Related gene-specific medical variations for Gene (Select 6336) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 264

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361081	NM_006514.4(SCN10A):c.293G>C (p.Gly98Ala)	SCN10A (G98A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359394	NM_006514.4(SCN10A):c.2079C>G (p.Phe693Leu)	SCN10A (F595L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359276	NM_006514.4(SCN10A):c.200A>G (p.Tyr67Cys)	SCN10A (Y67C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3316540	NM_006514.4(SCN10A):c.3146G>A (p.Gly1049Asp)	LOC110121288, SCN10A (G1048D +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3316530	NM_006514.4(SCN10A):c.2878A>G (p.Asn960Asp)	LOC110121288, SCN10A (N960D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3316520	NM_006514.4(SCN10A):c.3503C>G (p.Ser1168Cys)	LOC110121288, SCN10A (S1070C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3316500	NM_006514.4(SCN10A):c.3444C>T (p.Ile1148=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3253406	NM_006514.4(SCN10A):c.2903G>C (p.Arg968Thr)	LOC110121288, SCN10A (R870T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3225648	NM_006514.4(SCN10A):c.3270C>T (p.Asp1090=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225647	NM_006514.4(SCN10A):c.3242C>A (p.Thr1081Lys)	LOC110121288, SCN10A (T1080K +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225646	NM_006514.4(SCN10A):c.3235G>A (p.Asp1079Asn)	LOC110121288, SCN10A (D1078N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3225645	NM_006514.4(SCN10A):c.3217G>A (p.Val1073Ile)	LOC110121288, SCN10A (V1072I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225644	NM_006514.4(SCN10A):c.3187G>A (p.Glu1063Lys)	LOC110121288, SCN10A (E1062K +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225643	NM_006514.4(SCN10A):c.3082G>A (p.Gly1028Arg)	LOC110121288, SCN10A (G1028R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225642	NM_006514.4(SCN10A):c.3057C>T (p.Ser1019=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225641	NM_006514.4(SCN10A):c.3048T>C (p.Asp1016=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225640	NM_006514.4(SCN10A):c.2936G>A (p.Gly979Asp)	LOC110121288, SCN10A (G881D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225639	NM_006514.4(SCN10A):c.2880C>T (p.Asn960=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225638	NM_006514.4(SCN10A):c.2782C>G (p.Leu928Val)	LOC110121288, SCN10A (L830V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3158493	NM_006514.4(SCN10A):c.3263C>T (p.Thr1088Met)	LOC110121288, SCN10A (T1088M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3158492	NM_006514.4(SCN10A):c.3224C>T (p.Ala1075Val)	LOC110121288, SCN10A (A1074V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3046912	NM_006514.4(SCN10A):c.3507+6G>A	LOC110121288, SCN10A	Single nucleotide variant (intron variant)	SCN10A-related disorder	GLikely benign
Select item 3030262	NM_006514.4(SCN10A):c.3353-5C>T	LOC110121288, SCN10A	Single nucleotide variant (intron variant)	SCN10A-related disorder	GLikely benign
Select item 3023103	NM_006514.4(SCN10A):c.3116G>T (p.Cys1039Phe)	LOC110121288, SCN10A (C1038F +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 3011925	NM_006514.4(SCN10A):c.2922C>T (p.Leu974=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2986832	NM_006514.4(SCN10A):c.3181C>T (p.Leu1061=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2863540	NM_006514.4(SCN10A):c.2910C>T (p.Ser970=)	SCN10A, LOC110121288	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2859623	NM_006514.4(SCN10A):c.3393C>T (p.Thr1131=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2845798	NM_006514.4(SCN10A):c.3088-14C>T	LOC110121288, SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2842243	NM_006514.4(SCN10A):c.3231A>C (p.Gly1077=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2748959	NM_006514.4(SCN10A):c.3318T>C (p.Asp1106=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2728439	NM_006514.4(SCN10A):c.2832G>T (p.Glu944Asp)	LOC110121288, SCN10A (E846D +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2727348	NM_006514.4(SCN10A):c.3087+20G>T	LOC110121288, SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2689911	NM_006514.4(SCN10A):c.2962A>T (p.Ile988Phe)	LOC110121288, SCN10A (I890F +1 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2	GUncertain significance
Select item 2625775	NM_006514.4(SCN10A):c.3158C>A (p.Ser1053Tyr)	LOC110121288, SCN10A (S1053Y +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 2625766	NM_006514.4(SCN10A):c.3062A>G (p.Gln1021Arg)	LOC110121288, SCN10A (Q923R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2625765	NM_006514.4(SCN10A):c.3422T>G (p.Val1141Gly)	LOC110121288, SCN10A (V1140G +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2622236	NM_006514.4(SCN10A):c.3118_3130delinsCCAGGCACTGGAACATCTTC (p.Gly1040fs)	LOC110121288, SCN10A (G942fs +2 more)	Indel (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 2621908	NM_006514.4(SCN10A):c.3123C>A (p.Asp1041Glu)	LOC110121288, SCN10A (D1041E +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2563730	NM_006514.4(SCN10A):c.3388A>G (p.Thr1130Ala)	SCN10A, LOC110121288 (T1129A +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2563712	NM_006514.4(SCN10A):c.2826G>A (p.Lys942=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2497140	NM_006514.4(SCN10A):c.2789G>A (p.Ser930Asn)	LOC110121288, SCN10A (S930N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448862	NM_006514.4(SCN10A):c.3009A>G (p.Glu1003=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2448860	NM_006514.4(SCN10A):c.2804C>T (p.Ser935Phe)	LOC110121288, SCN10A (S935F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448859	NM_006514.4(SCN10A):c.2947G>A (p.Glu983Lys)	LOC110121288, SCN10A (E983K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448849	NM_006514.4(SCN10A):c.2964C>T (p.Ile988=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2448844	NM_006514.4(SCN10A):c.3114G>A (p.Arg1038=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2448834	NM_006514.4(SCN10A):c.3093G>A (p.Glu1031=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2441714	NM_006514.4(SCN10A):c.2716del (p.Glu906fs)	SCN10A (E808fs +1 more)	Deletion (frameshift variant)	Episodic pain syndrome, familial, 2	GUncertain significance
Select item 2435664	NM_006514.4(SCN10A):c.5587C>G (p.Arg1863Gly)	SCN10A (R1765G +2 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2	GUncertain significance
Select item 2311612	NM_006514.4(SCN10A):c.2975C>T (p.Thr992Ile)	LOC110121288, SCN10A (T894I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2257874	NM_006514.4(SCN10A):c.3080A>G (p.Lys1027Arg)	LOC110121288, SCN10A (K1027R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2198591	NM_006514.4(SCN10A):c.3228+11C>A	LOC110121288, SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GUncertain significance
Select item 2190280	NM_006514.4(SCN10A):c.3481A>G (p.Met1161Val)	LOC110121288, SCN10A (M1161V +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2181671	NM_006514.4(SCN10A):c.3088-4C>G	LOC110121288, SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GUncertain significance
Select item 2162999	NM_006514.4(SCN10A):c.2832G>A (p.Glu944=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2160409	NM_006514.4(SCN10A):c.3507+13A>C	LOC110121288, SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2145060	NM_006514.4(SCN10A):c.3056G>A (p.Ser1019Asn)	LOC110121288, SCN10A (S1019N +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 2118670	NM_006514.4(SCN10A):c.3352+20C>T	LOC110121288, SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2103181	NM_006514.4(SCN10A):c.3358A>C (p.Ile1120Leu)	LOC110121288, SCN10A (I1119L +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2056532	NM_006514.4(SCN10A):c.3507+8G>A	SCN10A, LOC110121288	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2056252	NM_006514.4(SCN10A):c.3507+16G>C	LOC110121288, SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2051590	NM_006514.4(SCN10A):c.3474C>T (p.Ile1158=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2025741	NM_006514.4(SCN10A):c.3229-11C>T	LOC110121288, SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2003216	NM_006514.4(SCN10A):c.2917G>A (p.Gly973Arg)	LOC110121288, SCN10A (G973R +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1997173	NM_006514.4(SCN10A):c.2901C>A (p.Ala967=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1972502	NM_006514.4(SCN10A):c.3088-20T>G	LOC110121288, SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1969035	NM_006514.4(SCN10A):c.3495C>T (p.Ser1165=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1932334	NM_006514.4(SCN10A):c.3201T>A (p.Asp1067Glu)	LOC110121288, SCN10A (D1067E +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1922182	NM_006514.4(SCN10A):c.3176C>T (p.Pro1059Leu)	LOC110121288, SCN10A (P1059L +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1921410	NM_006514.4(SCN10A):c.3140G>A (p.Ser1047Asn)	LOC110121288, SCN10A (S1046N +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1799441	NM_006514.4(SCN10A):c.3067G>A (p.Glu1023Lys)	LOC110121288, SCN10A (E1023K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1799166	NM_006514.4(SCN10A):c.3041G>A (p.Gly1014Glu)	LOC110121288, SCN10A (G1014E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1798911	NM_006514.4(SCN10A):c.3020A>G (p.Asp1007Gly)	LOC110121288, SCN10A (D909G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1798750	NM_006514.4(SCN10A):c.3006T>G (p.Gly1002=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1797981	NM_006514.4(SCN10A):c.2947G>C (p.Glu983Gln)	LOC110121288, SCN10A (E885Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1797961	NM_006514.4(SCN10A):c.2945A>G (p.Asp982Gly)	LOC110121288, SCN10A (D982G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1797651	NM_006514.4(SCN10A):c.2918G>A (p.Gly973Glu)	LOC110121288, SCN10A (G875E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1797466	NM_006514.4(SCN10A):c.2902A>G (p.Arg968Gly)	SCN10A, LOC110121288 (R968G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1797189	NM_006514.4(SCN10A):c.2882A>T (p.His961Leu)	LOC110121288, SCN10A (H961L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1796876	NM_006514.4(SCN10A):c.2854C>T (p.Pro952Ser)	LOC110121288, SCN10A (P952S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1796588	NM_006514.4(SCN10A):c.2830G>A (p.Glu944Lys)	LOC110121288, SCN10A (E846K +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 1796391	NM_006514.4(SCN10A):c.2818C>A (p.Gln940Lys)	LOC110121288, SCN10A (Q842K +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1796356	NM_006514.4(SCN10A):c.2814_2816delinsTCT (p.Pro939Leu)	LOC110121288, SCN10A (P841L +1 more)	Indel (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1795888	NM_006514.4(SCN10A):c.2779G>C (p.Ala927Pro)	SCN10A, LOC110121288 (A829P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1731959	NM_006514.4(SCN10A):c.3493A>G (p.Ser1165Gly)	LOC110121288, SCN10A (S1164G +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1731896	NM_006514.4(SCN10A):c.3488T>C (p.Leu1163Pro)	LOC110121288, SCN10A (L1162P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1731298	NM_006514.4(SCN10A):c.3424C>T (p.Arg1142Cys)	LOC110121288, SCN10A (R1044C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1731278	NM_006514.4(SCN10A):c.3421G>T (p.Val1141Leu)	LOC110121288, SCN10A (V1140L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1731269	NM_006514.4(SCN10A):c.3420G>T (p.Gln1140His)	LOC110121288, SCN10A (Q1042H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1731170	NM_006514.4(SCN10A):c.3410T>A (p.Val1137Glu)	SCN10A, LOC110121288 (V1136E +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1731119	NM_006514.4(SCN10A):c.3405G>A (p.Trp1135Ter)	LOC110121288, SCN10A (W1134* +2 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 1730917	NM_006514.4(SCN10A):c.3389CCA[1] (p.Thr1131del)	LOC110121288, SCN10A (T1131del +2 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype	GUncertain significance
Select item 1730842	NM_006514.4(SCN10A):c.3384G>C (p.Leu1128=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1730742	NM_006514.4(SCN10A):c.3371C>T (p.Pro1124Leu)	LOC110121288, SCN10A (P1026L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1730627	NM_006514.4(SCN10A):c.3362G>A (p.Arg1121His)	LOC110121288, SCN10A (R1120H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1730617	NM_006514.4(SCN10A):c.3360T>C (p.Ile1120=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1730548	NM_006514.4(SCN10A):c.3356G>C (p.Cys1119Ser)	LOC110121288, SCN10A (C1021S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1730348	NM_006514.4(SCN10A):c.3335A>T (p.Asp1112Val)	LOC110121288, SCN10A (D1014V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1729218	NM_006514.4(SCN10A):c.3233T>C (p.Val1078Ala)	LOC110121288, SCN10A (V1077A +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance

<< First< Prev

Page of 3