"Ambry Genetics"[submitter] AND "KCNJ8"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1758705	NM_004982.4(KCNJ8):c.1242T>A (p.Thr414=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 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 2565923	NM_004982.4(KCNJ8):c.1203C>T (p.Asn401=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 180388	NM_004982.4(KCNJ8):c.1182G>C (p.Arg394Ser)	KCNJ8 (R394S)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	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 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 1794938	NM_004982.4(KCNJ8):c.1110A>G (p.Gln370=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 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 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 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)	Cardiovascular phenotype +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 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 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 2451394	NM_004982.4(KCNJ8):c.952A>G (p.Ile318Val)	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 507454	NM_004982.4(KCNJ8):c.897G>A (p.Val299=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 724286	NM_004982.4(KCNJ8):c.870G>A (p.Leu290=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome +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 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)	Brugada syndrome +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 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 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 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 2451399	NM_004982.4(KCNJ8):c.707C>G (p.Pro236Arg)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1755391	NM_004982.4(KCNJ8):c.677G>A (p.Arg226His)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1387720	NM_004982.4(KCNJ8):c.676C>T (p.Arg226Cys)	KCNJ8 (R226C)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 1662510	NM_004982.4(KCNJ8):c.648G>A (p.Arg216=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1752213	NM_004982.4(KCNJ8):c.620G>T (p.Cys207Phe)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 703201	NM_004982.4(KCNJ8):c.600C>T (p.Ala200=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	GLikely benign
Select item 1750679	NM_004982.4(KCNJ8):c.594G>T (p.Val198=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 573420	NM_004982.4(KCNJ8):c.591T>A (p.Ala197=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 532173	NM_004982.4(KCNJ8):c.588T>C (p.His196=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	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 378009	NM_004982.4(KCNJ8):c.507C>T (p.Ile169=)	KCNJ8	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 3287658	NM_004982.4(KCNJ8):c.504C>T (p.Ile168=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 511968	NM_004982.4(KCNJ8):c.471G>A (p.Thr157=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 264182	NM_004982.4(KCNJ8):c.471G>C (p.Thr157=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 381495	NM_004982.4(KCNJ8):c.465C>T (p.Ala155=)	KCNJ8	Single nucleotide variant (synonymous variant)	not specified +1 more	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 1735804	NM_004982.4(KCNJ8):c.387T>C (p.Ser129=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1382651	NM_004982.4(KCNJ8):c.353C>G (p.Thr118Ser)	KCNJ8 (T118S)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 431368	NM_004982.4(KCNJ8):c.353C>T (p.Thr118Ile)	KCNJ8 (T118I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1611090	NM_004982.4(KCNJ8):c.352A>G (p.Thr118Ala)	KCNJ8 (T118A)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1729619	NM_004982.4(KCNJ8):c.327_341dup (p.Gly114_Leu115insMetGluLysSerGly)	KCNJ8	Duplication (inframe_insertion)	Cardiovascular phenotype	GUncertain significance
Select item 2586226	NM_004982.4(KCNJ8):c.336A>G (p.Lys112=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1400429	NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly)	KCNJ8 (E111G)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type +3 more	GConflicting classifications of pathogenicity
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 137997	NM_004982.4(KCNJ8):c.291C>G (p.Ala97=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome +3 more	GBenign
Select item 1797403	NM_004982.4(KCNJ8):c.289G>C (p.Ala97Pro)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 190832	NM_004982.4(KCNJ8):c.263C>G (p.Ala88Gly)	KCNJ8 (A88G)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1786057	NM_004982.4(KCNJ8):c.210C>T (p.Arg70=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224552	NM_004982.4(KCNJ8):c.162A>G (p.Gly54=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1158032	NM_004982.4(KCNJ8):c.144G>A (p.Lys48=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	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 388964	NM_004982.4(KCNJ8):c.138G>T (p.Ala46=)	KCNJ8	Single nucleotide variant (synonymous variant)	not specified +2 more	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 2466954	NM_004982.4(KCNJ8):c.119G>C (p.Ser40Thr)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 532159	NM_004982.4(KCNJ8):c.111C>T (p.Ile37=)	KCNJ8	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2565924	NM_004982.4(KCNJ8):c.103C>G (p.Arg35Gly)	KCNJ8	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3287657	NM_004982.4(KCNJ8):c.102C>T (p.Ala34=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 2586228	NM_004982.4(KCNJ8):c.89G>A (p.Arg30His)	KCNJ8 (R30H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1438747	NM_004982.4(KCNJ8):c.88C>T (p.Arg30Cys)	KCNJ8 (R30C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 519449	NM_004982.4(KCNJ8):c.88C>A (p.Arg30Ser)	KCNJ8 (R30S)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance

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