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Ectodermal Dysplasia (D004476)
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Odontodysplasia (D018126)
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Odontoonychodermal dysplasia (C537742)

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..expandOdontoonychodermal dysplasia (C537742)
..expandSingleton Merten syndrome (C537343)
..expandTrichodental syndrome (C536551)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9070
Name:Odontoonychodermal dysplasia
Definition:
Alternative IDs:OMIM:257980
ParentIDs:MESH:D004476|MESH:D018126
TreeNumbers:C07.650.800.600/C537742 |C07.793.700.600/C537742 |C16.131.077.350/C537742 |C16.131.831.350/C537742 |C16.131.850.800.600/C537742 |C16.320.850.250/C537742 |C17.800.804.350/C537742 |C17.800.827.250/C537742
Synonyms:OODD
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Mouth disease|Skin disease
Reference: MedGen: C537742
MeSH: C537742
OMIM: 257980;
MSeqDR LSDB:  
Genes: JAK2; WNT10A;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0006481Abnormality of primary teethHP:0040284
3 HP:0000951Abnormality of the skin
4 HP:0006349Agenesis of permanent teethHP:0040284
5 HP:0001798Anonychia
6 HP:0011359Dry hair
7 HP:0000958Dry skinHP:0040284
8 HP:0008391Dystrophic fingernails
9 HP:0001810Dystrophic toenailHP:0040284
10 HP:0025092Epidermal acanthosis
11 HP:0010783Erythema
12 HP:0002213Fine hair
13 HP:0000975HyperhidrosisHP:0040284
14 HP:0000668Hypodontia
15 HP:0000966HypohidrosisHP:0040284
16 HP:0002164Nail dysplasia
17 HP:0007410Palmoplantar hyperhidrosis
18 HP:0000613PhotophobiaHP:0040284
19 HP:0007556Plantar hyperkeratosisHP:0040284
20 HP:0010298Smooth tongue
21 HP:0000535Sparse and thin eyebrowHP:0040284
22 HP:0002231Sparse body hairHP:0040284
23 HP:0008070Sparse hair
24 HP:0002209Sparse scalp hairHP:0040284
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_025216.2(WNT10A):c.-433C>G80326WNT10AUncertain significancers886055633RCV000285189|RCV000343676|RCV000381861; NHuman Phenotype Ontology:HP:0001592,MedGen:C1970308|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219745285219745285CGNC_000002.11:g.219745285C>GClinGen:CA10612830C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.2(WNT10A):c.-400T>G80326WNT10ALikely benignrs556182426RCV000302946|RCV000342611|RCV000396361; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|Human Phenotype Ontology:HP:0001592,MedGen:C1970308|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219745318219745318TGNC_000002.11:g.219745318T>GClinGen:CA10614197C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.2(WNT10A):c.-370C>A80326WNT10AUncertain significancers886055634RCV000297679|RCV000336880|RCV000399839; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|Human Phenotype Ontology:HP:0001592,MedGen:C1970308|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219745348219745348CANC_000002.11:g.219745348C>AClinGen:CA10614330C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.2(WNT10A):c.-358G>A80326WNT10AUncertain significancers886055635RCV000276465|RCV000315106|RCV000354814; NHuman Phenotype Ontology:HP:0001592,MedGen:C1970308|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219745360219745360GANC_000002.11:g.219745360G>AClinGen:CA10614331C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.2(WNT10A):c.-341A>G80326WNT10AUncertain significancers762914440RCV000275208|RCV000327931|RCV000367457; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|Human Phenotype Ontology:HP:0001592,MedGen:C1970308|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219745377219745377AGNC_000002.11:g.219745377A>GClinGen:CA10612456C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.2(WNT10A):c.-312C>T80326WNT10ALikely benignrs138370318RCV000269728|RCV000327152|RCV000385171; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|Human Phenotype Ontology:HP:0001592,MedGen:C19703082219745406219745406CTNC_000002.11:g.219745406C>TClinGen:CA10614198C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.2(WNT10A):c.-285C>T80326WNT10AUncertain significancers886055636RCV000287393|RCV000340050|RCV000379484; NHuman Phenotype Ontology:HP:0001592,MedGen:C1970308|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219745433219745433CTNC_000002.11:g.219745433C>TClinGen:CA10612457C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.2(WNT10A):c.-270G>C80326WNT10AUncertain significancers774035749RCV000281436|RCV000334363|RCV000378266; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|Human Phenotype Ontology:HP:0001592,MedGen:C19703082219745448219745448GCNC_000002.11:g.219745448G>CClinGen:CA10614333C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.2(WNT10A):c.-249G>C80326WNT10AUncertain significancers571829301RCV000351817|RCV000313367|RCV000393205; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|Human Phenotype Ontology:HP:0001592,MedGen:C1970308|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219745469219745469GCNC_000002.11:g.219745469G>CClinGen:CA10612459C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.2(WNT10A):c.-203dupC80326WNT10ALikely benignrs561005501RCV000312263|RCV000364629|RCV000393221; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|Human Phenotype Ontology:HP:0001592,MedGen:C19703082219745509219745510AACNC_000002.11:g.219745515dupClinGen:CA10612460C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.2(WNT10A):c.-202G>C80326WNT10AUncertain significancers886055638RCV000310576|RCV000365189|RCV000390295; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|Human Phenotype Ontology:HP:0001592,MedGen:C19703082219745516219745516GCNC_000002.11:g.219745516G>CClinGen:CA10614334C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.2(WNT10A):c.-194dupC80326WNT10AUncertain significancers886055639RCV000265874|RCV000321025|RCV000361608; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|Human Phenotype Ontology:HP:0001592,MedGen:C19703082219745516219745517GGCNC_000002.11:g.219745524dupClinGen:CA10614339C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.2(WNT10A):c.-153G>A80326WNT10AUncertain significancers886055640RCV000266900|RCV000317473|RCV000372076; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|Human Phenotype Ontology:HP:0001592,MedGen:C1970308|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219745565219745565GANC_000002.11:g.219745565G>AClinGen:CA10614340C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.2(WNT10A):c.-149G>T80326WNT10AUncertain significancers886055641RCV000282018|RCV000318400|RCV000386984; NHuman Phenotype Ontology:HP:0001592,MedGen:C1970308|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219745569219745569GTNC_000002.11:g.219745569G>TClinGen:CA10614199C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.-123C>A80326WNT10AUncertain significancers928677784RCV001141276|RCV001143121|RCV001143120; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219745595219745595CA2:g.219745595C>A-
NM_025216.3(WNT10A):c.-70G>C80326WNT10AUncertain significancers1042922024RCV001143122|RCV001143123|RCV001143124; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219745648219745648GC2:g.219745648G>C-
NM_025216.3(WNT10A):c.-17_13del (p.Met1_His5del)80326WNT10ALikely pathogenic-1RCV001378317; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219745697219745726AGCCCGTCAGGGCCTGCGCGCCATGGGCAGCA219745696-
NC_000002.12:g.(?_218880976)_(218893291_?)del80326WNT10APathogenic-1RCV000544262; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219745698219758013nana-C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.1A>T (p.Met1Leu)80326WNT10ALikely pathogenic-1RCV001963872; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219745718219745718AT219745718-
NC_000002.11:g.(?_219745718)_(219757993_?)del80326WNT10APathogenic-1RCV001951408; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219745718219757993nana-1-
NM_025216.3(WNT10A):c.4G>A (p.Gly2Ser)80326WNT10ALikely benignrs533605522RCV000878679|RCV001277356; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219745721219745721GA2:g.219745721G>A-
NM_025216.3(WNT10A):c.7A>T (p.Ser3Cys)80326WNT10AUncertain significance-1RCV002015495; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219745724219745724AT219745724-
NM_025216.3(WNT10A):c.27G>A (p.Trp9Ter)80326WNT10APathogenicrs121908123RCV000004720; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219745744219745744GA2:g.219745744G>AClinGen:CA116871,OMIM:606268.0006C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.36C>T (p.Leu12=)80326WNT10ALikely benign-1RCV001454038; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219745753219745753CT219745753-
NM_025216.3(WNT10A):c.42C>A (p.Pro14=)80326WNT10ALikely benign-1RCV002101905; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219745759219745759CA219745759-
NM_025216.3(WNT10A):c.45G>A (p.Gln15=)80326WNT10ALikely benign-1RCV001404284; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219745762219745762GA219745762-
NM_025216.3(WNT10A):c.55_56dup (p.Pro20fs)80326WNT10APathogenic-1RCV001390604; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219745769219745770CCCG219745769-
NM_025216.3(WNT10A):c.54G>A (p.Pro18=)80326WNT10ALikely benign-1RCV002195330; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219745771219745771GA219745771-
NM_025216.3(WNT10A):c.62C>G (p.Ala21Gly)80326WNT10ALikely benign-1RCV001481787; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219745779219745779CG219745779-
NM_025216.3(WNT10A):c.72G>A (p.Val24=)80326WNT10ALikely benign-1RCV002073848; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219745789219745789GA219745789-
NM_025216.3(WNT10A):c.85del (p.Leu29fs)80326WNT10APathogenic-1RCV001901602; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219745801219745801TCT219745800-
NM_025216.3(WNT10A):c.85C>T (p.Leu29=)80326WNT10ABenignrs115839019RCV000292419|RCV000352267|RCV000554191|RCV000397831; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MON2219745802219745802CTNC_000002.11:g.219745802C>TClinGen:CA2113822C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.88C>T (p.Leu30=)80326WNT10ALikely benign-1RCV002109038; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219745805219745805CT219745805-
NM_025216.3(WNT10A):c.94C>T (p.Leu32=)80326WNT10ALikely benign-1RCV002142913; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219745811219745811CT219745811-
NM_025216.3(WNT10A):c.113+8C>A80326WNT10ALikely benign-1RCV002107255; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219745838219745838CA219745838-
NM_025216.3(WNT10A):c.125A>G (p.Asn42Ser)80326WNT10ALikely benign-1RCV001495286|RCV001826330; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219746894219746894AG219746894-
NM_025216.3(WNT10A):c.135G>T (p.Leu45=)80326WNT10ALikely benign-1RCV001461132; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219746904219746904GT219746904-
NM_025216.3(WNT10A):c.138C>T (p.Asp46=)80326WNT10ALikely benign-1RCV002173721; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219746907219746907CT219746907-
NM_025216.3(WNT10A):c.143dup (p.Leu49fs)80326WNT10APathogenic-1RCV001387393; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219746911219746912CCG219746911-
NM_025216.3(WNT10A):c.149C>T (p.Pro50Leu)80326WNT10AConflicting interpretations of pathogenicityrs199980023RCV000289030|RCV000344076|RCV000397838|RCV000543463; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MO2219746918219746918CTNC_000002.11:g.219746918C>TClinGen:CA2113843C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.150C>A (p.Pro50=)80326WNT10ALikely benign-1RCV001454971; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219746919219746919CA219746919-
NM_025216.3(WNT10A):c.150C>T (p.Pro50=)80326WNT10ALikely benign-1RCV001461911; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219746919219746919CT219746919-
NM_025216.3(WNT10A):c.159C>T (p.Pro53=)80326WNT10ALikely benign-1RCV001398399; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219746928219746928CT219746928-
NM_025216.3(WNT10A):c.166A>G (p.Asn56Asp)80326WNT10AUncertain significancers992196031RCV001136561|RCV001136562|RCV001136563; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219746935219746935AG2:g.219746935A>G-
NM_025216.3(WNT10A):c.168T>C (p.Asn56=)80326WNT10ALikely benign-1RCV001476605; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219746937219746937TC219746937-
NM_025216.3(WNT10A):c.177A>T (p.Thr59=)80326WNT10ALikely benign-1RCV002113303; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219746946219746946AT219746946-
NM_025216.3(WNT10A):c.184C>T (p.Leu62=)80326WNT10ALikely benign-1RCV002214047; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219746953219746953CT219746953-
NM_025216.3(WNT10A):c.186A>G (p.Leu62=)80326WNT10ALikely benign-1RCV002108932; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219746955219746955AG219746955-
NM_025216.3(WNT10A):c.190T>C (p.Leu64=)80326WNT10ALikely benign-1RCV001500983; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219746959219746959TC219746959-
NM_025216.3(WNT10A):c.199C>T (p.Leu67=)80326WNT10ALikely benign-1RCV001498137; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219746968219746968CT219746968-
NM_025216.3(WNT10A):c.201G>A (p.Leu67=)80326WNT10ALikely benign-1RCV001405688; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219746970219746970GA219746970-
NM_025216.3(WNT10A):c.201G>C (p.Leu67=)80326WNT10ALikely benign-1RCV001494653; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219746970219746970GC219746970-
NM_025216.3(WNT10A):c.205C>T (p.Arg69Trp)80326WNT10AUncertain significancers200487809RCV000706597|RCV001825402; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219746974219746974CTNC_000002.11:g.219746974C>T-C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp)80326WNT10AConflicting interpretations of pathogenicityrs146460077RCV000308592|RCV000358786|RCV000401069|RCV000639740|RCV001545215; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MO2219746977219746977CTNC_000002.11:g.219746977C>TClinGen:CA2113858C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.212A>T (p.Gln71Leu)80326WNT10AUncertain significancers368943130RCV000697721; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219746981219746981ATNC_000002.11:g.219746981A>T-C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.216G>T (p.Met72Ile)80326WNT10AUncertain significancers373607885RCV000558141|RCV001829581; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219746985219746985GT2:g.219746985G>TClinGen:CA2113862C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.234C>T (p.His78=)80326WNT10ABenign/Likely benignrs199802454RCV000875071|RCV001138801|RCV001138802|RCV001138803; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MON2219747003219747003CT2:g.219747003C>T-
NM_025216.3(WNT10A):c.267C>A (p.Ile89=)80326WNT10ALikely benignrs1163224121RCV000979069; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219747036219747036CA2:g.219747036C>A-
NM_025216.3(WNT10A):c.273C>T (p.Ile91=)80326WNT10ALikely benignrs1011612159RCV000921029; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219747042219747042CT2:g.219747042C>T-
NM_025216.3(WNT10A):c.273C>A (p.Ile91=)80326WNT10ALikely benign-1RCV001494793; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219747042219747042CA219747042-
NM_025216.3(WNT10A):c.275C>T (p.Ala92Val)80326WNT10AUncertain significancers1553622317RCV000639736; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219747044219747044CT2:g.219747044C>TClinGen:CA350618834C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.276C>T (p.Ala92=)80326WNT10ALikely benign-1RCV002166163; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219747045219747045CT219747045-
NM_025216.3(WNT10A):c.279C>T (p.Ile93=)80326WNT10ALikely benign-1RCV001497722; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219747048219747048CT219747048-
NM_025216.3(WNT10A):c.282C>T (p.His94=)80326WNT10ALikely benign-1RCV001436341; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219747051219747051CT219747051-
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys)80326WNT10AUncertain significancers318240759RCV000059802|RCV000811807|RCV001275113; NMedGen:CN517202|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219747052219747052GANC_000002.11:g.219747052G>AClinGen:CA220083,UniProtKB:Q9GZT5#VAR_069171,UniProtKB/Swiss-Prot:VAR_069171CN517202 not provided;
NM_025216.3(WNT10A):c.288C>T (p.Cys96=)80326WNT10ALikely benign-1RCV002159030; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219747057219747057CT219747057-
NM_025216.3(WNT10A):c.295del (p.Gln99fs)80326WNT10APathogenic-1RCV001382583; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219747063219747063ACA219747062-
NM_025216.3(WNT10A):c.297A>G (p.Gln99=)80326WNT10ALikely benign-1RCV002076839; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219747066219747066AG219747066-
NM_025216.3(WNT10A):c.310C>T (p.Arg104Cys)80326WNT10AConflicting interpretations of pathogenicityrs764658964RCV000639735|RCV001756063; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MedGen:CN5172022219747079219747079CT2:g.219747079C>TClinGen:CA2113875C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.311G>A (p.Arg104His)80326WNT10AConflicting interpretations of pathogenicityrs374910216RCV000782362|RCV001047681|RCV001546388; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MedGen:CN5172022219747080219747080GA2:g.219747080G>A-
NM_025216.3(WNT10A):c.315G>C (p.Trp105Cys)80326WNT10AUncertain significancers886055642RCV000260696|RCV000305206|RCV000359992; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219747084219747084GCNC_000002.11:g.219747084G>CClinGen:CA10612837C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.315G>A (p.Trp105Ter)80326WNT10APathogenic-1RCV001388708; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219747084219747084GA219747084-
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)80326WNT10APathogenicrs121908119RCV000004715|RCV000004716|RCV000030650|RCV000190800|RCV000255732|RCV000477935|RCV000536747|RCV000779308|RCV001729335; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0009773,2219747090219747090CA2:g.219747090C>AClinGen:CA116865,OMIM:606268.0002C0950123 Inborn genetic diseases;
NM_025216.3(WNT10A):c.322T>C (p.Ser108Pro)80326WNT10ALikely pathogenic-1RCV002005566; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219747091219747091TC219747091-
NM_025216.3(WNT10A):c.323C>T (p.Ser108Leu)80326WNT10AUncertain significance-1RCV001980937; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219747092219747092CT219747092-
NM_025216.3(WNT10A):c.327C>T (p.Ser109=)80326WNT10ALikely benign-1RCV001478025; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219747096219747096CT219747096-
NM_025216.3(WNT10A):c.337C>T (p.Arg113Cys)80326WNT10AConflicting interpretations of pathogenicityrs141074983RCV000413047|RCV001080960|RCV000991159; NMedGen:CN517202|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219747106219747106CT2:g.219747106C>TClinGen:CA501169CN517202 not provided;
NM_025216.3(WNT10A):c.348C>T (p.Ile116=)80326WNT10ALikely benign-1RCV001470184; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219747117219747117CT219747117-
NM_025216.3(WNT10A):c.349C>T (p.Pro117Ser)80326WNT10AUncertain significancers144212422RCV000275342|RCV000315891|RCV000356033; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219747118219747118CTNC_000002.11:g.219747118C>TClinGen:CA2113882C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.351C>T (p.Pro117=)80326WNT10ALikely benign-1RCV002143271; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219747120219747120CT219747120-
NM_025216.3(WNT10A):c.354T>A (p.Tyr118Ter)80326WNT10APathogenic-1RCV002037900; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219747123219747123TA219747123-
NM_025216.3(WNT10A):c.363C>T (p.Pro121=)80326WNT10ALikely benign-1RCV001490778; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219747132219747132CT219747132-
NM_025216.3(WNT10A):c.364A>T (p.Ile122Phe)80326WNT10AUncertain significancers201929547RCV001141381|RCV001141383|RCV001141382; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219747133219747133AT2:g.219747133A>T-
NM_025216.3(WNT10A):c.372C>T (p.Ser124=)80326WNT10ALikely benign-1RCV001431190; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219747141219747141CT219747141-
NM_025216.3(WNT10A):c.376+1G>A80326WNT10APathogenicrs561503117RCV001205643|RCV001828648|RCV001780113; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MedGen:CN5172022219747146219747146GA2:g.219747146G>A-
NM_025216.3(WNT10A):c.376+9C>T80326WNT10ALikely benign-1RCV002137696; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219747154219747154CT219747154-
NM_025216.3(WNT10A):c.377-11T>C80326WNT10AUncertain significancers369995297RCV001141384|RCV001141385|RCV001141386; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754695219754695TC2:g.219754695T>C-
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter)80326WNT10APathogenic/Likely pathogenicrs762739726RCV000551493|RCV000763071|RCV000760328|RCV001829582; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944; MON2219754711219754711CT2:g.219754711C>TClinGen:CA2113906C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)80326WNT10APathogenic/Likely pathogenicrs121908121RCV000004718|RCV000030651|RCV000059803|RCV000824631; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MedGen:CN517202|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400,Or2219754712219754712GANC_000002.11:g.219754712G>AClinGen:CA116868,UniProtKB:Q9GZT5#VAR_062510,UniProtKB/Swiss-Prot:VAR_062510,OMIM:606268.0004CN517202 not provided;
NM_025216.3(WNT10A):c.390C>T (p.Ser130=)80326WNT10ALikely benignrs201002930RCV000936334; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754719219754719CT2:g.219754719C>T-
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr)80326WNT10APathogenic/Likely pathogenicrs372993798RCV000254796|RCV000804067|RCV001814131; NMedGen:CN517202|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750,O2219754720219754720GANC_000002.11:g.219754720G>AClinGen:CA2113909,UniProtKB:Q9GZT5#VAR_077447CN517202 not provided;
NM_025216.3(WNT10A):c.402C>T (p.Tyr134=)80326WNT10ALikely benign-1RCV001449215; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754731219754731CT219754731-
NM_025216.3(WNT10A):c.403G>A (p.Ala135Thr)80326WNT10AUncertain significancers1402990329RCV000696391|RCV001830529; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219754732219754732GANC_000002.11:g.219754732G>A-C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.408C>G (p.Ile136Met)80326WNT10ALikely benign-1RCV001430053; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754737219754737CG219754737-
NM_025216.3(WNT10A):c.408C>T (p.Ile136=)80326WNT10ALikely benign-1RCV002202098; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754737219754737CT219754737-
NM_025216.3(WNT10A):c.420C>T (p.Gly140=)80326WNT10ALikely benignrs148979463RCV000295107|RCV000330331|RCV000389567|RCV001447441; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|Human Phenotype Ontology:HP:0001592,MedGen:C1970308|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:02219754749219754749CT2:g.219754749C>TClinGen:CA2113920C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.420C>A (p.Gly140=)80326WNT10ALikely benign-1RCV001414178; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754749219754749CA219754749-
NM_025216.3(WNT10A):c.423G>C (p.Val141=)80326WNT10ALikely benign-1RCV001481110; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754752219754752GC219754752-
NM_025216.3(WNT10A):c.427C>T (p.His143Tyr)80326WNT10AUncertain significancers202024965RCV001248684|RCV001830048; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219754756219754756CT2:g.219754756C>T-
NM_025216.3(WNT10A):c.429C>T (p.His143=)80326WNT10ALikely benignrs747642854RCV000896962|RCV001503184|RCV001830957; NMedGen:CN517202|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219754758219754758CT2:g.219754758C>T-
NM_025216.3(WNT10A):c.432C>T (p.Ala144=)80326WNT10ALikely benign-1RCV001438636; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754761219754761CT219754761-
NM_025216.3(WNT10A):c.433G>A (p.Val145Met)80326WNT10AUncertain significancers543063101RCV000525525|RCV001275114; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219754762219754762GA2:g.219754762G>AClinGen:CA2113928C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.437C>G (p.Ser146Cys)80326WNT10AUncertain significancers759718991RCV000291690|RCV000326647|RCV000381373; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754766219754766CG2:g.219754766C>GClinGen:CA2113931C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.438C>T (p.Ser146=)80326WNT10ALikely benign-1RCV001466091; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754767219754767CT219754767-
NM_025216.3(WNT10A):c.443C>T (p.Ala148Val)80326WNT10AUncertain significancers373695499RCV001143233|RCV001143234|RCV001143235; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754772219754772CT2:g.219754772C>T-
NM_025216.3(WNT10A):c.444G>A (p.Ala148=)80326WNT10ALikely benignrs147145554RCV000919702|RCV001271493; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219754773219754773GA2:g.219754773G>A-
NM_025216.3(WNT10A):c.444G>C (p.Ala148=)80326WNT10ALikely benign-1RCV002149566; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754773219754773GC219754773-
NM_025216.3(WNT10A):c.450C>A (p.Ala150=)80326WNT10ALikely benign-1RCV002076085; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754779219754779CA219754779-
NM_025216.3(WNT10A):c.456C>T (p.Gly152=)80326WNT10AUncertain significance-1RCV001986530; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754785219754785CT219754785-
NM_025216.3(WNT10A):c.465G>A (p.Lys155=)80326WNT10ALikely benign-1RCV001431709; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754794219754794GA219754794-
NM_025216.3(WNT10A):c.468C>T (p.Ala156=)80326WNT10ALikely benign-1RCV002080904; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754797219754797CT219754797-
NM_025216.3(WNT10A):c.474C>T (p.Gly158=)80326WNT10ALikely benign-1RCV002089634; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754803219754803CT219754803-
NM_025216.3(WNT10A):c.477T>C (p.Cys159=)80326WNT10ALikely benign-1RCV001426717; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754806219754806TC219754806-
NM_025216.3(WNT10A):c.483G>C (p.Ala161=)80326WNT10AConflicting interpretations of pathogenicityrs200751156RCV001136662|RCV001143236|RCV001143237|RCV001403230; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MON2219754812219754812GC2:g.219754812G>C-
NM_025216.3(WNT10A):c.483G>A (p.Ala161=)80326WNT10ALikely benign-1RCV002097865; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754812219754812GA219754812-
NM_025216.3(WNT10A):c.495_502dup (p.Glu168fs)80326WNT10APathogenic-1RCV001386230; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754818219754819GGCGAGGGGA219754818-
NM_025216.3(WNT10A):c.489G>A (p.Arg163=)80326WNT10ALikely benign-1RCV002075596; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754818219754818GA219754818-
NM_025216.3(WNT10A):c.490C>T (p.Arg164Ter)80326WNT10APathogenic-1RCV001388812; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754819219754819CT219754819-
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg)80326WNT10AConflicting interpretations of pathogenicityrs77583146RCV000283655|RCV000346906|RCV000521785|RCV000406139|RCV000845116|RCV001083663; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MedGen:CN517202|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|Human Phenotype Ontology:HP:0009804,MedGen:C402422219754822219754822GANC_000002.11:g.219754822G>AClinGen:CA2113950CN169374 not specified;
NM_025216.3(WNT10A):c.495G>C (p.Gly165=)80326WNT10ALikely benignrs1575233486RCV000932949|RCV001492338; NMedGen:CN517202|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754824219754824GC2:g.219754824G>C-
NM_025216.3(WNT10A):c.498C>T (p.Asp166=)80326WNT10AConflicting interpretations of pathogenicityrs143463683RCV000299178|RCV000343294|RCV000396407|RCV001488558; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MO2219754827219754827CT2:g.219754827C>TClinGen:CA2113951C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys)80326WNT10AConflicting interpretations of pathogenicityrs116998555RCV000255246|RCV000299227|RCV000335291|RCV000396415|RCV000490286; NMedGen:CN517202|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980,O2219754840219754840CT2:g.219754840C>TClinGen:CA2113955,UniProtKB:Q9GZT5#VAR_077449CN517202 not provided;
NM_025216.3(WNT10A):c.512G>A (p.Arg171His)80326WNT10ALikely benignrs199737793RCV000878034|RCV001825777; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219754841219754841GA2:g.219754841G>A-
NM_025216.3(WNT10A):c.514A>T (p.Arg172Trp)80326WNT10ALikely benign-1RCV001488387; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754843219754843AT219754843-
NM_025216.3(WNT10A):c.519G>T (p.Lys173Asn)80326WNT10AUncertain significancers758023820RCV001346367|RCV001825929; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219754848219754848GT219754848-
NM_025216.3(WNT10A):c.525C>T (p.His175=)80326WNT10ALikely benign-1RCV001424012; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754854219754854CT219754854-
NM_025216.3(WNT10A):c.526C>T (p.Arg176Cys)80326WNT10AUncertain significancers754010310RCV001138902|RCV001138903|RCV001138904; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219754855219754855CT2:g.219754855C>T-
NM_025216.3(WNT10A):c.532_536del (p.Gln178fs)80326WNT10APathogenic-1RCV001929713; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754861219754865ACAACTA219754860-
NM_025216.3(WNT10A):c.534A>G (p.Gln178=)80326WNT10ABenign/Likely benignrs746227205RCV000875526|RCV001141501|RCV001141502|RCV001141500; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MO2219754863219754863AG2:g.219754863A>G-
NM_025216.3(WNT10A):c.540T>C (p.Asp180=)80326WNT10ALikely benign-1RCV002113694; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754869219754869TC219754869-
NM_025216.3(WNT10A):c.544C>T (p.Leu182=)80326WNT10ALikely benign-1RCV001403334; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754873219754873CT219754873-
NM_025216.3(WNT10A):c.551G>A (p.Arg184His)80326WNT10AUncertain significancers372756514RCV000273430|RCV000314527|RCV000367917; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754880219754880GA2:g.219754880G>AClinGen:CA2113967C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.554G>A (p.Gly185Asp)80326WNT10AUncertain significancers1458852116RCV000801132; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754883219754883GA2:g.219754883G>A-
NM_025216.3(WNT10A):c.555T>C (p.Gly185=)80326WNT10ALikely benign-1RCV001424621; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754884219754884TC219754884-
NM_025216.3(WNT10A):c.558G>A (p.Lys186=)80326WNT10ALikely benign-1RCV002210675; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754887219754887GA219754887-
NM_025216.3(WNT10A):c.561C>T (p.Gly187=)80326WNT10ALikely benign-1RCV001467558; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754890219754890CT219754890-
NM_025216.3(WNT10A):c.567C>T (p.Ser189=)80326WNT10ALikely benign-1RCV001433403; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754896219754896CT219754896-
NM_025216.3(WNT10A):c.570T>C (p.His190=)80326WNT10ALikely benignrs1391189104RCV000932204|RCV001476023; NMedGen:CN517202|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754899219754899TC2:g.219754899T>C-
NM_025216.3(WNT10A):c.576C>T (p.Val192=)80326WNT10ALikely benign-1RCV001455168; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754905219754905CT219754905-
NM_025216.3(WNT10A):c.580del (p.Glu194fs)80326WNT10APathogenic-1RCV001923484; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754908219754908CGC219754907-
NM_025216.3(WNT10A):c.591C>T (p.Ala197=)80326WNT10ABenignrs367808568RCV000915837|RCV001836012; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219754920219754920CT2:g.219754920C>T-
NM_025216.3(WNT10A):c.594G>A (p.Leu198=)80326WNT10ALikely benign-1RCV001467817; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754923219754923GA219754923-
NM_025216.3(WNT10A):c.606C>T (p.Ser202=)80326WNT10ALikely benign-1RCV001492777; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754935219754935CT219754935-
NM_025216.3(WNT10A):c.609A>G (p.Pro203=)80326WNT10ALikely benign-1RCV001439413; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754938219754938AG219754938-
NM_025216.3(WNT10A):c.613C>T (p.Leu205=)80326WNT10ALikely benign-1RCV002082237; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754942219754942CT219754942-
NM_025216.3(WNT10A):c.616C>T (p.Gln206Ter)80326WNT10ALikely pathogenicrs1060499588RCV000477883; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219754945219754945CT2:g.219754945C>TClinGen:CA16616901C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.623C>T (p.Ser208Phe)80326WNT10AUncertain significance-1RCV001898571; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754952219754952CT219754952-
NM_025216.3(WNT10A):c.627G>A (p.Trp209Ter)80326WNT10APathogenic-1RCV002002481; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754956219754956GA219754956-
NM_025216.3(WNT10A):c.632G>A (p.Trp211Ter)80326WNT10APathogenicrs1156948793RCV001211943; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754961219754961GA2:g.219754961G>A-
NM_025216.3(WNT10A):c.636C>T (p.Gly212=)80326WNT10ALikely benign-1RCV001414842; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754965219754965CT219754965-
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser)80326WNT10AConflicting interpretations of pathogenicityrs147680216RCV000128463|RCV000270809|RCV000325824|RCV000490390|RCV000845115|RCV001555273; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MON2219754966219754966GANC_000002.11:g.219754966G>AClinGen:CA211313,UniProtKB:Q9GZT5#VAR_077450,OMIM:606268.0009C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.642C>T (p.Cys214=)80326WNT10ALikely benignrs1220459716RCV000979053; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754971219754971CT2:g.219754971C>T-
NM_025216.3(WNT10A):c.648del (p.Asp217fs)80326WNT10APathogenic-1RCV001382570; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754974219754974GCG219754973-
NM_025216.3(WNT10A):c.645C>T (p.Ser215=)80326WNT10ALikely benign-1RCV002200510; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754974219754974CT219754974-
NM_025216.3(WNT10A):c.648C>T (p.Pro216=)80326WNT10ALikely benign-1RCV001485117; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754977219754977CT219754977-
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn)80326WNT10ALikely benignrs146902156RCV000023530|RCV000059804|RCV000271824|RCV000322248; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MedGen:CN517202|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754978219754978GA2:g.219754978G>AClinGen:CA211283,UniProtKB:Q9GZT5#VAR_069173,UniProtKB/Swiss-Prot:VAR_069173,OMIM:606268.0007CN517202 not provided;
NM_025216.3(WNT10A):c.652A>G (p.Met218Val)80326WNT10AUncertain significancers373991357RCV000287049|RCV000341862|RCV000376761|RCV001814148; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MedGen:CN5172022219754981219754981AG2:g.219754981A>GClinGen:CA2113987C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.653T>G (p.Met218Arg)80326WNT10AUncertain significancers759559158RCV001136765|RCV001136766|RCV001143338; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754982219754982TG2:g.219754982T>G-
NM_025216.3(WNT10A):c.660C>T (p.Phe220=)80326WNT10ALikely benignrs765046353RCV000872013|RCV001271494; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219754989219754989CT2:g.219754989C>T-
NM_025216.3(WNT10A):c.661G>A (p.Gly221Arg)80326WNT10AConflicting interpretations of pathogenicityrs775380022RCV000489933|RCV001037834; NMedGen:CN517202|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754990219754990GA2:g.219754990G>AClinGen:CA2113990CN517202 not provided;
NM_025216.3(WNT10A):c.664G>A (p.Glu222Lys)80326WNT10AUncertain significancers377416834RCV001136768|RCV001136767|RCV001136769; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754993219754993GA2:g.219754993G>A-
NM_025216.3(WNT10A):c.664G>T (p.Glu222Ter)80326WNT10APathogenicrs377416834RCV001204324; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754993219754993GT2:g.219754993G>T-
NM_025216.3(WNT10A):c.667C>T (p.Arg223Cys)80326WNT10AUncertain significancers149245953RCV000415098|RCV000528997|RCV001828389; NHuman Phenotype Ontology:HP:0002829,MedGen:C0003862; Human Phenotype Ontology:HP:0000982,MedGen:C4551675; Human Phenotype Ontology:HP:0030053,MedGen:C3276815|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C18354922219754996219754996CT2:g.219754996C>TClinGen:CA2113993C0003862 Arthralgia;
NM_025216.3(WNT10A):c.668G>A (p.Arg223His)80326WNT10AUncertain significancers143424659RCV001136770|RCV001136771|RCV001136772; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219754997219754997GA2:g.219754997G>A-
NM_025216.3(WNT10A):c.670T>C (p.Phe224Leu)80326WNT10AUncertain significance-1RCV001992375; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219754999219754999TC219754999-
NM_025216.3(WNT10A):c.681C>T (p.Asp227=)80326WNT10ALikely benign-1RCV002196636; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219755010219755010CT219755010-
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)80326WNT10AConflicting interpretations of pathogenicityrs121908120RCV000004717|RCV000278695|RCV000255788|RCV000445356|RCV000455454|RCV000622932|RCV000550721|RCV000754840|RCV000845113|RCV001729336|RCV001535660|RCV001813948; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MedGen:CN517202|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MOND2219755011219755011TANC_000002.11:g.219755011T>AClinGen:CA116867,UniProtKB:Q9GZT5#VAR_062511,OMIM:606268.0003C0950123 Inborn genetic diseases;
NM_025216.3(WNT10A):c.690C>T (p.Asp230=)80326WNT10ALikely benign-1RCV001453905; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219755019219755019CT219755019-
NM_025216.3(WNT10A):c.694del (p.Arg232fs)80326WNT10APathogenicrs1575233692RCV000792132|RCV001784406; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MedGen:CN5172022219755021219755021TCT2:g.219755021_219755021del-
NM_025216.3(WNT10A):c.694C>T (p.Arg232Trp)80326WNT10AUncertain significancers193098360RCV001139006|RCV001139004|RCV001139005; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219755023219755023CT2:g.219755023C>T-
NM_025216.3(WNT10A):c.695G>A (p.Arg232Gln)80326WNT10AUncertain significancers772154760RCV000706483|RCV001825399; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219755024219755024GANC_000002.11:g.219755024G>A-C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.697G>T (p.Glu233Ter)80326WNT10APathogenicrs121908118RCV000004714|RCV001851651; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219755026219755026GT2:g.219755026G>TClinGen:CA116863,OMIM:606268.0001C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.697G>A (p.Glu233Lys)80326WNT10AConflicting interpretations of pathogenicityrs121908118RCV001139007|RCV001139008|RCV001141617|RCV001856783; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MON2219755026219755026GA2:g.219755026G>A-
NM_025216.3(WNT10A):c.705C>T (p.His235=)80326WNT10ALikely benignrs1575233706RCV000941013|RCV001409139; NMedGen:CN517202|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219755034219755034CT2:g.219755034C>T-
NM_025216.3(WNT10A):c.717del (p.His239fs)80326WNT10APathogenicrs1944636041RCV001044079; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219755046219755046ACA2:g.219755046_219755046del-
NM_025216.3(WNT10A):c.717C>T (p.His239=)80326WNT10ALikely benign-1RCV001393279; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219755046219755046CT219755046-
NM_025216.3(WNT10A):c.719C>T (p.Ala240Val)80326WNT10AConflicting interpretations of pathogenicityrs201578578RCV001141618|RCV001141619|RCV001141620|RCV001487964; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MON2219755048219755048CT2:g.219755048C>T-
NM_025216.3(WNT10A):c.720G>A (p.Ala240=)80326WNT10ALikely benign-1RCV001491124; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219755049219755049GA219755049-
NM_025216.3(WNT10A):c.732T>G (p.Leu244=)80326WNT10ALikely benignrs753071577RCV000898957; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219755061219755061TG2:g.219755061T>G-
NM_025216.3(WNT10A):c.738C>T (p.Asn246=)80326WNT10ALikely benign-1RCV001453822; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219755067219755067CT219755067-
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter)80326WNT10APathogenicrs886039453RCV000254848|RCV000677100|RCV000823047|RCV001266421|RCV001275115; NMedGen:CN517202|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009145,M2219755071219755071CTNC_000002.11:g.219755071C>TClinGen:CA10588338,OMIM:606268.0011CN517202 not provided;
NM_025216.3(WNT10A):c.744A>G (p.Arg248=)80326WNT10ALikely benignrs1282187686RCV000931052|RCV001465383; NMedGen:CN517202|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219755073219755073AG2:g.219755073A>G-
NM_025216.3(WNT10A):c.745G>A (p.Val249Ile)80326WNT10ALikely benign-1RCV001435834|RCV001826250; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219755074219755074GA219755074-
NM_025216.3(WNT10A):c.756G>A (p.Gln252=)80326WNT10AUncertain significancers768536054RCV000817424; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219755085219755085GA2:g.219755085G>A-
NM_025216.3(WNT10A):c.756+1G>A80326WNT10APathogenicrs1944637150RCV001194666; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219755086219755086GA2:g.219755086G>AOMIM:606268.0010
NM_025216.3(WNT10A):c.756+7G>A80326WNT10ALikely benign-1RCV001496914; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219755092219755092GA219755092-
NM_025216.3(WNT10A):c.756+9C>A80326WNT10ALikely benign-1RCV002098304; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219755094219755094CA219755094-
NM_025216.3(WNT10A):c.756+13C>A80326WNT10AUncertain significancers745958462RCV000311299|RCV000352056|RCV000394128; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219755098219755098CA2:g.219755098C>AClinGen:CA10612472C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.756+14C>T80326WNT10AUncertain significancers200733269RCV000307935|RCV000362680|RCV000394115; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219755099219755099CT2:g.219755099C>TClinGen:CA2114027C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.757-6C>T80326WNT10ALikely benign-1RCV001488623; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757490219757490CT219757490-
NM_025216.3(WNT10A):c.771C>T (p.Asn257=)80326WNT10ALikely benignrs1411583565RCV000932718; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757510219757510CT2:g.219757510C>T-
NM_025216.3(WNT10A):c.775C>A (p.Arg259=)80326WNT10ALikely benign-1RCV001429167|RCV001831485; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757514219757514CA219757514-
NM_025216.3(WNT10A):c.777G>T (p.Arg259=)80326WNT10ALikely benign-1RCV002140367; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757516219757516GT219757516-
NM_025216.3(WNT10A):c.791G>T (p.Cys264Phe)80326WNT10AUncertain significancers1944669118RCV001068439; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757530219757530GT2:g.219757530G>T-
NM_025216.3(WNT10A):c.796G>A (p.Gly266Ser)80326WNT10AUncertain significancers778752861RCV001239932|RCV001834106; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757535219757535GA2:g.219757535G>A-
NM_025216.3(WNT10A):c.801G>C (p.Thr267=)80326WNT10ALikely benignrs553058408RCV000639739; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757540219757540GC2:g.219757540G>CClinGen:CA2114046C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.801G>A (p.Thr267=)80326WNT10ALikely benignrs553058408RCV000945611|RCV001277357; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757540219757540GA2:g.219757540G>A-
NM_025216.3(WNT10A):c.803C>G (p.Ser268Ter)80326WNT10APathogenicrs886039454RCV000255393|RCV001855007; NMedGen:CN517202|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757542219757542CG2:g.219757542C>GClinGen:CA10588339CN517202 not provided;
NM_025216.3(WNT10A):c.813C>T (p.Cys271=)80326WNT10ALikely benign-1RCV001440081; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757552219757552CT219757552-
NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter)80326WNT10APathogenicrs773036759RCV001044035|RCV001784592; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MedGen:CN5172022219757553219757553CT2:g.219757553C>T-
NM_025216.3(WNT10A):c.816G>A (p.Gln272=)80326WNT10ALikely benign-1RCV001420037; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757555219757555GA219757555-
NM_025216.3(WNT10A):c.817C>A (p.Leu273Ile)80326WNT10ABenignrs111903177RCV000272729|RCV000309072|RCV000358737|RCV000539438; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MO2219757556219757556CA2:g.219757556C>AClinGen:CA2114048C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.825G>T (p.Thr275=)80326WNT10ALikely benignrs776303684RCV000977646|RCV001443633; NMedGen:CN517202|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757564219757564GT2:g.219757564G>T-
NM_025216.3(WNT10A):c.826T>A (p.Cys276Ser)80326WNT10APathogenicrs1011303295RCV000677102; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757565219757565TA2:g.219757565T>AOMIM:606268.0012C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.830G>A (p.Trp277Ter)80326WNT10APathogenicrs1332945612RCV001228664; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757569219757569GA2:g.219757569G>A-
NM_025216.3(WNT10A):c.831G>T (p.Trp277Cys)80326WNT10AUncertain significancers1234227647RCV000639738|RCV001829792; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757570219757570GT2:g.219757570G>TClinGen:CA350589733C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.832C>T (p.Gln278Ter)80326WNT10APathogenic-1RCV001387650; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757571219757571CT219757571-
NM_025216.3(WNT10A):c.838A>T (p.Thr280Ser)80326WNT10AUncertain significancers886055643RCV000263980|RCV000323835|RCV000378470; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757577219757577AT2:g.219757577A>TClinGen:CA10614350C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.841C>G (p.Pro281Ala)80326WNT10AUncertain significancers541715493RCV000280724|RCV000350216|RCV000386136; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757580219757580CG2:g.219757580C>GClinGen:CA2114053C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.841C>A (p.Pro281Thr)80326WNT10AUncertain significancers541715493RCV000260783|RCV000315988|RCV000375200|RCV000623795; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MeSH:D030342,MedGen:C09501232219757580219757580CA2:g.219757580C>AClinGen:CA2114052C0950123 Inborn genetic diseases;
NM_025216.3(WNT10A):c.843C>T (p.Pro281=)80326WNT10ALikely benign-1RCV002170763; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757582219757582CT219757582-
NM_025216.3(WNT10A):c.847_851del (p.Phe283fs)80326WNT10APathogenic-1RCV001389202; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757585219757589AGTTCCA219757584-
NM_025216.3(WNT10A):c.855C>T (p.Thr285=)80326WNT10ALikely benign-1RCV001434661; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757594219757594CT219757594-
NM_025216.3(WNT10A):c.855C>A (p.Thr285=)80326WNT10ALikely benign-1RCV002081689; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757594219757594CA219757594-
NM_025216.3(WNT10A):c.874A>G (p.Ser292Gly)80326WNT10ALikely benignrs767665930RCV000945473|RCV001275116; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757613219757613AG2:g.219757613A>G-
NM_025216.3(WNT10A):c.891C>G (p.Ala297=)80326WNT10ALikely benignrs748083299RCV000977988|RCV001836048; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757630219757630CG2:g.219757630C>G-
NM_025216.3(WNT10A):c.891C>A (p.Ala297=)80326WNT10ALikely benign-1RCV002083404; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757630219757630CA219757630-
NM_025216.3(WNT10A):c.898_899del (p.Ile300fs)80326WNT10APathogenicrs1553623281RCV000677101; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757637219757638CATC2:g.219757637_219757638del-C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.903_906del (p.Pro302fs)80326WNT10AUncertain significancers1371718238RCV000686716; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757639219757642TCCGGTNC_000002.11:g.219757642_219757645del-C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.902G>C (p.Arg301Pro)80326WNT10ALikely benign-1RCV001443172; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757641219757641GC219757641-
NM_025216.3(WNT10A):c.909_916del (p.His303fs)80326WNT10APathogenicrs1944671913RCV001047325; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757643219757650GCCGCACAAG2:g.219757643_219757650del-
NM_025216.3(WNT10A):c.906G>T (p.Pro302=)80326WNT10ALikely benignrs898393511RCV000929178|RCV001493973; NMedGen:CN517202|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757645219757645GT2:g.219757645G>T-
NM_025216.3(WNT10A):c.906G>A (p.Pro302=)80326WNT10ALikely benign-1RCV001412633; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757645219757645GA219757645-
NM_025216.3(WNT10A):c.910A>C (p.Asn304His)80326WNT10AUncertain significancers1434390821RCV000639737|RCV001835029; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757649219757649AC2:g.219757649A>CClinGen:CA350590125C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.914G>A (p.Arg305His)80326WNT10AUncertain significancers746769946RCV001244885|RCV001835217; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757653219757653GA2:g.219757653G>A-
NM_025216.3(WNT10A):c.914G>T (p.Arg305Leu)80326WNT10AUncertain significance-1RCV001925868; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757653219757653GT219757653-
NM_025216.3(WNT10A):c.918C>G (p.Asn306Lys)80326WNT10ALikely benignrs745513263RCV000296501|RCV000351358|RCV000390691|RCV000887474; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MO2219757657219757657CG2:g.219757657C>GClinGen:CA2114070,UniProtKB:Q9GZT5#VAR_069175C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.930G>A (p.Leu310=)80326WNT10ALikely benign-1RCV002195784; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757669219757669GA219757669-
NM_025216.3(WNT10A):c.932dup (p.Pro312fs)80326WNT10APathogenic-1RCV001389023; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757670219757671GGA219757670-
NM_025216.3(WNT10A):c.932del (p.Glu311fs)80326WNT10APathogenic-1RCV001386374; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757671219757671GAG219757670-
NM_025216.3(WNT10A):c.936G>A (p.Pro312=)80326WNT10ALikely benign-1RCV001452872; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757675219757675GA219757675-
NM_025216.3(WNT10A):c.939C>T (p.Gly313=)80326WNT10ALikely benign-1RCV001483042; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757678219757678CT219757678-
NM_025216.3(WNT10A):c.942A>G (p.Pro314=)80326WNT10ALikely benign-1RCV002096827; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757681219757681AG219757681-
NM_025216.3(WNT10A):c.949dup (p.Ala317fs)80326WNT10APathogenicrs775990266RCV000818549; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757683219757684CCG2:g.219757683_219757684insG-
NM_025216.3(WNT10A):c.949del (p.Ala317fs)80326WNT10APathogenic/Likely pathogenicrs775990266RCV000677103|RCV001868287; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757684219757684CGC2:g.219757684_219757684delOMIM:606268.0013C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.951A>G (p.Ala317=)80326WNT10ALikely benign-1RCV002171764; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757690219757690AG219757690-
NM_025216.3(WNT10A):c.957G>T (p.Ser319=)80326WNT10ALikely benignrs774589067RCV000981375|RCV001832284; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757696219757696GT2:g.219757696G>T-
NM_025216.3(WNT10A):c.959C>G (p.Pro320Arg)80326WNT10AUncertain significancers974508350RCV000705093; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757698219757698CGNC_000002.11:g.219757698C>G-C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.966G>C (p.Pro322=)80326WNT10ALikely benign-1RCV001405080|RCV001826205; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757705219757705GC219757705-
NM_025216.3(WNT10A):c.969C>A (p.Gly323=)80326WNT10ALikely benignrs1472729942RCV000934231|RCV001467606; NMedGen:CN517202|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757708219757708CA2:g.219757708C>A-
NM_025216.3(WNT10A):c.987_989dup (p.Arg330dup)80326WNT10AUncertain significancers1416466883RCV000703069|RCV001825386; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757723219757724CCCGANC_000002.11:g.219757726_219757728dup-C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.990_1003dup (p.Asp335fs)80326WNT10APathogenic-1RCV001384812; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757726219757727AACGGGCCAGCCCCGC219757726-
NM_025216.3(WNT10A):c.993del (p.Ser332fs)80326WNT10APathogenic-1RCV001387962; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757731219757731GCG219757730-
NM_025216.3(WNT10A):c.999C>G (p.Pro333=)80326WNT10ALikely benign-1RCV001503897; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757738219757738CG219757738-
NM_025216.3(WNT10A):c.1002C>T (p.Ala334=)80326WNT10ALikely benign-1RCV001457933; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757741219757741CT219757741-
NM_025216.3(WNT10A):c.1003G>A (p.Asp335Asn)80326WNT10ABenign/Likely benignrs545956598RCV000288085|RCV000347757|RCV000397812|RCV000876005; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MO2219757742219757742GA2:g.219757742G>AClinGen:CA2114088C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.1005C>T (p.Asp335=)80326WNT10ALikely benignrs779449131RCV000940498|RCV001832146; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757744219757744CT2:g.219757744C>T-
NM_025216.3(WNT10A):c.1006C>T (p.Leu336=)80326WNT10ALikely benign-1RCV002087139; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757745219757745CT219757745-
NM_025216.3(WNT10A):c.1011C>A (p.Val337=)80326WNT10ALikely benign-1RCV002079331; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757750219757750CA219757750-
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=)80326WNT10AConflicting interpretations of pathogenicityrs531326479RCV000303716|RCV000358475|RCV000400970|RCV000873083; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MO2219757756219757756CT2:g.219757756C>TClinGen:CA2114092C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.1023G>A (p.Lys341=)80326WNT10ALikely benign-1RCV002162769; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757762219757762GA219757762-
NM_025216.3(WNT10A):c.1028C>T (p.Pro343Leu)80326WNT10AUncertain significance-1RCV001910291; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757767219757767CT219757767-
NM_025216.3(WNT10A):c.1034T>C (p.Phe345Ser)80326WNT10AUncertain significancers1553623335RCV000559209; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757773219757773TC2:g.219757773T>CClinGen:CA350590806C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.1035C>A (p.Phe345Leu)80326WNT10AUncertain significancers1944675395RCV001139115|RCV001141723|RCV001141724; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757774219757774CA2:g.219757774C>A-
NM_025216.3(WNT10A):c.1044C>G (p.Arg348=)80326WNT10ALikely benignrs760909396RCV000944939|RCV001468079; NMedGen:CN517202|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757783219757783CG2:g.219757783C>G-
NM_025216.3(WNT10A):c.1044C>A (p.Arg348=)80326WNT10ALikely benign-1RCV001437817; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757783219757783CA219757783-
NM_025216.3(WNT10A):c.1047G>A (p.Glu349=)80326WNT10ALikely benign-1RCV001446372; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757786219757786GA219757786-
NM_025216.3(WNT10A):c.1049C>T (p.Pro350Leu)80326WNT10AUncertain significancers564146190RCV000260245|RCV000304817|RCV000355122; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757788219757788CTNC_000002.11:g.219757788C>TClinGen:CA10612838C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.1050G>T (p.Pro350=)80326WNT10ALikely benign-1RCV002166863; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757789219757789GT219757789-
NM_025216.3(WNT10A):c.1061C>T (p.Ser354Leu)80326WNT10AUncertain significancers781178898RCV000273350|RCV000320197|RCV000356293; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757800219757800CTNC_000002.11:g.219757800C>TClinGen:CA2114104C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.1063del (p.Ala355fs)80326WNT10APathogenic-1RCV001956186; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757801219757801CGC219757800-
NM_025216.3(WNT10A):c.1079G>T (p.Arg360Leu)80326WNT10AUncertain significancers893127185RCV000810581; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757818219757818GT2:g.219757818G>T-
NM_025216.3(WNT10A):c.1079G>C (p.Arg360Pro)80326WNT10ALikely pathogenicrs893127185RCV001069353; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757818219757818GC2:g.219757818G>C-
NM_025216.3(WNT10A):c.1084T>C (p.Cys362Arg)80326WNT10ALikely pathogenicrs1268725013RCV000498719|RCV001379319; NMedGen:CN517202|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757823219757823TC2:g.219757823T>CClinGen:CA350591255CN517202 not provided;
NM_025216.3(WNT10A):c.1085G>T (p.Cys362Phe)80326WNT10AUncertain significancers1575235098RCV000795841; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757824219757824GT2:g.219757824G>T-
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His)80326WNT10AConflicting interpretations of pathogenicityrs34972707RCV000288484|RCV000333165|RCV000387692|RCV000414053|RCV000845114|RCV001082463; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MedGen:CN517202|Human Phenotype Ontology:HP:0009804,MedGen:C402422219757826219757826ACNC_000002.11:g.219757826A>CClinGen:CA2114108CN517202 not provided;
NM_025216.3(WNT10A):c.1091dup (p.Ser365fs)80326WNT10APathogenic-1RCV001910237; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757828219757829CCA219757828-
NM_025216.3(WNT10A):c.1092G>A (p.Lys364=)80326WNT10ALikely benign-1RCV001479827; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757831219757831GA219757831-
NM_025216.3(WNT10A):c.1098C>T (p.Ser366=)80326WNT10ALikely benign-1RCV001461664; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757837219757837CT219757837-
NM_025216.3(WNT10A):c.1107G>T (p.Ser369=)80326WNT10ALikely benign-1RCV001455857; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757846219757846GT219757846-
NM_025216.3(WNT10A):c.1107G>A (p.Ser369=)80326WNT10ALikely benign-1RCV001494895; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757846219757846GA219757846-
NM_025216.3(WNT10A):c.1114T>G (p.Cys372Gly)80326WNT10AUncertain significancers1487577386RCV001221860; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757853219757853TG2:g.219757853T>G-
NM_025216.3(WNT10A):c.1116C>T (p.Cys372=)80326WNT10ALikely benign-1RCV001443314; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757855219757855CT219757855-
NM_025216.3(WNT10A):c.1124T>G (p.Met375Arg)80326WNT10AUncertain significancers773598047RCV001218811|RCV001828740; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757863219757863TG2:g.219757863T>G-
NM_025216.3(WNT10A):c.1128C>A (p.Cys376Ter)80326WNT10APathogenicrs121908122RCV000004719; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757867219757867CANC_000002.11:g.219757867C>AClinGen:CA116869,OMIM:606268.0005C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.1128C>T (p.Cys376=)80326WNT10ALikely benign-1RCV002171391; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757867219757867CT219757867-
NM_025216.3(WNT10A):c.1131C>T (p.Cys377=)80326WNT10ALikely benign-1RCV001406458; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757870219757870CT219757870-
NM_025216.3(WNT10A):c.1134C>T (p.Gly378=)80326WNT10AConflicting interpretations of pathogenicityrs886055644RCV000291835|RCV000327060|RCV000383955|RCV002057663; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MO2219757873219757873CTNC_000002.11:g.219757873C>TClinGen:CA10614356C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.1140C>T (p.Gly380=)80326WNT10ALikely benign-1RCV001495298; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757879219757879CT219757879-
NM_025216.3(WNT10A):c.1143C>T (p.His381=)80326WNT10ALikely benign-1RCV001493767; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757882219757882CT219757882-
NM_025216.3(WNT10A):c.1146C>T (p.Asn382=)80326WNT10ALikely benign-1RCV001459699|RCV001832599; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219757885219757885CT219757885-
NM_025216.3(WNT10A):c.1149C>T (p.Ile383=)80326WNT10ALikely benign-1RCV001395129; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757888219757888CT219757888-
NM_025216.3(WNT10A):c.1158G>A (p.Gln386=)80326WNT10ALikely benign-1RCV001453647; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757897219757897GA219757897-
NM_025216.3(WNT10A):c.1161G>T (p.Thr387=)80326WNT10ALikely benign-1RCV001443363; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757900219757900GT219757900-
NM_025216.3(WNT10A):c.1161G>A (p.Thr387=)80326WNT10ALikely benign-1RCV001469473; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757900219757900GA219757900-
NM_025216.3(WNT10A):c.1164C>T (p.Arg388=)80326WNT10ALikely benign-1RCV002174421; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757903219757903CT219757903-
NM_025216.3(WNT10A):c.1165_1178delinsTTCCAGCACAACATC (p.Ser389fs)80326WNT10APathogenicrs1944678383RCV001241317; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757904219757917AGCGAGCGCTGCCATTCCAGCACAACATC2:g.219757904_219757905insTCCAGCACAACATC-
NM_025216.3(WNT10A):c.1168G>T (p.Glu390Ter)80326WNT10APathogenic/Likely pathogenicrs750260671RCV000429425|RCV001232141; NMedGen:CN517202|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757907219757907GT2:g.219757907G>TClinGen:CA2114123CN517202 not provided;
NM_025216.3(WNT10A):c.1170G>A (p.Glu390=)80326WNT10ALikely benign-1RCV002167148; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757909219757909GA219757909-
NM_025216.3(WNT10A):c.1173C>T (p.Arg391=)80326WNT10ALikely benignrs1575235198RCV000930861|RCV001488970; NMedGen:CN517202|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757912219757912CT2:g.219757912C>T-
NM_025216.3(WNT10A):c.1176C>A (p.Cys392Ter)80326WNT10APathogenicrs1553623389RCV000677099; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757915219757915CA2:g.219757915C>A-C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.1199G>A (p.Cys400Tyr)80326WNT10APathogenicrs1575235227RCV000995914; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757938219757938GA2:g.219757938G>A-
NM_025216.3(WNT10A):c.1199G>C (p.Cys400Ser)80326WNT10AUncertain significancers1575235227RCV001208383; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757938219757938GC2:g.219757938G>C-
NM_025216.3(WNT10A):c.1212C>G (p.Cys404Trp)80326WNT10AUncertain significancers1553623396RCV000537520; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757951219757951CG2:g.219757951C>GClinGen:CA350592627C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.1221C>T (p.Cys407=)80326WNT10ALikely benign-1RCV001421828; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721; MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219757960219757960CT219757960-
NM_025216.3(WNT10A):c.1239C>A (p.Val413=)80326WNT10ALikely benign-1RCV002206515; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757978219757978CA219757978-
NM_025216.3(WNT10A):c.1251G>A (p.Lys417=)80326WNT10ALikely benign-1RCV001408963; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798; MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219757990219757990GA219757990-
NM_025216.3(WNT10A):c.*15C>T80326WNT10AUncertain significancers886055645RCV000285858|RCV000339827|RCV000406243; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219758008219758008CTNC_000002.11:g.219758008C>TClinGen:CA10612474C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.*108G>A80326WNT10AUncertain significancers190527122RCV000298619|RCV000343286|RCV000395886; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219758101219758101GANC_000002.11:g.219758101G>AClinGen:CA10614200C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.*115C>T80326WNT10AUncertain significancers886055646RCV000311654|RCV000355840|RCV000395878; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219758108219758108CTNC_000002.11:g.219758108C>TClinGen:CA10612840C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.*128T>C80326WNT10ALikely benignrs1054630RCV000276113|RCV000333400|RCV000368319; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219758121219758121TCNC_000002.11:g.219758121T>CClinGen:CA10614201C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.*139C>G80326WNT10AUncertain significancers1944681589RCV001139235|RCV001139234|RCV001139236; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219758132219758132CG2:g.219758132C>G-
NM_025216.3(WNT10A):c.*216G>C80326WNT10ALikely benignrs552325173RCV000270312|RCV000327725|RCV000362436; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219758209219758209GCNC_000002.11:g.219758209G>CClinGen:CA10614202C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.*238C>T80326WNT10AUncertain significancers1176499706RCV001141849|RCV001141851|RCV001141850; NMONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219758231219758231CT2:g.219758231C>T-
NM_025216.3(WNT10A):c.*275C>T80326WNT10ALikely benignrs182186187RCV000283268|RCV000321420|RCV000384690; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:997982219758268219758268CTNC_000002.11:g.219758268C>TClinGen:CA10614203C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.*339C>T80326WNT10AUncertain significancers1944683536RCV001141852|RCV001141853|RCV001143649; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219758332219758332CT2:g.219758332C>T-
NM_025216.3(WNT10A):c.*431C>T80326WNT10ABenign/Likely benignrs77272502RCV000286731|RCV000334738|RCV000378404; NMONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:50944|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:27212219758424219758424CTNC_000002.11:g.219758424C>TClinGen:CA10612841C0796093 257980 Odontoonychodermal dysplasia;
NM_025216.3(WNT10A):c.*441C>T80326WNT10AUncertain significancers886055647RCV000280798|RCV000338084|RCV000372959; NMONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980, Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400, Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750, Orphanet:509442219758434219758434CTNC_000002.11:g.219758434C>TClinGen:CA10614206C0796093 257980 Odontoonychodermal dysplasia;
MSeqDR Portal