SMAD6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 1226059	NM_005585.5(SMAD6):c.-767C>T	SMAD6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1246802	NM_005585.5(SMAD6):c.-274G>A	SMAD6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1208555	NM_005585.5(SMAD6):c.-44C>T	SMAD6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 657387	NC_000015.10:g.(?_66703239)_(67190556_?)del	LOC130057348, LOC130057349 +33 more	Deletion	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 584398	NC_000015.10:g.(?_66703239)_(67066380_?)del	LOC110120917, LOC111413015 +19 more	Deletion	Aortic valve disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 2630703	NM_005585.5(SMAD6):c.1_5del (p.Met1fs)	SMAD6 (M1fs)	Deletion (frameshift variant +2 more)	SMAD6-related condition	GUncertain significance
Select item 1969933	NM_005585.5(SMAD6):c.1A>G (p.Met1Val)	SMAD6 (M1V)	Single nucleotide variant (missense variant +2 more)	Aortic valve disease 2	GUncertain significance
Select item 2170867	NM_005585.5(SMAD6):c.2T>A (p.Met1Lys)	SMAD6 (M1K)	Single nucleotide variant (missense variant +2 more)	Aortic valve disease 2	GUncertain significance
Select item 1174559	NM_005585.5(SMAD6):c.2T>C (p.Met1Thr)	SMAD6 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1174547	NM_005585.5(SMAD6):c.3dup (p.Phe2fs)	SMAD6 (F2fs)	Duplication (frameshift variant +2 more)	Radioulnar synostosis	GPathogenic
Select item 471756	NM_005585.5(SMAD6):c.2T>G (p.Met1Arg)	SMAD6 (M1R)	Single nucleotide variant (missense variant +2 more)	Aortic valve disease 2	GUncertain significance
Select item 1047455	NM_005585.5(SMAD6):c.8G>A (p.Arg3Lys)	SMAD6 (R3K)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2 +1 more	GUncertain significance
Select item 2329833	NM_005585.5(SMAD6):c.9G>T (p.Arg3Ser)	SMAD6 (R3S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2176122	NM_005585.5(SMAD6):c.12C>T (p.Ser4=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2697678	NM_005585.5(SMAD6):c.18_22dup (p.Gly8fs)	SMAD6 (G8fs)	Duplication (frameshift variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 1198256	NM_005585.5(SMAD6):c.16C>T (p.Arg6Cys)	SMAD6 (R6C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1378432	NM_005585.5(SMAD6):c.19T>C (p.Ser7Pro)	SMAD6 (S7P)	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 1174563	NM_005585.5(SMAD6):c.24del (p.Leu9fs)	SMAD6 (L9fs)	Deletion (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 1101332	NM_005585.5(SMAD6):c.21G>A (p.Ser7=)	SMAD6	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2562569	NM_005585.5(SMAD6):c.25C>G (p.Leu9Val)	SMAD6 (L9V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1011327	NM_005585.5(SMAD6):c.25C>T (p.Leu9=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2 +1 more	GLikely benign
Select item 2535421	NM_005585.5(SMAD6):c.26T>A (p.Leu9Gln)	SMAD6 (L9Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2195593	NM_005585.5(SMAD6):c.26T>C (p.Leu9Pro)	SMAD6 (L9P)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2706614	NM_005585.5(SMAD6):c.28G>T (p.Val10Leu)	SMAD6 (V10L)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2742462	NM_005585.5(SMAD6):c.29T>G (p.Val10Gly)	SMAD6 (V10G)	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 1404142	NM_005585.5(SMAD6):c.34C>T (p.Arg12Ter)	SMAD6 (R12*)	Single nucleotide variant (nonsense +1 more)	Aortic valve disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 405515	NM_005585.5(SMAD6):c.35G>A (p.Arg12Gln)	SMAD6 (R12Q)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2507219	NM_005585.5(SMAD6):c.39_40del (p.Trp14fs)	SMAD6 (W14fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1174550	NM_005585.5(SMAD6):c.38T>A (p.Leu13His)	SMAD6 (L13H)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis	GLikely pathogenic
Select item 970013	NM_005585.5(SMAD6):c.38T>G (p.Leu13Arg)	SMAD6 (L13R)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 1879296	NM_005585.5(SMAD6):c.40T>A (p.Trp14Arg)	SMAD6 (W14R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2727344	NM_005585.5(SMAD6):c.41G>A (p.Trp14Ter)	SMAD6 (W14*)	Single nucleotide variant (nonsense +1 more)	Aortic valve disease 2	GUncertain significance
Select item 471759	NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter)	SMAD6 (W14*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 2137722	NM_005585.5(SMAD6):c.43C>T (p.Arg15Ter)	SMAD6 (R15*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1740299	NM_005585.5(SMAD6):c.43C>A (p.Arg15=)	SMAD6	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 648761	NM_005585.5(SMAD6):c.43C>G (p.Arg15Gly)	SMAD6 (R15G)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2 +1 more	GUncertain significance
Select item 1744660	NM_005585.5(SMAD6):c.49C>A (p.Arg17Ser)	SMAD6 (R17S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2633868	NM_005585.5(SMAD6):c.53_69del (p.Val18fs)	SMAD6 (V18fs)	Deletion (frameshift variant +1 more)	SMAD6-related condition	GUncertain significance
Select item 1401494	NM_005585.5(SMAD6):c.53T>G (p.Val18Gly)	SMAD6 (V18G)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
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 2568138	NM_005585.5(SMAD6):c.55G>C (p.Val19Leu)	SMAD6 (V19L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 413448	NM_005585.5(SMAD6):c.61G>A (p.Asp21Asn)	SMAD6 (D21N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1130558	NM_005585.5(SMAD6):c.63C>T (p.Asp21=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 2291403	NM_005585.5(SMAD6):c.65G>A (p.Arg22Gln)	SMAD6 (R22Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1174571	NM_005585.5(SMAD6):c.67del (p.Glu23fs)	SMAD6 (E23fs)	Deletion (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 2587748	NM_005585.5(SMAD6):c.67G>A (p.Glu23Lys)	SMAD6 (E23K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1757641	NM_005585.5(SMAD6):c.71A>G (p.Glu24Gly)	SMAD6 (E24G)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2 +1 more	GUncertain significance
Select item 1584964	NM_005585.5(SMAD6):c.72A>G (p.Glu24=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
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 471762	NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del)	SMAD6	Deletion (inframe_deletion +1 more)	Aortic valve disease 2 +3 more	GUncertain significance
Select item 405512	NM_005585.5(SMAD6):c.75C>T (p.Gly25=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1493177	NM_005585.5(SMAD6):c.81CGG[5] (p.Gly33dup)	SMAD6	Microsatellite (inframe_insertion +1 more)	Aortic valve disease 2	GUncertain significance
Select item 539113	NM_005585.5(SMAD6):c.79A>G (p.Ser27Gly)	SMAD6 (S27G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 578329	NM_005585.5(SMAD6):c.80G>A (p.Ser27Asn)	SMAD6 (S27N)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 1174572	NM_005585.5(SMAD6):c.89_100dup (p.Gly30_Gly33dup)	SMAD6	Duplication (inframe_insertion +1 more)	Bicuspid aortic valve +2 more	GUncertain significance
Select item 1140564	NM_005585.5(SMAD6):c.81C>T (p.Ser27=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 661416	NM_005585.5(SMAD6):c.82G>A (p.Gly28Ser)	SMAD6 (G28S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1763640	NM_005585.5(SMAD6):c.84C>T (p.Gly28=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2 +1 more	GLikely benign
Select item 2569523	NM_005585.5(SMAD6):c.85G>A (p.Gly29Ser)	SMAD6 (G29S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 405516	NM_005585.5(SMAD6):c.92_100del (p.Gly31_Gly33del)	SMAD6	Deletion (inframe_deletion +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2777885	NM_005585.5(SMAD6):c.89_103dup (p.Asp34_Glu35insGlyGlyGlyGlyAsp)	SMAD6	Duplication (non-coding transcript variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 1184825	NM_005585.5(SMAD6):c.86G>C (p.Gly29Ala)	SMAD6 (G29A)	Single nucleotide variant (missense variant +1 more)	Thoracic aortic aneurysm	GLikely pathogenic
Select item 568988	NM_005585.5(SMAD6):c.89G>C (p.Gly30Ala)	SMAD6 (G30A)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 1367777	NM_005585.5(SMAD6):c.93_95del (p.Gly33del)	SMAD6 (G33del)	Deletion (inframe_deletion +1 more)	Aortic valve disease 2	GUncertain significance
Select item 1020400	NM_005585.5(SMAD6):c.91G>A (p.Gly31Ser)	SMAD6 (G31S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1122793	NM_005585.5(SMAD6):c.93T>A (p.Gly31=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 860108	NM_005585.5(SMAD6):c.95GCG[4] (p.Gly32_Gly33dup)	SMAD6	Microsatellite (inframe_insertion +1 more)	Aortic valve disease 2	GUncertain significance
Select item 699436	NM_005585.5(SMAD6):c.93T>C (p.Gly31=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2075266	NM_005585.5(SMAD6):c.97G>A (p.Gly33Ser)	SMAD6 (G33S)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 1389430	NM_005585.5(SMAD6):c.97G>T (p.Gly33Cys)	SMAD6 (G33C)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2005028	NM_005585.5(SMAD6):c.99C>T (p.Gly33=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 1580114	NM_005585.5(SMAD6):c.102C>T (p.Asp34=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1776502	NM_005585.5(SMAD6):c.104A>G (p.Glu35Gly)	SMAD6 (E35G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 690422	NM_005585.5(SMAD6):c.106dup (p.Asp36fs)	SMAD6 (D36fs)	Duplication (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 1779934	NM_005585.5(SMAD6):c.105G>A (p.Glu35=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2077311	NM_005585.5(SMAD6):c.107_128dup (p.Glu44fs)	SMAD6 (E44fs)	Duplication (frameshift variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 837002	NM_005585.5(SMAD6):c.106G>T (p.Asp36Tyr)	SMAD6 (D36Y)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 240174	NM_005585.5(SMAD6):c.106G>A (p.Asp36Asn)	SMAD6 (D36N)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2063854	NM_005585.5(SMAD6):c.107A>C (p.Asp36Ala)	SMAD6 (D36A)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 1785922	NM_005585.5(SMAD6):c.107A>T (p.Asp36Val)	SMAD6 (D36V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1403706	NM_005585.5(SMAD6):c.107A>G (p.Asp36Gly)	SMAD6 (D36G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 2525878	NM_005585.5(SMAD6):c.115T>G (p.Leu39Val)	SMAD6 (L39V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 240176	NM_005585.5(SMAD6):c.120C>T (p.Gly40=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 240175	NM_005585.5(SMAD6):c.120C>A (p.Gly40=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	SMAD6-related condition +3 more	GBenign/Likely benign
Select item 444344	NM_005585.5(SMAD6):c.124C>T (p.Arg42Ter)	SMAD6 (R42*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1433429	NM_005585.5(SMAD6):c.125G>A (p.Arg42Gln)	SMAD6 (R42Q)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2 +1 more	GUncertain significance
Select item 2196044	NM_005585.5(SMAD6):c.127G>C (p.Ala43Pro)	SMAD6 (A43P)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 935045	NM_005585.5(SMAD6):c.134C>G (p.Pro45Arg)	SMAD6 (P45R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1603476	NM_005585.5(SMAD6):c.135G>C (p.Pro45=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2	GLikely benign
Select item 1562347	NM_005585.5(SMAD6):c.135G>A (p.Pro45=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1174557	NM_005585.5(SMAD6):c.136del (p.Ala46fs)	SMAD6 (A46fs)	Deletion (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 1423400	NM_005585.5(SMAD6):c.137C>T (p.Ala46Val)	SMAD6 (A46V)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 471749	NM_005585.5(SMAD6):c.139C>T (p.Pro47Ser)	SMAD6 (P47S)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GBenign
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 539117	NM_005585.5(SMAD6):c.141G>A (p.Pro47=)	SMAD6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign

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