ClinVar for MedGen (Select 395632) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 551

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065473	NM_201596.3(CACNB2):c.121-3_121-2insTTTTTTTTTTGT	CACNB2	Microsatellite (intron variant)	Brugada syndrome 4	GUncertain significance
Select item 3023815	NM_201596.3(CACNB2):c.1528A>G (p.Ile510Val)	CACNB2 (I510V +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 3022293	NM_201596.3(CACNB2):c.885+20A>T	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 3021001	NM_201596.3(CACNB2):c.1074C>A (p.Ile358=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 3020822	NM_201596.3(CACNB2):c.1752A>C (p.Ser584=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 3019718	NM_201596.3(CACNB2):c.944+12A>C	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 3015897	NM_201596.3(CACNB2):c.804+17A>G	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 3014743	NM_201596.3(CACNB2):c.333+14C>T	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 3014244	NM_201596.3(CACNB2):c.786A>G (p.Arg262=)	CACNB2	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 4	GLikely benign
Select item 3014116	NM_201596.3(CACNB2):c.885+4G>A	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GUncertain significance
Select item 3013611	NM_201596.3(CACNB2):c.1602C>T (p.Ser534=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 3009815	NM_201596.3(CACNB2):c.1489-11T>C	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 3002546	NM_201596.3(CACNB2):c.252C>T (p.Ser84=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2994221	NM_201596.3(CACNB2):c.886-19_886-17del	CACNB2	Deletion (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2989512	NM_201596.3(CACNB2):c.594-12G>A	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2983586	NM_201596.3(CACNB2):c.944+15A>T	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2982152	NM_201596.3(CACNB2):c.1530C>T (p.Ile510=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2977853	NM_201596.3(CACNB2):c.457-20G>A	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2976804	NM_201596.3(CACNB2):c.334-18T>C	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2968595	NM_201596.3(CACNB2):c.297G>C (p.Ala99=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2966677	NM_201596.3(CACNB2):c.1726C>T (p.His576Tyr)	CACNB2 (H483Y +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2966183	NM_201596.3(CACNB2):c.910C>G (p.Leu304Val)	CACNB2 (L211V +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2965412	NM_201596.3(CACNB2):c.1290T>C (p.Ala430=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2962152	NM_201596.3(CACNB2):c.214-10T>C	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2959809	NM_201596.3(CACNB2):c.1302+11T>G	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2955699	NM_201596.3(CACNB2):c.831G>T (p.Val277=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2920796	NM_201596.3(CACNB2):c.120+379A>G	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GBenign
Select item 2917081	NM_201596.3(CACNB2):c.1753C>G (p.His585Asp)	CACNB2 (H499D +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2916840	NM_201596.3(CACNB2):c.1302+12_1302+16dup	CACNB2	Duplication (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2912288	NM_201596.3(CACNB2):c.1252C>T (p.His418Tyr)	CACNB2 (H380Y +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2910663	NM_201596.3(CACNB2):c.885+3G>A	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GUncertain significance
Select item 2908750	NM_201596.3(CACNB2):c.644C>A (p.Ser215Tyr)	CACNB2 (S160Y +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2905057	NM_201596.3(CACNB2):c.1488+14T>A	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2900532	NM_201596.3(CACNB2):c.1368T>C (p.Tyr456=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2900181	NM_201596.3(CACNB2):c.1207-19A>T	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2899847	NM_201596.3(CACNB2):c.400C>G (p.Pro134Ala)	CACNB2 (P79A +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2897249	NM_201596.3(CACNB2):c.1185T>C (p.Tyr395=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2897227	NM_201596.3(CACNB2):c.1108T>C (p.Leu370=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2891866	NM_201596.3(CACNB2):c.1303-3C>T	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GUncertain significance
Select item 2891809	NM_201596.3(CACNB2):c.768C>G (p.Pro256=)	CACNB2	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 4	GLikely benign
Select item 2886271	NM_201596.3(CACNB2):c.1715A>T (p.Glu572Val)	CACNB2 (E486V +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2885395	NM_201596.3(CACNB2):c.1296T>C (p.Cys432=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2885267	NM_201596.3(CACNB2):c.214-20A>G	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2884561	NM_201596.3(CACNB2):c.945-12T>C	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2872152	NM_201596.3(CACNB2):c.699T>C (p.Asp233=)	CACNB2	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 4	GLikely benign
Select item 2856025	NM_201596.3(CACNB2):c.1404C>T (p.Ser468=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2853972	NM_201596.3(CACNB2):c.493A>G (p.Lys165Glu)	CACNB2 (K117E +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2853207	NM_201596.3(CACNB2):c.34_35insGAAGTCTTGTATAACTAACAGCATCAGTTTTGCCCGTTTGTGTTTTTTTTTTTTTTTTTT (p.Ter661=)	CACNB2	Insertion (no sequence alteration)	Brugada syndrome 4	GUncertain significance
Select item 2849749	NM_201596.3(CACNB2):c.670+16A>G	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2846096	NM_201596.3(CACNB2):c.330A>G (p.Ala110=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2843404	NM_201596.3(CACNB2):c.1793G>C (p.Ser598Thr)	CACNB2 (S532T +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2843277	NM_201596.3(CACNB2):c.1027G>A (p.Glu343Lys)	CACNB2 (E257K +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2837074	NM_201596.3(CACNB2):c.944+11C>A	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2828352	NM_201596.3(CACNB2):c.1281T>C (p.Asp427=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2825658	NM_201596.3(CACNB2):c.1112T>C (p.Val371Ala)	CACNB2 (V285A +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2817836	NM_201596.3(CACNB2):c.1207-18A>C	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2812090	NM_201596.3(CACNB2):c.593+4T>C	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GUncertain significance
Select item 2804127	NM_201596.3(CACNB2):c.1731C>T (p.Asp577=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2803243	NM_201596.3(CACNB2):c.1934A>G (p.Lys645Arg)	CACNB2 (K590R +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2799836	NM_201596.3(CACNB2):c.405G>C (p.Val135=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2796633	NM_201596.3(CACNB2):c.1701C>G (p.Tyr567Ter)	CACNB2 (Y501* +10 more)	Single nucleotide variant (nonsense)	Brugada syndrome 4	GUncertain significance
Select item 2782532	NM_201596.3(CACNB2):c.441T>C (p.Phe147=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2781990	NM_201596.3(CACNB2):c.1302+13T>A	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2778054	NM_201596.3(CACNB2):c.805-8C>T	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2777621	NM_201596.3(CACNB2):c.1607C>G (p.Ala536Gly)	CACNB2 (A450G +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2777353	NM_201596.3(CACNB2):c.944+3_944+6del	CACNB2	Deletion (splice donor variant)	Brugada syndrome 4	GUncertain significance
Select item 2773197	NM_201596.3(CACNB2):c.1489-4C>G	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2771083	NM_201596.3(CACNB2):c.1467C>T (p.Pro489=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2765412	NM_201596.3(CACNB2):c.321G>A (p.Leu107=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2764218	NM_201596.3(CACNB2):c.743C>G (p.Pro248Arg)	CACNB2 (P194R +4 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 4	GUncertain significance
Select item 2753546	NM_201596.3(CACNB2):c.940G>A (p.Gly314Arg)	CACNB2 (G259R +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2746335	NM_201596.3(CACNB2):c.1551A>G (p.Glu517=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2739473	NM_201596.3(CACNB2):c.1206+22del	CACNB2	Deletion (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2738820	NM_201596.3(CACNB2):c.489G>A (p.Leu163=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2731607	NM_201596.3(CACNB2):c.1488+15TA[5]	CACNB2	Microsatellite (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2728363	NM_201596.3(CACNB2):c.1752A>G (p.Ser584=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2728264	NM_201596.3(CACNB2):c.1303-18G>C	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2723768	NM_201596.3(CACNB2):c.457-17T>A	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2720016	NM_201596.3(CACNB2):c.1130_1153del (p.Thr377_Leu384del)	CACNB2	Deletion (inframe_deletion)	Brugada syndrome 4	GUncertain significance
Select item 2719777	NM_201596.3(CACNB2):c.214-15C>T	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2707785	NM_201596.3(CACNB2):c.1851C>T (p.Asp617=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2699433	NM_201596.3(CACNB2):c.1657G>A (p.Glu553Lys)	CACNB2 (E501K +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2698121	NM_201596.3(CACNB2):c.744C>G (p.Pro248=)	CACNB2	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 4	GLikely benign
Select item 2697237	NM_201596.3(CACNB2):c.600A>G (p.Ser200=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2584830	NM_201596.3(CACNB2):c.3G>A (p.Met1Ile)	CACNB2 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	Brugada syndrome 4	GUncertain significance
Select item 2560370	NM_201596.3(CACNB2):c.1105C>A (p.Gln369Lys)	CACNB2 (Q276K +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +1 more	GUncertain significance
Select item 2441633	NM_201596.3(CACNB2):c.804+664C>T	CACNB2 (R214W +1 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 4	GUncertain significance
Select item 2427689	NC_000010.10:g.(?_18807245)_(18828653_?)dup	CACNB2	Duplication	Brugada syndrome 4	GUncertain significance
Select item 2427688	NC_000010.10:g.(?_18629856)_(18629926_?)dup	CACNB2	Duplication	Brugada syndrome 4	GUncertain significance
Select item 2417892	NM_201596.3(CACNB2):c.1102T>C (p.Leu368=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2415928	NM_201596.3(CACNB2):c.1468A>G (p.Thr490Ala)	CACNB2 (T397A +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2203568	NM_201596.3(CACNB2):c.1489G>A (p.Gly497Ser)	CACNB2 (G404S +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2199783	NM_201590.3(CACNB2):c.26C>T (p.Pro9Leu)	CACNB2 (P9L)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 4	GUncertain significance
Select item 2198422	NM_201596.3(CACNB2):c.1492T>G (p.Ser498Ala)	CACNB2 (S444A +9 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2194840	NM_201596.3(CACNB2):c.456+10A>G	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2191690	NM_201596.3(CACNB2):c.1960_1970dup (p.Tyr657Ter)	CACNB2 (Y564* +9 more)	Duplication (nonsense +1 more)	Brugada syndrome 4 +1 more	GUncertain significance
Select item 2188404	NM_201596.3(CACNB2):c.903A>G (p.Gln301=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2183331	NM_201596.3(CACNB2):c.1962G>A (p.Arg654=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2183206	NM_201596.3(CACNB2):c.1657G>C (p.Glu553Gln)	CACNB2 (E460Q +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2176810	NM_201596.3(CACNB2):c.1055-10C>G	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign

<< First< Prev

Page of 6