ClinVar for Gene (Select 3764) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287659	NM_004982.4(KCNJ8):c.1208C>T (p.Ser403Phe)	KCNJ8 (S403F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3287658	NM_004982.4(KCNJ8):c.504C>T (p.Ile168=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3287657	NM_004982.4(KCNJ8):c.102C>T (p.Ala34=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3287656	NM_004982.4(KCNJ8):c.329T>C (p.Met110Thr)	KCNJ8 (M110T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3244285	NC_000012.11:g.(?_21918657)_(22089608_?)del	ABCC9, KCNJ8	Deletion	Brugada syndrome	GUncertain significance
Select item 3224556	NM_004982.4(KCNJ8):c.762C>T (p.Ile254=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224555	NM_004982.4(KCNJ8):c.442A>G (p.Met148Val)	KCNJ8 (M148V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224554	NM_004982.4(KCNJ8):c.396C>G (p.Leu132=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224553	NM_004982.4(KCNJ8):c.25C>T (p.Pro9Ser)	KCNJ8 (P9S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224552	NM_004982.4(KCNJ8):c.162A>G (p.Gly54=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3113344	NM_004982.4(KCNJ8):c.265A>G (p.Ile89Val)	KCNJ8 (I89V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3022508	NM_004982.4(KCNJ8):c.2dup (p.Met1fs)	KCNJ8 (M1fs)	Duplication (frameshift variant +1 more)	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 2955046	NM_004982.4(KCNJ8):c.1143G>A (p.Arg381=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
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 2913651	NM_004982.4(KCNJ8):c.1122G>A (p.Leu374=)	KCNJ8	Single nucleotide variant (synonymous 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 2864295	NM_004982.4(KCNJ8):c.956A>T (p.Gln319Leu)	KCNJ8 (Q319L)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2814359	NM_004982.4(KCNJ8):c.192G>C (p.Leu64Phe)	KCNJ8 (L64F)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2806166	NM_004982.4(KCNJ8):c.1156A>C (p.Met386Leu)	KCNJ8 (M386L)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2799322	NM_004982.4(KCNJ8):c.1236T>G (p.Phe412Leu)	KCNJ8 (F412L)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2737042	NM_004982.4(KCNJ8):c.584G>A (p.Arg195His)	KCNJ8 (R195H)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2728014	NM_004982.4(KCNJ8):c.55G>A (p.Ala19Thr)	KCNJ8 (A19T)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2727079	NM_004982.4(KCNJ8):c.635T>C (p.Val212Ala)	KCNJ8 (V212A)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2726668	NM_004982.4(KCNJ8):c.1104C>T (p.Thr368=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2722956	NM_004982.4(KCNJ8):c.1205A>G (p.Asn402Ser)	KCNJ8 (N402S)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2684669	GRCh37/hg19 12p12.1(chr12:21764770-22085125)x3	ABCC9, KCNJ8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2586235	NM_004982.4(KCNJ8):c.1214T>C (p.Leu405Pro)	KCNJ8 (L405P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2586234	NM_004982.4(KCNJ8):c.27G>T (p.Pro9=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2586233	NM_004982.4(KCNJ8):c.27G>C (p.Pro9=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2586232	NM_004982.4(KCNJ8):c.27G>A (p.Pro9=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2586231	NM_004982.4(KCNJ8):c.43G>T (p.Ala15Ser)	KCNJ8 (A15S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2586229	NM_004982.4(KCNJ8):c.49A>G (p.Ile17Val)	KCNJ8 (I17V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2586228	NM_004982.4(KCNJ8):c.89G>A (p.Arg30His)	KCNJ8 (R30H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2586227	NM_004982.4(KCNJ8):c.1212C>T (p.Ser404=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2586226	NM_004982.4(KCNJ8):c.336A>G (p.Lys112=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2577972	NM_004982.4(KCNJ8):c.140A>G (p.His47Arg)	KCNJ8 (H47R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2565924	NM_004982.4(KCNJ8):c.103C>G (p.Arg35Gly)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2565923	NM_004982.4(KCNJ8):c.1203C>T (p.Asn401=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2565922	NM_004982.4(KCNJ8):c.1056G>A (p.Arg352=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2565921	NM_004982.4(KCNJ8):c.1050T>C (p.Ala350=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2565920	NM_004982.4(KCNJ8):c.39G>T (p.Val13=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2466954	NM_004982.4(KCNJ8):c.119G>C (p.Ser40Thr)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2451399	NM_004982.4(KCNJ8):c.707C>G (p.Pro236Arg)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2451398	NM_004982.4(KCNJ8):c.936C>T (p.Ser312=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2451397	NM_004982.4(KCNJ8):c.538A>G (p.Lys180Glu)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2451396	NM_004982.4(KCNJ8):c.55G>T (p.Ala19Ser)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2451395	NM_004982.4(KCNJ8):c.727A>G (p.Ile243Val)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2451394	NM_004982.4(KCNJ8):c.952A>G (p.Ile318Val)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2425251	NC_000012.11:g.(?_21918657)_(22017431_?)dup	ABCC9, KCNJ8	Duplication	Dilated cardiomyopathy 1O +1 more	GUncertain significance
Select item 2423437	NC_000012.11:g.(?_20522219)_(22089608_?)dup	ABCC9, GOLT1B +13 more	Duplication	not provided	GUncertain significance
Select item 2419829	NM_004982.4(KCNJ8):c.31G>T (p.Glu11Ter)	KCNJ8	Single nucleotide variant	Brugada syndrome	GUncertain significance
Select item 2269854	NM_004982.4(KCNJ8):c.1077T>A (p.Asp359Glu)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2203063	NM_004982.4(KCNJ8):c.1196G>T (p.Arg399Leu)	KCNJ8	Single nucleotide variant	Brugada syndrome	GUncertain significance
Select item 2195287	NM_004982.4(KCNJ8):c.789C>T (p.Ala263=)	KCNJ8	Single nucleotide variant	Brugada syndrome	GLikely benign
Select item 2181361	NM_004982.4(KCNJ8):c.1158G>A (p.Met386Ile)	KCNJ8	Single nucleotide variant	Brugada syndrome	GUncertain significance
Select item 2150843	NM_004982.4(KCNJ8):c.992AAG[1] (p.Glu332del)	KCNJ8	Microsatellite	Brugada syndrome	GUncertain significance
Select item 2131934	NM_004982.4(KCNJ8):c.1237A>G (p.Met413Val)	KCNJ8	Single nucleotide variant	Brugada syndrome	GUncertain significance
Select item 2128890	NM_004982.4(KCNJ8):c.66G>A (p.Leu22=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2126259	NM_004982.4(KCNJ8):c.941T>C (p.Ile314Thr)	KCNJ8	Single nucleotide variant	Brugada syndrome	GUncertain significance
Select item 2122840	NM_004982.4(KCNJ8):c.374+8T>C	KCNJ8	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2120099	NM_004982.4(KCNJ8):c.985A>G (p.Thr329Ala)	KCNJ8	Single nucleotide variant	Brugada syndrome	GUncertain significance
Select item 2107025	NM_004982.4(KCNJ8):c.443T>C (p.Met148Thr)	KCNJ8	Single nucleotide variant	Brugada syndrome	GUncertain significance
Select item 2102827	NM_004982.4(KCNJ8):c.296G>C (p.Gly99Ala)	KCNJ8	Single nucleotide variant	Brugada syndrome	GUncertain significance
Select item 2084788	NM_004982.4(KCNJ8):c.706C>T (p.Pro236Ser)	KCNJ8	Single nucleotide variant	Brugada syndrome	GUncertain significance
Select item 1983777	NM_004982.4(KCNJ8):c.735A>G (p.Gln245=)	KCNJ8	Single nucleotide variant	Brugada syndrome	GLikely benign
Select item 1957726	NM_004982.4(KCNJ8):c.717G>A (p.Glu239=)	KCNJ8	Single nucleotide variant	Brugada syndrome	GLikely benign
Select item 1912102	NM_004982.4(KCNJ8):c.1192A>G (p.Ile398Val)	KCNJ8	Single nucleotide variant	Brugada syndrome	GUncertain significance
Select item 1906712	NM_004982.4(KCNJ8):c.334_348del (p.Lys112_Glu116del)	KCNJ8	Deletion	Brugada syndrome	GUncertain significance
Select item 1905874	NM_004982.4(KCNJ8):c.470C>T (p.Thr157Met)	KCNJ8	Single nucleotide variant	Brugada syndrome	GUncertain significance
Select item 1797403	NM_004982.4(KCNJ8):c.289G>C (p.Ala97Pro)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1794938	NM_004982.4(KCNJ8):c.1110A>G (p.Gln370=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1786057	NM_004982.4(KCNJ8):c.210C>T (p.Arg70=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1782248	NM_004982.4(KCNJ8):c.1067G>A (p.Arg356Gln)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1781486	NM_004982.4(KCNJ8):c.1065C>A (p.Ala355=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1778395	NM_004982.4(KCNJ8):c.1055G>A (p.Arg352Gln)	KCNJ8	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 1774833	NM_004982.4(KCNJ8):c.153T>G (p.Arg51=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1773740	NM_004982.4(KCNJ8):c.148A>G (p.Ile50Val)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1772858	NM_004982.4(KCNJ8):c.1002G>C (p.Val334=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1772236	NM_004982.4(KCNJ8):c.141T>C (p.His47=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1770106	NM_004982.4(KCNJ8):c.132C>T (p.Asn44=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1768537	NM_004982.4(KCNJ8):c.98A>G (p.Lys33Arg)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1768389	NM_004982.4(KCNJ8):c.984G>A (p.Val328=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1767724	NM_004982.4(KCNJ8):c.966C>T (p.His322=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1767433	NM_004982.4(KCNJ8):c.957A>G (p.Gln319=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1764263	NM_004982.4(KCNJ8):c.867C>G (p.Asp289Glu)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1763736	NM_004982.4(KCNJ8):c.852C>A (p.Asp284Glu)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1763566	NM_004982.4(KCNJ8):c.848C>T (p.Thr283Ile)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1763530	NM_004982.4(KCNJ8):c.1263A>G (p.Thr421=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1763480	NM_004982.4(KCNJ8):c.846A>C (p.Ala282=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1761943	NM_004982.4(KCNJ8):c.808G>A (p.Val270Met)	KCNJ8	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 1761738	NM_004982.4(KCNJ8):c.802T>C (p.Cys268Arg)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1761039	NM_004982.4(KCNJ8):c.788C>T (p.Ala263Val)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1760146	NM_004982.4(KCNJ8):c.768C>T (p.Ser256=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1760026	NM_004982.4(KCNJ8):c.765G>C (p.Glu255Asp)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1759875	NM_004982.4(KCNJ8):c.762C>A (p.Ile254=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1758705	NM_004982.4(KCNJ8):c.1242T>A (p.Thr414=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign

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