Unique variants in the SMAD4 gene

Information The variants shown are described using the NM_005359.5 transcript reference sequence.

226 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+, ?/? 5 - c.? r.(?) p.(?), p.? ACMG pathogenic (dominant), VUS g.? - IVS10+109A>G, IVS11+118A>G, t(1;18)(p36.1;q21.1), 1 more item - SMAD4_000000, SMCHD1_000000 ACMG PM2 Hao et al 2017, IJCEM, IJCEM0043096, Journal: Brusgaard 2017, PubMed: Tram 2011, Journal: Tram 2011 - - Germline - - - - - Karl Heinimann, Benjamin Tschupp
./. 1 - c.-194457_*29410343del r.0? p.0? - pathogenic g.48362664_78015180del - - - ATP8B1_000025 mosaicism, hemizygous in 0.46 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen
+/. 4 _1_13_ c.(?_-17093)_(*6575_?)del r.0 p.0 - pathogenic (dominant) g.(?_48540028)_(48611412 _?)del - ‐17093‐?_1659+?del - SMAD4_000133 - PubMed: Aretz 2007 - - De novo, Germline - - - - - Johan den Dunnen
?/+ 1 _1 c.(?_-1382)_(-128+2238_-127-1)del r.0? p.0? ACMG VUS g.(?_48555739)_(48559231_48573289)del - heterozygous deletion of a probe upstream of NC exon 4 and all probes located within NC exon 4 - SMAD4_000136 ACMG PVS1, PM2 Journal: Calva 2011 - - Germline - - - - - Karl Heinimann
+/? 1 _1_1i c.(?_-538)_(-128+1_-127-1)del r.0? p.0? ACMG pathogenic g.(?_48556583)_(48556994_48573289)del - del promotor, 2 non-coding exons - SMAD4_000137 ACMG PVS1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - - - Karl Heinimann
+/?, ?/+ 2 _1_9i c.(?_-538)_(1139+1_1140-1)del r.0? p.0? ACMG pathogenic, VUS g.(?_48556583)_(48591977_48593388)del - del ex1-8, 1 more item - SMAD4_000138 ACMG PVS1, ACMG PVS1, PM2 Journal: Calva 2011, PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - - - Karl Heinimann
+/+, ?/+, ?/? 6 _1_12_ c.(?_-538)_(*6575_?)del r.0 p.0, p.0? ACMG pathogenic, VUS g.(?_48556583)_(48611412_?)del - complete gene deletion, del ex1-11, hemizygous deletion - SMAD4_000139 ACMG PVS1, ACMG PVS1, PM2, ACMG PVS1, PM2, PP3 Journal: Langeveld 2010, Journal: Soer 2015, Journal: Wain 2014, 1 more item - - Germline - - - - - Karl Heinimann
+/. 4 _1_12_ c.-358_*6575del r.0 p.0 - VUS g.(?_48556763)_(48611412_?)del, g.48556763_48611412del g.51030393_51085042del -17093-?_1659+?del, del. SMAD4 gene+promotor - SMAD4_000201 - - - - Germline - - - - - Benjamin Tschupp
-?/. 1 - c.-127-11_-127-10del r.(=) p.(=) - likely benign g.48573279_48573280del g.51046909_51046910del SMAD4(NM_005359.5):c.-127-11_-127-10delTT - SMAD4_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.-127-9C>T r.(=) p.(=) - likely benign g.48573281C>T g.51046911C>T SMAD4(NM_005359.5):c.-127-9C>T - SMAD4_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/., ?/. 2 - c.-127-2A>T r.spl? p.? - likely benign, VUS g.48573288A>T g.51046918A>T SMAD4(NM_005359.5):c.-127-2A>T (, p.(=)) - SMAD4_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.-127-2_-127del r.spl? p.? - likely benign g.48573288_48573290del g.51046918_51046920del SMAD4(NM_005359.5):c.-127-2_-127del (p.(=)) - SMAD4_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-127-1G>T r.spl? p.? - likely benign g.48573289G>T g.51046919G>T SMAD4(NM_005359.5):c.-127-1G>T (p.(=)) - SMAD4_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/? 1 _2_9i c.(?_-127-1)_(1139+1_1140-1)del r.0? p.0? ACMG VUS g.(?_48573289)_(48591977_48593388)del - deletion exons 1-8 - SMAD4_000140 ACMG PVS1 Journal: Soer 2015 - - Germline - - - - - Karl Heinimann
+/. 1 _2_3i c.(?_-1)_(424+1_425-1)del r.? p.? - VUS g.(?_48573416)_(48575231_48575664)del - del exon 1+2 - SMAD4_000202 - - - - Germline - - - - - Benjamin Tschupp
+/. 2 _2_9i c.(?_-1)_(1139+1_1140-1)del r.? p.? - VUS g.(?_48573416)_(48591977_48593388)del - del exon 1-8 - SMAD4_000203 - - - - Germline - - - - - Benjamin Tschupp
?/? 3 2 c.20C>T r.(?) p.(Thr7Met) - VUS g.48573436C>T g.51047066C>T 1244_1247delACAG + 20C>T, 20C>T / 1244_1247delACAG - SMAD4_000204 - - - - Germline - - - - - Benjamin Tschupp
-?/. 2 - c.21G>A r.(?) p.(Thr7=) - likely benign g.48573437G>A g.51047067G>A SMAD4(NM_005359.5):c.21G>A (p.T7=) - SMAD4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/?, ?/? 2 1, 2 c.38A>G r.(?) p.(Asn13Ser) ACMG pathogenic, VUS g.48573454A>G g.51047084A>G - - SMAD4_000004 rare variant found in a patient with pulmonary arterial hypertension; ACMG PM2, PP3 Journal: Nasim 2011, PubMed: Nasim 2011, ExPASy_066870, Journal: Nasim 2011 - - Germline - - - - - SIB - Livia Famiglietti, Benjamin Tschupp
-?/. 1 - c.150A>G r.(?) p.(Lys50=) - likely benign g.48573566A>G g.51047196A>G SMAD4(NM_005359.5):c.150A>G (p.K50=) - SMAD4_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 2 c.153del r.(?) p.(Asp52Metfs*6) - pathogenic (dominant) g.48573569del g.51047199del 153delA - SMAD4_000205 - Journal: Stoffel 2018 - - Germline - - - - - Benjamin Tschupp
+?/. 1 - c.153dup r.(?) p.Asp52Argfs*2 ACMG likely pathogenic g.48573569dup g.51047199dup - - SMAD4_000200 ACMG grading: PVS1,PM2 - - rs786203560 Germline - - - - - Andreas Laner
?/? 2 2 c.189_197del r.(?) p.(Asn64_Ala66del) ACMG VUS g.48573605_48573613del g.51047235_51047243del 189_197delAAATGGAGC - SMAD4_000141 ACMG PM2, PM4 PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000 - - Germline - - - - - Karl Heinimann
-?/. 3 - c.228A>G r.(?) p.(Arg76=) - likely benign g.48573644A>G g.51047274A>G SMAD4(NM_005359.5):c.228A>G (p.R76=) - SMAD4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.249+14G>A r.(=) p.(=) - likely benign g.48573679G>A g.51047309G>A SMAD4(NM_005359.5):c.249+14G>A - SMAD4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 2i c.249+24A>G r.(=) p.(=) - benign g.48573689A>G g.51047319A>G - - SMAD4_000010 VKGL data sharing initiative Nederland - - rs77389132 CLASSIFICATION record, Germline - up to 0.025 - - - Andreas Laner, VKGL-NL_Nijmegen
-?/. 1 - c.249+71A>G r.(=) p.(=) - likely benign g.48573736A>G - - - SMAD4_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.250-10A>G r.(=) p.(=) - likely benign g.48575046A>G g.51048676A>G SMAD4(NM_005359.5):c.250-10A>G - SMAD4_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 4 3 c.260_261del r.(?) p.(Arg87Glnfs*16) - pathogenic (dominant) g.48575066_48575067del g.51048696_51048697del 260_261delGG - SMAD4_000206 - - - - Germline - - - - - Benjamin Tschupp
+/+ 6 3 c.263_267del r.(?) p.(Lys88Ilefs*14) ACMG pathogenic g.48575069_48575073del g.51048699_51048703del 263-267delAAGGA - SMAD4_000142 ACMG PVS1, PM4, PM2, PP3 Journal: Wain 2014 - - Germline - - - - - Karl Heinimann
-?/. 1 - c.294C>T r.(?) p.(Leu98=) - likely benign g.48575100C>T g.51048730C>T SMAD4(NM_005359.5):c.294C>T (p.L98=) - SMAD4_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/? 1 3 c.302G>A r.(?) p.(Trp101*) ACMG pathogenic g.48575108G>A g.51048738G>A 302G>A | W101X - SMAD4_000077 ACMG PM2, PM4, PP3 PubMed: Gallione 2010, Journal: Gallione 2010 - rs377767323 Germline - - - - - Global Variome, with Curator vacancy
-/., -?/. 5 - c.354G>A r.(?) p.(Ala118=) - benign, likely benign g.48575160G>A g.51048790G>A SMAD4(NM_005359.5):c.354G>A (p.A118=) - SMAD4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
+/+ 1 3 c.373_374insAT r.(?) p.(Ser125Asnfs*5) ACMG pathogenic g.48575179_48575180insAT g.51048809_51048810insAT 373_4insAT - SMAD4_000062 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - rs377767324 Germline - - - - - Global Variome, with Curator vacancy
+/+, ?/+ 2 3 c.375_381dup r.(?) p.(Val128Cysfs*17) ACMG pathogenic, VUS g.48575181_48575187dup g.51048811_51048817dup 375dup7, 375_381dupTGTCTGT - SMAD4_000037 ACMG PVS1, PM2, PM4, PP3 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
?/., ?/? 2 3, 4 c.380G>T r.(?) p.(Cys127Phe) - VUS g.48575186G>T g.51048816G>T - - SMAD4_000009 - - - - Germline - - - - - Christopher Watson, Benjamin Tschupp
?/. 1 - c.400G>A r.(?) p.(Glu134Lys) - VUS g.48575206G>A g.51048836G>A SMAD4(NM_005359.5):c.400G>A (p.E134K) - SMAD4_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+, +/. 6 2, 3 c.403C>T r.(?) p.(Arg135*), p.(Arg135Ter) ACMG pathogenic, pathogenic (dominant) g.48575209C>T g.51048839C>T 403C>T | R135X, SMAD4(NM_005359.5):c.403C>T (p.R135*) - SMAD4_000038 ACMG PVS1, PM2, PM4, PP3, VKGL data sharing initiative Nederland PubMed: Aretz 2007, PubMed: Pyatt 2006, Journal: Pyatt 2006 - rs377767326 CLASSIFICATION record, Germline - - - - - Global Variome, with Curator vacancy, Johan den Dunnen, Benjamin Tschupp, VKGL-NL_Rotterdam
+/+, ?/+ 2 2i, 3i c.424+1G>A r.spl p.? ACMG pathogenic, VUS g.48575231G>A g.51048861G>A - - SMAD4_000129 ACMG PVS1, PM2, PP3, PP5 Journal: Alberici 2008, PubMed: Woodford-Richens 2001, Journal: Woodford-Richens 2001 - rs377767386 Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
-/?, -?/., ?/. 5 3i c.424+5G>A r.(?), r.spl? p.? ACMG benign, likely benign, VUS g.48575235G>A g.51048865G>A SMAD4(NM_005359.5):c.424+5G>A - SMAD4_000127 ;ACMG PP3, BP6, VKGL data sharing initiative Nederland, 1 more item Journal: Jelsig 2016 - rs200772603 CLASSIFICATION record, Germline - - - - - Karl Heinimann, InSiGHT - John-Paul Plazzer, Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.424+19C>A r.(=) p.(=) - benign g.48575249C>A g.51048879C>A - - SMAD4_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, ?/. 2 3i c.425-6A>G r.spl? p.(=) ACMG pathogenic, VUS g.48575659A>G g.51049289A>G - - SMAD4_000128, SMAD4_000131 1 more item PubMed: Aretz 2007 - rs377767327 Germline - - - - - Global Variome, with Curator vacancy, Andreas Laner
+/+, ?/+ 5 4 c.430_431del r.(?) p.(Ser144Argfs*7) ACMG pathogenic, VUS g.48575670_48575671del g.51049300_51049301del 320-431delTC, 426_427delTC, 430-431delTC - SMAD4_000039 ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013, Journal: O'Malley 2011, Journal: Pearlman 2016, 1 more item - - Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
+/+ 2 2, 4 c.437T>A r.(?) p.(Leu146*) - pathogenic, pathogenic (dominant) g.48575677T>A g.51049307T>A - - SMAD4_000040 - PubMed: Aretz 2007 - - Germline - - - - - Global Variome, with Curator vacancy, Benjamin Tschupp
+/. 1 - c.452dup r.(?) p.(Asn151LysfsTer11) - pathogenic g.48575692dup g.51049322dup SMAD4(NM_005359.5):c.452dupA (p.N151Kfs*11) - SMAD4_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.454+54T>G r.(=) p.(=) - benign g.48575748T>G g.51049378T>G - - SMAD4_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.454+2088G>C r.(=) p.(=) - benign g.48577782G>C g.51051412G>C SMAD4(NM_005359.5):c.454+2088G>C - SMAD4_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.455-8C>T r.(=) p.(=) - likely benign g.48581143C>T g.51054773C>T SMAD4(NM_005359.5):c.455-8C>T (p.(=)) - SMAD4_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.455-6A>G r.(=) p.(=) - benign g.48581145A>G g.51054775A>G SMAD4(NM_005359.5):c.455-6A>G - SMAD4_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 4i_12_ c.(454+1_455-1)_*6575del r.(?) p.(?) - VUS g.(48575695_48581150)_(48611412_?)del - del exon 5-12 - SMAD4_000207 - - - - Germline - - - - - Benjamin Tschupp
./. 1 - c.457C>T r.(?) p.(Pro153Ser) - VUS g.48581153C>T g.51054783C>T - - SMAD4_000087 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.466A>T r.(?) p.(Met156Leu) - VUS g.48581162A>T g.51054792A>T - - SMAD4_000088 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/+, ?/+ 8 2, 5 c.517_527del r.(?) p.(Ser173Thrfs*12) ACMG pathogenic (dominant), VUS g.48581213_48581223del g.51054843_51054853del 517_527del11, 517_527delTCCACTGAAGG - SMAD4_000041 ACMG PVS1, PM2, PM4, PP3 PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000 - - Germline - - - - - Global Variome, with Curator vacancy, Benjamin Tschupp
+/+, +/? 4 5 c.533C>G r.(?) p.(Ser178*) ACMG pathogenic, pathogenic (dominant) g.48581229C>G g.51054859C>G 661C>G - SMAD4_000042 ACMG PM2, PP3 PubMed: Roth 1999 - - Germline - - - - - Global Variome, with Curator vacancy, Benjamin Tschupp
+/+ 1 2 c.538C>T r.(?) p.(Gln180*) - pathogenic g.48581234C>T g.51054864C>T 538C>T | Q180X - SMAD4_000043 - PubMed: Woodford-Richens 2001, Journal: Woodford-Richens 2001 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 5 c.543C>G r.(?) p.(=) - VUS g.48581239C>G g.51054869C>G - - SMAD4_000208 - - - - Germline - - - - - Benjamin Tschupp
?/? 1 5 c.543C>T r.(?) p.Thr181= - VUS g.48581239C>T g.51054869C>T 1081C>T - SMAD4_000209 - PubMed: Szigeti 2012 - - Germline - - - - - Benjamin Tschupp
+/+, ?/+ 11 5 c.543del r.(?) p.(Ile182Serfs*20) ACMG pathogenic (dominant), VUS g.48581239del g.51054869del 543delC, 543_543delC - SMAD4_000143 ACMG PVS1, PM2, PP3 Journal: Schwetz 2012 - - Germline - - - - - Karl Heinimann, Benjamin Tschupp
?/? 1 5 c.554C>A r.(?) p.(Pro185Gln) ACMG VUS g.48581250C>A g.51054880C>A 554C>A - SMAD4_000144 ACMG PM2, PP3 Journal: Pearlman 2016 - - Germline - - - - - Karl Heinimann
-?/., ./. 3 - c.565C>T r.(?) p.(Arg189Cys) - likely benign, VUS g.48581261C>T g.51054891C>T SMAD4(NM_005359.5):c.565C>T (p.R189C) - SMAD4_000083 VKGL data sharing initiative Nederland Thibodeau lab (Mayo Clinic) - - CLASSIFICATION record, Germline - - - - - Melissa DeRycke, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.566G>A r.(?) p.(Arg189His) - likely benign g.48581262G>A g.51054892G>A SMAD4(NM_005359.5):c.566G>A (p.R189H) - SMAD4_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 5 c.576dup r.(?) p.(Glu193Argfs*13) - pathogenic (dominant) g.48581272dup g.51054902dup 576_577insA - SMAD4_000210 - - - - Germline - - - - - Benjamin Tschupp
+/+, ?/+ 6 5 c.608del r.(?) p.(Pro203Hisfs*38) ACMG pathogenic, VUS g.48581304del g.51054934del 608delC, 608delC (P203HfsX) - SMAD4_000044 ACMG PM2, PM4, PP3, PVS1, ACMG PVS1, PM2, PM4, PP3 Journal: Carr 2012, Journal: Howe 2004, Journal: Howe 2004, PubMed: Sayed 2002, Journal: Sayed 2002, 1 more item - - Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
-?/. 1 - c.651T>A r.(?) p.(Ile217=) - likely benign g.48581347T>A - - - SMAD4_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.667+12A>T r.(=) p.(=) - likely benign g.48581375A>T g.51055005A>T SMAD4(NM_005359.5):c.667+12A>T - SMAD4_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 5i_12_ c.(667+1_668-1)_(*6575_?)del r.? p.? - pathogenic (dominant) g.(48581364_48584494)_(48611412 _?)del - 668‐?_1659+?del - SMAD4_000134 - PubMed: Aretz 2007 - - Germline - - - - - Johan den Dunnen
-?/., ?/? 2 6 c.677C>T r.(?) p.(Ala226Val) ACMG likely benign, VUS g.48584504C>T g.51058134C>T - - SMAD4_000145 ACMG PP3, VKGL data sharing initiative Nederland Journal: Pearlman 2016 - - CLASSIFICATION record, Germline - - - - - Karl Heinimann, VKGL-NL_Nijmegen
+/+, +/., +/? 6 6 c.692dup r.(?) p.(Ser232Glnfs*3) ACMG pathogenic, pathogenic (dominant) g.48584519dup g.51058149dup 691-692insG, 692dupG, 692insG, 815-820(687insG), 820dupG - SMAD4_000015 ACMG PM2, PM4, PP3, ACMG PS1, PM2, PM6, ACMG PVS1, PM2, PM4, PP3, not in 214 control chromosomes Journal: Jelsig 2015, PubMed: Gallione 2010, Journal: Gallione 2010, 2 more items - - De novo, Germline, Unknown - - - - - Johan den Dunnen, Karl Heinimann, Benjamin Tschupp
?/+ 2 6 c.728_735del r.(?) p.(Gly243Alafs*18) ACMG VUS g.48584555_48584562del g.51058185_51058192del 724_731delTCAGGGCC - SMAD4_000146 ACMG PM2, PS1, PP1, PP3 Journal: Schwenter 2012 - - Germline - - - - - Karl Heinimann
+/+ 1 6 c.731_732insGCCC r.(?) p.(Gln245Profs*20) ACMG pathogenic g.48584558_48584559insGCCC g.51058188_51058189insGCCC 729-730insCCGC - SMAD4_000045 ACMG PVS1, PM2, PM4, PP3 PubMed: Pyatt 2006, Journal: Pyatt 2006 - rs377767335 Germline - - - - - Global Variome, with Curator vacancy
+/+, ?/+ 2 6 c.745C>T r.(?) p.(Gln249*) ACMG pathogenic (dominant), VUS g.48584572C>T g.51058202C>T - - SMAD4_000147 ACMG PVS1, PM2, PM4, PP3 Journal: Pantelis 2016 - - Germline - - - - - Karl Heinimann, Benjamin Tschupp
?/+ 1 6 c.746_747delinsCC r.(?) p.(Gln249Pro) ACMG VUS g.48584573_48584574delinsCC g.51058203_51058204delinsCC 746_747AG>CC - SMAD4_000148 ACMG PM2, PS1, PP5, PP3 Journal: Schwenter 2012 - rs587782209 Germline - - - - - Karl Heinimann
+/+ 1 6 c.759del r.(?) p.(Phe253Leufs*83) ACMG pathogenic g.48584586del g.51058216del 759delT - SMAD4_000149 ACMG PVS1, PM4, PM2, PP3 Journal: Wain 2014 - - Germline - - - - - Karl Heinimann
+/. 1 6i_12_ c.(787+1_788-1)_(*6575_?)del r.? p.? - pathogenic (dominant) g.(48584615_48584709)_(48611412 _?)del - 788‐?_1659+?del - SMAD4_000135 - PubMed: Aretz 2007 - - Germline - - - - - Johan den Dunnen
?/+ 1 7 c.798del r.(?) p.(Thr267Profs*69) ACMG VUS g.48584720del g.51058350del 798delC - SMAD4_000150 ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013 - - Germline - - - - - Karl Heinimann
?/+ 1 6i_9i c.(787+1_830)_(1139+1_1140-1)del r.? p.? ACMG VUS g.(48584615_48584752)_(48591977_48593388)del - 830-?_1139+?del - SMAD4_000151 ACMG PVS1, PM2 Journal: Ngeow 2013 - - Germline - - - - - Karl Heinimann
+/+, +/. 2 3, 6 c.831_832del r.(?) p.(Pro278*) - pathogenic (dominant) g.48584753_48584754del g.51058383_51058384del 831_832delAC, 959–960delAC - SMAD4_000046 - PubMed: Aretz 2007, PubMed: Friedl 1999, PubMed: Friedl 2002 - - Germline - - - - - Global Variome, with Curator vacancy, Johan den Dunnen
?/. 1 - c.872A>C r.(?) p.(His291Pro) - VUS g.48584794A>C g.51058424A>C SMAD4(NM_005359.5):c.872A>C (p.H291P) - SMAD4_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.880A>G r.(?) p.(Met294Val) - likely benign g.48584802A>G g.51058432A>G SMAD4(NM_005359.5):c.880A>G (p.M294V) - SMAD4_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/+ 1 7 c.902dup r.(?) p.(Tyr301*) ACMG VUS g.48584824dup g.51058454dup 902_903insA - SMAD4_000152 ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013 - - Germline - - - - - Karl Heinimann
-?/. 2 - c.904+11G>A r.(=) p.(=) - likely benign g.48584837G>A g.51058467G>A SMAD4(NM_005359.5):c.904+11G>A - SMAD4_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
?/. 1 - c.904+14T>C r.(=) p.(=) - VUS g.48584840T>C g.51058470T>C SMAD4(NM_005359.5):c.904+14T>C - SMAD4_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.904+216C>T r.(=) p.(=) - likely benign g.48585042C>T g.51058672C>T SMAD4(NM_005359.5):c.904+216C>T - SMAD4_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 7i c.905-199_905-196del r.(=) p.(=) - benign g.48586037_48586040del g.51059667_51059670del - - SMAD4_000011 - - - rs71880423 Germline - - - - - Andreas Laner
-?/. 1 - c.905-91A>G r.(=) p.(=) - likely benign g.48586145A>G g.51059775A>G - - SMAD4_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.905-75T>C r.(=) p.(=) - likely benign g.48586161T>C g.51059791T>C - - SMAD4_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.905-52A>G r.(=) p.(=) - benign g.48586184A>G g.51059814A>G - - SMAD4_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.905-3T>C r.spl? p.? - likely benign g.48586233T>C g.51059863T>C SMAD4(NM_005359.5):c.905-3T>C - SMAD4_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.909T>G r.(?) p.(Pro303=) - likely benign g.48586240T>G g.51059870T>G SMAD4(NM_005359.5):c.909T>G (p.P303=) - SMAD4_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 8 c.925_928dup r.(?) p.(Phe310Cysfs*13) ACMG pathogenic g.48586256_48586259dup g.51059886_51059889dup 925-928dupGCAT - SMAD4_000047 ACMG PVS1, PM2, PM4, PP3 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - Germline - - - - - Global Variome, with Curator vacancy
?/. 1 - c.926C>T r.(?) p.(Ala309Val) - VUS g.48586257C>T g.51059887C>T SMAD4(NM_005359.5):c.926C>T (p.A309V) - SMAD4_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/+ 1 8 c.939del r.(?) p.(Ile314Phefs*22) ACMG VUS g.48586270del g.51059900del 939delC - SMAD4_000153 ACMG PVS1, PM2, PM4, PP3 Journal: Torring 2013 - - Germline - - - - - Karl Heinimann
?/. 1 - c.947A>G r.(?) p.(Asn316Ser) - VUS g.48586278A>G g.51059908A>G SMAD4(NM_005359.5):c.947A>G (p.N316S) - SMAD4_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.955+18T>C r.(=) p.(=) - likely benign g.48586304T>C g.51059934T>C SMAD4(NM_005359.5):c.955+18T>C - SMAD4_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.955+58C>T r.(=) p.(=) - benign g.48586344C>T g.51059974C>T - - SMAD4_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.956-16C>T r.(=) p.(=) - likely benign g.48591777C>T g.51065407C>T SMAD4(NM_005359.5):c.956-16C>T - SMAD4_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/? 2 8i_9i c.(955+1_956-1)_(1139+1_1140-1)dup r.? p.? ACMG VUS g.(48586287_48591792)_(48591977_48593388)dup - dup ex8 - SMAD4_000154 ACMG PVS1 Journal: O'Malley 2011 - - Germline - - - - - Karl Heinimann
+/?, ?/? 3 9 c.970T>C r.(?) p.(Cys324Arg) ACMG pathogenic, VUS g.48591807T>C g.51065437T>C - - SMAD4_000048 ACMG PM2, PP3 Journal: Langeveld 2010, PubMed: van Hattem 2008, Journal: van Hattem 2007 - rs377767339 Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
+/+, ?/+ 2 9 c.971del r.(?) p.(Cys324Phefs*12) ACMG pathogenic, VUS g.48591808del g.51065438del 971delG - SMAD4_000016 ACMG PP3, PM2, PVS1, PM4, ACMG PVS1, PM2, PM4, PP3 Journal: Langeveld 2010, PubMed: van Hattem 2008, Journal: van Hattem 2007 - rs377767340 Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
+/+ 1 9 c.982dup r.(?) p.(Tyr328Leufs*3) ACMG pathogenic g.48591819dup g.51065449dup 982-983insT - SMAD4_000017 ACMG PVS1, PM2, PM4, PP3 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - Germline - - - - - Global Variome, with Curator vacancy
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »