Unique variants in the WNT10A gene

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

39 entries on 1 page. Showing entries 1 - 39.
Legend   How to query  

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     
-?/. 1 - c.-312C>T r.(?) p.(=) - likely benign g.219745406C>T g.218880684C>T WNT10A(NM_025216.3):c.-312C>T - WNT10A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 1 c.1A>T r.(?) p.(Met1?) - pathogenic (recessive) g.219745718A>T g.218880996A>T - - WNT10A_000030 - PubMed: Martínez-Romero 2019 - - Germline - - - - - Johan den Dunnen
+?/. 2 1 c.18_43del r.(?) p.(Arg7AlafsTer28) - likely pathogenic (recessive) g.219745735_219745760del g.218881013_218881038del c.18_43del26 - WNT10A_000031 - PubMed: Martínez-Romero 2019 - - Germline, Unknown - - - - - Johan den Dunnen
+/. 1 1 c.27G>A r.(?) p.(Trp9Ter) - pathogenic (recessive) g.219745744G>A g.218881022G>A - - WNT10A_000032 - PubMed: Martínez-Romero 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.69G>A r.(?) p.(Trp23*) - pathogenic g.219745786G>A - WNT10A(NM_025216.3):c.69G>A (p.W23*) - WNT10A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 1 c.86T>G r.(?) p.(Leu29Arg) - likely pathogenic (recessive) g.219745803T>G g.218881081T>G - - WNT10A_000033 - PubMed: Bodemer 2019 - - Germline - - - - - Johan den Dunnen
+?/. 1 1 c.92T>A r.(?) p.(Leu31Gln) - likely pathogenic (recessive) g.219745809T>A g.218881087T>A - - WNT10A_000034 - PubMed: Martínez-Romero 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.103_104insGCCTGCT r.(?) p.(Ala35GlyfsTer11) - pathogenic (recessive) g.219745820_219745821insGCCTGCT g.218881098_218881099insGCCTGCT c.103-104insGCCTGCT - WNT10A_000035 - PubMed: Bodemer 2019 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.208C>T r.(?) p.(Arg70Trp) - 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 - - - Mohammed Faruq
?/. 1 - c.212A>T r.(?) p.(Gln71Leu) - 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 - - - - - VKGL-NL_Groningen
+/. 1 2 c.283G>A r.(?) p.(Glu95Lys) - pathogenic g.219747052G>A g.218882330G>A - - WNT10A_000002 - {CVvar:68843} - rs318240759 Germline - - - - - Hans K Ploos van Amstel
+/. 1 2 c.310C>T r.(?) p.(Arg104Cys) - pathogenic (recessive) g.219747079C>T g.218882357C>T - - WNT10A_000036 - PubMed: Bodemer 2019 - - Germline - - - - - Johan den Dunnen
?/. 2 2 c.311G>A r.(?) p.(Arg104His) - 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, Germline - - - - - Hans K Ploos van Amstel, VKGL-NL_Utrecht
+/., +?/. 26 2 c.321C>A r.(?) p.(Cys107*), p.(Cys107Ter) - likely pathogenic (recessive), pathogenic, pathogenic (recessive) 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 {CVvar:4461}, PubMed: Martínez-Romero 2019, PubMed: Prasad 2016 - rs121908119 CLASSIFICATION record, Germline, Germline/De novo (untested) - - - - - Johan den Dunnen, Hans K Ploos van Amstel, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/., ?/. 2 - c.337C>T r.(?) p.(Arg113Cys) - pathogenic, 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.343A>C r.(?) p.(Lys115Gln) - pathogenic g.219747112A>C g.218882390A>C - - WNT10A_000028 - PubMed: Prasad 2016 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 2 - c.347T>C r.(?) p.(Ile116Thr) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/., +?/. 6 3 c.383G>A r.(?) p.(Arg128Gln) - likely pathogenic, pathogenic, pathogenic (dominant) g.219754712G>A g.218889990G>A WNT10A(NM_025216.3):c.383G>A (p.R128Q) - WNT10A_000005 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland {CVvar:4463}, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Prasad 2016 - rs121908121 CLASSIFICATION record, Germline - 1/2794 individuals - - - Johan den Dunnen, Hans K Ploos van Amstel, VKGL-NL_Groningen, VKGL-NL_Utrecht, Mohammed Faruq
+/. 1 - c.416C>T r.(?) p.(Ala139Val) - pathogenic g.219754745C>T g.218890023C>T - - WNT10A_000029 - PubMed: Prasad 2016 - - Germline - - - - - Johan den Dunnen
+/., +?/., ?/. 6 1, 3 c.433G>A r.(?) p.(Val145Met) ACMG likely pathogenic (recessive), pathogenic (recessive), VUS g.219754762G>A g.218890040G>A - - WNT10A_000006 ACMG: PS4, PS3_SUP, PM2_SUP, PM3_SUP, PP3 PubMed: Bodemer 2019 - - Germline yes - - - - Johan den Dunnen, Andreas Laner, Hans K Ploos van Amstel
+?/. 1 - c.443C>T r.(?) p.(Ala148Val) - 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 - - - - - VKGL-NL_Groningen
+?/., ?/. 3 3 c.487C>T r.(?) p.(Arg163Trp) - likely pathogenic, VUS g.219754816C>T g.218890094C>T WNT10A(NM_025216.3):c.487C>T (p.R163W) - WNT10A_000007 VKGL data sharing initiative Nederland - - rs368280129 CLASSIFICATION record, Germline - - - - - Hans K Ploos van Amstel, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/., ?/. 4 - c.493G>A r.(?) p.(Gly165Arg) - likely benign, VUS g.219754822G>A g.218890100G>A WNT10A(NM_025216.3):c.493G>A (p.G165R) - WNT10A_000019 VKGL data sharing initiative Nederland PubMed: Papuc 2019 - rs77583146 CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Anaïs Begemann
?/. 5 - c.511C>T r.(?) p.(Arg171Cys) - 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 PubMed: Papuc 2019 - rs116998555 CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Anaïs Begemann
+/., ?/. 2 2 c.514A>T r.(?) p.(Arg172Trp) - pathogenic (recessive), VUS g.219754843A>T g.218890121A>T WNT10A(NM_025216.3):c.514A>T (p.R172W) - WNT10A_000021 VKGL data sharing initiative Nederland PubMed: Martínez-Romero 2019 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen
+/., -?/. 3 - c.637G>A r.(?) p.(Gly213Ser) - likely benign, pathogenic, pathogenic (dominant) g.219754966G>A g.218890244G>A - - WNT10A_000016 classification based on frequency in 305 unrelated individuals, VKGL data sharing initiative Nederland PubMed: Le 2019, PubMed: Prasad 2016 - - CLASSIFICATION record, Germline, Germline/De novo (untested) - frequency 0.014 - - - Global Variome, with Curator vacancy, Johan den Dunnen, VKGL-NL_Nijmegen
?/. 1 - c.649G>A r.(?) p.(Asp217Asn) - VUS g.219754978G>A g.218890256G>A - - WNT10A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.662G>A r.(?) p.(Gly221Glu) - VUS g.219754991G>A - WNT10A(NM_025216.3):c.662G>A (p.G221E) - WNT10A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., +?/., ?/. 63 3 c.682T>A r.(?) p.(Phe228Ile) - likely pathogenic, pathogenic, pathogenic (dominant), pathogenic (recessive), VUS g.219755011T>A g.218890289T>A WNT10A(NM_025216.2):c.682T>A (p.F228I, p.(Phe228Ile)), WNT10A(NM_025216.3):c.682T>A (p.F228I) - WNT10A_000001 VKGL data sharing initiative Nederland {CVvar:4462}, PubMed: Bodemer 2019, PubMed: Martínez-Romero 2019, PubMed: Prasad 2016 - rs121908120 CLASSIFICATION record, Germline, Germline/De novo (untested) - - - - - Gerard C.P. Schaafsma, Johan den Dunnen, Hans K Ploos van Amstel, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 1 - c.697G>T r.(?) p.(Glu233*) - pathogenic g.219755026G>T g.218890304G>T - - WNT10A_000024 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908118 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. 1 - c.712A>C r.(?) p.(Ile238Leu) - VUS g.219755041A>C - WNT10A(NM_025216.3):c.712A>C (p.I238L) - WNT10A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.725T>G r.(?) p.(Met242Arg) - VUS g.219755054T>G - WNT10A(NM_025216.2):c.725T>G (p.M242R) - WNT10A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., +?/., ?/. 4 4 c.831G>C r.(?) p.(Trp277Cys) - likely pathogenic, pathogenic, VUS g.219757570G>C g.218892848G>C WNT10A(NM_025216.3):c.831G>C (p.W277C) - WNT10A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Hans K Ploos van Amstel, VKGL-NL_Groningen, VKGL-NL_Utrecht
+?/., ?/. 3 4 c.918C>G r.(?) p.(Asn306Lys) - likely pathogenic, VUS g.219757657C>G g.218892935C>G WNT10A(NM_025216.3):c.918C>G (p.N306K) - WNT10A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Hans K Ploos van Amstel, VKGL-NL_Groningen, VKGL-NL_Utrecht
+/. 1 - c.1070C>T r.(?) p.(Thr357Ile) - pathogenic g.219757809C>T g.218893087C>T - - WNT10A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 4 c.1084T>C r.(?) p.(Cys362Arg) - VUS g.219757823T>C g.218893101T>C - - WNT10A_000010 - - - - Germline - - - - - Hans K Ploos van Amstel
+?/. 1 - c.1129T>G r.(?) p.(Cys377Gly) - likely pathogenic g.219757868T>G g.218893146T>G WNT10A(NM_025216.3):c.1129T>G (p.C377G) - WNT10A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 4 c.1131C>A r.(?) p.(Cys377Ter) - pathogenic (recessive) g.219757870C>A g.218893148C>A - - WNT10A_000037 - PubMed: Martínez-Romero 2019 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1145A>G r.(?) p.(Asn382Ser) - VUS g.219757884A>G - - - WNT10A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
Legend   How to query