Full data view for gene WDR1

Information The variants shown are described using the NM_005112.4 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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.17-8C>G r.(=) p.(=) Unknown - likely benign g.10117866G>C g.10116242G>C WDR1(NM_017491.4):c.17-8C>G - WDR1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.102C>T r.(?) p.(Tyr34=) Unknown - likely benign g.10117773G>A - WDR1(NM_017491.4):c.102C>T (p.Y34=) - WDR1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.138+12170T>C r.(=) p.(=) Unknown - likely benign g.10105567A>G g.10103943A>G WDR1(NM_017491.4):c.182T>C (p.V61A), WDR1(NM_017491.5):c.182T>C (p.V61A) - WDR1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.138+12170T>C r.(=) p.(=) Unknown - likely benign g.10105567A>G - WDR1(NM_017491.4):c.182T>C (p.V61A), WDR1(NM_017491.5):c.182T>C (p.V61A) - WDR1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139-10417C>T r.(=) p.(=) Unknown - likely benign g.10100782G>A - WDR1(NM_017491.5):c.230-19C>T - WDR1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.139-10416G>A r.(=) p.(=) Unknown - benign g.10100781C>T - WDR1(NM_017491.5):c.230-18G>A - WDR1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139-10364G>A r.(=) p.(=) Unknown - likely benign g.10100729C>T - WDR1(NM_017491.5):c.264G>A (p.T88=) - WDR1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139-9114T>A r.(=) p.(=) Unknown - likely benign g.10099479A>T - WDR1(NM_017491.3):c.414T>A (p.(Ser138=)), WDR1(NM_017491.4):c.414T>A (p.S138=) - WDR1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139-9114T>A r.(=) p.(=) Unknown - likely benign g.10099479A>T - WDR1(NM_017491.3):c.414T>A (p.(Ser138=)), WDR1(NM_017491.4):c.414T>A (p.S138=) - WDR1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139-9087A>G r.(=) p.(=) Unknown - likely benign g.10099452T>C g.10097828T>C WDR1(NM_017491.4):c.441A>G (p.K147=) - WDR1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139-9039C>G r.(=) p.(=) Unknown - likely benign g.10099404G>C - WDR1(NM_017491.4):c.489C>G (p.A163=), WDR1(NM_017491.5):c.489C>G (p.A163=) - WDR1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139-9039C>G r.(=) p.(=) Unknown - likely benign g.10099404G>C - WDR1(NM_017491.4):c.489C>G (p.A163=), WDR1(NM_017491.5):c.489C>G (p.A163=) - WDR1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139-9021C>T r.(=) p.(=) Unknown - likely benign g.10099386G>A - WDR1(NM_017491.4):c.507C>T (p.N169=), WDR1(NM_017491.5):c.507C>T (p.N169=) - WDR1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139-9021C>T r.(=) p.(=) Unknown - likely benign g.10099386G>A - WDR1(NM_017491.4):c.507C>T (p.N169=), WDR1(NM_017491.5):c.507C>T (p.N169=) - WDR1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139-9016C>T r.(=) p.(=) Unknown - likely benign g.10099381G>A - WDR1(NM_017491.4):c.512C>T (p.A171V), WDR1(NM_017491.5):c.512C>T (p.A171V) - WDR1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139-9016C>T r.(=) p.(=) Unknown - likely benign g.10099381G>A - WDR1(NM_017491.4):c.512C>T (p.A171V), WDR1(NM_017491.5):c.512C>T (p.A171V) - WDR1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.220T>C r.(?) p.(Tyr74His) Unknown - likely benign g.10089994A>G g.10088370A>G WDR1(NM_017491.4):c.640T>C (p.Y214H) - WDR1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.228T>C r.(?) p.(Tyr76=) Unknown - likely benign g.10089986A>G - WDR1(NM_017491.4):c.648T>C (p.Y216=) - WDR1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.295G>T r.(?) p.(Ala99Ser) Unknown - VUS g.10089919C>A g.10088295C>A WDR1(NM_017491.4):c.715G>T (p.A239S) - WDR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.297+10A>T r.(=) p.(=) Unknown - likely benign g.10089907T>A g.10088283T>A WDR1(NM_017491.4):c.717+10A>T, WDR1(NM_017491.5):c.717+10A>T - WDR1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.297+10A>T r.(=) p.(=) Unknown - likely benign g.10089907T>A - WDR1(NM_017491.4):c.717+10A>T, WDR1(NM_017491.5):c.717+10A>T - WDR1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.297+12C>T r.(=) p.(=) Unknown - likely benign g.10089905G>A g.10088281G>A WDR1(NM_017491.5):c.717+12C>T - WDR1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312C>T r.(?) p.(Pro104=) Unknown - likely benign g.10089550G>A g.10087926G>A WDR1(NM_017491.5):c.732C>T (p.(Pro244=), p.P244=) - WDR1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.312C>T r.(?) p.(Pro104=) Unknown - VUS g.10089550G>A - WDR1(NM_017491.5):c.732C>T (p.(Pro244=), p.P244=) - WDR1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.323A>G r.(?) p.(His108Arg) Both (homozygous) - likely benign g.10089539T>C g.10087915T>C WDR1 743A>G - WDR1_000028 - PubMed: Chia 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatII1 PubMed: Chia 2018 2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs M yes Jordan - - - - - 4 Johan den Dunnen
?/. - c.323A>G r.(?) p.(His108Arg) Both (homozygous) - likely benign g.10089539T>C g.10087915T>C WDR1 743A>G - WDR1_000028 - PubMed: Chia 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatII4 PubMed: Chia 2018 affected sister F yes Jordan - - - - - 1 Johan den Dunnen
-?/. - c.474C>T r.(?) p.(Ser158=) Unknown - likely benign g.10089388G>A g.10087764G>A WDR1(NM_017491.4):c.894C>T (p.S298=) - WDR1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.801C>T r.(?) p.(Asp267=) Unknown - likely benign g.10083044G>A g.10081420G>A WDR1(NM_017491.4):c.1221C>T (p.D407=), WDR1(NM_017491.5):c.1221C>T (p.D407=) - WDR1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.801C>T r.(?) p.(Asp267=) Unknown - likely benign g.10083044G>A - WDR1(NM_017491.4):c.1221C>T (p.D407=), WDR1(NM_017491.5):c.1221C>T (p.D407=) - WDR1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.864+5_864+6dup r.spl? p.? Unknown - likely benign g.10082976_10082977dup - WDR1(NM_017491.3):c.1284+5_1284+6dupGG (p.?), WDR1(NM_017491.4):c.1284+5_1284+6dupGG, WDR1(NM_017491.5):c.1284+5_1284+6dupGG - WDR1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.864+5_864+6dup r.spl? p.? Unknown - likely benign g.10082976_10082977dup - WDR1(NM_017491.3):c.1284+5_1284+6dupGG (p.?), WDR1(NM_017491.4):c.1284+5_1284+6dupGG, WDR1(NM_017491.5):c.1284+5_1284+6dupGG - WDR1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.864+5_864+6dup r.spl? p.? Unknown - likely benign g.10082976_10082977dup - WDR1(NM_017491.3):c.1284+5_1284+6dupGG (p.?), WDR1(NM_017491.4):c.1284+5_1284+6dupGG, WDR1(NM_017491.5):c.1284+5_1284+6dupGG - WDR1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.912C>T r.(?) p.(Pro304=) Unknown - likely benign g.10080578G>A - WDR1(NM_017491.5):c.1332C>T (p.P444=) - WDR1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.964A>G r.(?) p.(Ile322Val) Unknown - likely benign g.10080526T>C - WDR1(NM_017491.5):c.1384A>G (p.I462V) - WDR1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.976-5C>T r.spl? p.? Unknown - likely benign g.10079555G>A - WDR1(NM_017491.5):c.1396-5C>T - WDR1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1020G>A r.(?) p.(Lys340=) Unknown - likely benign g.10079506C>T g.10077882C>T WDR1(NM_017491.4):c.1440G>A (p.K480=) - WDR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1077C>T r.(?) p.(His359=) Unknown - likely benign g.10079449G>A - WDR1(NM_017491.5):c.1497C>T (p.H499=) - WDR1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1080C>T r.(?) p.(Asp360=) Unknown - likely benign g.10079446G>A - WDR1(NM_017491.4):c.1500C>T (p.D500=) - WDR1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1150-12A>T r.(=) p.(=) Unknown - likely benign g.10079084T>A - WDR1(NM_017491.5):c.1570-12A>T - WDR1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1272G>A r.(?) p.(=) Unknown - likely benign g.10078950C>T - WDR1(NM_017491.5):c.1692G>A (p.P564=) - WDR1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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