ClinVar for Gene (Select 4091) - 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 3361175	NM_005585.5(SMAD6):c.1168_1169delinsCT (p.Gly390Leu)	SMAD6 (G390L)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3358498	NM_005585.5(SMAD6):c.213A>C (p.Ala71=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	SMAD6-related disorder	GLikely benign
Select item 3356037	NM_005585.5(SMAD6):c.1151G>A (p.Arg384His)	SMAD6 (R384H)	Single nucleotide variant (missense variant +1 more)	SMAD6-related disorder	GUncertain significance
Select item 3355525	NM_005585.5(SMAD6):c.363C>T (p.Cys121=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	SMAD6-related disorder	GLikely benign
Select item 3347095	NM_005585.5(SMAD6):c.*5G>A	SMAD6	Single nucleotide variant (3 prime UTR variant +1 more)	SMAD6-related disorder	GUncertain significance
Select item 3346823	NM_005585.5(SMAD6):c.79_90dup (p.Gly30_Gly31insSerGlyGlyGly)	SMAD6	Duplication (inframe_insertion +1 more)	SMAD6-related disorder	GUncertain significance
Select item 3346791	NM_005585.5(SMAD6):c.735C>A (p.Cys245Ter)	SMAD6 (C245*)	Single nucleotide variant (nonsense +1 more)	SMAD6-related disorder	GUncertain significance
Select item 3345208	NM_005585.5(SMAD6):c.553del (p.Glu185fs)	SMAD6 (E185fs)	Deletion (frameshift variant +1 more)	SMAD6-related disorder	GLikely pathogenic
Select item 3345027	NM_005585.5(SMAD6):c.330_342dup (p.Trp115fs)	SMAD6 (W115fs)	Duplication (frameshift variant +1 more)	SMAD6-related disorder	GUncertain significance
Select item 3343870	NM_005585.5(SMAD6):c.433dup (p.Leu145fs)	SMAD6 (L145fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3343869	NM_005585.5(SMAD6):c.40T>C (p.Trp14Arg)	SMAD6 (W14R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3340280	NM_005585.5(SMAD6):c.1219G>T (p.Glu407Ter)	SMAD6 (E407*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3336117	NM_005585.5(SMAD6):c.968C>T (p.Pro323Leu)	SMAD6 (P323L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320655	NM_005585.5(SMAD6):c.520A>C (p.Thr174Pro)	SMAD6 (T174P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320654	NM_005585.5(SMAD6):c.1085A>G (p.Gln362Arg)	SMAD6 (Q362R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320652	NM_005585.5(SMAD6):c.110G>A (p.Gly37Glu)	SMAD6 (G37E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320651	NM_005585.5(SMAD6):c.433C>T (p.Leu145=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3320650	NM_005585.5(SMAD6):c.1292C>A (p.Pro431His)	SMAD6 (P431H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320648	NM_005585.5(SMAD6):c.360C>G (p.Asp120Glu)	SMAD6 (D120E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320647	NM_005585.5(SMAD6):c.1261G>C (p.Gly421Arg)	SMAD6 (G421R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320646	NM_005585.5(SMAD6):c.847T>C (p.Ser283Pro)	SMAD6 (S283P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320645	NM_005585.5(SMAD6):c.1264G>A (p.Gly422Ser)	SMAD6 (G422S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320644	NM_005585.5(SMAD6):c.670C>T (p.Leu224=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3320642	NM_005585.5(SMAD6):c.47G>A (p.Ser16Asn)	SMAD6 (S16N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320641	NM_005585.5(SMAD6):c.585G>C (p.Val195=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3320640	NM_005585.5(SMAD6):c.617T>G (p.Val206Gly)	SMAD6 (V206G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320639	NM_005585.5(SMAD6):c.1190C>A (p.Pro397His)	SMAD6 (P397H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320638	NM_005585.5(SMAD6):c.210C>G (p.Asp70Glu)	SMAD6 (D70E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320637	NM_005585.5(SMAD6):c.579G>C (p.Glu193Asp)	SMAD6 (E193D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3252365	NM_005585.5(SMAD6):c.654del (p.Gln218fs)	SMAD6 (Q218fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3252262	NM_005585.5(SMAD6):c.1461G>A (p.Trp487Ter)	SMAD6 (W487*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3251496	NM_005585.5(SMAD6):c.659C>T (p.Ala220Val)	SMAD6 (A220V)	Single nucleotide variant (missense variant +1 more)	not specified	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 3224810	NM_005585.5(SMAD6):c.904G>A (p.Glu302Lys)	SMAD6 (E302K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224809	NM_005585.5(SMAD6):c.898T>C (p.Tyr300His)	SMAD6 (Y300H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224808	NM_005585.5(SMAD6):c.798C>A (p.Phe266Leu)	SMAD6 (F266L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224807	NM_005585.5(SMAD6):c.786C>A (p.Asn262Lys)	SMAD6 (N262K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224806	NM_005585.5(SMAD6):c.756C>A (p.Ala252=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3224805	NM_005585.5(SMAD6):c.732G>T (p.Leu244=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3224804	NM_005585.5(SMAD6):c.701A>C (p.Asp234Ala)	SMAD6 (D234A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224803	NM_005585.5(SMAD6):c.694T>C (p.Trp232Arg)	SMAD6 (W232R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224802	NM_005585.5(SMAD6):c.664C>T (p.Pro222Ser)	SMAD6 (P222S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224801	NM_005585.5(SMAD6):c.646G>A (p.Gly216Ser)	SMAD6 (G216S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224800	NM_005585.5(SMAD6):c.616G>T (p.Val206Leu)	SMAD6 (V206L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224799	NM_005585.5(SMAD6):c.611G>A (p.Gly204Asp)	SMAD6 (G204D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224798	NM_005585.5(SMAD6):c.595G>A (p.Gly199Ser)	SMAD6 (G199S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224797	NM_005585.5(SMAD6):c.573G>A (p.Leu191=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3224796	NM_005585.5(SMAD6):c.50G>A (p.Arg17His)	SMAD6 (R17H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224795	NM_005585.5(SMAD6):c.487T>G (p.Ser163Ala)	SMAD6 (S163A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224794	NM_005585.5(SMAD6):c.417G>T (p.Arg139=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3224793	NM_005585.5(SMAD6):c.294C>G (p.Ala98=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3224792	NM_005585.5(SMAD6):c.198G>A (p.Arg66=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3224791	NM_005585.5(SMAD6):c.197G>A (p.Arg66Gln)	SMAD6 (R66Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224790	NM_005585.5(SMAD6):c.1474C>G (p.Leu492Val)	SMAD6 (L492V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224789	NM_005585.5(SMAD6):c.1422C>A (p.Pro474=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3224788	NM_005585.5(SMAD6):c.1405G>A (p.Ala469Thr)	SMAD6 (A469T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224787	NM_005585.5(SMAD6):c.1385A>G (p.Asn462Ser)	SMAD6 (N462S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224786	NM_005585.5(SMAD6):c.1381C>T (p.Pro461Ser)	SMAD6 (P461S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224785	NM_005585.5(SMAD6):c.1323C>T (p.Phe441=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3224784	NM_005585.5(SMAD6):c.1199T>G (p.Val400Gly)	SMAD6 (V400G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224783	NM_005585.5(SMAD6):c.1087G>A (p.Gly363Ser)	SMAD6 (G363S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224782	NM_005585.5(SMAD6):c.1060G>A (p.Val354Ile)	SMAD6 (V354I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3224781	NM_005585.5(SMAD6):c.1027G>T (p.Val343Leu)	SMAD6 (V343L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166250	NM_005585.5(SMAD6):c.737G>A (p.Gly246Asp)	SMAD6 (G246D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166248	NM_005585.5(SMAD6):c.4T>G (p.Phe2Val)	SMAD6 (F2V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166247	NM_005585.5(SMAD6):c.457G>A (p.Ala153Thr)	SMAD6 (A153T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166246	NM_005585.5(SMAD6):c.425G>T (p.Ser142Ile)	SMAD6 (S142I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166245	NM_005585.5(SMAD6):c.415C>G (p.Arg139Gly)	SMAD6 (R139G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166244	NM_005585.5(SMAD6):c.269C>A (p.Pro90Gln)	SMAD6 (P90Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166243	NM_005585.5(SMAD6):c.199C>T (p.Arg67Trp)	SMAD6 (R67W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166242	NM_005585.5(SMAD6):c.193C>T (p.Pro65Ser)	SMAD6 (P65S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166241	NM_005585.5(SMAD6):c.1487G>T (p.Arg496Ile)	SMAD6 (R496I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166240	NM_005585.5(SMAD6):c.1112T>G (p.Leu371Arg)	SMAD6 (L371R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3069046	NM_005585.5(SMAD6):c.*2GGC[1]	SMAD6	Microsatellite (3 prime UTR variant +1 more)	not specified	GBenign
Select item 3065288	NM_005585.5(SMAD6):c.1318G>C (p.Asp440His)	SMAD6 (D440H)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis, nonsyndromic, susceptibility to	GUncertain significance
Select item 3063352	GRCh37/hg19 15q22.31(chr15:67034137-67116860)x1	SMAD6	Copy number loss	not specified	GUncertain significance
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 3061860	NM_005585.5(SMAD6):c.793C>G (p.His265Asp)	SMAD6 (H265D)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis 7 +1 more	GUncertain significance
Select item 3061063	NM_005585.5(SMAD6):c.993G>T (p.Trp331Cys)	SMAD6 (W331C)	Single nucleotide variant (missense variant +1 more)	SMAD6-related disorder	GUncertain significance
Select item 3048660	NM_005585.5(SMAD6):c.953-9G>A	SMAD6	Single nucleotide variant (intron variant)	SMAD6-related disorder	GLikely benign
Select item 3045107	NM_005585.5(SMAD6):c.198G>C (p.Arg66=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	SMAD6-related disorder	GLikely benign
Select item 3033361	NM_005585.5(SMAD6):c.815C>T (p.Pro272Leu)	SMAD6 (P272L)	Single nucleotide variant (missense variant +1 more)	SMAD6-related disorder	GUncertain significance
Select item 3026822	NM_005585.5(SMAD6):c.665C>A (p.Pro222Gln)	SMAD6 (P222Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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

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