ClinVar for MedGen (Select 762200) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370315	NM_005585.5(SMAD6):c.691del (p.Arg231fs)	SMAD6 (R231fs)	Deletion (frameshift variant +1 more)	Aortic valve disease 2	GLikely pathogenic
Select item 3256710	NM_005585.5(SMAD6):c.792C>G (p.Tyr264Ter)	SMAD6 (Y264*)	Single nucleotide variant (nonsense +1 more)	Aortic valve disease 2	GLikely pathogenic
Select item 3244342	NC_000012.11:g.(?_114823261)_(114841703_?)dup	TBX5	Duplication	Aortic valve disease 2	GUncertain significance
Select item 3244320	NC_000012.11:g.(?_114793337)_(115121005_?)dup	TBX3, TBX5	Duplication	Aortic valve disease 2 +1 more	GUncertain significance
Select item 3236099	NM_005585.5(SMAD6):c.157G>T (p.Gly53Ter)	SMAD6 (G53*)	Single nucleotide variant (nonsense +1 more)	Aortic valve disease 2	GLikely pathogenic
Select item 3235901	NM_005585.5(SMAD6):c.789del (p.Tyr264fs)	SMAD6 (Y264fs)	Deletion (frameshift variant +1 more)	Aortic valve disease 2	GLikely pathogenic
Select item 3062250	NM_005585.5(SMAD6):c.1440dup (p.Ile481fs)	SMAD6 (I481fs)	Duplication (frameshift variant +1 more)	Aortic valve disease 2	GLikely pathogenic
Select item 3023849	NM_005585.5(SMAD6):c.1127G>A (p.Arg376His)	SMAD6 (R376H)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 3022420	NM_005585.5(SMAD6):c.654G>A (p.Gln218=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 3019974	NM_005585.5(SMAD6):c.1103T>C (p.Leu368Pro)	SMAD6 (L368P)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 3015994	NM_005585.5(SMAD6):c.874+20T>G	SMAD6	Single nucleotide variant (intron variant)	Aortic valve disease 2	GLikely benign
Select item 3009343	NM_005585.5(SMAD6):c.1279G>T (p.Val427Leu)	SMAD6 (V427L)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 3007739	NM_005585.5(SMAD6):c.682C>G (p.Arg228Gly)	SMAD6 (R228G)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 3007608	NM_181486.4(TBX5):c.246G>T (p.Arg82=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2	GLikely benign
Select item 3005066	NM_005585.5(SMAD6):c.475C>G (p.Arg159Gly)	SMAD6 (R159G)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 3002944	NM_181486.4(TBX5):c.362+13G>T	TBX5	Single nucleotide variant (intron variant)	Aortic valve disease 2	GLikely benign
Select item 3001055	NM_005585.5(SMAD6):c.900C>T (p.Tyr300=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2993174	NM_005585.5(SMAD6):c.425_426delinsTT (p.Ser142Ile)	SMAD6 (S142I)	Indel (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2990429	NM_005585.5(SMAD6):c.210C>T (p.Asp70=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2989445	NM_181486.4(TBX5):c.462C>A (p.Ser154=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2	GBenign
Select item 2989076	NM_005585.5(SMAD6):c.18C>G (p.Arg6=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2983677	NM_005585.5(SMAD6):c.430C>A (p.Pro144Thr)	SMAD6 (P144T)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2983675	NM_005585.5(SMAD6):c.1198G>T (p.Val400Leu)	SMAD6 (V400L)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2983469	NM_005585.5(SMAD6):c.595G>C (p.Gly199Arg)	SMAD6 (G199R)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2979969	NM_005585.5(SMAD6):c.754G>T (p.Ala252Ser)	SMAD6 (A252S)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2977000	NM_005585.5(SMAD6):c.1198G>C (p.Val400Leu)	SMAD6 (V400L)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2975555	NM_005585.5(SMAD6):c.1245G>A (p.Pro415=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2973636	NM_181486.4(TBX5):c.663+6C>G	TBX5	Single nucleotide variant (intron variant)	Aortic valve disease 2	GUncertain significance
Select item 2969330	NM_005585.5(SMAD6):c.471G>C (p.Arg157=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2968634	NM_005585.5(SMAD6):c.55G>T (p.Val19Phe)	SMAD6 (V19F)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2968227	NM_005585.5(SMAD6):c.114C>G (p.Ser38Arg)	SMAD6 (S38R)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2965408	NM_005585.5(SMAD6):c.20C>A (p.Ser7Ter)	SMAD6 (S7*)	Single nucleotide variant (nonsense +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2959546	NM_181486.4(TBX5):c.1114T>A (p.Ser372Thr)	TBX5 (S322T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2957968	NM_181486.4(TBX5):c.730C>T (p.Leu244=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2	GLikely benign
Select item 2954633	NM_005585.5(SMAD6):c.764A>C (p.Asp255Ala)	SMAD6 (D255A)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2 +1 more	GUncertain significance
Select item 2919059	NM_005585.5(SMAD6):c.1050C>T (p.Tyr350=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2918481	NM_005585.5(SMAD6):c.576G>A (p.Leu192=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2917418	NM_005585.5(SMAD6):c.519A>T (p.Lys173Asn)	SMAD6 (K173N)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2917340	NM_005585.5(SMAD6):c.465C>T (p.Gly155=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2916140	NM_005585.5(SMAD6):c.140C>T (p.Pro47Leu)	SMAD6 (P47L)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2914253	NM_181486.4(TBX5):c.158G>A (p.Gly53Glu)	TBX5 (G53E +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +1 more	GUncertain significance
Select item 2913987	NM_005585.5(SMAD6):c.1396A>C (p.Ile466Leu)	SMAD6 (I466L)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2913986	NM_005585.5(SMAD6):c.1078C>G (p.Leu360Val)	SMAD6 (L360V)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2913666	NM_005585.5(SMAD6):c.787C>A (p.Pro263Thr)	SMAD6 (P263T)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2912209	NM_005585.5(SMAD6):c.725A>C (p.Lys242Thr)	SMAD6 (K242T)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2911527	NM_005585.5(SMAD6):c.32G>A (p.Arg11Gln)	SMAD6 (R11Q)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2910577	NM_005585.5(SMAD6):c.691C>A (p.Arg231Ser)	SMAD6 (R231S)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2908654	NM_005585.5(SMAD6):c.489G>C (p.Ser163=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2908058	NM_005585.5(SMAD6):c.418G>A (p.Asp140Asn)	SMAD6 (D140N)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2907894	NM_181486.4(TBX5):c.90C>A (p.Ser30Arg)	TBX5 (S30R)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2906101	NM_005585.5(SMAD6):c.1389C>T (p.Ser463=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2905786	NM_005585.5(SMAD6):c.272G>T (p.Arg91Met)	SMAD6 (R91M)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2905209	NM_005585.5(SMAD6):c.168C>T (p.Gly56=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2904853	NM_005585.5(SMAD6):c.812G>C (p.Gly271Ala)	SMAD6 (G271A)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2903320	NM_005585.5(SMAD6):c.264C>A (p.Gly88=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2903077	NM_181486.4(TBX5):c.242+18G>A	TBX5	Single nucleotide variant (intron variant)	Aortic valve disease 2	GLikely benign
Select item 2902283	NM_181486.4(TBX5):c.479T>C (p.Leu160Pro)	TBX5 (L110P +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2899856	NM_181486.4(TBX5):c.422C>G (p.Ser141Cys)	TBX5 (S91C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2899508	NM_005585.5(SMAD6):c.494T>G (p.Leu165Arg)	SMAD6 (L165R)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2899057	NM_005585.5(SMAD6):c.874+1G>C	SMAD6	Single nucleotide variant (splice donor variant)	Aortic valve disease 2	GUncertain significance
Select item 2898961	NM_005585.5(SMAD6):c.505G>T (p.Glu169Ter)	SMAD6 (E169*)	Single nucleotide variant (nonsense +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2898515	NM_181486.4(TBX5):c.147+13C>G	TBX5	Single nucleotide variant (intron variant)	Aortic valve disease 2	GLikely benign
Select item 2895839	NM_181486.4(TBX5):c.492C>G (p.His164Gln)	TBX5 (H114Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2893613	NM_181486.4(TBX5):c.1010C>A (p.Pro337His)	TBX5 (P287H +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2893088	NM_005585.5(SMAD6):c.998G>A (p.Ser333Asn)	SMAD6 (S333N)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2 +1 more	GUncertain significance
Select item 2888723	NM_005585.5(SMAD6):c.263G>T (p.Gly88Val)	SMAD6 (G88V)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2888714	NM_181486.4(TBX5):c.408C>T (p.Tyr136=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2	GLikely benign
Select item 2888405	NM_005585.5(SMAD6):c.875-1G>A	SMAD6	Single nucleotide variant (splice acceptor variant)	Aortic valve disease 2	GUncertain significance
Select item 2888270	NM_005585.5(SMAD6):c.553G>A (p.Glu185Lys)	SMAD6 (E185K)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2886783	NM_005585.5(SMAD6):c.342C>T (p.Gly114=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2885797	NM_005585.5(SMAD6):c.281C>T (p.Ser94Leu)	SMAD6 (S94L)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2877857	NM_181486.4(TBX5):c.983-13C>T	TBX5	Single nucleotide variant (intron variant)	Aortic valve disease 2	GLikely benign
Select item 2875883	NM_005585.5(SMAD6):c.459G>T (p.Ala153=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2871382	NM_005585.5(SMAD6):c.1383dup (p.Asn462fs)	SMAD6 (N462fs)	Duplication (frameshift variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2869232	NM_005585.5(SMAD6):c.1195G>T (p.Gly399Cys)	SMAD6 (G399C)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2863478	NM_181486.4(TBX5):c.1450C>T (p.Pro484Ser)	TBX5 (P484S +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2858522	NM_005585.5(SMAD6):c.1465G>T (p.Glu489Ter)	SMAD6 (E489*)	Single nucleotide variant (nonsense +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2856315	NM_005585.5(SMAD6):c.481G>T (p.Ala161Ser)	SMAD6 (A161S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2846044	NM_005585.5(SMAD6):c.1158G>T (p.Lys386Asn)	SMAD6 (K386N)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2838058	NM_181486.4(TBX5):c.1140T>G (p.Tyr380Ter)	TBX5 (Y380* +1 more)	Single nucleotide variant (nonsense)	Aortic valve disease 2	GUncertain significance
Select item 2831972	NM_005585.5(SMAD6):c.461dup (p.Gly155fs)	SMAD6 (G155fs)	Duplication (frameshift variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2825206	NM_181486.4(TBX5):c.217G>C (p.Glu73Gln)	TBX5 (E23Q +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GLikely pathogenic
Select item 2824603	NM_181486.4(TBX5):c.242G>A (p.Arg81Lys)	TBX5 (R81K +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2823903	NM_005585.5(SMAD6):c.861G>A (p.Glu287=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2823213	NM_005585.5(SMAD6):c.350C>G (p.Pro117Arg)	SMAD6 (P117R)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2823011	NM_005585.5(SMAD6):c.620T>G (p.Leu207Arg)	SMAD6 (L207R)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2815373	NM_005585.5(SMAD6):c.818-17T>C	SMAD6	Single nucleotide variant (intron variant)	Aortic valve disease 2	GLikely benign
Select item 2814132	NM_181486.4(TBX5):c.731T>C (p.Leu244Pro)	TBX5 (L244P +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2814008	NM_181486.4(TBX5):c.628_645del (p.Ala210_Thr215del)	TBX5	Deletion (inframe_deletion)	Aortic valve disease 2	GUncertain significance
Select item 2812388	NM_005585.5(SMAD6):c.428A>T (p.Asp143Val)	SMAD6 (D143V)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2811976	NM_181486.4(TBX5):c.1039C>T (p.Pro347Ser)	TBX5 (P297S +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2810024	NM_181486.4(TBX5):c.529C>T (p.His177Tyr)	TBX5 (H177Y +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2806486	NM_005585.5(SMAD6):c.874+15C>T	SMAD6	Single nucleotide variant (intron variant)	Aortic valve disease 2	GLikely benign
Select item 2801529	NM_005585.5(SMAD6):c.819A>G (p.Glu273=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2799209	NM_005585.5(SMAD6):c.1489T>G (p.Ter497Glu)	SMAD6	Single nucleotide variant (stop lost +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2797780	NM_005585.5(SMAD6):c.635A>G (p.Asp212Gly)	SMAD6 (D212G)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2 +1 more	GUncertain significance
Select item 2797062	NM_005585.5(SMAD6):c.1014G>T (p.Glu338Asp)	SMAD6 (E338D)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2795348	NM_005585.5(SMAD6):c.611G>T (p.Gly204Val)	SMAD6 (G204V)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2791202	NM_005585.5(SMAD6):c.79_84dup (p.Gly28_Gly29insSerGly)	SMAD6	Duplication (inframe_insertion +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2789317	NM_181486.4(TBX5):c.1027A>G (p.Met343Val)	TBX5 (M343V +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance

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