C3279693[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1630920	NM_181703.4(GJA5):c.1071A>T (p.Ser357=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
Select item 292447	NM_181703.4(GJA5):c.1068A>G (p.Leu356=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2944669	NM_181703.4(GJA5):c.1065C>A (p.Asp355Glu)	GJA5 (D355E)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 1583749	NM_181703.4(GJA5):c.1065C>T (p.Asp355=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2932402	NM_181703.4(GJA5):c.1046G>A (p.Ser349Asn)	GJA5 (S349N)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2037104	NM_181703.4(GJA5):c.1039G>C (p.Ala347Pro)	GJA5 (A347P)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 836933	NM_181703.4(GJA5):c.1035_1038del (p.Ser345fs)	GJA5 (S345fs)	Deletion (frameshift variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2951259	NM_181703.4(GJA5):c.1034G>A (p.Ser345Asn)	GJA5 (S345N)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2010788	NM_181703.4(GJA5):c.1030C>A (p.Leu344Ile)	GJA5 (L344I)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 1380742	NM_181703.4(GJA5):c.1028G>A (p.Arg343His)	GJA5 (R343H)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 1056660	NM_181703.4(GJA5):c.1024C>T (p.Arg342Ter)	GJA5 (R342*)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 2156886	NM_181703.4(GJA5):c.1023G>C (p.Lys341Asn)	GJA5 (K341N)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 1627638	NM_181703.4(GJA5):c.1023G>A (p.Lys341=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2944297	NM_181703.4(GJA5):c.1020C>G (p.Asp340Glu)	GJA5 (D340E)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 1391155	NM_181703.4(GJA5):c.1016G>A (p.Ser339Asn)	GJA5 (S339N)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 838990	NM_181703.4(GJA5):c.1006G>A (p.Gly336Ser)	GJA5 (G336S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2044403	NM_181703.4(GJA5):c.1000C>A (p.Pro334Thr)	GJA5 (P334T)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 292448	NM_181703.4(GJA5):c.995G>A (p.Arg332His)	GJA5 (R332H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1444316	NM_181703.4(GJA5):c.994C>T (p.Arg332Cys)	GJA5 (R332C)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2048861	NM_181703.4(GJA5):c.989G>C (p.Gly330Ala)	GJA5 (G330A)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2934202	NM_181703.4(GJA5):c.978A>C (p.Gly326=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
Select item 1316153	NM_181703.4(GJA5):c.977G>C (p.Gly326Ala)	GJA5 (G326A)	Single nucleotide variant (missense variant)	Atrial standstill 1 +2 more	GUncertain significance
Select item 566272	NM_181703.4(GJA5):c.977G>A (p.Gly326Glu)	GJA5 (G326E)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 1465384	NM_181703.4(GJA5):c.974A>G (p.Asn325Ser)	GJA5 (N325S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 577662	NM_181703.4(GJA5):c.973A>C (p.Asn325His)	GJA5 (N325H)	Single nucleotide variant (missense variant)	Atrial standstill 1 +2 more	GConflicting classifications of pathogenicity
Select item 2939289	NM_181703.4(GJA5):c.963T>G (p.Pro321=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
Select item 1478969	NM_181703.4(GJA5):c.953G>T (p.Gly318Val)	GJA5 (G318V)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2175267	NM_181703.4(GJA5):c.948T>A (p.Arg316=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2049301	NM_181703.4(GJA5):c.947G>T (p.Arg316Leu)	GJA5 (R316L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 1438018	NM_181703.4(GJA5):c.947G>C (p.Arg316Pro)	GJA5 (R316P)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 835840	NM_181703.4(GJA5):c.947G>A (p.Arg316His)	GJA5 (R316H)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 1550636	NM_181703.4(GJA5):c.945T>A (p.Val315=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2934586	NM_181703.4(GJA5):c.942G>T (p.Gln314His)	GJA5 (Q314H)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 1001932	NM_181703.4(GJA5):c.941A>G (p.Gln314Arg)	GJA5 (Q314R)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2639123	NM_181703.4(GJA5):c.932G>C (p.Gly311Ala)	GJA5 (G311A)	Single nucleotide variant (missense variant)	Atrial standstill 1 +2 more	GConflicting classifications of pathogenicity
Select item 2927221	NM_181703.4(GJA5):c.926G>C (p.Gly309Ala)	GJA5 (G309A)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2940977	NM_181703.4(GJA5):c.925G>A (p.Gly309Arg)	GJA5 (G309R)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2927568	NM_181703.4(GJA5):c.923C>G (p.Pro308Arg)	GJA5 (P308R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 1482481	NM_181703.4(GJA5):c.920C>T (p.Thr307Ile)	GJA5 (T307I)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2117646	NM_181703.4(GJA5):c.913G>A (p.Glu305Lys)	GJA5 (E305K)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2050298	NM_181703.4(GJA5):c.908G>A (p.Gly303Asp)	GJA5 (G303D)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 1504457	NM_181703.4(GJA5):c.905G>A (p.Arg302Gln)	GJA5 (R302Q)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 666384	NM_181703.4(GJA5):c.904C>T (p.Arg302Ter)	GJA5 (R302*)	Single nucleotide variant (nonsense)	Atrial standstill 1 +1 more	GUncertain significance
Select item 1083545	NM_181703.4(GJA5):c.903A>G (p.Val301=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 1345427	NM_181703.4(GJA5):c.893C>G (p.Thr298Ser)	GJA5 (T298S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2950202	NM_181703.4(GJA5):c.891C>T (p.Val297=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2033763	NM_181703.4(GJA5):c.870A>G (p.Gln290=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
Select item 1621659	NM_181703.4(GJA5):c.867C>T (p.Ser289=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 1107841	NM_181703.4(GJA5):c.864C>T (p.Ala288=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2139459	NM_181703.4(GJA5):c.863C>T (p.Ala288Val)	GJA5 (A288V)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 1923838	NM_181703.4(GJA5):c.860T>A (p.Met287Lys)	GJA5 (M287K)	Single nucleotide variant (missense variant)	Atrial standstill 1 +2 more	GUncertain significance
Select item 2932678	NM_181703.4(GJA5):c.843T>C (p.Asn281=)	GJA5, LOC122128420	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2946556	NM_181703.4(GJA5):c.827_838del (p.Gly276_Phe280delinsVal)	GJA5, LOC122128420	Deletion (inframe_indel)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2011516	NM_181703.4(GJA5):c.834del (p.Lys278fs)	GJA5, LOC122128420 (K278fs)	Deletion (frameshift variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 1442437	NM_181703.4(GJA5):c.833A>G (p.Lys278Arg)	GJA5, LOC122128420 (K278R)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2171831	NM_181703.4(GJA5):c.824C>G (p.Pro275Arg)	GJA5, LOC122128420 (P275R)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 1714950	NM_181703.4(GJA5):c.824C>T (p.Pro275Leu)	GJA5, LOC122128420 (P275L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2953847	NM_181703.4(GJA5):c.823C>T (p.Pro275Ser)	GJA5, LOC122128420 (P275S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2195893	NM_181703.4(GJA5):c.821G>A (p.Gly274Asp)	GJA5, LOC122128420 (G274D)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2937476	NM_181703.4(GJA5):c.816G>T (p.Glu272Asp)	GJA5, LOC122128420 (E272D)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2167065	NM_181703.4(GJA5):c.815A>C (p.Glu272Ala)	GJA5, LOC122128420 (E272A)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 1638806	NM_181703.4(GJA5):c.813G>A (p.Leu271=)	GJA5, LOC122128420	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
Select item 1632294	NM_181703.4(GJA5):c.798C>T (p.Asp266=)	LOC122128420, GJA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
Select item 1507804	NM_181703.4(GJA5):c.795dup (p.Asp266fs)	GJA5, LOC122128420 (D266fs)	Duplication (frameshift variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2157079	NM_181703.4(GJA5):c.795C>T (p.Pro265=)	GJA5, LOC122128420	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 648482	NM_181703.4(GJA5):c.793C>T (p.Pro265Ser)	GJA5, LOC122128420 (P265S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 971270	NM_181703.4(GJA5):c.790C>A (p.Pro264Thr)	GJA5, LOC122128420 (P264T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2951125	NM_181703.4(GJA5):c.789A>G (p.Pro263=)	GJA5, LOC122128420	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 1021422	NM_181703.4(GJA5):c.787C>T (p.Pro263Ser)	GJA5, LOC122128420 (P263S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 1542377	NM_181703.4(GJA5):c.780C>T (p.Ser260=)	GJA5, LOC122128420	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
Select item 2935898	NM_181703.4(GJA5):c.777del (p.Ser260fs)	GJA5, LOC122128420 (S260fs)	Deletion (frameshift variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 1425162	NM_181703.4(GJA5):c.776A>C (p.Gln259Pro)	GJA5, LOC122128420 (Q259P)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2926287	NM_181703.4(GJA5):c.772G>T (p.Val258Phe)	GJA5, LOC122128420 (V258F)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 1025426	NM_181703.4(GJA5):c.771dup (p.Val258fs)	GJA5, LOC122128420 (V258fs)	Duplication (frameshift variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2934256	NM_181703.4(GJA5):c.769A>G (p.Ile257Val)	GJA5, LOC122128420 (I257V)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 1536726	NM_181703.4(GJA5):c.765G>C (p.Val255=)	GJA5, LOC122128420	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
Select item 2928169	NM_181703.4(GJA5):c.756C>A (p.Gly252=)	GJA5, LOC122128420	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 1579515	NM_181703.4(GJA5):c.738T>C (p.Ala246=)	LOC122128420, GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2014737	NM_181703.4(GJA5):c.730C>T (p.His244Tyr)	GJA5, LOC122128420 (H244Y)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 1410268	NM_181703.4(GJA5):c.727C>T (p.Gln243Ter)	LOC122128420, GJA5 (Q243*)	Single nucleotide variant (nonsense)	Atrial standstill 1 +1 more	GUncertain significance
Select item 696597	NM_181703.4(GJA5):c.726G>A (p.Arg242=)	GJA5, LOC122128420	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +2 more	GBenign/Likely benign
Select item 1402461	NM_181703.4(GJA5):c.725G>T (p.Arg242Leu)	GJA5, LOC122128420 (R242L)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 1317266	NM_181703.4(GJA5):c.724C>T (p.Arg242Trp)	GJA5, LOC122128420 (R242W)	Single nucleotide variant (missense variant)	Atrial standstill 1 +2 more	GUncertain significance
Select item 2064912	NM_181703.4(GJA5):c.722C>G (p.Pro241Arg)	GJA5, LOC122128420 (P241R)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 1370893	NM_181703.4(GJA5):c.709C>T (p.Arg237Ter)	GJA5, LOC122128420 (R237*)	Single nucleotide variant (nonsense)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2943295	NM_181703.4(GJA5):c.695AGA[1] (p.Lys233del)	GJA5, LOC122128420 (K233del)	Microsatellite (inframe_deletion)	Atrial standstill 1 +1 more	GUncertain significance
Select item 1357441	NM_181703.4(GJA5):c.700A>T (p.Ile234Phe)	GJA5, LOC122128420 (I234F)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2942494	NM_181703.4(GJA5):c.695del (p.Lys232fs)	GJA5, LOC122128420 (K232fs)	Deletion (frameshift variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 1983033	NM_181703.4(GJA5):c.685C>T (p.Leu229=)	GJA5, LOC122128420	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 1522710	NM_181703.4(GJA5):c.665G>C (p.Ser222Thr)	GJA5, LOC122128420 (S222T)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 1384515	NM_181703.4(GJA5):c.658C>T (p.Leu220Phe)	GJA5, LOC122128420 (L220F)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2057986	NM_181703.4(GJA5):c.650T>C (p.Leu217Pro)	GJA5, LOC122128420 (L217P)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2196117	NM_181703.4(GJA5):c.646G>A (p.Ala216Thr)	GJA5, LOC122128420 (A216T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2924048	NM_181703.4(GJA5):c.645T>A (p.Ala215=)	GJA5, LOC122128420	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2089100	NM_181703.4(GJA5):c.638C>A (p.Ala213Asp)	GJA5, LOC122128420 (A213D)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 1904621	NM_181703.4(GJA5):c.635T>C (p.Leu212Pro)	GJA5, LOC122128420 (L212P)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2952868	NM_181703.4(GJA5):c.624T>G (p.Ile208Met)	GJA5, LOC122128420 (I208M)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 1578315	NM_181703.4(GJA5):c.618C>G (p.Val206=)	GJA5, LOC122128420	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2949785	NM_181703.4(GJA5):c.610A>G (p.Lys204Glu)	GJA5, LOC122128420 (K204E)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2108420	NM_181703.4(GJA5):c.607G>A (p.Glu203Lys)	GJA5, LOC122128420 (E203K)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance

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