Full data view for gene SMAD3

This gene is part of the Globin Gene Server databases.
Information The variants shown are described using the NM_005902.3 transcript reference sequence.

251 entries on 3 pages. Showing entries 1 - 100.
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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     
+/. 1i_9_ c.(206+1_207-48991)_*4656{0} r.0 p.0 Parent #1 ACMG pathogenic g.(?_67408242)_(67603013_?)del - del ex2-9 - SMAD3_000097 ACMG PVS1, PP3, PM2 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_9_ c.-298_*4656{0} r.0 p.0 Parent #1 ACMG pathogenic g.(?_67358195)_(67487530_?)del g.(?_67065857)_(67195192_?)del del entire gene - SMAD3_000099 ACMG PM2, PVS1, PP3 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-23C>T r.(?) p.(=) Unknown - benign g.67358470C>T g.67066132C>T SMAD3(NM_005902.3):c.-23C>T - SMAD3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-15G>A r.(?) p.(=) Unknown - benign g.67358478G>A g.67066140G>A SMAD3(NM_005902.3):c.-15G>A - SMAD3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_9_ c.(206+1_207-48991)_*4656{0} r.0? p.0? Parent #1 - pathogenic (!) g.(?_67408242)_(67603013_?)del g.(?_67115904)_(67310675_?)del hg18 65195296-65390067del - SMAD3_000097 reduced penetrance; includes genes SMAD3, AC012568.7, IQCH PubMed: Hilhorst-Hofstee 2013 - - Germline yes - - - - DNA arraySNP - - TAAD family PubMed: Hilhorst-Hofstee 2013 3-generation family, 4 affected (F, 3M), 4 deletion carriers (2F, 2M) F;M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.(?_207-48991)_*4656{0} r.0? p.0? Paternal (confirmed) other pathogenic g.(?_67408242)_(67603013_?)del - Ensembl54-liftover-hg19 - SMAD3_000097 - - - - Germline yes - - - - DNA arrayCNV - - TAAD - - - M - Netherlands - - - - - 1 Jasper Saris
+?/. - c.1A>T r.(?) p.(Met1?) Unknown - likely pathogenic g.67358493A>T g.67066155A>T SMAD3(NM_005902.4):c.1A>T (p.M1?) - SMAD3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1A>T r.(?) p.(Met1?) Parent #1 - likely pathogenic g.67358493A>T g.67066155A>T - - SMAD3_000047 - PubMed: Overwater 2018 - - Germline - 9/128 cases FA - - - DNA SEQ, SEQ-NG - gene panel ? Pat42 PubMed: Overwater 2018 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.2T>C r.(?) p.(Met1?) Parent #1 ACMG pathogenic g.67358494T>C g.67066156T>C Met1Thr - SMAD3_000100 ACMG PM2, PVS1, PP2 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3G>A r.(?) p.(Met1?) Parent #1 ACMG pathogenic g.67358495G>A g.67066157G>A Met1Ile - SMAD3_000101 ACMG PM2, PVS1, PP2 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.7T>A r.(?) p.(Ser3Thr) Parent #1 - VUS g.67358499T>A g.67066161T>A - - SMAD3_000006 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
-?/. - c.9C>T r.(?) p.(Ser3=) Unknown - likely benign g.67358501C>T g.67066163C>T SMAD3(NM_005902.4):c.9C>T (p.S3=) - SMAD3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.52_63del r.(?) p.(Trp18_Gly21del) Unknown - VUS g.67358544_67358555del g.67066206_67066217del SMAD3(NM_005902.3):c.52_63delTGGAAGAAGGGC (p.W18_G21del) - SMAD3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.61G>T r.(?) p.(Gly21Cys) Unknown - VUS g.67358553G>T g.67066215G>T SMAD3(NM_005902.3):c.61G>T (p.G21C) - SMAD3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.66G>A r.(?) p.(=) Unknown - benign g.67358558G>A - SMAD3(NM_005902.4):c.66G>A (p.E22=) - SMAD3_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.76C>T r.(?) p.(Gln26*) Maternal (confirmed) ACMG pathogenic (dominant) g.67358568C>T g.67066230C>T - - SMAD3_000096 - submitted - - Germline - - - - - DNA SEQ - - TAAD - - - - - - - - - - - 1 Jasper Saris
./. - c.101C>T r.(?) p.(Ala34Val) Unknown - likely pathogenic g.67358593C>T g.67066255C>T NM_005902.3(SMAD3):c.101C>T p.(Ala34Val) - SMAD3_000007 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-511A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
-?/. - c.102G>T r.(?) p.(Ala34=) Unknown - likely benign g.67358594G>T - SMAD3(NM_005902.4):c.102G>T (p.A34=) - SMAD3_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.184A>C r.(?) p.(Thr62Pro) Unknown - VUS g.67358676A>C g.67066338A>C SMAD3(NM_005902.3):c.184A>C (p.T62P) - SMAD3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.206+36C>T r.(=) p.(=) Unknown - likely benign g.67358734C>T - SMAD3(NM_005902.4):c.206+36C>T - SMAD3_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206+6924A>G r.(=) p.(=) Unknown - VUS g.67365622A>G g.67073284A>G - - SMAD3_000001 - PubMed: Sebastiani 2008 - rs10518707 Germline - - - - - DNA ? - - ? - PubMed: Sebastiani 2008 associated analtysis fetal hemoglobin (HbF) level - - - - - - - - 1 HbVar - Belinda Giardine and Ross Hardison
-/. - c.206+35903_206+35908dup r.(=) p.(=) Unknown - benign g.67394601_67394606dup - SMAD3(NM_005902.4):c.206+35900_206+35905dupGTGTGT - SMAD3_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206+47777G>A r.(=) p.(=) Unknown - VUS g.67406475G>A g.67114137G>A - - SMAD3_000002 - PubMed: Sebastiani 2008 - rs8038623 Germline - - - - - DNA ? - - ? - PubMed: Sebastiani 2008 associated analtysis fetal hemoglobin (HbF) level - - - - - - - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. - c.207-26797del r.(=) p.(=) Unknown - pathogenic g.67430436del - SMAD3(NM_001145103.1):c.72delG (p.(Arg25fs)), SMAD3(NM_001145103.1):c.72delG (p.R25Gfs*47) - SMAD3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.207-26797del r.(=) p.(=) Unknown - VUS g.67430436del - SMAD3(NM_001145103.1):c.72delG (p.(Arg25fs)), SMAD3(NM_001145103.1):c.72delG (p.R25Gfs*47) - SMAD3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.221G>A r.(?) p.(Arg74Gln) Parent #1 ACMG likely pathogenic g.67457247G>A g.67164909G>A - - SMAD3_000102 ACMG PM2, PM5, PP2, PP1, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.229G>A r.(?) p.(Val77Met) Unknown - likely pathogenic g.67457255G>A g.67164917G>A SMAD3(NM_005902.4):c.229G>A (p.V77M) - SMAD3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.238C>A r.(?) p.(=) Unknown - likely benign g.67457264C>A - SMAD3(NM_005902.4):c.238C>A (p.R80=) - SMAD3_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.238C>G r.(?) p.(Arg80Gly) Unknown - likely pathogenic g.67457264C>G g.67164926C>G SMAD3(NM_005902.4):c.238C>G (p.R80G) - SMAD3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.246_254dup r.(?) p.(Pro84_His85insGlnLeuPro) Unknown - pathogenic g.67457272_67457280dup - SMAD3(NM_005902.4):c.246_254dupGCTCCCTCA (p.P84_H85insQLP) - SMAD3_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.253C>G r.(?) p.(His85Asp) Unknown - VUS g.67457279C>G g.67164941C>G - - SMAD3_000090 pathogenic tendency - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - LDS3 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/. - c.266G>A r.(?) p.(Cys89Tyr) Parent #1 ACMG pathogenic g.67457292G>A g.67164954G>A - - SMAD3_000103 ACMG PM2, PP2, PP1-S, PP1-M, PP1, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.269G>A r.(?) p.(Arg90His) Parent #1 ACMG likely pathogenic g.67457295G>A g.67164957G>A - - SMAD3_000104 ACMG PM2, PP2, PP1, PP1-M, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.277C>T r.(?) p.(Arg93*) Parent #1 - likely pathogenic g.67457303C>T g.67164965C>T - - SMAD3_000083 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs768713596 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.281G>T r.(?) p.(Trp94Leu) Parent #1 ACMG VUS g.67457307G>T g.67164969G>T - - SMAD3_000105 ACMG PM2, PP2, PP1, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.290T>G r.(?) p.(Leu97Arg) Parent #1 ACMG VUS g.67457316T>G g.67164978T>G - - SMAD3_000106 ACMG PM2, PP2, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.300_301insAGGGCCGGCAGGC r.(?) p.(His101ArgfsTer14) Parent #1 ACMG pathogenic g.67457326_67457327insAGGGCCGGCAGGC g.67164988_67164989insAGGGCCGGCAGGC - - SMAD3_000107 ACMG PM2, PVS1, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.304G>A r.(?) p.(Glu102Lys) Unknown - VUS g.67457330G>A g.67164992G>A SMAD3(NM_005902.3):c.304G>A (p.E102K) - SMAD3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.304G>A r.(?) p.(Glu102Lys) Unknown - VUS g.67457330G>A - SMAD3(NM_005902.3):c.304G>A (p.E102K) - SMAD3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.309A>G r.(?) p.(Leu103=) Unknown - benign g.67457335A>G g.67164997A>G SMAD3(NM_005902.3):c.309A>G (p.L103=), SMAD3(NM_005902.4):c.309A>G (p.L103=) - SMAD3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.309A>G r.(?) p.(Leu103=) Unknown - benign g.67457335A>G g.67164997A>G SMAD3(NM_005902.3):c.309A>G (p.L103=), SMAD3(NM_005902.4):c.309A>G (p.L103=) - SMAD3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.309A>G r.(?) p.(Leu103=) Unknown - benign g.67457335A>G g.67164997A>G SMAD3(NM_005902.3):c.309A>G (p.L103=), SMAD3(NM_005902.4):c.309A>G (p.L103=) - SMAD3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.313del r.(?) p.(Ala105ProfsTer11) Parent #1 ACMG pathogenic g.67457339del g.67165001del c.313delG - SMAD3_000108 ACMG PM2, PVS1, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.316A>G r.(?) p.(Met106Val) Parent #1 - likely pathogenic g.67457342A>G g.67165004A>G - - SMAD3_000003 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
-?/. - c.316A>G r.(?) p.(Met106Val) Unknown - likely benign g.67457342A>G g.67165004A>G SMAD3(NM_001145102.1):c.1A>G (p.(Met1?)) - SMAD3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.316A>G r.(?) p.(Met106Val) Unknown - likely benign g.67457342A>G g.67165004A>G SMAD3(NM_001145102.1):c.1A>G (p.(Met1?)) - SMAD3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.335C>T r.(?) p.(Ala112Val) Parent #1 ACMG likely pathogenic g.67457361C>T g.67165023C>T - - SMAD3_000109 ACMG PM2, PP2, PP1-M, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.335C>T r.(?) p.(Ala112Val) Parent #1 - pathogenic (dominant) g.67457361C>T - - - SMAD3_000109 - PubMed: Regalado 2011 - - Germline yes - - - - DNA SEQ - - LDS FamTAA115 PubMed: Regalado 2011 2-generation family, 3 affected (F, 2M) F;M - United States - - - - - 3 Johan den Dunnen
./. - c.341A>G r.(?) p.(Asn114Ser) Parent #1 - VUS g.67457367A>G g.67165029A>G - - SMAD3_000004 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
?/. - c.370C>A r.(?) p.(Pro124Thr) Parent #1 ACMG VUS g.67457396C>A g.67165058C>A - - SMAD3_000110 ACMG PM2, PP2, PP5, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.374A>C r.(?) p.(Tyr125Ser) Unknown - VUS g.67457400A>C g.67165062A>C SMAD3(NM_005902.3):c.374A>C (p.Y125S) - SMAD3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.374A>C r.(?) p.(Tyr125Ser) Parent #1 ACMG likely pathogenic g.67457400A>C g.67165062A>C - - SMAD3_000013 ACMG PM2, PM5, PP2, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.374A>G r.(?) p.(Tyr125Cys) Parent #1 ACMG likely pathogenic g.67457400A>G g.67165062A>G - - SMAD3_000111 ACMG PM2, PM5, PP2, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.391G>C r.(?) p.(Glu131Gln) Parent #1 - VUS g.67457417G>C g.67165079G>C - - SMAD3_000005 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
+/. - c.391_394dup r.(?) p.(Thr132ArgfsTer35) Unknown - pathogenic g.67457417_67457420dup g.67165079_67165082dup SMAD3(NM_005902.4):c.391_394dupGAGA (p.T132Rfs*35) - SMAD3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.391_394dup r.(?) p.(Thr132ArgfsTer35) Parent #1 - likely pathogenic g.67457417_67457420dup g.67165079_67165082dup - - SMAD3_000052 - PubMed: Overwater 2018 - - Germline - 4/128 cases FA - - - DNA SEQ, SEQ-NG - gene panel ? Pat43 PubMed: Overwater 2018 - - - Netherlands - - - - - 1 Johan den Dunnen
?/. - c.394A>G r.(?) p.(Thr132Ala) Unknown - VUS g.67457420A>G g.67165082A>G SMAD3(NM_005902.4):c.394A>G (p.T132A) - SMAD3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.394A>G r.(?) p.(Thr132Ala) Unknown - VUS g.67457420A>G g.67165082A>G SMAD3(NM_005902.4):c.394A>G (p.T132A) - SMAD3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.394A>G r.(?) p.(Thr132Ala) Parent #1 - VUS g.67457420A>G g.67165082A>G - - SMAD3_000053 - PubMed: Overwater 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat137 PubMed: Overwater 2018 - - - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.400+5G>T r.spl? p.? Unknown - likely benign g.67457431G>T g.67165093G>T - - SMAD3_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.400+5G>T r.[401_532del,=] p.Val134_Pro177del Unknown - VUS g.67457431G>T g.67165093G>T - - SMAD3_000076 effect on RNA exon skipping - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
-/. - c.400+59G>C r.(=) p.(=) Unknown - benign g.67457485G>C g.67165147G>C SMAD3(NM_005902.3):c.400+59G>C - SMAD3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.400+59_400+60insC r.(=) p.(=) Unknown - benign g.67457485_67457486insC g.67165147_67165148insC SMAD3(NM_005902.3):c.400+59_400+60insC - SMAD3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.400+81C>T r.(=) p.(=) Unknown - likely benign g.67457507C>T - SMAD3(NM_005902.4):c.400+81C>T - SMAD3_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.401-7C>T r.(=) p.(=) Unknown - likely benign g.67457584C>T g.67165246C>T SMAD3(NM_001145102.1):c.86-7C>T (p.(=)) - SMAD3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.401-6G>A r.(=) p.(=) Unknown - pathogenic g.67457585G>A g.67165247G>A SMAD3(NM_005902.3):c.401-6G>A - SMAD3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.401-6G>A r.(=) p.(=) Unknown - pathogenic g.67457585G>A g.67165247G>A SMAD3(NM_005902.3):c.401-6G>A - SMAD3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.401-6G>A p.Val134Aspfs*33 p.(Val134Aspfs*33) Parent #1 ACMG pathogenic g.67457585G>A g.67165247G>A - - SMAD3_000017 ACMG PM2, PVS1, PS1, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.401-6G>A r.[400_401insACAG,=] p.[Val134AspfsTer33,=] Unknown - pathogenic g.67457585G>A g.67165247G>A - - SMAD3_000017 effect on RNA inclusion of intron sequences - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
?/. - c.401T>C r.(?) p.(Val134Ala) Unknown - VUS g.67457591T>C g.67165253T>C SMAD3(NM_005902.3):c.401T>C (p.V134A), SMAD3(NM_005902.4):c.401T>C (p.V134A) - SMAD3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.401T>C r.(?) p.(Val134Ala) Unknown - VUS g.67457591T>C g.67165253T>C SMAD3(NM_005902.3):c.401T>C (p.V134A), SMAD3(NM_005902.4):c.401T>C (p.V134A) - SMAD3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.401T>C r.(?) p.(Val134Ala) Parent #1 - VUS g.67457591T>C g.67165253T>C - - SMAD3_000056 - PubMed: Overwater 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat138 PubMed: Overwater 2018 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.401_405dup r.(?) p.(Pro136PhefsTer52) Parent #1 ACMG pathogenic g.67457591_67457595dup g.67165253_67165257dup c.401_405dup - SMAD3_000112 ACMG PM2, PVS1, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.425G>A r.(?) p.(Arg142His) Unknown - VUS g.67457615G>A - SMAD3(NM_005902.4):c.425G>A (p.R142H) - SMAD3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.440C>T r.(?) p.(Pro147Leu) Unknown - likely benign g.67457630C>T g.67165292C>T SMAD3(NM_005902.3):c.440C>T (p.P147L, p.(Pro147Leu)), SMAD3(NM_005902.4):c.440C>T (p.P147L) - SMAD3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.440C>T r.(?) p.(Pro147Leu) Unknown - VUS g.67457630C>T - SMAD3(NM_005902.3):c.440C>T (p.P147L, p.(Pro147Leu)), SMAD3(NM_005902.4):c.440C>T (p.P147L) - SMAD3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.440C>T r.(?) p.(Pro147Leu) Unknown - VUS g.67457630C>T - SMAD3(NM_005902.3):c.440C>T (p.P147L, p.(Pro147Leu)), SMAD3(NM_005902.4):c.440C>T (p.P147L) - SMAD3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.443C>A r.(?) p.(Ala148Asp) Unknown - VUS g.67457633C>A g.67165295C>A - - SMAD3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.444C>G r.(?) p.(Ala148=) Unknown - likely benign g.67457634C>G g.67165296C>G - - SMAD3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.455del r.(?) p.(Pro152HisfsTer34) Parent #1 ACMG pathogenic g.67457645del g.67165307del c.455delC - SMAD3_000113 ACMG PM2, PVS1, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.457C>T r.(?) p.(Leu153=) Unknown - likely benign g.67457647C>T g.67165309C>T SMAD3(NM_005902.3):c.457C>T (p.L153=) - SMAD3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.457C>T r.(?) p.(Leu153=) Unknown - likely benign g.67457647C>T - SMAD3(NM_005902.3):c.457C>T (p.L153=) - SMAD3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.483del r.(?) p.(Glu162Lysfs*24) Maternal (confirmed) - pathogenic g.67457673del g.67165335del - - SMAD3_000151 - PubMed: Almpani 2022 - - Germline yes - - - - DNA SEQ - - LDS FamPatXXVIA PubMed: Almpani 2022 family, proband - - United States - - - - - 3 Johan den Dunnen
+/. - c.483del r.(?) p.(Glu162Lysfs*24) Unknown - pathogenic g.67457673del g.67165335del - - SMAD3_000151 - PubMed: Almpani 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - LDS FamPatXXVIB PubMed: Almpani 2022 mother - - United States - - - - - 1 Johan den Dunnen
+/. - c.483del r.(?) p.(Glu162Lysfs*24) Parent #1 - pathogenic g.67457673del g.67165335del - - SMAD3_000151 - PubMed: Almpani 2022 - - Germline yes - - - - DNA SEQ - - LDS FamPatXXVIC PubMed: Almpani 2022 sibling - - United States - - - - - 1 Johan den Dunnen
+/. - c.492dup r.(?) p.(Asn165Ter) Unknown - pathogenic g.67457682dup g.67165344dup SMAD3(NM_005902.4):c.492dupT (p.N165*) - SMAD3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.492dup r.(?) p.(Asn165Ter) Parent #1 - likely pathogenic g.67457682dup g.67165344dup - - SMAD3_000057 - PubMed: Overwater 2018 - - Germline yes 1/128 cases FA - - - DNA SEQ, SEQ-NG - gene panel ? Pat44 PubMed: Overwater 2018 - - - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.495C>A r.(?) p.(Asn165Lys) Unknown - likely benign g.67457685C>A g.67165347C>A SMAD3(NM_005902.3):c.495C>A (p.N165K) - SMAD3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.508A>G r.(?) p.(Ile170Val) Unknown - benign g.67457698A>G g.67165360A>G SMAD3(NM_001145102.1):c.193A>G (p.(Ile65Val)), SMAD3(NM_005902.3):c.508A>G (p.I170V), SMAD3(NM_005902.4):c.508A>G (p.I170V) - SMAD3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.508A>G r.(?) p.(Ile170Val) Unknown - benign g.67457698A>G g.67165360A>G SMAD3(NM_001145102.1):c.193A>G (p.(Ile65Val)), SMAD3(NM_005902.3):c.508A>G (p.I170V), SMAD3(NM_005902.4):c.508A>G (p.I170V) - SMAD3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.508A>G r.(?) p.(Ile170Val) Unknown - likely benign g.67457698A>G g.67165360A>G SMAD3(NM_001145102.1):c.193A>G (p.(Ile65Val)), SMAD3(NM_005902.3):c.508A>G (p.I170V), SMAD3(NM_005902.4):c.508A>G (p.I170V) - SMAD3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.508A>G r.(?) p.(Ile170Val) Unknown - benign g.67457698A>G g.67165360A>G SMAD3(NM_001145102.1):c.193A>G (p.(Ile65Val)), SMAD3(NM_005902.3):c.508A>G (p.I170V), SMAD3(NM_005902.4):c.508A>G (p.I170V) - SMAD3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.511G>T r.(?) p.(Glu171Ter) Parent #1 ACMG pathogenic g.67457701G>T g.67165363G>T - - SMAD3_000114 ACMG PM2, PVS1, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.532+1G>C r.spl p.? Parent #1 ACMG pathogenic g.67457723G>C g.67165385G>C - - SMAD3_000115 ACMG PM2, PVS1, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.532+10_532+15dup r.(=) p.(=) Unknown - likely benign g.67457732_67457737dup g.67165394_67165399dup SMAD3(NM_005902.3):c.532+8_532+13dupCGTGGG - SMAD3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.532+14C>T r.(=) p.(=) Unknown - likely benign g.67457736C>T - SMAD3(NM_005902.3):c.532+14C>T - SMAD3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.532+241C>T r.(=) p.(=) Unknown - likely benign g.67457963C>T - SMAD3(NM_005902.4):c.532+241C>T - SMAD3_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.533-79G>A r.(=) p.(=) Unknown - likely benign g.67459038G>A g.67166700G>A SMAD3(NM_005902.4):c.533-79G>A - SMAD3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.539dup r.(?) p.(Pro181ThrfsTer7) Parent #1 ACMG pathogenic g.67459123dup g.67166785dup c.539_540insC - SMAD3_000116 ACMG PM2, PVS1, PS1, PP4 PubMed: Schepers 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.539dup r.(?) p.(Pro181Thrfs*7) Unknown - pathogenic (dominant) g.67459123dup g.67166785dup 539_540insC - SMAD3_000116 - PubMed: Van de Laar 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? Fam8PatII1 PubMed: Van de Laar 2012 2-generation family, 1 affected M - - - - - - - 1 Johan den Dunnen
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