Full data view for gene WNT10A

Information The variants shown are described using the NM_025216.2 transcript reference sequence.

157 entries on 2 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     
-?/. - c.-312C>T r.(?) p.(=) Unknown - likely benign g.219745406C>T g.218880684C>T WNT10A(NM_025216.3):c.-312C>T - WNT10A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.1A>T r.(?) p.(Met1?) Parent #1 - pathogenic (recessive) g.219745718A>T g.218880996A>T - - WNT10A_000030 - PubMed: Martínez-Romero 2019 - - Germline - - - 0 - DNA SEQ - - ? Pat27 PubMed: Martínez-Romero 2019 - F - Spain - - 0 - - 1 Johan den Dunnen
+?/. 1 c.18_43del r.(?) p.(Arg7AlafsTer28) Both (homozygous) - likely pathogenic (recessive) g.219745735_219745760del g.218881013_218881038del c.18_43del26 - WNT10A_000031 - PubMed: Martínez-Romero 2019 - - Unknown - - - 0 - DNA SEQ - - SSPS Pat43 PubMed: Martínez-Romero 2019 - F - Spain - - 0 - - 1 Johan den Dunnen
+?/. 1 c.18_43del r.(?) p.(Arg7AlafsTer28) Parent #1 - likely pathogenic (recessive) g.219745735_219745760del g.218881013_218881038del c.18_43del26 - WNT10A_000031 - PubMed: Martínez-Romero 2019 - - Germline - - - 0 - DNA SEQ - - ? Pat44 PubMed: Martínez-Romero 2019 - F - Spain - - 0 - - 1 Johan den Dunnen
+/. 1 c.27G>A r.(?) p.(Trp9Ter) Parent #1 - pathogenic (recessive) g.219745744G>A g.218881022G>A - - WNT10A_000032 - PubMed: Martínez-Romero 2019 - - Germline - - - 0 - DNA SEQ - - HED Pat46 PubMed: Martínez-Romero 2019 - F - Spain - - 0 - - 1 Johan den Dunnen
+/. - c.69G>A r.(?) p.(Trp23*) Unknown - pathogenic g.219745786G>A - WNT10A(NM_025216.3):c.69G>A (p.W23*) - WNT10A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.86T>G r.(?) p.(Leu29Arg) Parent #1 - likely pathogenic (recessive) g.219745803T>G g.218881081T>G - - WNT10A_000033 - PubMed: Bodemer 2019 - - Germline - - - 0 - DNA SEQ - - ECTD WNT10A_F4 PubMed: Bodemer 2019 - F no Turkey - - 0 - - 1 Johan den Dunnen
+?/. 1 c.92T>A r.(?) p.(Leu31Gln) Parent #2 - likely pathogenic (recessive) g.219745809T>A g.218881087T>A - - WNT10A_000034 - PubMed: Martínez-Romero 2019 - - Germline - - - 0 - DNA SEQ - - HED Pat46 PubMed: Martínez-Romero 2019 - F - Spain - - 0 - - 1 Johan den Dunnen
+/. 1 c.103_104insGCCTGCT r.(?) p.(Ala35GlyfsTer11) Parent #2 - pathogenic (recessive) g.219745820_219745821insGCCTGCT g.218881098_218881099insGCCTGCT c.103-104insGCCTGCT - WNT10A_000035 - PubMed: Bodemer 2019 - - Germline - - - 0 - DNA SEQ - - ECTD WNT10A_F4 PubMed: Bodemer 2019 - F no Turkey - - 0 - - 1 Johan den Dunnen
-?/. - c.208C>T r.(?) p.(Arg70Trp) Parent #1 - likely benign g.219746977C>T g.218882255C>T - - WNT10A_000023 34 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146460077 Germline - 34/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 34 Mohammed Faruq
?/. - c.212A>T r.(?) p.(Gln71Leu) Unknown - VUS g.219746981A>T g.218882259A>T WNT10A(NM_025216.3):c.212A>T (p.Q71L) - WNT10A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.283G>A r.(?) p.(Glu95Lys) Parent #1 - pathogenic g.219747052G>A g.218882330G>A - - WNT10A_000002 - {CVvar:68843} - rs318240759 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 2 c.310C>T r.(?) p.(Arg104Cys) Both (homozygous) - pathogenic (recessive) g.219747079C>T g.218882357C>T - - WNT10A_000036 - PubMed: Bodemer 2019 - - Germline - - - 0 - DNA SEQ - - ECTD WNT10A_F3 PubMed: Bodemer 2019 - F yes Turkey - - 0 - - 1 Johan den Dunnen
?/. 2 c.311G>A r.(?) p.(Arg104His) Parent #1 - VUS g.219747080G>A g.218882358G>A - - WNT10A_000003 - - - - Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
?/. - c.311G>A r.(?) p.(Arg104His) Unknown - VUS g.219747080G>A g.218882358G>A WNT10A(NM_025216.3):c.311G>A (p.R104H) - WNT10A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #2 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. - c.321C>A r.(?) p.(Cys107Ter) Unknown - pathogenic g.219747090C>A g.218882368C>A WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.C107*) - WNT10A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.321C>A r.(?) p.(Cys107Ter) Unknown - pathogenic g.219747090C>A g.218882368C>A WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.C107*) - WNT10A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.321C>A r.(?) p.(Cys107Ter) Unknown - pathogenic g.219747090C>A g.218882368C>A WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.C107*) - WNT10A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.321C>A r.(?) p.(Cys107Ter) Unknown - pathogenic g.219747090C>A g.218882368C>A WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.C107*) - WNT10A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.321C>A r.(?) p.(Cys107Ter) Unknown - pathogenic g.219747090C>A - WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.C107*) - WNT10A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.321C>A r.(?) p.(Cys107Ter) Both (homozygous) - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - PubMed: Prasad 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - disease gene panel STHAG V2.55 PubMed: Prasad 2016 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.321C>A r.(?) p.(Cys107Ter) Parent #2 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - PubMed: Prasad 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - disease gene panel STHAG V2.71 PubMed: Prasad 2016 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.321C>A r.(?) p.(Cys107Ter) Unknown - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - PubMed: Prasad 2016 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - disease gene panel STHAG V2.72 PubMed: Prasad 2016 - M - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.321C>A r.(?) p.(Cys107Ter) Both (homozygous) - pathogenic (recessive) g.219747090C>A g.218882368C>A - - WNT10A_000004 - PubMed: Martínez-Romero 2019 - - Germline - - - 0 - DNA SEQ - - SSPS Pat49 PubMed: Martínez-Romero 2019 - M - Spain - - 0 - - 1 Johan den Dunnen
+?/. 2 c.321C>A r.(?) p.(Cys107Ter) Parent #2 - likely pathogenic (recessive) g.219747090C>A g.218882368C>A - - WNT10A_000004 - PubMed: Martínez-Romero 2019 - - Germline - - - 0 - DNA SEQ - - ? Pat27 PubMed: Martínez-Romero 2019 - F - Spain - - 0 - - 1 Johan den Dunnen
+/. - c.337C>T r.(?) p.(Arg113Cys) Unknown - pathogenic g.219747106C>T g.218882384C>T WNT10A(NM_025216.3):c.337C>T (p.R113C) - WNT10A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.337C>T r.(?) p.(Arg113Cys) Unknown - VUS g.219747106C>T g.218882384C>T WNT10A(NM_025216.3):c.337C>T (p.R113C) - WNT10A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.343A>C r.(?) p.(Lys115Gln) Parent #1 - pathogenic g.219747112A>C g.218882390A>C - - WNT10A_000028 - PubMed: Prasad 2016 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - disease gene panel STHAG V1.15 PubMed: Prasad 2016 - F - - - - 0 - - 1 Johan den Dunnen
?/. - c.347T>C r.(?) p.(Ile116Thr) Unknown - VUS g.219747116T>C g.218882394T>C WNT10A(NM_025216.2):c.347T>C (p.I116T), WNT10A(NM_025216.3):c.347T>C (p.I116T) - WNT10A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.347T>C r.(?) p.(Ile116Thr) Unknown - VUS g.219747116T>C - WNT10A(NM_025216.2):c.347T>C (p.I116T), WNT10A(NM_025216.3):c.347T>C (p.I116T) - WNT10A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.383G>A r.(?) p.(Arg128Gln) Parent #1 - pathogenic g.219754712G>A g.218889990G>A - - WNT10A_000005 - {CVvar:4463} - rs121908121 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 3 c.383G>A r.(?) p.(Arg128Gln) Parent #1 - pathogenic g.219754712G>A g.218889990G>A - - WNT10A_000005 - {CVvar:4463} - rs121908121 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+?/. - c.383G>A r.(?) p.(Arg128Gln) Unknown - likely pathogenic g.219754712G>A g.218889990G>A WNT10A(NM_025216.3):c.383G>A (p.R128Q) - WNT10A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.383G>A r.(?) p.(Arg128Gln) Unknown - pathogenic g.219754712G>A g.218889990G>A WNT10A(NM_025216.3):c.383G>A (p.R128Q) - WNT10A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.383G>A r.(?) p.(Arg128Gln) Parent #1 - likely pathogenic g.219754712G>A g.218889990G>A - - WNT10A_000005 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908121 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. - c.383G>A r.(?) p.(Arg128Gln) Maternal (confirmed) - pathogenic (dominant) g.219754712G>A g.218889990G>A - - WNT10A_000005 - PubMed: Prasad 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - disease gene panel STHAG V1.11 PubMed: Prasad 2016 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.416C>T r.(?) p.(Ala139Val) Parent #2 - pathogenic g.219754745C>T g.218890023C>T - - WNT10A_000029 - PubMed: Prasad 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - disease gene panel STHAG V2.54 PubMed: Prasad 2016 - F - - - - 0 - - 1 Johan den Dunnen
?/. 3 c.433G>A r.(?) p.(Val145Met) Parent #1 - VUS g.219754762G>A g.218890040G>A - - WNT10A_000006 - - - - Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
?/. 3 c.433G>A r.(?) p.(Val145Met) Parent #2 - VUS g.219754762G>A g.218890040G>A - - WNT10A_000006 - - - - Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+?/. - c.433G>A r.(?) p.(Val145Met) Both (homozygous) ACMG likely pathogenic (recessive) g.219754762G>A - - - WNT10A_000006 ACMG: PS4, PS3_SUP, PM2_SUP, PM3_SUP, PP3 - - - Germline yes - - 0 - DNA SEQ-NG-I - - STHAG4 181158 - - M likely ? (unknown) - - 0 - - 1 Andreas Laner
+/. 1 c.433G>A r.(?) p.(Val145Met) Parent #1 - pathogenic (recessive) g.219754762G>A g.218890040G>A - - WNT10A_000006 - PubMed: Bodemer 2019 - - Germline - - - 0 - DNA SEQ - - ECTD WNT10A_F1 PubMed: Bodemer 2019 - F no Turkey - - 0 - - 1 Johan den Dunnen
+/. 1 c.433G>A r.(?) p.(Val145Met) Both (homozygous) - pathogenic (recessive) g.219754762G>A g.218890040G>A - - WNT10A_000006 - PubMed: Bodemer 2019 - - Germline yes - - 0 - DNA SEQ - - ECTD WNT10A_F2-1 PubMed: Bodemer 2019 2-generation family, 2 affected brothers M no Turkey - - 0 - - 2 Johan den Dunnen
+/. 1 c.433G>A r.(?) p.(Val145Met) Both (homozygous) - pathogenic (recessive) g.219754762G>A g.218890040G>A - - WNT10A_000006 - PubMed: Bodemer 2019 - - Germline yes - - 0 - DNA SEQ - - ECTD WNT10A_F2-2 PubMed: Bodemer 2019 - M no Turkey - - 0 - - 1 Johan den Dunnen
+?/. - c.443C>T r.(?) p.(Ala148Val) Unknown - likely pathogenic g.219754772C>T g.218890050C>T WNT10A(NM_025216.3):c.443C>T (p.A148V) - WNT10A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.487C>T r.(?) p.(Arg163Trp) Parent #1 - VUS g.219754816C>T g.218890094C>T - - WNT10A_000007 - - - rs368280129 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+?/. - c.487C>T r.(?) p.(Arg163Trp) Unknown - likely pathogenic g.219754816C>T g.218890094C>T WNT10A(NM_025216.3):c.487C>T (p.R163W) - WNT10A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487C>T r.(?) p.(Arg163Trp) Unknown - VUS g.219754816C>T g.218890094C>T WNT10A(NM_025216.3):c.487C>T (p.R163W) - WNT10A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.493G>A r.(?) p.(Gly165Arg) Maternal (confirmed) - likely benign g.219754822G>A g.218890100G>A - - WNT10A_000019 - PubMed: Papuc 2019 - rs77583146 Germline - - - 0 - DNA SEQ-NG-I blood WES EE 73704 - - F - - - - 0 - - 1 Anaïs Begemann
-?/. - c.493G>A r.(?) p.(Gly165Arg) Unknown - likely benign g.219754822G>A g.218890100G>A WNT10A(NM_025216.3):c.493G>A (p.G165R) - WNT10A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.493G>A r.(?) p.(Gly165Arg) Unknown - VUS g.219754822G>A g.218890100G>A WNT10A(NM_025216.3):c.493G>A (p.G165R) - WNT10A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.493G>A r.(?) p.(Gly165Arg) Unknown - likely benign g.219754822G>A g.218890100G>A WNT10A(NM_025216.3):c.493G>A (p.G165R) - WNT10A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.511C>T r.(?) p.(Arg171Cys) Unknown - VUS g.219754840C>T g.218890118C>T WNT10A(NM_025216.2):c.511C>T (p.R171C), WNT10A(NM_025216.3):c.511C>T (p.R171C) - WNT10A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.511C>T r.(?) p.(Arg171Cys) Unknown - VUS g.219754840C>T g.218890118C>T WNT10A(NM_025216.2):c.511C>T (p.R171C), WNT10A(NM_025216.3):c.511C>T (p.R171C) - WNT10A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.511C>T r.(?) p.(Arg171Cys) Paternal (confirmed) - VUS g.219754840C>T g.218890118C>T - - WNT10A_000015 - PubMed: Papuc 2019 - rs116998555 Germline - - - 0 - DNA SEQ-NG-I blood WES EE 73704 - - F - - - - 0 - - 1 Anaïs Begemann
?/. - c.511C>T r.(?) p.(Arg171Cys) Unknown - VUS g.219754840C>T g.218890118C>T WNT10A(NM_025216.2):c.511C>T (p.R171C), WNT10A(NM_025216.3):c.511C>T (p.R171C) - WNT10A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.511C>T r.(?) p.(Arg171Cys) Unknown - VUS g.219754840C>T - WNT10A(NM_025216.2):c.511C>T (p.R171C), WNT10A(NM_025216.3):c.511C>T (p.R171C) - WNT10A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.514A>T r.(?) p.(Arg172Trp) Unknown - VUS g.219754843A>T g.218890121A>T WNT10A(NM_025216.3):c.514A>T (p.R172W) - WNT10A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.514A>T r.(?) p.(Arg172Trp) Parent #1 - pathogenic (recessive) g.219754843A>T g.218890121A>T - - WNT10A_000021 - PubMed: Martínez-Romero 2019 - - Germline - - - 0 - DNA SEQ - - ? Pat41 PubMed: Martínez-Romero 2019 - M - Spain - - 0 - - 1 Johan den Dunnen
+/. - c.637G>A r.(?) p.(Gly213Ser) Unknown - pathogenic g.219754966G>A g.218890244G>A - - WNT10A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.637G>A r.(?) p.(Gly213Ser) Unknown - likely benign g.219754966G>A g.218890244G>A - - WNT10A_000016 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.014 - 0 - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.637G>A r.(?) p.(Gly213Ser) Unknown - pathogenic (dominant) g.219754966G>A g.218890244G>A - - WNT10A_000016 - PubMed: Prasad 2016 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - disease gene panel STHAG V2.69 PubMed: Prasad 2016 - M - - - - 0 - - 1 Johan den Dunnen
?/. - c.649G>A r.(?) p.(Asp217Asn) Unknown - VUS g.219754978G>A g.218890256G>A - - WNT10A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.662G>A r.(?) p.(Gly221Glu) Unknown - VUS g.219754991G>A - WNT10A(NM_025216.3):c.662G>A (p.G221E) - WNT10A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.682T>A r.(?) p.(Phe228Ile) Unknown - VUS g.219755011T>A g.218890289T>A - - WNT10A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.682T>A r.(?) p.(Phe228Ile) Unknown - VUS g.219755011T>A g.218890289T>A - - WNT10A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.682T>A r.(?) p.(Phe228Ile) Unknown - VUS g.219755011T>A g.218890289T>A - - WNT10A_000001 - - - - Germline - - - - - DNA SEQ-NG - - Healthy/Control - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.682T>A r.(?) p.(Phe228Ile) Unknown - VUS g.219755011T>A g.218890289T>A - - WNT10A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.682T>A r.(?) p.(Phe228Ile) Unknown - VUS g.219755011T>A g.218890289T>A - - WNT10A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3 c.682T>A r.(?) p.(Phe228Ile) Parent #1 - pathogenic g.219755011T>A g.218890289T>A - - WNT10A_000001 - {CVvar:4462} - rs121908120 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 3 c.682T>A r.(?) p.(Phe228Ile) Parent #1 - pathogenic g.219755011T>A g.218890289T>A - - WNT10A_000001 - {CVvar:4462} - rs121908120 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 3 c.682T>A r.(?) p.(Phe228Ile) Parent #1 - pathogenic g.219755011T>A g.218890289T>A - - WNT10A_000001 - {CVvar:4462} - rs121908120 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 3 c.682T>A r.(?) p.(Phe228Ile) Parent #1 - pathogenic g.219755011T>A g.218890289T>A - - WNT10A_000001 - {CVvar:4462} - rs121908120 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 3 c.682T>A r.(?) p.(Phe228Ile) Parent #1 - pathogenic g.219755011T>A g.218890289T>A - - WNT10A_000001 - {CVvar:4462} - rs121908120 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 3 c.682T>A r.(?) p.(Phe228Ile) Parent #1 - pathogenic g.219755011T>A g.218890289T>A - - WNT10A_000001 - {CVvar:4462} - rs121908120 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 3 c.682T>A r.(?) p.(Phe228Ile) Parent #1 - pathogenic g.219755011T>A g.218890289T>A - - WNT10A_000001 - {CVvar:4462} - rs121908120 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 3 c.682T>A r.(?) p.(Phe228Ile) Parent #1 - pathogenic g.219755011T>A g.218890289T>A - - WNT10A_000001 - {CVvar:4462} - rs121908120 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 3 c.682T>A r.(?) p.(Phe228Ile) Parent #1 - pathogenic g.219755011T>A g.218890289T>A - - WNT10A_000001 - {CVvar:4462} - rs121908120 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 3 c.682T>A r.(?) p.(Phe228Ile) Parent #1 - pathogenic g.219755011T>A g.218890289T>A - - WNT10A_000001 - {CVvar:4462} - rs121908120 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 3 c.682T>A r.(?) p.(Phe228Ile) Parent #1 - pathogenic g.219755011T>A g.218890289T>A - - WNT10A_000001 - {CVvar:4462} - rs121908120 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 3 c.682T>A r.(?) p.(Phe228Ile) Parent #1 - pathogenic g.219755011T>A g.218890289T>A - - WNT10A_000001 - {CVvar:4462} - rs121908120 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 3 c.682T>A r.(?) p.(Phe228Ile) Parent #1 - pathogenic g.219755011T>A g.218890289T>A - - WNT10A_000001 - {CVvar:4462} - rs121908120 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 3 c.682T>A r.(?) p.(Phe228Ile) Parent #2 - pathogenic g.219755011T>A g.218890289T>A - - WNT10A_000001 - {CVvar:4462} - rs121908120 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 3 c.682T>A r.(?) p.(Phe228Ile) Parent #2 - pathogenic g.219755011T>A g.218890289T>A - - WNT10A_000001 - {CVvar:4462} - rs121908120 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
+/. 3 c.682T>A r.(?) p.(Phe228Ile) Parent #2 - pathogenic g.219755011T>A g.218890289T>A - - WNT10A_000001 - {CVvar:4462} - rs121908120 Germline - - - 0 - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - 0 - - 1 Hans K Ploos van Amstel
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