ClinVar for MedGen (Select 1646392) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954301	NM_181703.4(GJA5):c.516C>A (p.Tyr172Ter)	GJA5 (Y172*)	Single nucleotide variant (nonsense)	Atrial standstill 1 +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 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 2951306	NM_181703.4(GJA5):c.76C>T (p.Leu26Phe)	GJA5 (L26F)	Single nucleotide variant (missense 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 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 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 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 2949731	NM_181703.4(GJA5):c.432C>A (p.Ala144=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2947763	NM_181703.4(GJA5):c.176C>T (p.Pro59Leu)	GJA5 (P59L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2946826	NM_181703.4(GJA5):c.208T>C (p.Phe70Leu)	GJA5 (F70L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2946556	NM_181703.4(GJA5):c.827_838del (p.Gly276_Phe280delinsVal)	GJA5, LOC122128420	Deletion (inframe_indel)	Atrial fibrillation, familial, 11 +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 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 2943893	NM_181703.4(GJA5):c.138G>C (p.Gly46=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
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 2943176	NM_181703.4(GJA5):c.272T>C (p.Val91Ala)	GJA5 (V91A)	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 2942467	NM_181703.4(GJA5):c.550G>A (p.Val184Ile)	GJA5 (V184I)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2940977	NM_181703.4(GJA5):c.925G>A (p.Gly309Arg)	GJA5 (G309R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2940826	NM_181703.4(GJA5):c.377C>A (p.Pro126Gln)	GJA5 (P126Q)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +2 more	GUncertain significance
Select item 2939620	NM_181703.4(GJA5):c.352C>G (p.Arg118Gly)	GJA5 (R118G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
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 2937959	NM_181703.4(GJA5):c.261G>A (p.Thr87=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
Select item 2937476	NM_181703.4(GJA5):c.816G>T (p.Glu272Asp)	GJA5, LOC122128420 (E272D)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2936622	NM_181703.4(GJA5):c.578C>T (p.Pro193Leu)	GJA5, LOC122128420 (P193L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2936512	NM_181703.4(GJA5):c.578del (p.Pro193fs)	GJA5, LOC122128420 (P193fs)	Deletion (frameshift variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2936140	NM_181703.4(GJA5):c.559A>C (p.Arg187=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
Select item 2935946	NM_181703.4(GJA5):c.81T>C (p.Thr27=)	GJA5	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 fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2935668	NM_181703.4(GJA5):c.450C>T (p.Leu150=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
Select item 2934586	NM_181703.4(GJA5):c.942G>T (p.Gln314His)	GJA5 (Q314H)	Single nucleotide variant (missense 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 standstill 1 +1 more	GUncertain significance
Select item 2934202	NM_181703.4(GJA5):c.978A>C (p.Gly326=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2934084	NM_181703.4(GJA5):c.576C>T (p.His192=)	GJA5, LOC122128420	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2933693	NM_181703.4(GJA5):c.57C>G (p.Thr19=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2933262	NM_181703.4(GJA5):c.533del (p.Phe178fs)	GJA5 (F178fs)	Deletion (frameshift variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2932678	NM_181703.4(GJA5):c.843T>C (p.Asn281=)	GJA5, LOC122128420	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
Select item 2932613	NM_181703.4(GJA5):c.414A>G (p.Glu138=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
Select item 2932402	NM_181703.4(GJA5):c.1046G>A (p.Ser349Asn)	GJA5 (S349N)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2929745	NM_181703.4(GJA5):c.304A>C (p.Met102Leu)	GJA5 (M102L)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2928878	NM_181703.4(GJA5):c.399G>T (p.Leu133=)	GJA5	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 fibrillation, familial, 11 +1 more	GLikely benign
Select item 2927666	NM_181703.4(GJA5):c.497del (p.Gly166fs)	GJA5 (G166fs)	Deletion (frameshift variant)	Atrial fibrillation, familial, 11 +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 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 2926870	NM_181703.4(GJA5):c.381G>A (p.Val127=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
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 2924048	NM_181703.4(GJA5):c.645T>A (p.Ala215=)	GJA5, LOC122128420	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
Select item 2923878	NM_181703.4(GJA5):c.248T>C (p.Ile83Thr)	GJA5 (I83T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2923251	NM_181703.4(GJA5):c.525C>T (p.Tyr175=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
Select item 2664200	NM_181703.4(GJA5):c.836T>C (p.Phe279Ser)	GJA5, LOC122128420 (F279S)	Single nucleotide variant (missense variant)	Atrial standstill 1	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 2522496	NM_181703.4(GJA5):c.275A>C (p.Tyr92Ser)	GJA5 (Y92S)	Single nucleotide variant (missense variant)	Atrial standstill 1 +2 more	GUncertain significance
Select item 2196263	NM_181703.4(GJA5):c.591C>T (p.Tyr197=)	GJA5, LOC122128420	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2196117	NM_181703.4(GJA5):c.646G>A (p.Ala216Thr)	GJA5, LOC122128420 (A216T)	Single nucleotide variant (missense variant)	Atrial standstill 1 +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 standstill 1 +1 more	GUncertain significance
Select item 2182825	NM_181703.4(GJA5):c.497G>C (p.Gly166Ala)	GJA5 (G166A)	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 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 2170172	NM_181703.4(GJA5):c.351C>T (p.Val117=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
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 2165178	NM_181703.4(GJA5):c.269T>C (p.Leu90Pro)	GJA5 (L90P)	Single nucleotide variant (missense 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 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 2154892	NM_181703.4(GJA5):c.299T>G (p.Val100Gly)	GJA5 (V100G)	Single nucleotide variant (missense variant)	Atrial standstill 1 +2 more	GUncertain significance
Select item 2145134	NM_181703.4(GJA5):c.598C>T (p.Arg200Trp)	GJA5, LOC122128420 (R200W)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2141109	NM_181703.4(GJA5):c.445C>T (p.Leu149=)	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 2133905	NM_181703.4(GJA5):c.287C>A (p.Ala96Asp)	GJA5 (A96D)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2131891	NM_181703.4(GJA5):c.213C>T (p.Pro71=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2122702	NM_181703.4(GJA5):c.435C>T (p.Leu145=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2121287	NM_181703.4(GJA5):c.279_296dup (p.Thr99_Val100insGlyHisAlaMetHisThr)	GJA5	Duplication (inframe_insertion)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2117801	NM_181703.4(GJA5):c.479G>A (p.Arg160His)	GJA5 (R160H)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2117646	NM_181703.4(GJA5):c.913G>A (p.Glu305Lys)	GJA5 (E305K)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +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 standstill 1 +1 more	GUncertain significance
Select item 2097991	NM_181703.4(GJA5):c.203A>G (p.Gln68Arg)	GJA5 (Q68R)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2093753	NM_181703.4(GJA5):c.510C>A (p.Gly170=)	GJA5	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 standstill 1 +1 more	GUncertain significance
Select item 2076952	NM_181703.4(GJA5):c.268C>T (p.Leu90=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 11 +1 more	GLikely benign
Select item 2070062	NM_181703.4(GJA5):c.566C>G (p.Pro189Arg)	GJA5, LOC122128420 (P189R)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance
Select item 2064912	NM_181703.4(GJA5):c.722C>G (p.Pro241Arg)	LOC122128420, GJA5 (P241R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2059443	NM_181703.4(GJA5):c.30C>T (p.Phe10=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
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 2057375	NM_181703.4(GJA5):c.105C>T (p.Leu35=)	GJA5	Single nucleotide variant (synonymous variant)	Atrial standstill 1 +1 more	GLikely benign
Select item 2052790	NM_181703.4(GJA5):c.415G>A (p.Gly139Arg)	GJA5 (G139R)	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 standstill 1 +1 more	GUncertain significance
Select item 2049301	NM_181703.4(GJA5):c.947G>T (p.Arg316Leu)	GJA5 (R316L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2048861	NM_181703.4(GJA5):c.989G>C (p.Gly330Ala)	GJA5 (G330A)	Single nucleotide variant (missense variant)	Atrial standstill 1 +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 2042319	NM_181703.4(GJA5):c.23del (p.Gly8fs)	GJA5 (G8fs)	Deletion (frameshift variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2037104	NM_181703.4(GJA5):c.1039G>C (p.Ala347Pro)	GJA5 (A347P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 2030358	NM_181703.4(GJA5):c.281del (p.Gly94fs)	GJA5 (G94fs)	Deletion (frameshift variant)	Atrial fibrillation, familial, 11 +1 more	GUncertain significance
Select item 2014737	NM_181703.4(GJA5):c.730C>T (p.His244Tyr)	GJA5, LOC122128420 (H244Y)	Single nucleotide variant (missense variant)	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 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 2004727	NM_181703.4(GJA5):c.584A>G (p.Asn195Ser)	GJA5, LOC122128420 (N195S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 11 +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 1981816	NM_181703.4(GJA5):c.521T>A (p.Ile174Asn)	GJA5 (I174N)	Single nucleotide variant (missense variant)	Atrial standstill 1 +1 more	GUncertain significance

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