Full data view for gene DVL1

Information The variants shown are described using the NM_004421.2 transcript reference sequence.

87 entries on 1 page. Showing entries 1 - 87.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-5001G>A r.(?) p.(=) Unknown - likely benign g.1289446C>T - MXRA8(NM_001282582.1):c.1186G>A (p.(Asp396Asn)) - DVL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4848T>A r.(?) p.(=) Unknown - VUS g.1289293A>T - MXRA8(NM_001282585.1):c.1256T>A (p.(Ile413Asn)) - MXRA8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4781T>G r.(?) p.(=) Unknown - VUS g.1289226A>C - MXRA8(NM_001282585.1):c.1321+2T>G (p.?) - DVL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.130G>T r.(?) p.(Ala44Ser) Unknown - VUS g.1284316C>A - DVL1(NM_001330311.2):c.130G>T (p.(Ala44Ser)) - DVL1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.272C>T r.(?) p.(Ala91Val) Unknown - likely benign g.1277833G>A - DVL1(NM_001330311.1):c.272C>T (p.(Ala91Val)) - DVL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.362+8C>T r.(=) p.(=) Unknown - likely benign g.1277735G>A - DVL1(NM_001330311.1):c.362+8C>T (p.(=)) - DVL1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.416C>T r.(?) p.(Ser139Phe) Unknown - VUS g.1277483G>A - DVL1(NM_001330311.2):c.416C>T (p.(Ser139Phe)) - DVL1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.457C>T r.(?) p.(Arg153Cys) Unknown - likely benign g.1277442G>A - DVL1(NM_004421.2):c.457C>T (p.(Arg153Cys)) - DVL1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.468C>T r.(?) p.(Ala156=) Unknown - benign g.1277184G>A g.1341804G>A DVL1(NM_001330311.1):c.468C>T (p.(Ala156=)) - DVL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469G>A r.(?) p.(Ala157Thr) Unknown - likely benign g.1277183C>T g.1341803C>T DVL1(NM_004421.2):c.469G>A (p.(Ala157Thr)) - DVL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.484C>T r.(?) p.(His162Tyr) Unknown - likely benign g.1277168G>A - DVL1(NM_004421.2):c.484C>T (p.(His162Tyr)) - DVL1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.490A>G r.(?) p.(Arg164Gly) Unknown - likely benign g.1277162T>C - DVL1(NM_004421.2):c.490A>G (p.(Arg164Gly)) - DVL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.626A>G r.(?) p.(Gln209Arg) Unknown - likely benign g.1275863T>C - DVL1(NM_004421.2):c.626A>G (p.(Gln209Arg)) - DVL1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.685C>G r.(?) p.(Arg229Gly) Unknown - likely benign g.1275804G>C - DVL1(NM_004421.2):c.685C>G (p.(Arg229Gly)) - DVL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.707_709del r.(?) p.(Ser236del) Unknown - likely benign g.1275693_1275695del - DVL1(NM_001330311.1):c.707_709del (p.(Ser236del)) - DVL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.731C>T r.(?) p.(Thr244Ile) Unknown - VUS g.1275665G>A - DVL1(NM_001330311.2):c.731C>T (p.(Thr244Ile)) - TAS1R3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.733A>G r.(?) p.(Met245Val) Unknown - likely benign g.1275663T>C - DVL1(NM_004421.2):c.733A>G (p.(Met245Val)) - TAS1R3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.817C>T r.(?) p.(Arg273Cys) Unknown - likely benign g.1275510G>A g.1340130G>A DVL1(NM_001330311.2):c.817C>T (p.R273C) - TAS1R3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850A>G r.(?) p.(Met284Val) Unknown - VUS g.1275477T>C - DVL1(NM_004421.2):c.850A>G (p.(Met284Val)) - TAS1R3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.910-8C>T r.(=) p.(=) Unknown - likely benign g.1275200G>A - DVL1(NM_004421.2):c.910-8C>T (p.(=)) - TAS1R3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.910-6C>G r.(=) p.(=) Unknown - likely benign g.1275198G>C g.1339818G>C DVL1(NM_004421.2):c.910-6C>G (p.(=)) - TAS1R3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.941A>G r.(?) p.(Asn314Ser) Unknown - VUS g.1275161T>C - DVL1(NM_004421.2):c.941A>G (p.(Asn314Ser)) - TAS1R3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1103C>A r.(?) p.(Ala368Glu) Unknown - likely benign g.1274771G>T - DVL1(NM_001330311.2):c.1103C>A (p.(Ala368Glu)) - TAS1R3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1103C>T r.(?) p.(Ala368Val) Unknown - likely benign g.1274771G>A - DVL1(NM_004421.2):c.1103C>T (p.(Ala368Val)) - TAS1R3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1132G>T r.(?) p.(Glu378Ter) Unknown - likely pathogenic g.1274742C>A - - - DVL1_000029 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1132G>T r.(?) p.(Glu378Ter) Unknown - VUS g.1274742C>A - - - DVL1_000029 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1147C>T r.(?) p.(Pro383Ser) Unknown - likely benign g.1274019G>A - DVL1(NM_004421.3):c.1147C>T (p.P383S) - TAS1R3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1168A>G r.(?) p.(Met390Val) Unknown - VUS g.1273998T>C - DVL1(NM_004421.2):c.1168A>G (p.(Met390Val)) - TAS1R3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1265-7C>G r.(=) p.(=) Unknown - likely benign g.1273823G>C - DVL1(NM_001330311.2):c.1340-7C>G - TAS1R3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1265-3C>T r.spl? p.? Unknown - likely benign g.1273819G>A g.1338439G>A DVL1(NM_004421.2):c.1265-3C>T (p.?) - TAS1R3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1291A>G r.(?) p.(Thr431Ala) Unknown - likely benign g.1273790T>C - DVL1(NM_001330311.2):c.1366A>G (p.T456A), DVL1(NM_004421.2):c.1291A>G (p.(Thr431Ala)) - TAS1R3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1291A>G r.(?) p.(Thr431Ala) Unknown - likely benign g.1273790T>C - DVL1(NM_001330311.2):c.1366A>G (p.T456A), DVL1(NM_004421.2):c.1291A>G (p.(Thr431Ala)) - TAS1R3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1318C>T r.(?) p.(Arg440Trp) Unknown - VUS g.1273763G>A - - - TAS1R3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1327C>T r.(?) p.(Arg443Trp) Unknown - VUS g.1273754G>A - DVL1(NM_004421.3):c.1327C>T (p.R443W) - TAS1R3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1366C>T r.(?) p.(Arg456Trp) Unknown - VUS g.1273715G>A - DVL1(NM_001330311.2):c.1441C>T (p.(Arg481Trp)) - TAS1R3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1367G>A r.(?) p.(Arg456Gln) Unknown - VUS g.1273714C>T - DVL1(NM_004421.2):c.1367G>A (p.(Arg456Gln)) - TAS1R3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1432+39_1432+40insCC r.(=) p.(=) Unknown - VUS g.1273609_1273610insGG - DVL1(NM_001330311.2):c.1507+39_1507+40insCC - TAS1R3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1496_1508del r.(?) p.(Pro499Argfs*146) Parent #1 - likely pathogenic g.1273491_1273503del g.1338111_1338123del - - DVL1_000010 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797044836 Germline - 1/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.1496_1508del r.(?) p.(Pro499Argfs*146) Unknown - pathogenic (dominant) g.1273491_1273503del g.1338111_1338123del - - DVL1_000010 - PubMed: White 2018 - - De novo - - - - - DNA SEQ - - RRS BAB9129 PubMed: White 2018 patient - - - - - - - - 1 Johan den Dunnen
+/. - c.1505_1517del r.(?) p.(His502Profs*143) Unknown - pathogenic (dominant) g.1273487_1273499del g.1338107_1338119del - - DVL1_000021 - PubMed: White 2018 - - Germline - - - - - DNA SEQ - - RRS 16420 PubMed: White 2018 patient - - - - - - - - 1 Johan den Dunnen
+/. - c.1505_1517del r.(?) p.(His502Profs*143) Unknown - pathogenic (dominant) g.1273487_1273499del g.1338107_1338119del - - DVL1_000021 - PubMed: White 2015 - - De novo - - - - - DNA SEQ - WES RRS BAB4878 PubMed: White 2015 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1505_1517del r.(?) p.(His502Profs*143) Unknown - pathogenic (dominant) g.1273487_1273499del g.1338107_1338119del - - DVL1_000021 - PubMed: White 2015 - - De novo - - - - - DNA SEQ - - RRS 16462 PubMed: White 2015 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1508del r.(?) p.(Pro503Argfs*146) Parent #1 - pathogenic g.1273490del g.1338110del - - DVL1_000009 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797044836 Germline - 1/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.1508del r.(?) p.(Pro503Argfs*146) Unknown - pathogenic (dominant) g.1273490del g.1338110del - - DVL1_000009 - PubMed: White 2015 - - De novo - - - - - DNA SEQ - - RRS 16516 PubMed: White 2015 family, monozygotic twins M - - - - - - - 2 Johan den Dunnen
+/. - c.1508del r.(?) p.(Pro503Argfs*146) Unknown - pathogenic (dominant) g.1273490del g.1338110del - - DVL1_000009 - PubMed: White 2015 - - De novo - - - - - DNA SEQ - - RRS 16517 PubMed: White 2015 2nd twin M - - - - - - - 1 Johan den Dunnen
-?/. - c.1517C>T r.(?) p.(Pro506Leu) Unknown - likely benign g.1273479G>A - DVL1(NM_001330311.2):c.1592C>T (p.(Pro531Leu)) - TAS1R3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1518del r.(?) p.(Trp507GlyfsTer142) Unknown - pathogenic (dominant) g.1273482del g.1338102del - - DVL1_000027 ACMG PP3, PP4, PM2, PM4, PM1, PM6, PS1 PubMed: Rai 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES RRS Pat4 PubMed: Rai 2021 3-generation family, 1 affected F - India - - - - - 1 Johan den Dunnen
+/. - c.1519del r.(?) p.(Trp507Glyfs*142) Unknown - pathogenic (dominant) g.1273477del g.1338097del - - DVL1_000020 - PubMed: White 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - WES RRS BAB5264 PubMed: White 2015 - M - - - - - - - 1 Johan den Dunnen
+/. - c.1519del r.1519del p.Trp507Glyfs*142 Unknown - pathogenic (dominant) g.1273477del g.1338097del - - DVL1_000020 - PubMed: Bunn 2015 - - De novo - - - - - DNA, RNA RT-PCR, SEQ - WES RRS Pat1 PubMed: Bunn 2015 - - - New Zealand - - - - - 1 Johan den Dunnen
+/. - c.1523del r.1523del p.Pro508Leufs*141 Unknown - pathogenic (dominant) g.1273474del g.1338094del 1522delC - DVL1_000019 - PubMed: White 2016 - - De novo - - - - - DNA, RNA RT-PCR, SEQ - - RRS BAB8062 PubMed: White 2016 2-generation family, 1 affected, unaffected non-carrier parents/relatives M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.1529del r.(?) p.(Gly510Valfs*139) Unknown - pathogenic (dominant) g.1273469del g.1338089del - - DVL1_000018 - PubMed: White 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - RRS 30526 PubMed: White 2015 - F - Portugal Portugal;Northern Europe - - - - 1 Johan den Dunnen
+/. - c.1556del r.1556del p.Gly519Aspfs*130 Unknown ACMG pathogenic (dominant) g.1273442del g.1338062del c.1556delG - DVL1_000026 ACMG PVS1, PM1, PM2, PM6, PP3 PubMed: Zhang 2021 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES DRS BAB10151 PubMed: Zhang 2021 2-generation family, 1 affected, unaffected non-carrier mother F - United States - - - - - 1 Johan den Dunnen
+/. - c.1562del r.(?) p.(Pro521Hisfs*128) Unknown - pathogenic (dominant) g.1273438del g.1338058del - - DVL1_000017 - PubMed: Bunn 2015 - - De novo - - - - - DNA SEQ - - RRS Pat2 PubMed: Bunn 2015 - - - New Zealand - - - - - 1 Johan den Dunnen
+/. - c.1570_1571delinsC r.(?) p.(Phe524Profs*125) Unknown - pathogenic (dominant) g.1273425_1273426delinsG g.1338045_1338046delinsG - - DVL1_000016 - PubMed: White 2015 - - De novo - - - - - DNA SEQ - WES RRS BAB4073 PubMed: White 2015 - F - - - - - - - 1 Johan den Dunnen
+?/+? 14 c.1571_1583del r.(?) p.(Phe524Serfs*121) Unknown - pathogenic (dominant) g.1273413_1273425del g.1338033_1338045del - - DVL1_000033 - PubMed: Tsai 2023 - - De novo - - - - - DNA SEQ-NG - - DRS2 Pat10 PubMed: Tsai 2023 - M - - - - - - - 1 Juliana Mazzeu
+?/+? - c.1575_1582dup r.(?) p.(Tyr528Cysfs*124) Unknown ACMG pathogenic (dominant) g.1273414_1273421dup g.1338034_1338041dup - - DVL1_000036 - PubMed: Smith 2024, Journal: Smith 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - exome sequencing with bioinformatic filtering for skeletal dysplasia panel (522 genes) DRS2 patient PubMed: Smith 2024, Journal: Smith 2024 - M - United States - - - - - 1 Juliana Mazzeu
+/. - c.1576_1583delinsG r.(?) p.(Pro526Alafs*121) Unknown - pathogenic (dominant) g.1273413_1273420delinsC g.1338033_1338040delinsC - - DVL1_000015 - PubMed: Bunn 2015 - - De novo - - - - - DNA SEQ - - RRS Pat3 PubMed: Bunn 2015 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1608_1623del r.(?) p.(Ser537Valfs*107) Unknown - pathogenic (dominant) g.1273375_1273390del g.1337995_1338010del - - DVL1_000012 - PubMed: White 2018 - - De novo - - - - - DNA SEQ - - RRS BAB9236 PubMed: White 2018 patient - - - - - - - - 1 Johan den Dunnen
+/. - c.1612_1616dup r.(?) p.(Ser539Argfs*112) Unknown - pathogenic (dominant) g.1273380_1273384dup g.1338000_1338004dup 191dupA - DVL1_000013 - PubMed: White 2018 - - Germline - - - - - DNA SEQ - - RRS BAB9126 PubMed: White 2018 patient - - - - - - - - 1 Johan den Dunnen
+/. - c.1612_1616dup r.(?) p.(Ser539Argfs*112) Unknown - pathogenic (dominant) g.1273380_1273384dup g.1338000_1338004dup - - DVL1_000013 - PubMed: White 2018 - - Germline - - - - - DNA SEQ - - RRS BAB9128 PubMed: White 2018 patient - - - - - - - - 1 Johan den Dunnen
+/. - c.1615del r.(?) p.(Ser539Alafs*110) Unknown - pathogenic (dominant) g.1273381del g.1338001del - - DVL1_000014 - PubMed: White 2015 - - De novo - - - - - DNA SEQ - - RRS 17604 PubMed: White 2015 - M - Turkey - - - - - 1 Johan den Dunnen
-?/. - c.1620C>G r.(?) p.(Thr540=) Unknown - likely benign g.1273376G>C g.1337996G>C DVL1(NM_001330311.2):c.1695C>G (p.T565=) - TAS1R3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 14 c.1620delC r.(?) p.(Ser542Valfs*107) Unknown ACMG VUS g.1273377del g.1337997del 1620delC - DVL1_000030 - PubMed: Hu 2022 - - De novo - - - - - DNA SEQ-NG-I - - DRS2 patient PubMed: Hu 2022 - ? no China - - - - - 1 Juliana Mazzeu
+/. - c.1623del r.(?) p.(Ser542Valfs*107) Unknown - pathogenic (dominant) g.1273375del g.1337995del - - DVL1_000011 - PubMed: White 2018 - - Germline - - - - - DNA SEQ - - RRS BAB9300 PubMed: White 2018 patient - - - - - - - - 1 Johan den Dunnen
-?/. - c.1640G>C r.(?) p.(Gly547Ala) Unknown - likely benign g.1271895C>G - - - TAS1R3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1664G>A r.(?) p.(Arg555Gln) Unknown - likely benign g.1271871C>T - DVL1(NM_001330311.1):c.1739G>A (p.(Arg580Gln)) - TAS1R3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1676G>A r.(?) p.(Arg559Gln) Unknown - VUS g.1271859C>T - DVL1(NM_004421.2):c.1676G>A (p.(Arg559Gln)) - TAS1R3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1682C>G r.(?) p.(Pro561Arg) Unknown - likely benign g.1271853G>C g.1336473G>C DVL1(NM_001330311.1):c.1757C>G (p.(Pro586Arg)) - TAS1R3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1721G>A r.(?) p.(Gly574Asp) Unknown - VUS g.1271814C>T - DVL1(NM_004421.2):c.1721G>A (p.(Gly574Asp)) - TAS1R3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1893dup r.(?) p.(Pro632Alafs*50) Unknown - VUS g.1271648dup - DVL1(NM_001330311.2):c.1968dup (p.(Pro657Alafs*50)) - TAS1R3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1929C>T r.(?) p.(Ala643=) Unknown - likely benign g.1271606G>A - DVL1(NM_001330311.2):c.2004C>T (p.A668=) - TAS1R3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1937C>T r.(?) p.(Pro646Leu) Unknown - likely benign g.1271598G>A - DVL1(NM_001330311.2):c.2012C>T (p.(Pro671Leu)) - TAS1R3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1957C>T r.(?) p.(Gln653*) Unknown - VUS g.1271578G>A - - - TAS1R3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1976T>C r.(?) p.(Met659Thr) Unknown - likely benign g.1271559A>G g.1336179A>G DVL1(NM_004421.2):c.1976T>C (p.(Met659Thr)) - TAS1R3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2090G>T r.(=) p.(=) Unknown - benign g.1269432C>A g.1334052C>A TAS1R3(NM_152228.1):c.2147C>A (p.(Thr716Lys)) - TAS1R3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2484C>T r.(=) p.(=) Unknown - VUS g.1269038G>A - TAS1R3(NM_152228.3):c.1753G>A (p.(Ala585Thr)) - TAS1R3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2501G>A r.(=) p.(=) Unknown - likely benign g.1269021C>T - TAS1R3(NM_152228.1):c.1736C>T (p.(Ala579Val)) - TAS1R3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3155C>T r.(=) p.(=) Unknown - VUS g.1268367G>A g.1332987G>A TAS1R3(NM_152228.3):c.1342G>A (p.G448R) - TAS1R3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3178A>T r.(=) p.(=) Unknown - VUS g.1268344T>A g.1332964T>A TAS1R3(NM_152228.1):c.1319T>A (p.(Leu440Gln)) - TAS1R3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3211T>A r.(=) p.(=) Unknown - likely benign g.1268311A>T - TAS1R3(NM_152228.1):c.1286A>T (p.(Asn429Ile)) - TAS1R3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3872_*3884del r.(=) p.(=) Unknown - VUS g.1267644_1267656del - TAS1R3(NM_152228.3):c.733_745del (p.(Leu245Metfs*15)) - TAS1R3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3914G>A r.(=) p.(=) Unknown - VUS g.1267608C>T g.1332228C>T TAS1R3(NM_152228.3):c.697C>T (p.R233C) - TAS1R3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3917C>T r.(=) p.(=) Unknown - VUS g.1267605G>A - TAS1R3(NM_152228.3):c.694G>A (p.(Ala232Thr)) - TAS1R3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3983C>T r.(=) p.(=) Unknown - likely benign g.1267539G>A - TAS1R3(NM_152228.1):c.628G>A (p.(Ala210Thr)) - TAS1R3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4027G>A r.(=) p.(=) Unknown - likely benign g.1267495C>T - TAS1R3(NM_152228.1):c.584C>T (p.(Thr195Met)) - TAS1R3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4482A>C r.(=) p.(=) Unknown - likely benign g.1267040T>G g.1331660T>G TAS1R3(NM_152228.1):c.214T>G (p.(Trp72Gly)) - TAS1R3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9220C>T r.(=) p.(=) Unknown - VUS g.1262302G>A - CPTP(NM_001029885.2):c.12G>A (p.(Ser4=)) - TAS1R3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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