1439Ter)	SCN5A (W1422* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1374462	NM_000335.5(SCN5A):c.578G>A (p.Trp193Ter)	SCN5A (W193*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1361908	NM_000335.5(SCN5A):c.1589del (p.Phe530fs)	SCN5A (F530fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1356845	NM_000335.5(SCN5A):c.3781G>T (p.Gly1261Cys)	SCN5A (G1261C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348900	NM_000335.5(SCN5A):c.999-1G>A	SCN5A	Single nucleotide variant (splice acceptor variant)	Familial sick sinus syndrome +2 more	GLikely pathogenic
Select item 1345786	NM_000335.5(SCN5A):c.703+1G>C	SCN5A	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1327132	NM_000335.5(SCN5A):c.4296+1del	SCN5A	Deletion (splice donor variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 1254662	NM_000335.5(SCN5A):c.1816del (p.Ala606fs)	SCN5A (A606fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1185878	NM_000335.5(SCN5A):c.3762del (p.Leu1255fs)	SCN5A (L1202fs +2 more)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic

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