ClinVar for MedGen (Select 222975) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024479	NM_000335.5(SCN5A):c.1234del (p.Val412fs)	SCN5A (V412fs)	Deletion (frameshift variant +1 more)	Brugada syndrome	GLikely pathogenic
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 3022935	NM_015141.4(GPD1L):c.675C>G (p.Thr225=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 3022871	NM_001377540.1(SLMAP):c.2139-7A>G	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 3022508	NM_004982.4(KCNJ8):c.2dup (p.Met1fs)	KCNJ8 (M1fs)	Duplication (frameshift variant +1 more)	Brugada syndrome	GUncertain significance
Select item 3021841	NM_015141.4(GPD1L):c.828C>A (p.Ala276=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 3019672	NM_015141.4(GPD1L):c.618+15_618+16del	GPD1L	Deletion (intron variant)	Brugada syndrome	GLikely benign
Select item 3018661	NM_015141.4(GPD1L):c.366+7C>T	GPD1L	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 3017539	NM_015141.4(GPD1L):c.366+13C>A	GPD1L	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 3016907	NM_000722.4(CACNA2D1):c.1009T>A (p.Phe337Ile)	CACNA2D1 (F337I)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 3016284	NM_000722.4(CACNA2D1):c.2574+17A>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 3012968	NM_000722.4(CACNA2D1):c.659-19_659-17del	CACNA2D1	Deletion (intron variant)	Brugada syndrome	GLikely benign
Select item 3012952	NM_001377540.1(SLMAP):c.*37G>A	SLMAP (A792T +8 more)	Single nucleotide variant (missense variant +2 more)	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 3011837	NM_006514.4(SCN10A):c.5853G>T (p.Leu1951=)	SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 3009914	NM_006514.4(SCN10A):c.1755+9G>T	SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 3009775	NM_000722.4(CACNA2D1):c.2727+17G>C	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 3008761	NM_001377540.1(SLMAP):c.929C>T (p.Ala310Val)	SLMAP (A310V)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 3008365	NM_000722.4(CACNA2D1):c.836T>C (p.Met279Thr)	CACNA2D1 (M279T)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 3007734	NM_000722.4(CACNA2D1):c.1362+2_1362+5dup	CACNA2D1, CACNA2D1-AS1	Duplication (splice donor variant)	Brugada syndrome	GUncertain significance
Select item 3006109	NM_000722.4(CACNA2D1):c.858T>C (p.Asp286=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2999849	NM_001377540.1(SLMAP):c.*94C>G	SLMAP (P362A +8 more)	Single nucleotide variant (missense variant +2 more)	Brugada syndrome	GUncertain significance
Select item 2999184	NM_001377540.1(SLMAP):c.198+13C>T	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2997930	NM_001377540.1(SLMAP):c.473C>T (p.Pro158Leu)	SLMAP (P158L)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 2996158	NM_015141.4(GPD1L):c.426G>A (p.Met142Ile)	GPD1L (M142I)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2992460	NM_000722.4(CACNA2D1):c.3167A>T (p.Tyr1056Phe)	CACNA2D1 (Y1056F +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2991200	NM_006514.4(SCN10A):c.1093-14C>T	SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2988349	NM_015141.4(GPD1L):c.414C>G (p.Ile138Met)	GPD1L (I138M)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2986999	NM_001377540.1(SLMAP):c.1483A>C (p.Lys495Gln)	SLMAP (K474Q +6 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 2986847	NM_015141.4(GPD1L):c.1050T>C (p.His350=)	GPD1L	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 2986201	NM_000722.4(CACNA2D1):c.660T>C (p.Ala220=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2984007	NM_006514.4(SCN10A):c.3591T>C (p.Phe1197=)	SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2983361	NM_001377540.1(SLMAP):c.2020+15T>C	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2982089	NM_000722.4(CACNA2D1):c.1774C>T (p.Pro592Ser)	CACNA2D1 (P592S +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2979758	NM_006514.4(SCN10A):c.337T>C (p.Phe113Leu)	SCN10A (F113L)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2979706	NM_004982.4(KCNJ8):c.483C>T (p.Leu161=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2976925	NM_000722.4(CACNA2D1):c.168G>A (p.Gln56=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2974969	NM_006514.4(SCN10A):c.1290+9G>T	SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2974136	NM_006514.4(SCN10A):c.1560C>T (p.Val520=)	SCN10A	Single nucleotide variant (intron variant +1 more)	Brugada syndrome	GLikely benign
Select item 2968678	NM_001377540.1(SLMAP):c.111T>C (p.Cys37=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome	GLikely benign
Select item 2968664	NM_000722.4(CACNA2D1):c.1642G>C (p.Glu548Gln)	CACNA2D1 (E567Q +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2968534	NM_012282.4(KCNE5):c.81C>T (p.Ser27=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2964577	NM_001377540.1(SLMAP):c.1238-20G>A	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2964152	NM_006514.4(SCN10A):c.117G>C (p.Glu39Asp)	SCN10A (E39D)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2961726	NM_001377540.1(SLMAP):c.1794A>C (p.Arg598=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome	GLikely benign
Select item 2960571	NM_012282.4(KCNE5):c.124G>A (p.Val42Met)	KCNE5 (V42M)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2958690	NM_006514.4(SCN10A):c.3780T>A (p.Ala1260=)	SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2958145	NM_000722.4(CACNA2D1):c.729-16A>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2955580	NM_000722.4(CACNA2D1):c.178-12T>C	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2955560	NM_000722.4(CACNA2D1):c.865G>A (p.Val289Met)	CACNA2D1 (V289M)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2955446	NM_015141.4(GPD1L):c.9G>A (p.Ala3=)	GPD1L, LOC129936414	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2955046	NM_004982.4(KCNJ8):c.1143G>A (p.Arg381=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2920561	NM_015141.4(GPD1L):c.929G>T (p.Arg310Leu)	GPD1L (R310L)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2920026	NM_000722.4(CACNA2D1):c.2968A>G (p.Ile990Val)	CACNA2D1 (I1002V +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2919774	NM_001377540.1(SLMAP):c.720T>G (p.Leu240=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome	GLikely benign
Select item 2919731	NM_006514.4(SCN10A):c.692-20C>T	SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2919636	NM_000722.4(CACNA2D1):c.1797-14T>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GUncertain significance
Select item 2919332	NM_006514.4(SCN10A):c.3813G>A (p.Val1271=)	SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2918930	NM_000722.4(CACNA2D1):c.3130C>T (p.Pro1044Ser)	CACNA2D1 (P1044S +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2918715	NM_004982.4(KCNJ8):c.757C>A (p.Pro253Thr)	KCNJ8 (P253T)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2918323	NM_015141.4(GPD1L):c.483G>A (p.Glu161=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2918194	NM_006514.4(SCN10A):c.5223T>C (p.Phe1741=)	SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2915273	NM_000722.4(CACNA2D1):c.1122C>G (p.Asn374Lys)	CACNA2D1 (N374K)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2915025	NM_015141.4(GPD1L):c.618+19dup	GPD1L	Duplication (intron variant)	Brugada syndrome	GBenign
Select item 2914869	NM_006514.4(SCN10A):c.5163T>A (p.Ile1721=)	SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2914579	NM_006514.4(SCN10A):c.390-18T>G	SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2914047	NM_006514.4(SCN10A):c.4570G>A (p.Val1524Ile)	SCN10A (V1426I +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2913887	NM_001377540.1(SLMAP):c.1442-3T>C	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GUncertain significance
Select item 2913651	NM_004982.4(KCNJ8):c.1122G>A (p.Leu374=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2913086	NM_001377540.1(SLMAP):c.573G>T (p.Arg191=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome	GLikely benign
Select item 2912439	NM_012282.4(KCNE5):c.135T>C (p.Pro45=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2911905	NM_015141.4(GPD1L):c.44A>G (p.Asn15Ser)	GPD1L, LOC129936414 (N15S)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2911723	NM_006514.4(SCN10A):c.474T>C (p.Tyr158=)	SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2911378	NM_000722.4(CACNA2D1):c.873A>C (p.Val291=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2911330	NM_000722.4(CACNA2D1):c.178-19T>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2909148	NM_001377540.1(SLMAP):c.2361G>T (p.Met787Ile)	SLMAP (M749I +15 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 2907235	NM_006514.4(SCN10A):c.2107-6T>C	SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2906670	NM_006514.4(SCN10A):c.3732T>A (p.Ala1244=)	SCN10A	Single nucleotide variant (synonymous variant)	SCN10A-related condition +1 more	GLikely benign
Select item 2906288	NM_000722.4(CACNA2D1):c.1164A>T (p.Ser388=)	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2905826	NM_006514.4(SCN10A):c.691+15A>G	SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2904884	NM_015141.4(GPD1L):c.382C>T (p.Pro128Ser)	GPD1L (P128S)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2904463	NM_001377540.1(SLMAP):c.2123A>G (p.Glu708Gly)	SLMAP (E225G +15 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 2904255	NM_000722.4(CACNA2D1):c.3242G>T (p.Trp1081Leu)	CACNA2D1 (W1081L +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2902389	NM_001377540.1(SLMAP):c.413G>C (p.Arg138Pro)	SLMAP (R138P)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 2902210	NM_001377540.1(SLMAP):c.519+16G>A	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2899611	NM_000722.4(CACNA2D1):c.2503-7T>C	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2898686	NM_015141.4(GPD1L):c.960-8C>T	GPD1L	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2898503	NM_006514.4(SCN10A):c.1107T>C (p.Ser369=)	SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2898247	NM_001377540.1(SLMAP):c.2403G>A (p.Gln801=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome	GLikely benign
Select item 2898191	NM_001377540.1(SLMAP):c.275G>A (p.Ser92Asn)	SLMAP (S92N)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 2897606	NM_001377540.1(SLMAP):c.828+16A>G	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2896966	NM_006514.4(SCN10A):c.5617C>T (p.Leu1873Phe)	SCN10A (L1775F +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2895997	NM_006514.4(SCN10A):c.600-16A>G	SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2895758	NM_001377540.1(SLMAP):c.1699+13C>T	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2893983	NM_015141.4(GPD1L):c.959+20A>T	GPD1L	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2893351	NM_015141.4(GPD1L):c.959+15C>T	GPD1L	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2891686	NM_004982.4(KCNJ8):c.753T>G (p.Asp251Glu)	KCNJ8 (D251E)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2891432	NM_012282.4(KCNE5):c.322G>A (p.Ala108Thr)	KCNE5 (A108T)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2890676	NM_006514.4(SCN10A):c.4833G>T (p.Gly1611=)	SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign

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