SMAD6[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1548481.	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 GRCh37: Chr15:60120659-102461201 GRCh38: Chr15:59828460-101920998	AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, ADPGK-AS1, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANKDD1A, ANKRD34C, ANKRD34C-AS1, ANP32A, ANP32A-IT1, ANPEP, ANXA2, AP3B2, AP3S2, APH1B, ARID3B, ARIH1, ARNT2, ARNT2-DT, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BBS4, BCL2A1, BLM, BNC1, BTBD1, C15orf32, C15orf39, C15orf40, C15orf61, C2CD4A, C2CD4B, CA12, CALML4, CARMAL, CCDC33, CD276, CELF6, CEMIP, CERS3, CERS3-AS1, CFAP161, CHASERR, CHD2, CHRNA3, CHRNA5, CHRNB4, CHSY1, CIAO2A, CIB1, CIB2, CILP, CLK3, CLN6, CLPX, COMMD4, CORO2B, COX5A, CPEB1, CPEB1-AS1, CPLX3, CRABP1, CRAT37, CRTC3, CRTC3-AS1, CSK, CSNK1G1, CSPG4, CT62, CTSH, CTXND1, CYP11A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DIS3L-AS1, DNAJA4, DNAJA4-DT, DPP8, DRAIC, EDC3, EFL1, ETFA, EWSAT1, FAH, FAM174B, FAM219B, FANCI, FBXL22, FBXO22, FBXO22-AS1, FEM1B, FES, FOXB1, FSD2, FURIN, GCAWKR, GDPGP1, GLCE, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L10, GOLGA6L4, GOLGA6L9, GRAMD2A, HACD3, HAPLN3, HCN4, HDDC3, HDGFL3, HERC1, HEXA, HEXA-AS1, HIGD2B, HMG20A, HOMER2, HYKK, ICE2, IDH2, IDH2-DT, IDH3A, IGDCC3, IGDCC4, IGF1R, IL16, IMP3, INSYN1, INSYN1-AS1, INTS14, IQCH, IQCH-AS1, IQGAP1, IRAIN, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, KBTBD13, KIF23, KIF23-AS1, KIF7, KLHL25, LACTB, LARP6, LCTL, LETR1, LINC00052, LINC00593, LINC00597, LINC00923, LINC00924, LINC00927, LINC00928, LINC00930, LINC00933, LINC01169, LINC01418, LINC01579, LINC01580, LINC01581, LINC01582, LINC01583, LINC01584, LINC01585, LINC01586, LINC02204, LINC02205, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02255, LINC02259, LINC02348, LINC02349, LINC02351, LINC02568, LINC02883, LINGO1, LINGO1-AS1, LINGO1-AS2, LINS1, LMAN1L, LOC100128979, LOC100129540, LOC100507472, LOC101927310, LOC101928988, LOC101929439, LOC101929457, LOC101929586, LOC102723335, LOC102724034, LOC102724452, LOC103171574, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC107984784, LOC107988046, LOC107992387, LOC108251791, LOC108281191, LOC108964933, LOC110120860, LOC110120861, LOC110120917, LOC110121345, LOC110121383, LOC110121430, LOC110121464, LOC110121491, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC111365216, LOC111413015, LOC111413032, LOC111413043, LOC111562369, LOC111718493, LOC111822949, LOC112272574, LOC112272602, LOC112272603, LOC112272604, LOC112272605, LOC112272606, LOC112272607, LOC112272608, LOC112272609, LOC112272610, LOC112272613, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC112272618, LOC112272619, LOC112272620, LOC112272621, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC113939945, LOC113939946, LOC113939947, LOC114827858, LOC116268467, LOC116268468, LOC116268469, LOC116268470, LOC116268471, LOC116268472, LOC116268473, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC120285840, LOC121530585, LOC121530586, LOC121530587, LOC121530588, LOC121530589, LOC121530590, LOC121530591, LOC121530592, LOC121530593, LOC121530594, LOC121530595, LOC121530596, LOC121530597, LOC121530598, LOC121530599, LOC121530600, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847953, LOC121847954, LOC121847955, LOC121847956, LOC121847957, LOC121847958, LOC121847959, LOC121847960, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125078089, LOC125078090, LOC125078091, LOC125078093, LOC125078094, LOC125078095, LOC125078096, LOC125078097, LOC125078098, LOC125078099, LOC125078100, LOC125078101, LOC125078102, LOC125078103, LOC125078104, LOC125110343, LOC125110344, LOC125110345, LOC125110346, LOC125110347, LOC125110348, LOC125110349, LOC125110350, LOC125110351, LOC125110352, LOC125110353, LOC125110354, LOC125110355, LOC125110356, LOC125110357, LOC125138289, LOC125138290, LOC125138291, LOC125138292, LOC125138293, LOC125138294, LOC125138295, LOC125138296, LOC125138297, LOC125138298, LOC125138299, LOC125138300, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862143, LOC126862144, LOC126862145, LOC126862146, LOC126862147, LOC126862148, LOC126862149, LOC126862150, LOC126862151, LOC126862152, LOC126862153, LOC126862154, LOC126862155, LOC126862156, LOC126862157, LOC126862158, LOC126862159, LOC126862160, LOC126862161, LOC126862162, LOC126862163, LOC126862164, LOC126862165, LOC126862166, LOC126862167, LOC126862168, LOC126862169, LOC126862170, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC126862183, LOC126862184, LOC126862185, LOC126862186, LOC126862187, LOC126862188, LOC126862189, LOC126862190, LOC126862191, LOC126862192, LOC126862193, LOC126862194, LOC126862195, LOC126862196, LOC126862197, LOC126862198, LOC126862199, LOC126862200, LOC126862201, LOC126862202, LOC126862203, LOC126862204, LOC126862205, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LOC128071545, LOC283731, LOC91450, LOXL1, LOXL1-AS1, LRRC28, LRRC49, LRRK1, LUNAR1, LYSMD4, MAN2A2, MAN2C1, MAP2K1, MAP2K5, MCTP2, MEF2A, MEGF11, MESD, MESP1, MESP2, MEX3B, MFGE8, MGC15885, MINAR1, MIR11181, MIR1179, MIR12135, MIR1272, MIR1276, MIR1469, MIR184, MIR190A, MIR3174, MIR3175, MIR3529, MIR3713, MIR422A, MIR4311, MIR4312, MIR4313, MIR4511, MIR4512, MIR4513, MIR4514, MIR4515, MIR4714, MIR5009, MIR5094, MIR548AP, MIR549A, MIR5572, MIR6085, MIR629, MIR630, MIR631, MIR6766, MIR6881, MIR6882, MIR7-2, MIR7706, MIR8067, MIR9-3, MIR9-3HG, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MYO9A, NEIL1, NEO1, NGRN, NMB, NOX5, NPTN, NPTN-IT1, NR2E3, NR2F2, NR2F2-AS1, NRG4, NTRK3, NTRK3-AS1, OAZ2, ODF3L1, OR4F15, OR4F6, PAQR5, PAQR5-DT, PARP16, PARP6, PCAT29, PCLAF, PCSK6, PCSK6-AS1, PDCD7, PDE8A, PEAK1, PEX11A, PGPEP1L, PIAS1, PIF1, PIRC76, PKM, PLEKHO2, PLIN1, PML, POLG, POLGARF, PPCDC, PPIB, PRC1, PRC1-AS1, PSMA4, PSTPIP1, PTPN9, RAB11A, RAB8B, RAMAC, RASGRF1, RASL12, RBPMS2, RCCD1, RCCD1-AS1, RCN2, REC114, RGMA, RHCG, RLBP1, RNU5A-1, RNU5B-1, RNU6-1, RORA, RORA-AS1, RORA-AS2, RPL4, RPLP1, RPP25, RPS17, RPS27L, SALRNA2, SALRNA3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA14, SCARNA15, SEC11A, SELENOS, SEMA4B, SEMA7A, SENP8, SH2D7, SH3GL3, SLC51B, SIN3A, SKIC8, SKOR1, SKOR1-AS1, SLC24A1, SLC28A1, SLCO3A1, SMAD3, SMAD3-DT, SMAD6, SMASR, SNAPC5, SNHG21, SNORA24B, SNORD13E, SNORD16, SNORD18A, SNORD18B, SNORD18C, SNRPA1, SNRPA1-DT, SNUPN, SNX1, SNX22, SNX33, SPATA41, SPATA8, SPATA8-AS1, SPESP1, SPG21, ST20, ST20-AS1, ST20-MTHFS, ST8SIA2, STARD5, STOML1, STRA6, SV2B, SYNM, SYNM-AS1, TARS3, TBC1D21, TBC1D2B, THAP10, THSD4, THSD4-AS1, THSD4-AS2, TICRR, TIPIN, TLE3, TLN2, TLNRD1, TM2D3, TM6SF1, TMC3, TMC3-AS1, TMED3, TMEM202, TMEM202-AS1, TMEM266, TPM1, TPM1-AS, TRC-GCA5-1, TRIP4, TRK-CTT1-2, TRQ-CTG1-4, TRR-TCG1-1, TSPAN3, TTC23, TTLL13, UACA, UBAP1L, UBE2Q2, UBL7, UBL7-DT, ULK3, UNC45A, USP3, USP3-AS1, VPS13C, VPS13C-DT, VPS33B, VPS33B-DT, WDR73, WDR93, WHAMM, ZFAND6, ZNF592, ZNF609, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2, ZWILCH		See cases	Pathogenic (Oct 24, 2012)	no assertion criteria provided
Select item 12260592.	NM_005585.5(SMAD6):c.-767C>T GRCh37: Chr15:66994830 GRCh38: Chr15:66702492	SMAD6		not provided	Benign (Sep 4, 2018)	criteria provided, single submitter
Select item 12468023.	NM_005585.5(SMAD6):c.-274G>A GRCh37: Chr15:66995323 GRCh38: Chr15:66702985	SMAD6		not provided	Benign (Sep 4, 2018)	criteria provided, single submitter
Select item 12085554.	NM_005585.5(SMAD6):c.-44C>T GRCh37: Chr15:66995553 GRCh38: Chr15:66703215	SMAD6		not provided	Likely benign (Jul 29, 2019)	criteria provided, single submitter
Select item 6573875.	NC_000015.10:g.(?_66703239)_(67190556_?)del GRCh37: Chr15:66995577-67482894 GRCh38: Chr15:66703239-67190556	LOC110120917, LOC111365216, LOC111413015, LOC111413043, LOC121530586, LOC121847954, LOC125110346, LOC125110347, LOC125110348, LOC126862158, LOC126862159, LOC126862160, SMAD3, SMAD3-DT, SMAD6, SMASR		Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 1, 2018)	criteria provided, single submitter
Select item 5843986.	NC_000015.10:g.(?_66703239)_(67066380_?)del GRCh37: Chr15:66995577-67358718 GRCh38: Chr15:66703239-67066380	LOC125110346, LOC125110347, LOC126862158, LOC126862159, LOC126862160, LOC110120917, LOC111413015, LOC111413043, LOC121847954, SMAD3, SMAD3-DT, SMAD6, SMASR		Aortic valve disease 2, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Jul 15, 2019)	criteria provided, conflicting interpretations
Select item 19699337.	NM_005585.5(SMAD6):c.1A>G (p.Met1Val) GRCh37: Chr15:66995597 GRCh38: Chr15:66703259	SMAD6	M1V	Aortic valve disease 2	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 21708678.	NM_005585.5(SMAD6):c.2T>A (p.Met1Lys) GRCh37: Chr15:66995598 GRCh38: Chr15:66703260	SMAD6	M1K	Aortic valve disease 2	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 11745599.	NM_005585.5(SMAD6):c.2T>C (p.Met1Thr) GRCh37: Chr15:66995598 GRCh38: Chr15:66703260	SMAD6	M1T	not provided	Uncertain significance (Dec 28, 2020)	criteria provided, single submitter
Select item 117454710.	NM_005585.5(SMAD6):c.3dup (p.Phe2fs) GRCh37: Chr15:66995598-66995599 GRCh38: Chr15:66703260-66703261	SMAD6	F2fs	Radioulnar synostosis	Pathogenic (Jun 20, 2020)	no assertion criteria provided
Select item 47175611.	NM_005585.5(SMAD6):c.2T>G (p.Met1Arg) GRCh37: Chr15:66995598 GRCh38: Chr15:66703260	SMAD6	M1R	Aortic valve disease 2, Aneurysm-osteoarthritis syndrome	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 104745512.	NM_005585.5(SMAD6):c.8G>A (p.Arg3Lys) GRCh37: Chr15:66995604 GRCh38: Chr15:66703266	SMAD6	R3K	Aortic valve disease 2, Inborn genetic diseases	Uncertain significance (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 232983313.	NM_005585.5(SMAD6):c.9G>T (p.Arg3Ser) GRCh37: Chr15:66995605 GRCh38: Chr15:66703267	SMAD6	R3S	Inborn genetic diseases	Uncertain significance (Nov 30, 2022)	criteria provided, single submitter
Select item 217612214.	NM_005585.5(SMAD6):c.12C>T (p.Ser4_Lys5=) GRCh37: Chr15:66995608 GRCh38: Chr15:66703270	SMAD6		Aortic valve disease 2	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 119825615.	NM_005585.5(SMAD6):c.16C>T (p.Arg6Cys) GRCh37: Chr15:66995612 GRCh38: Chr15:66703274	SMAD6	R6C	not provided	Uncertain significance (Oct 4, 2019)	criteria provided, single submitter
Select item 137843216.	NM_005585.5(SMAD6):c.19T>C (p.Ser7Pro) GRCh37: Chr15:66995615 GRCh38: Chr15:66703277	SMAD6	S7P	Aortic valve disease 2	Uncertain significance (Aug 29, 2021)	criteria provided, single submitter
Select item 117456317.	NM_005585.5(SMAD6):c.24del (p.Leu9fs) GRCh37: Chr15:66995617 GRCh38: Chr15:66703279	SMAD6	L9fs	Radioulnar synostosis	Pathogenic (Jun 20, 2020)	no assertion criteria provided
Select item 110133218.	NM_005585.5(SMAD6):c.21G>A (p.Ser7=) GRCh37: Chr15:66995617 GRCh38: Chr15:66703279	SMAD6		Aortic valve disease 2	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 101132719.	NM_005585.5(SMAD6):c.25C>T (p.Leu9=) GRCh37: Chr15:66995621 GRCh38: Chr15:66703283	SMAD6		Aortic valve disease 2	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 219559320.	NM_005585.5(SMAD6):c.26T>C (p.Leu9Pro) GRCh37: Chr15:66995622 GRCh38: Chr15:66703284	SMAD6	L9P	Aortic valve disease 2	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 140414221.	NM_005585.5(SMAD6):c.34C>T (p.Arg12Ter) GRCh37: Chr15:66995630 GRCh38: Chr15:66703292	SMAD6	R12*	Aortic valve disease 2	Uncertain significance (Nov 23, 2021)	criteria provided, single submitter
Select item 40551522.	NM_005585.5(SMAD6):c.35G>A (p.Arg12Gln) GRCh37: Chr15:66995631 GRCh38: Chr15:66703293	SMAD6	R12Q	Aortic valve disease 2	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 117455023.	NM_005585.5(SMAD6):c.38T>A (p.Leu13His) GRCh37: Chr15:66995634 GRCh38: Chr15:66703296	SMAD6	L13H	Radioulnar synostosis	Likely pathogenic (Jun 20, 2020)	no assertion criteria provided
Select item 97001324.	NM_005585.5(SMAD6):c.38T>G (p.Leu13Arg) GRCh37: Chr15:66995634 GRCh38: Chr15:66703296	SMAD6	L13R	Aortic valve disease 2	Uncertain significance (Oct 13, 2021)	criteria provided, single submitter
Select item 187929625.	NM_005585.5(SMAD6):c.40T>A (p.Trp14Arg) GRCh37: Chr15:66995636 GRCh38: Chr15:66703298	SMAD6	W14R	not provided	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 47175926.	NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) GRCh37: Chr15:66995638 GRCh38: Chr15:66703300	SMAD6	W14*	Aortic valve disease 2, Aneurysm-osteoarthritis syndrome, not provided	Uncertain significance (Jul 26, 2019)	criteria provided, multiple submitters, no conflicts
Select item 213772227.	NM_005585.5(SMAD6):c.43C>T (p.Arg15Ter) GRCh37: Chr15:66995639 GRCh38: Chr15:66703301	SMAD6	R15*	Aortic valve disease 2	Uncertain significance (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174029928.	NM_005585.5(SMAD6):c.43C>A (p.Arg15_Ser16=) GRCh37: Chr15:66995639 GRCh38: Chr15:66703301	SMAD6		Inborn genetic diseases	Likely benign (Jul 26, 2019)	criteria provided, single submitter
Select item 64876129.	NM_005585.5(SMAD6):c.43C>G (p.Arg15Gly) GRCh37: Chr15:66995639 GRCh38: Chr15:66703301	SMAD6	R15G	Aortic valve disease 2, not provided	Uncertain significance (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174466030.	NM_005585.5(SMAD6):c.49C>A (p.Arg17Ser) GRCh37: Chr15:66995645 GRCh38: Chr15:66703307	SMAD6	R17S	Inborn genetic diseases	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 140149431.	NM_005585.5(SMAD6):c.53T>G (p.Val18Gly) GRCh37: Chr15:66995649 GRCh38: Chr15:66703311	SMAD6	V18G	Aortic valve disease 2	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 41344832.	NM_005585.5(SMAD6):c.61G>A (p.Asp21Asn) GRCh37: Chr15:66995657 GRCh38: Chr15:66703319	SMAD6	D21N	Inborn genetic diseases, not provided, Aortic valve disease 2	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113055833.	NM_005585.5(SMAD6):c.63C>T (p.Asp21=) GRCh37: Chr15:66995659 GRCh38: Chr15:66703321	SMAD6		Aortic valve disease 2	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 229140334.	NM_005585.5(SMAD6):c.65G>A (p.Arg22Gln) GRCh37: Chr15:66995661 GRCh38: Chr15:66703323	SMAD6	R22Q	Inborn genetic diseases	Uncertain significance (May 26, 2022)	criteria provided, single submitter
Select item 117457135.	NM_005585.5(SMAD6):c.67del (p.Glu23fs) GRCh37: Chr15:66995661 GRCh38: Chr15:66703323	SMAD6	E23fs	Radioulnar synostosis	Pathogenic (Jun 20, 2020)	no assertion criteria provided
Select item 175764136.	NM_005585.5(SMAD6):c.71A>G (p.Glu24Gly) GRCh37: Chr15:66995667 GRCh38: Chr15:66703329	SMAD6	E24G	Inborn genetic diseases, Aortic valve disease 2	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158496437.	NM_005585.5(SMAD6):c.72A>G (p.Glu24=) GRCh37: Chr15:66995668 GRCh38: Chr15:66703330	SMAD6		Aortic valve disease 2, Inborn genetic diseases	Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47176238.	NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del) GRCh37: Chr15:66995670-66995675 GRCh38: Chr15:66703332-66703337	SMAD6		not provided, Aortic valve disease 2, Craniosynostosis 7, Aortic valve disease 2	Uncertain significance (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40551239.	NM_005585.5(SMAD6):c.75C>T (p.Gly25=) GRCh37: Chr15:66995671 GRCh38: Chr15:66703333	SMAD6		Inborn genetic diseases, Aortic valve disease 2	Likely benign (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149317740.	NM_005585.5(SMAD6):c.81CGG[5] (p.Gly33dup) GRCh37: Chr15:66995675-66995676 GRCh38: Chr15:66703337-66703338	SMAD6		Aortic valve disease 2	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 53911341.	NM_005585.5(SMAD6):c.79A>G (p.Ser27Gly) GRCh37: Chr15:66995675 GRCh38: Chr15:66703337	SMAD6	S27G	Inborn genetic diseases, Aortic valve disease 2	Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57832942.	NM_005585.5(SMAD6):c.80G>A (p.Ser27Asn) GRCh37: Chr15:66995676 GRCh38: Chr15:66703338	SMAD6	S27N	Aneurysm-osteoarthritis syndrome, Aortic valve disease 2	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 117457243.	NM_005585.5(SMAD6):c.89_100dup (p.Gly30_Gly33dup) GRCh37: Chr15:66995677-66995678 GRCh38: Chr15:66703339-66703340	SMAD6		Radioulnar synostosis, Heart, malformation of, Bicuspid aortic valve	Uncertain significance (Jun 20, 2020)	no assertion criteria provided
Select item 114056444.	NM_005585.5(SMAD6):c.81C>T (p.Ser27=) GRCh37: Chr15:66995677 GRCh38: Chr15:66703339	SMAD6		Aortic valve disease 2	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 66141645.	NM_005585.5(SMAD6):c.82G>A (p.Gly28Ser) GRCh37: Chr15:66995678 GRCh38: Chr15:66703340	SMAD6	G28S	Inborn genetic diseases, Aortic valve disease 2	Uncertain significance (Oct 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 176364046.	NM_005585.5(SMAD6):c.84C>T (p.Gly28_Gly29=) GRCh37: Chr15:66995680 GRCh38: Chr15:66703342	SMAD6		Inborn genetic diseases	Likely benign (Jan 20, 2021)	criteria provided, single submitter
Select item 40551647.	NM_005585.5(SMAD6):c.92_100del (p.Gly31_Gly33del) GRCh37: Chr15:66995681-66995689 GRCh38: Chr15:66703343-66703351	SMAD6		Aortic valve disease 2	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 118482548.	NM_005585.5(SMAD6):c.86G>C (p.Gly29Ala) GRCh37: Chr15:66995682 GRCh38: Chr15:66703344	SMAD6	G29A	Thoracic aortic aneurysm	Likely pathogenic	no assertion criteria provided
Select item 56898849.	NM_005585.5(SMAD6):c.89G>C (p.Gly30Ala) GRCh37: Chr15:66995685 GRCh38: Chr15:66703347	SMAD6	G30A	Aortic valve disease 2, Aneurysm-osteoarthritis syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 136777750.	NM_005585.5(SMAD6):c.93_95del (p.Gly33del) GRCh37: Chr15:66995687-66995689 GRCh38: Chr15:66703349-66703351	SMAD6	G33del	Aortic valve disease 2	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 102040051.	NM_005585.5(SMAD6):c.91G>A (p.Gly31Ser) GRCh37: Chr15:66995687 GRCh38: Chr15:66703349	SMAD6	G31S	Aortic valve disease 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 112279352.	NM_005585.5(SMAD6):c.93T>A (p.Gly31=) GRCh37: Chr15:66995689 GRCh38: Chr15:66703351	SMAD6		Aortic valve disease 2	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 86010853.	NM_005585.5(SMAD6):c.95GCG[4] (p.Gly32_Gly33dup) GRCh37: Chr15:66995689-66995690 GRCh38: Chr15:66703351-66703352	SMAD6		Aortic valve disease 2	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 69943654.	NM_005585.5(SMAD6):c.93T>C (p.Gly31=) GRCh37: Chr15:66995689 GRCh38: Chr15:66703351	SMAD6		Inborn genetic diseases, Aortic valve disease 2	Likely benign (Jul 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207526655.	NM_005585.5(SMAD6):c.97G>A (p.Gly33Ser) GRCh37: Chr15:66995693 GRCh38: Chr15:66703355	SMAD6	G33S	Aortic valve disease 2	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 138943056.	NM_005585.5(SMAD6):c.97G>T (p.Gly33Cys) GRCh37: Chr15:66995693 GRCh38: Chr15:66703355	SMAD6	G33C	Aortic valve disease 2	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 200502857.	NM_005585.5(SMAD6):c.99C>T (p.Gly33_Asp34=) GRCh37: Chr15:66995695 GRCh38: Chr15:66703357	SMAD6		Aortic valve disease 2	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 158011458.	NM_005585.5(SMAD6):c.102C>T (p.Asp34=) GRCh37: Chr15:66995698 GRCh38: Chr15:66703360	SMAD6		Inborn genetic diseases, Aortic valve disease 2	Likely benign (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177650259.	NM_005585.5(SMAD6):c.104A>G (p.Glu35Gly) GRCh37: Chr15:66995700 GRCh38: Chr15:66703362	SMAD6	E35G	Inborn genetic diseases, Aortic valve disease 2	Uncertain significance (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69042260.	NM_005585.5(SMAD6):c.106dup (p.Asp36fs) GRCh37: Chr15:66995700-66995701 GRCh38: Chr15:66703362-66703363	SMAD6	D36fs	Radioulnar synostosis	Pathogenic (May 14, 2019)	no assertion criteria provided
Select item 177993461.	NM_005585.5(SMAD6):c.105G>A (p.Glu35_Asp36=) GRCh37: Chr15:66995701 GRCh38: Chr15:66703363	SMAD6		Inborn genetic diseases	Likely benign (Jan 27, 2020)	criteria provided, single submitter
Select item 207731162.	NM_005585.5(SMAD6):c.107_128dup (p.Glu44fs) GRCh37: Chr15:66995702-66995703 GRCh38: Chr15:66703364-66703365	SMAD6	E44fs	Aortic valve disease 2	Uncertain significance (Oct 6, 2022)	criteria provided, single submitter
Select item 83700263.	NM_005585.5(SMAD6):c.106G>T (p.Asp36Tyr) GRCh37: Chr15:66995702 GRCh38: Chr15:66703364	SMAD6	D36Y	Aortic valve disease 2	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 24017464.	NM_005585.5(SMAD6):c.106G>A (p.Asp36Asn) GRCh37: Chr15:66995702 GRCh38: Chr15:66703364	SMAD6	D36N	Aortic valve disease 2	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 206385465.	NM_005585.5(SMAD6):c.107A>C (p.Asp36Ala) GRCh37: Chr15:66995703 GRCh38: Chr15:66703365	SMAD6	D36A	Aortic valve disease 2	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 178592266.	NM_005585.5(SMAD6):c.107A>T (p.Asp36Val) GRCh37: Chr15:66995703 GRCh38: Chr15:66703365	SMAD6	D36V	Inborn genetic diseases	Uncertain significance (Aug 2, 2021)	criteria provided, single submitter
Select item 140370667.	NM_005585.5(SMAD6):c.107A>G (p.Asp36Gly) GRCh37: Chr15:66995703 GRCh38: Chr15:66703365	SMAD6	D36G	Inborn genetic diseases, Aortic valve disease 2	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24017668.	NM_005585.5(SMAD6):c.120C>T (p.Gly40=) GRCh37: Chr15:66995716 GRCh38: Chr15:66703378	SMAD6		Aortic valve disease 2, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24017569.	NM_005585.5(SMAD6):c.120C>A (p.Gly40=) GRCh37: Chr15:66995716 GRCh38: Chr15:66703378	SMAD6		Aortic valve disease 2, Inborn genetic diseases	Benign/Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44434470.	NM_005585.5(SMAD6):c.124C>T (p.Arg42Ter) GRCh37: Chr15:66995720 GRCh38: Chr15:66703382	SMAD6	R42*	not provided, Aortic valve disease 2	Conflicting interpretations of pathogenicity (Apr 8, 2021)	criteria provided, conflicting interpretations
Select item 143342971.	NM_005585.5(SMAD6):c.125G>A (p.Arg42Gln) GRCh37: Chr15:66995721 GRCh38: Chr15:66703383	SMAD6	R42Q	Aortic valve disease 2, Inborn genetic diseases	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219604472.	NM_005585.5(SMAD6):c.127G>C (p.Ala43Pro) GRCh37: Chr15:66995723 GRCh38: Chr15:66703385	SMAD6	A43P	Aortic valve disease 2	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 93504573.	NM_005585.5(SMAD6):c.134C>G (p.Pro45Arg) GRCh37: Chr15:66995730 GRCh38: Chr15:66703392	SMAD6	P45R	Aortic valve disease 2	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 160347674.	NM_005585.5(SMAD6):c.135G>C (p.Pro45=) GRCh37: Chr15:66995731 GRCh38: Chr15:66703393	SMAD6		Aortic valve disease 2	Likely benign (Sep 8, 2021)	criteria provided, single submitter
Select item 156234775.	NM_005585.5(SMAD6):c.135G>A (p.Pro45=) GRCh37: Chr15:66995731 GRCh38: Chr15:66703393	SMAD6		Aortic valve disease 2, Inborn genetic diseases	Likely benign (Sep 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117455776.	NM_005585.5(SMAD6):c.136del (p.Ala46fs) GRCh37: Chr15:66995731 GRCh38: Chr15:66703393	SMAD6	A46fs	Radioulnar synostosis	Pathogenic (Jun 20, 2020)	no assertion criteria provided
Select item 142340077.	NM_005585.5(SMAD6):c.137C>T (p.Ala46Val) GRCh37: Chr15:66995733 GRCh38: Chr15:66703395	SMAD6	A46V	Aortic valve disease 2	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 47174978.	NM_005585.5(SMAD6):c.139C>T (p.Pro47Ser) GRCh37: Chr15:66995735 GRCh38: Chr15:66703397	SMAD6	P47S	Aortic valve disease 2	Benign (Oct 30, 2022)	criteria provided, single submitter
Select item 53911779.	NM_005585.5(SMAD6):c.141G>A (p.Pro47=) GRCh37: Chr15:66995737 GRCh38: Chr15:66703399	SMAD6		Inborn genetic diseases, Aortic valve disease 2	Likely benign (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177290980.	NM_005585.5(SMAD6):c.144G>A (p.Arg48_Ala49=) GRCh37: Chr15:66995740 GRCh38: Chr15:66703402	SMAD6		Inborn genetic diseases	Likely benign (Feb 17, 2021)	criteria provided, single submitter
Select item 202744381.	NM_005585.5(SMAD6):c.148A>T (p.Arg50Ter) GRCh37: Chr15:66995744 GRCh38: Chr15:66703406	SMAD6	R50*	Aortic valve disease 2	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 207643982.	NM_005585.5(SMAD6):c.153G>C (p.Glu51Asp) GRCh37: Chr15:66995749 GRCh38: Chr15:66703411	SMAD6	E51D	Aortic valve disease 2	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 144927483.	NM_005585.5(SMAD6):c.157G>A (p.Gly53Arg) GRCh37: Chr15:66995753 GRCh38: Chr15:66703415	SMAD6	G53R	Aortic valve disease 2	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 106039784.	NM_005585.5(SMAD6):c.158G>A (p.Gly53Glu) GRCh37: Chr15:66995754 GRCh38: Chr15:66703416	SMAD6	G53E	Aortic valve disease 2	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 204053285.	NM_005585.5(SMAD6):c.161G>T (p.Gly54Val) GRCh37: Chr15:66995757 GRCh38: Chr15:66703419	SMAD6	G54V	Aortic valve disease 2	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 117458686.	NM_005585.5(SMAD6):c.165C>A (p.Cys55Ter) GRCh37: Chr15:66995761 GRCh38: Chr15:66703423	SMAD6	C55*	Radioulnar synostosis, Abnormal axial skeleton morphology	Pathogenic (Jun 20, 2020)	no assertion criteria provided
Select item 195785887.	NM_005585.5(SMAD6):c.169C>A (p.Arg57Ser) GRCh37: Chr15:66995765 GRCh38: Chr15:66703427	SMAD6	R57S	Aortic valve disease 2	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 177853688.	NM_005585.5(SMAD6):c.170G>T (p.Arg57Leu) GRCh37: Chr15:66995766 GRCh38: Chr15:66703428	SMAD6	R57L	Inborn genetic diseases	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 64114189.	NM_005585.5(SMAD6):c.170_171delinsTT (p.Arg57Leu) GRCh37: Chr15:66995766-66995767 GRCh38: Chr15:66703428-66703429	SMAD6	R57L	Aortic valve disease 2	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 177871190.	NM_005585.5(SMAD6):c.171C>T (p.Arg57_Ser58=) GRCh37: Chr15:66995767 GRCh38: Chr15:66703429	SMAD6		Inborn genetic diseases	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 47175091.	NM_005585.5(SMAD6):c.171C>G (p.Arg57=) GRCh37: Chr15:66995767 GRCh38: Chr15:66703429	SMAD6		Inborn genetic diseases, Aortic valve disease 2	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57121392.	NM_005585.5(SMAD6):c.173C>G (p.Ser58Cys) GRCh37: Chr15:66995769 GRCh38: Chr15:66703431	SMAD6	S58C	Aortic valve disease 2, Inborn genetic diseases	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219678493.	NM_005585.5(SMAD6):c.178G>T (p.Val60Phe) GRCh37: Chr15:66995774 GRCh38: Chr15:66703436	SMAD6	V60F	Aortic valve disease 2	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 100743994.	NM_005585.5(SMAD6):c.178G>A (p.Val60Ile) GRCh37: Chr15:66995774 GRCh38: Chr15:66703436	SMAD6	V60I	Inborn genetic diseases, Aortic valve disease 2	Uncertain significance (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111800095.	NM_005585.5(SMAD6):c.180C>G (p.Val60=) GRCh37: Chr15:66995776 GRCh38: Chr15:66703438	SMAD6		Inborn genetic diseases, Aortic valve disease 2	Likely benign (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96807296.	NM_005585.5(SMAD6):c.182G>C (p.Arg61Pro) GRCh37: Chr15:66995778 GRCh38: Chr15:66703440	SMAD6	R61P	Aortic valve disease 2	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 150047797.	NM_005585.5(SMAD6):c.187G>A (p.Val63Ile) GRCh37: Chr15:66995783 GRCh38: Chr15:66703445	SMAD6	V63I	Aortic valve disease 2	Uncertain significance (Oct 29, 2021)	criteria provided, single submitter
Select item 157508998.	NM_005585.5(SMAD6):c.192C>G (p.Ala64=) GRCh37: Chr15:66995788 GRCh38: Chr15:66703450	SMAD6		Aortic valve disease 2	Likely benign (Jul 31, 2021)	criteria provided, single submitter
Select item 47175199.	NM_005585.5(SMAD6):c.192C>T (p.Ala64=) GRCh37: Chr15:66995788 GRCh38: Chr15:66703450	SMAD6		Aortic valve disease 2, Aneurysm-osteoarthritis syndrome	Likely benign (Nov 12, 2021)	criteria provided, single submitter
Select item 405518100.	NM_005585.5(SMAD6):c.194C>G (p.Pro65Arg) GRCh37: Chr15:66995790 GRCh38: Chr15:66703452	SMAD6	P65R	Aortic valve disease 2	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter

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