Full data view for gene SMAD4

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

95 entries on 1 page. Showing entries 1 - 95.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Parent #1 - pathogenic g.48593494_48593497del g.51067124_51067127del - - SMAD4_000012 - - - - Germline - - - - - DNA SEQ - - JPS - - - - - Germany - - - - - 1 Andreas Laner
+/. 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Parent #1 - pathogenic g.48593494_48593497del g.51067124_51067127del 1372_1375del - SMAD4_000012 not in 484 control chromosomes PubMed: Howe 1998, Journal: Howe 1998, OMIM:var0005 - - Germline yes - - - - DNA DGGE, SEQ, SSCA - - JPS - PubMed: Howe 1998, Journal: Howe 1998 5-generation family, 13 affected, 4 unaffected at-risk carriers - no United States white, Iowa - - - - 13 Johan den Dunnen
+/. 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Parent #1 - pathogenic g.48593494_48593497del g.51067124_51067127del 1372_1375del - SMAD4_000012 not in 484 control chromosomes PubMed: Howe 1998, Journal: Howe 1998, OMIM:var0005 - - Germline yes - - - - DNA DGGE, SEQ, SSCA - - JPS - PubMed: Howe 1998, Journal: Howe 1998 family - no United States white, Mississipi - - - - 13 Johan den Dunnen
+/. 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Parent #1 - pathogenic g.48593494_48593497del g.51067124_51067127del 1372_1375del - SMAD4_000012 not in 484 control PubMed: Howe 1998, Journal: Howe 1998, OMIM:var0005 - - Germline yes - - - - DNA DGGE, SEQ, SSCA - - JPS - PubMed: Howe 1998, Journal: Howe 1998 family - no Finland white - - - - 13 Johan den Dunnen
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic g.48593494_48593497del g.51067124_51067127del 1244delAGAC - SMAD4_000012 - PubMed: Sayed 2002, Journal: Sayed 2002 - - Germline - - - - - DNA SEQ - - JPS JP2 PubMed: Sayed 2002, Journal: Sayed 2002 - - - United States - - - - - 1 Johan den Dunnen
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic g.48593494_48593497del g.51067124_51067127del 1244delAGAC - SMAD4_000012 - PubMed: Sayed 2002, Journal: Sayed 2002 - - Germline - - - - - DNA SEQ - - JPS JP3 PubMed: Sayed 2002 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1245_1248del r.(?) p.Asp415Glufs*20 Unknown - pathogenic g.48593494_48593497del g.51067124_51067127del - - SMAD4_000012 disruptive variant PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA SEQ - CRC 10 gene panel JPS 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1372-1375del - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 PubMed: Roth 1999 - - Germline - - - - - DNA SEQ - screening JPS Fam 3/patient 1 PubMed: Roth 1999 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1372-1375del - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 PubMed: Roth 1999 - - Germline - - - - - DNA SEQ - screening JPS Fam 3/patient 2 PubMed: Roth 1999 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1372-1375del - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 PubMed: Roth 1999 - - Germline - - - - - DNA SEQ - screening JPS Fam 3/patient 3 PubMed: Roth 1999 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1372-1375del - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 PubMed: Roth 1999 - - Germline - - - - - DNA SEQ - screening JPS Fam 3/patient 4 PubMed: Roth 1999 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1372-1375del - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 PubMed: Roth 1999 - - Germline - - - - - DNA SEQ - screening JPS Fam 3/patient 5 PubMed: Roth 1999 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1372_1375del - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: Piepoli 2012 - - Germline - - - - - DNA SEQ - screening JPS III-1B Journal: Piepoli 2012 - F - (Italy) (European) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1372_1375del - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: Piepoli 2012 - - Germline - - - - - DNA SEQ - screening JPS IV1-1 Journal: Piepoli 2012 - M - (Italy) (European) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1372_1375del - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: Piepoli 2012 - - Germline - - - - - DNA SEQ - screening JPS IV-2 Journal: Piepoli 2012 - F - (Italy) (European) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1242_45delAGAC - SMAD4_000012 ACMG PS1, PM2, PM4, PP3 PubMed: Gallione 2010, Journal: Gallione 2010 - rs80338965 Germline - - - - - DNA PCR, SEQ - screening JPHT 4291 PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244_7delACAG - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3, PP5 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - - - DNA PCR, SEQ - screening JPS JP93-1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244_7delACAG - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3, PP5 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - - - DNA PCR, SEQ - screening JPS JP94-1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-1 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-10 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-11 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-12 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-13 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-14 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-15 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-16 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-17 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-2 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-3 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-4 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-5 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-6 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-7 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-8 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP1-9 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP2-1 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP3-1 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP3-2 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP3-3 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP3-4 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 - - - Germline - - - - - DNA PCR, SEQ - - JPS JP3-5 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 - - - Germline - - - - - DNA PCR, SEQ - - JPS JP3-6 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 - - - Germline - - - - - DNA PCR, SEQ - - JPS JP4-1 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 - - - Germline - - - - - DNA PCR, SEQ - - JPS JP4-2 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244delACAG - SMAD4_000012 ACMG PVS1, PS4, PM2, PM4, PP3 Journal: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP4-3 Journal: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1245_1248delCAGA - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 PubMed: Pintiliciuc 2008, Journal: Pintiliciuc 2008 - - Germline - - - - - DNA SEQ - screening JPS Patient 2 PubMed: Pintiliciuc 2008, Journal: Pintiliciuc 2008 - F - (France) (European) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1245delCAGA - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - Germline - - - - - DNA PCR, SEQ - screening JPS 4555 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) (European) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1244_47delACAG - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: Carr 2012 - - Germline - - - - - DNA SEQ - - JPS 5 Journal: Carr 2012 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244_45delACAG - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 1999, Journal: Howe 1999 - - Germline - - - - - DNA PCR, SSCA - test for known variant JPS 10 PubMed: Howe 1999, Journal: Howe 1999 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244_45delACAG - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 1999, Journal: Howe 1999 - - Germline - - - - - DNA PCR, SSCA - test for known variant JPS 14 PubMed: Howe 1999, Journal: Howe 1999 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244_45delACAG - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 1999, Journal: Howe 1999 - - Germline - - - - - DNA PCR, SSCA - test for known variant JPS 24 PubMed: Howe 1999, Journal: Howe 1999 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244_45delACAG - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 1999, Journal: Howe 1999 - - Germline - - - - - DNA PCR, SSCA - test for known variant JPS 25 PubMed: Howe 1999, Journal: Howe 1999 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1244_45delACAG - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 1999, Journal: Howe 1999 - - Germline - - - - - DNA PCR, SSCA - test for known variant JPS 28 PubMed: Howe 1999, Journal: Howe 1999 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1245_1248delCAGA - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013 - - Germline - - - - - DNA SEQ - screening polyposis 6162 Journal: Ngeow 2013 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1245_1248delCAGA - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013 - - Germline - - - - - DNA SEQ - screening polyposis 6329 Journal: Ngeow 2013 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1245_1248delCAGA - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013 - - Germline - - - - - DNA SEQ - screening polyposis 7154 Journal: Ngeow 2013 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1245_1248delCAGA - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013 - - Germline - - - - - DNA SEQ - screening polyposis 7683 Journal: Ngeow 2013 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1245_1248delCAGA - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013 - - Germline - - - - - DNA SEQ - screening polyposis 7722 Journal: Ngeow 2013 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1245-1248delCAGA - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: O'Malley 2011 - - Germline - - - - - DNA SEQ - - JPS A1 Journal: O'Malley 2011 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1245-1248delCAGA - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: O'Malley 2011 - - Germline - - - - - DNA SEQ - - HHT B1 Journal: O'Malley 2011 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1245-1248delCAGA - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: O'Malley 2011 - - Germline - - - - - DNA SEQ - - HHT B2 Journal: O'Malley 2011 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1245-1248delCAGA - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: O'Malley 2011 - - Germline - - - - - DNA SEQ - - HHT B3 Journal: O'Malley 2011 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1245-1248delCAGA - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: O'Malley 2011 - - Germline - - - - - DNA SEQ - - HHT C1 Journal: O'Malley 2011 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1245-1248delCAGA - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: O'Malley 2011 - - Germline - - - - - DNA SEQ - - HHT D1 Journal: O'Malley 2011 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1245-1248delCAGA - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: O'Malley 2011 - - Germline - - - - - DNA SEQ - - HHT D2 Journal: O'Malley 2011 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1245-1248delCAGA - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: O'Malley 2011 - - Germline - - - - - DNA SEQ - - HHT D3 Journal: O'Malley 2011 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG VUS g.48593494_48593497del g.51067124_51067127del 1245_1248delCAGA - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 Journal: Sumitomo 2013 - - Germline - - - - - DNA SEQ - screening HHT patient Journal: Sumitomo 2013 - M - (Japan) (Asian) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1242_1245delACAG - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - Germline - - - - - DNA SEQ - screening JPS case 10 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) (American) - - - - 1 Karl Heinimann
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown ACMG pathogenic g.48593494_48593497del g.51067124_51067127del 1242_1245delACAG - SMAD4_000012 ACMG PVS1, PM2, PM4, PP3 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - Germline - - - - - DNA SEQ - screening JPS case 9 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) (American) - - - - 1 Karl Heinimann
+/. 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Paternal (confirmed) - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1372-1375delACAG - SMAD4_000012 - PubMed: Friedl 1999, PubMed: Friedl 2002 - - Germline - - - - - DNA SEQ - - JPS 10398437-FJP-12/12136244-JUV-12 PubMed: Friedl 1999, PubMed: Friedl 2002 - F - Germany - - - - - 1 Johan den Dunnen
+/. 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1372-1375delACAG - SMAD4_000012 - PubMed: Friedl 1999, PubMed: Friedl 2002 - - Germline - - - - - DNA SEQ - - JPS 10398437-FFJP-4/12136244-JUV-4 PubMed: Friedl 1999, PubMed: Friedl 2002 - F - Germany - - - - - 1 Johan den Dunnen
+/. 9 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1245_1248delCAGA - SMAD4_000012 - PubMed: Aretz 2007 - - Germline - - - - - DNA SEQ, MLPA - target gene panel (SMAD4, BMPR1A, PTEN, CDH1) JPS 17873119-Pat4 PubMed: Aretz 2007 - - - - Germany - - - - 1 Johan den Dunnen
+/. 9 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1245_1248delCAGA - SMAD4_000012 - PubMed: Aretz 2007 - - Germline - - - - - DNA SEQ, MLPA - target gene panel (SMAD4, BMPR1A, PTEN, CDH1) JPS 17873119-Pat12 PubMed: Aretz 2007 - - - - Germany - - - - 1 Johan den Dunnen
+/. 9 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1245_1248delCAGA - SMAD4_000012 - PubMed: Aretz 2007 - - Germline - - - - - DNA SEQ, MLPA - target gene panel (SMAD4, BMPR1A, PTEN, CDH1) JPS 17873119-Pat55 PubMed: Aretz 2007 - - - - Germany - - - - 1 Johan den Dunnen
+/. 9 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1245_1248delCAGA - SMAD4_000012 - PubMed: Aretz 2007 - - Germline - - - - - DNA SEQ, MLPA - target gene panel (SMAD4, BMPR1A, PTEN, CDH1) JPS 17873119-Pat77 PubMed: Aretz 2007 - - - - Germany - - - - 1 Johan den Dunnen
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1244_1247delACAG - SMAD4_000012 - - - - Germline - - - - - DNA SEQ - - JPS - - - - - - - - - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1244_1247delACAG - SMAD4_000012 - - - - Germline - - - - - DNA SEQ - - JPS - - - - - - - - - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1244_1247delACAG - SMAD4_000012 - - - - Germline - - - - - DNA SEQ - - JPS - - - M - - - - - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1244_1247delACAG - SMAD4_000012 - - - - Germline - - - - - DNA SEQ - - JPS - - - M - - - - - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1244_1247delACAG - SMAD4_000012 - - - - Germline - - - - - DNA SEQ - - JPS - - - M - - - - - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1244_1247delACAG - SMAD4_000012 - - - - Germline - - - - - DNA SEQ - - JPS - - - F - - - 84y - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1244_1247delACAG - SMAD4_000012 - - - - Germline - - - - - DNA SEQ - - JPS - - - F - - - 38y - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1244_1247delACAG - SMAD4_000012 - - - - Germline - - - - - DNA SEQ - screening JPS - - - M - - - 52y - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1244_1247delACAG - SMAD4_000012 - - - - Germline - - - - - DNA SEQ - - JPS - - - F - - - 41y - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1244_1247delACAG - SMAD4_000012 - Journal: Burmester 2016 - - Germline - - - - - DNA PCR, SEQ - - ? 1 Journal: Burmester 2016 - M - (United States) (american) - - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1244_1247delACAG - SMAD4_000012 - Journal: Burmester 2016 - - Germline - - - - - DNA PCR, SEQ - - ? 2 Journal: Burmester 2016 - M - (United States) (american) - - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1244_1247delACAG - SMAD4_000012 - Journal: Burmester 2016 - - Germline - - - - - DNA PCR, SEQ - - ? 3 Journal: Burmester 2016 - M - (United States) (american) - - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1244_1247delACAG - SMAD4_000012 - Journal: Burmester 2016 - - Germline - - - - - DNA PCR, SEQ - - JPS 9 Journal: Burmester 2016 - F - (United States) (american) - - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1244_1247delACAG - SMAD4_000012 - Journal: Burmester 2016 - - Germline - - - - - DNA PCR, SEQ - - JPS 11 Journal: Burmester 2016 - F - (United States) (american) - - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1245-1248delCAGT - SMAD4_000012 - Journal: Stoffel 2018 - - Germline - - - - - DNA SEQ-NG - screening ? UM case #1 Journal: Stoffel 2018 - F - (United States) (american) - - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1245_1248delCAGA - SMAD4_000012 - Journal: Teekakirikul 2012 - rs80338965 Germline - - - - - DNA SEQ - screening JPHT Patient 2 Journal: Teekakirikul 2012 - F - (United States) white - - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Parent #1 - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 20C>T / 1244_1247delACAG - SMAD4_000012 - - - - Germline - - - - - DNA SEQ - screening JPS - - - M - - - - - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Parent #1 - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 20C>T / 1244_1247delACAG - SMAD4_000012 - - - - Germline - - - - - DNA SEQ - - JPS - - - M - - - - - - - 1 Benjamin Tschupp
+/+ 10 c.1245_1248del r.(?) p.(Asp415Glufs*20) Parent #1 - pathogenic (dominant) g.48593494_48593497del g.51067124_51067127del 1244_1247delACAG + 20C>T - SMAD4_000012 - - - - Germline - - - - - DNA SEQ - - JPS - - - - - - - - - - - 1 Benjamin Tschupp
+/. - c.1245_1248del r.(?) p.(Asp415Glufs*20) Unknown - pathogenic g.48593494_48593497del - SMAD4(NM_005359.5):c.1242_1245del (p.(Asp415Glufs*20)) - SMAD4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.