KCNJ8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 146315	GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1	ABCC9, AEBP2 +101 more	Copy number loss	See cases	GPathogenic
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	ABCC9, AEBP2 +133 more	Copy number loss	See cases	GLikely pathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic
Select item 1283823	NM_004982.4(KCNJ8):c.*255T>A	KCNJ8	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 515597	NM_004982.4(KCNJ8):c.1266G>A (p.Ser422=)	KCNJ8	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 157543	NM_004982.4(KCNJ8):c.1265C>T (p.Ser422Leu)	KCNJ8 (S422L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1763530	NM_004982.4(KCNJ8):c.1263A>G (p.Thr421=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1142912	NM_004982.4(KCNJ8):c.1257A>G (p.Gln419=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1758705	NM_004982.4(KCNJ8):c.1242T>A (p.Thr414=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2131934	NM_004982.4(KCNJ8):c.1237A>G (p.Met413Val)	KCNJ8	Single nucleotide 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 1016861	NM_004982.4(KCNJ8):c.1232A>C (p.Gln411Pro)	KCNJ8 (Q411P)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 660991	NM_004982.4(KCNJ8):c.1218G>A (p.Met406Ile)	KCNJ8 (M406I)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
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 2586227	NM_004982.4(KCNJ8):c.1212C>T (p.Ser404=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 519254	NM_004982.4(KCNJ8):c.1192_1209dup (p.Ile398_Ser403dup)	KCNJ8	Duplication (inframe_insertion)	Cardiovascular phenotype	GUncertain significance
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 2722956	NM_004982.4(KCNJ8):c.1205A>G (p.Asn402Ser)	KCNJ8 (N402S)	Single nucleotide variant (missense variant)	Brugada syndrome	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 1421001	NM_004982.4(KCNJ8):c.1179_1196dup (p.Ile398_Ser403dup)	KCNJ8	Duplication (inframe_insertion)	Brugada syndrome	GUncertain significance
Select item 2203063	NM_004982.4(KCNJ8):c.1196G>T (p.Arg399Leu)	KCNJ8	Single nucleotide variant	Brugada syndrome	GUncertain significance
Select item 1480643	NM_004982.4(KCNJ8):c.1196G>A (p.Arg399Gln)	KCNJ8 (R399Q)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 691727	NM_004982.4(KCNJ8):c.1194C>G (p.Ile398Met)	KCNJ8 (I398M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1912102	NM_004982.4(KCNJ8):c.1192A>G (p.Ile398Val)	KCNJ8	Single nucleotide variant	Brugada syndrome	GUncertain significance
Select item 180388	NM_004982.4(KCNJ8):c.1182G>C (p.Arg394Ser)	KCNJ8 (R394S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1037543	NM_004982.4(KCNJ8):c.1176G>A (p.Met392Ile)	KCNJ8 (M392I)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1740265	NM_004982.4(KCNJ8):c.1174A>G (p.Met392Val)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 664966	NM_004982.4(KCNJ8):c.1166A>G (p.Asn389Ser)	KCNJ8 (N389S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2181361	NM_004982.4(KCNJ8):c.1158G>A (p.Met386Ile)	KCNJ8	Single nucleotide 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 1465315	NM_004982.4(KCNJ8):c.1148G>A (p.Arg383His)	KCNJ8 (R383H)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 953104	NM_004982.4(KCNJ8):c.1145A>G (p.Lys382Arg)	KCNJ8 (K382R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2955046	NM_004982.4(KCNJ8):c.1143G>A (p.Arg381=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2913651	NM_004982.4(KCNJ8):c.1122G>A (p.Leu374=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1794938	NM_004982.4(KCNJ8):c.1110A>G (p.Gln370=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2726668	NM_004982.4(KCNJ8):c.1104C>T (p.Thr368=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2269854	NM_004982.4(KCNJ8):c.1077T>A (p.Asp359Glu)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 652685	NM_004982.4(KCNJ8):c.1070A>G (p.Glu357Gly)	KCNJ8 (E357G)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1782248	NM_004982.4(KCNJ8):c.1067G>A (p.Arg356Gln)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 415916	NM_004982.4(KCNJ8):c.1066C>A (p.Arg356=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1781486	NM_004982.4(KCNJ8):c.1065C>A (p.Ala355=)	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 1778395	NM_004982.4(KCNJ8):c.1055G>A (p.Arg352Gln)	KCNJ8	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 1384248	NM_004982.4(KCNJ8):c.1055G>T (p.Arg352Leu)	KCNJ8 (R352L)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1465807	NM_004982.4(KCNJ8):c.1054C>T (p.Arg352Trp)	KCNJ8 (R352W)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 2565921	NM_004982.4(KCNJ8):c.1050T>C (p.Ala350=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 449327	NM_004982.4(KCNJ8):c.1036G>A (p.Val346Ile)	KCNJ8 (V346I)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1772858	NM_004982.4(KCNJ8):c.1002G>C (p.Val334=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 137998	NM_004982.4(KCNJ8):c.1001T>C (p.Val334Ala)	KCNJ8 (V334A)	Single nucleotide variant (missense variant)	Brugada syndrome +4 more	GBenign/Likely benign
Select item 2150843	NM_004982.4(KCNJ8):c.992AAG[1] (p.Glu332del)	KCNJ8	Microsatellite	Brugada syndrome	GUncertain significance
Select item 2120099	NM_004982.4(KCNJ8):c.985A>G (p.Thr329Ala)	KCNJ8	Single nucleotide variant	Brugada syndrome	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 1391140	NM_004982.4(KCNJ8):c.980T>C (p.Ile327Thr)	KCNJ8 (I327T)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 1636702	NM_004982.4(KCNJ8):c.969C>A (p.Arg323=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	GLikely benign
Select item 1470337	NM_004982.4(KCNJ8):c.967C>T (p.Arg323Cys)	KCNJ8 (R323C)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
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 2864295	NM_004982.4(KCNJ8):c.956A>T (p.Gln319Leu)	KCNJ8 (Q319L)	Single nucleotide variant (missense variant)	Brugada syndrome	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 2126259	NM_004982.4(KCNJ8):c.941T>C (p.Ile314Thr)	KCNJ8	Single nucleotide variant	Brugada syndrome	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 507454	NM_004982.4(KCNJ8):c.897G>A (p.Val299=)	KCNJ8	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 724286	NM_004982.4(KCNJ8):c.870G>A (p.Leu290=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	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 221023	NM_004982.4(KCNJ8):c.855G>A (p.Leu285=)	KCNJ8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 1763480	NM_004982.4(KCNJ8):c.846A>C (p.Ala282=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 216600	NM_004982.4(KCNJ8):c.821G>A (p.Arg274His)	KCNJ8 (R274H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 810767	NM_004982.4(KCNJ8):c.820C>T (p.Arg274Cys)	KCNJ8 (R274C)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GUncertain significance
Select item 1643273	NM_004982.4(KCNJ8):c.819G>A (p.Lys273=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome	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 703277	NM_004982.4(KCNJ8):c.807C>T (p.His269=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1761738	NM_004982.4(KCNJ8):c.802T>C (p.Cys268Arg)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 221022	NM_004982.4(KCNJ8):c.793T>C (p.Leu265=)	KCNJ8	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 2195287	NM_004982.4(KCNJ8):c.789C>T (p.Ala263=)	KCNJ8	Single nucleotide variant	Brugada syndrome	GLikely benign
Select item 1761039	NM_004982.4(KCNJ8):c.788C>T (p.Ala263Val)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1018317	NM_004982.4(KCNJ8):c.786G>A (p.Val262=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome	GUncertain significance
Select item 1020159	NM_004982.4(KCNJ8):c.778T>C (p.Phe260Leu)	KCNJ8 (F260L)	Single nucleotide variant (missense variant)	Brugada syndrome	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 3224556	NM_004982.4(KCNJ8):c.762C>T (p.Ile254=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1506345	NM_004982.4(KCNJ8):c.760A>G (p.Ile254Val)	KCNJ8 (I254V)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	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 2891686	NM_004982.4(KCNJ8):c.753T>G (p.Asp251Glu)	KCNJ8 (D251E)	Single nucleotide variant (missense 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 2451395	NM_004982.4(KCNJ8):c.727A>G (p.Ile243Val)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 234999	NM_004982.4(KCNJ8):c.720G>A (p.Val240=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 573418	NM_004982.4(KCNJ8):c.719T>C (p.Val240Ala)	KCNJ8 (V240A)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 1957726	NM_004982.4(KCNJ8):c.717G>A (p.Glu239=)	KCNJ8	Single nucleotide variant	Brugada syndrome	GLikely benign
Select item 1708157	NM_004982.4(KCNJ8):c.712G>A (p.Gly238Arg)	KCNJ8 (G238R)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type	GLikely pathogenic

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