Full data view for gene WDR62

Information The variants shown are described using the NM_001083961.1 transcript reference sequence.

173 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.102G>C r.(?) p.(Pro34=) Unknown - likely benign g.36545975G>C g.36055073G>C WDR62(NM_001083961.1):c.102G>C (p.P34=) - WDR62_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.141dup r.(?) p.(Leu48ThrfsTer32) Unknown - likely pathogenic g.36546014dup - WDR62(NM_001083961.2):c.141dupA (p.L48Tfs*32) - WDR62_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.142C>T r.(?) p.(Leu48Phe) Unknown - benign g.36546015C>T g.36055113C>T WDR62(NM_001083961.1):c.142C>T (p.L48F, p.(Leu48Phe)), WDR62(NM_001083961.2):c.142C>T (p.L48F) - WDR62_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.142C>T r.(?) p.(Leu48Phe) Unknown - likely benign g.36546015C>T g.36055113C>T WDR62(NM_001083961.1):c.142C>T (p.L48F, p.(Leu48Phe)), WDR62(NM_001083961.2):c.142C>T (p.L48F) - WDR62_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.142C>T r.(?) p.(Leu48Phe) Unknown - likely benign g.36546015C>T g.36055113C>T WDR62(NM_001083961.1):c.142C>T (p.L48F, p.(Leu48Phe)), WDR62(NM_001083961.2):c.142C>T (p.L48F) - WDR62_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.177+1G>T r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.36546051G>T g.36055149G>T - - WDR62_000110 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8500096 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - 2 Johan den Dunnen
-/. - c.180G>A r.(?) p.(Val60=) Unknown - benign g.36549684G>A g.36058782G>A WDR62(NM_001083961.1):c.180G>A (p.V60=) - WDR62_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.180G>A r.(?) p.(Val60=) Unknown - benign g.36549684G>A g.36058782G>A WDR62(NM_001083961.1):c.180G>A (p.V60=) - WDR62_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.186C>T r.(?) p.(Leu62=) Unknown - benign g.36549690C>T g.36058788C>T WDR62(NM_001083961.1):c.186C>T (p.L62=) - WDR62_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.186C>T r.(?) p.(Leu62=) Unknown - benign g.36549690C>T g.36058788C>T WDR62(NM_001083961.1):c.186C>T (p.L62=) - WDR62_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.250dup r.(250dup) p.(His84Profs*25) Both (homozygous) ACMG pathogenic (recessive) g.36549754dup g.36058852dup 248_249insC - WDR62_000137 - - - - Germline - - - - - DNA SEQ-NG-I - - ID - - - M yes Pakistan - - - - - 1 Amina Iftikhar Butt
?/. - c.253G>A r.(?) p.(Val85Met) Unknown - VUS g.36549757G>A g.36058855G>A WDR62(NM_001083961.1):c.253G>A (p.V85M, p.(Val85Met)) - WDR62_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.253G>A r.(?) p.(Val85Met) Unknown - likely benign g.36549757G>A g.36058855G>A WDR62(NM_001083961.1):c.253G>A (p.V85M, p.(Val85Met)) - WDR62_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.269+12del r.(=) p.(=) Unknown - likely benign g.36549785del g.36058883del WDR62(NM_001083961.1):c.269+12delA - WDR62_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.332G>C r.[(270_332del,332_333ins332+1_332+87)] p.[(Cys91_Arg111del,Arg111ThrfsTer2)] Both (homozygous) - likely pathogenic (recessive) g.36550932G>C g.36060030G>C - - WDR62_000118 - PubMed: Sajid Hussain 2013, PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP14 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - 1 Johan den Dunnen
+/. 3 c.332G>C r.[270_332del,332_333ins332+1_332+87] p.[Cys91_Arg111del,Arg111ThrfsTer2] Both (homozygous) - pathogenic (recessive) g.36550932G>C g.36060030G>C - - WDR62_000118 - PubMed: Ahmad 2017 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - microcephaly MCP129 PubMed: Ahmad 2017 7-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives F;M yes Pakistan Baloch - - - - 4 Johan den Dunnen
?/. - c.497A>G r.(?) p.(Asn166Ser) Unknown - VUS g.36557265A>G g.36066363A>G WDR62(NM_001083961.1):c.497A>G (p.(Asn166Ser)) - WDR62_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.511G>A r.(?) p.(Val171Met) Both (homozygous) - VUS g.36557279G>A g.36066377G>A - - WDR62_000004 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - (Germany) - - - - - 1 IMGAG
-/. - c.562-13C>T r.(=) p.(=) Unknown - benign g.36558195C>T g.36067293C>T WDR62(NM_001083961.1):c.562-13C>T - WDR62_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.562-13C>T r.(=) p.(=) Unknown - benign g.36558195C>T g.36067293C>T WDR62(NM_001083961.1):c.562-13C>T - WDR62_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.570C>T r.(?) p.(Ile190=) Unknown - likely benign g.36558216C>T - WDR62(NM_001083961.1):c.570C>T (p.I190=) - WDR62_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 6 c.589G>A r.(?) p.(Val197Ile) Both (homozygous) - likely benign g.36558235G>A g.36067333G>A - - WDR62_000075 - PubMed: Santos-Cortez 2016, Journal: Santos-Cortez 2016 - - Germline no - - - - DNA SEQ, SEQ-NG - WES DFNB 26805784-FamDEM4154 PubMed: Santos-Cortez 2016, Journal: Santos-Cortez 2016 5-generation family, 7 affecteds (4F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 7 Johan den Dunnen
?/. - c.589G>A r.(?) p.(Val197Ile) Unknown - VUS g.36558235G>A - WDR62(NM_001083961.2):c.589G>A (p.V197I) - WDR62_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.656G>A r.(?) p.(Arg219His) Unknown - likely benign g.36558302G>A - WDR62(NM_173636.4):c.656G>A (p.(Arg219His)) - WDR62_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.660T>C r.(?) p.(His220=) Unknown - likely benign g.36558306T>C g.36067404T>C WDR62(NM_001083961.1):c.660T>C (p.H220=) - WDR62_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.700-18C>T r.(=) p.(=) Unknown - benign g.36558712C>T g.36067810C>T WDR62(NM_001083961.1):c.700-18C>T, WDR62(NM_001083961.2):c.700-18C>T - WDR62_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.700-18C>T r.(=) p.(=) Unknown - benign g.36558712C>T g.36067810C>T WDR62(NM_001083961.1):c.700-18C>T, WDR62(NM_001083961.2):c.700-18C>T - WDR62_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.700-18C>T r.(=) p.(=) Unknown - benign g.36558712C>T g.36067810C>T WDR62(NM_001083961.1):c.700-18C>T, WDR62(NM_001083961.2):c.700-18C>T - WDR62_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.744C>T r.(?) p.(Gly248=) Unknown - VUS g.36558774C>T g.36067872C>T - - WDR62_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.764_766del r.(?) p.(Phe255del) Unknown - likely benign g.36558794_36558796del g.36067892_36067894del WDR62(NM_001083961.1):c.761_763del (p.(Phe255del)) - WDR62_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.866A>G r.(?) p.(Lys289Arg) Unknown - benign g.36558896A>G g.36067994A>G WDR62(NM_001083961.1):c.866A>G (p.K289R) - WDR62_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7i_9i c.883-1272_1234-850del r.(883_1233del) p.? Both (homozygous) - pathogenic (recessive) g.36561186_36571485del g.36070284_36080583dele 883-1273_1237-850del - WDR62_000119 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam17 PubMed: Wang 2017 5-generation family, 5 affected (5F), unaffected heterozygous parents/relatives F yes Pakistan - - - - - 5 Johan den Dunnen
?/. - c.938C>A r.(?) p.(Thr313Lys) Unknown - VUS g.36562513C>A g.36071611C>A WDR62(NM_001083961.1):c.938C>A (p.(Thr313Lys)) - WDR62_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1043+3A>G r.spl? p.? Unknown - VUS g.36562621A>G g.36071719A>G WDR62(NM_001083961.1):c.1043+3A>G - WDR62_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1043+3A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.36562621A>G g.36071719A>G - - WDR62_000080 - PubMed: Duerinckx 2021 - - Germline - - - - - DNA SEQ-NG - - microcephaly Pat35 PubMed: Duerinckx 2021 patient M no Belgium - - - - - 1 Johan den Dunnen
+/. - c.1043+3A>G r.spl p.? Parent #1 - pathogenic (recessive) g.36562621A>G g.36071719A>G - - WDR62_000080 - PubMed: Duerinckx 2021 - - Germline - - - - - DNA SEQ-NG - - microcephaly Pat36 PubMed: Duerinckx 2021 patient M no Belgium - - - - - 1 Johan den Dunnen
?/. - c.1169A>G r.(?) p.(Asp390Gly) Unknown - VUS g.36564369A>G g.36073467A>G WDR62(NM_001083961.1):c.1169A>G (p.D390G) - WDR62_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1194G>A r.(?) p.(Trp398Ter) Both (homozygous) - pathogenic (recessive) g.36564394G>A g.36073492G>A - - WDR62_000120 - PubMed: Sajid Hussain 2013 - - Germline - - - - - DNA SEQ - - microcephaly MCP1 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.1218C>T r.(?) p.(Tyr406=) Unknown - likely benign g.36564418C>T g.36073516C>T WDR62(NM_001083961.1):c.1218C>T (p.Y406=) - WDR62_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1233+13C>T r.(=) p.(=) Unknown - benign g.36564446C>T g.36073544C>T WDR62(NM_001083961.1):c.1233+13C>T - WDR62_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1233+13C>T r.(=) p.(=) Unknown - benign g.36564446C>T g.36073544C>T WDR62(NM_001083961.1):c.1233+13C>T - WDR62_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1313G>A r.(?) p.(Arg438His) Both (homozygous) - likely pathogenic (recessive) g.36572414G>A g.36081512G>A - - WDR62_000121 - PubMed: Sajid Hussain 2013 - - Germline - - - - - DNA SEQ - - microcephaly MCP28 PubMed: Sajid Hussain 2013 family, 3 affected - - Pakistan - - - - - 3 Johan den Dunnen
-?/. - c.1370A>G r.(?) p.(Asn457Ser) Unknown - likely benign g.36572471A>G - WDR62(NM_001083961.1):c.1370A>G (p.N457S) - WDR62_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1371+12C>T r.(=) p.(=) Unknown - benign g.36572484C>T g.36081582C>T WDR62(NM_001083961.1):c.1371+12C>T - WDR62_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1425G>A r.(?) p.(Met475Ile) Unknown - likely benign g.36574018G>A g.36083116G>A WDR62(NM_001083961.1):c.1425G>A (p.M475I) - WDR62_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1470C>T r.(?) p.(Asp490=) Unknown - benign g.36574063C>T g.36083161C>T WDR62(NM_001083961.1):c.1470C>T (p.D490=) - WDR62_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1470C>T r.(?) p.(Asp490=) Unknown - benign g.36574063C>T g.36083161C>T WDR62(NM_001083961.1):c.1470C>T (p.D490=) - WDR62_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1521G>A r.spl p.? Parent #1 - pathogenic (recessive) g.36574114G>A g.36083212G>A - - WDR62_000116 - PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 - - Germline - - - - - DNA SEQ-NG - - microcephaly Pan14;Pat37 PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 family, 2 affected sisters F no Belgium - - - - - 2 Johan den Dunnen
+?/. - c.1526C>T r.(?) p.(Ser509Leu) Both (homozygous) - likely pathogenic (recessive) g.36574119C>T g.36083217C>T - - WDR62_000122 - PubMed: Duerinckx 2021 - - Germline - - - - - DNA SEQ-NG - - microcephaly Pat34 PubMed: Duerinckx 2021 patient M yes Turkey - - - - - 1 Johan den Dunnen
+?/. - c.1531G>A r.(?) p.(Asp511Asn) Parent #1 - likely pathogenic (recessive) g.36574124G>A g.36083222G>A - - WDR62_000123 - PubMed: Duerinckx 2021 - - Germline - - - - - DNA SEQ-NG - - microcephaly Pat32 PubMed: Duerinckx 2021 patient M no - white - - - - 1 Johan den Dunnen
+/. - c.1531G>A r.(?) p.(Asp511Asn) Parent #1 - pathogenic (recessive) g.36574124G>A g.36083222G>A - - WDR62_000123 - PubMed: Duerinckx 2021 - - Germline - - - - - DNA SEQ-NG - - microcephaly Pat33 PubMed: Duerinckx 2021 patient F no Belgium - - - - - 1 Johan den Dunnen
?/. - c.1576G>A r.(?) p.(Glu526Lys) Unknown - VUS g.36575580G>A - WDR62(NM_001083961.2):c.1576G>A (p.(Glu526Lys)) - WDR62_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1598A>G r.(?) p.(His533Arg) Both (homozygous) ACMG VUS g.36575602A>G - - - WDR62_000102 - - - - Germline yes - - - - DNA SEQ, SEQ-NG Blood WES MCPH2 WDR62-affected male - - M yes Iran Persian 11y? - - - 1 Ehsan Razmara
+?/. - c.1598A>G r.(?) p.(His533Arg) Both (homozygous) ACMG likely pathogenic (recessive) g.36575602A>G g.36084700A>G - - WDR62_000102 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M202 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - 2 Johan den Dunnen
-/. - c.1641G>A r.(?) p.(Thr547=) Unknown - benign g.36575645G>A g.36084743G>A WDR62(NM_001083961.1):c.1641G>A (p.T547=) - WDR62_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1641G>A r.(?) p.(Thr547=) Unknown - benign g.36575645G>A g.36084743G>A WDR62(NM_001083961.1):c.1641G>A (p.T547=) - WDR62_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1642+8C>T r.(=) p.(=) Unknown - likely benign g.36575654C>T g.36084752C>T WDR62(NM_001083961.1):c.1642+8C>T (p.(=)) - WDR62_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1642+8C>T r.(=) p.(=) Unknown - likely benign g.36575654C>T g.36084752C>T WDR62(NM_001083961.1):c.1642+8C>T (p.(=)) - WDR62_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1643-10C>T r.(=) p.(=) Unknown - benign g.36577579C>T g.36086677C>T WDR62(NM_001083961.1):c.1643-10C>T - WDR62_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1643-10C>T r.(=) p.(=) Unknown - benign g.36577579C>T g.36086677C>T WDR62(NM_001083961.1):c.1643-10C>T - WDR62_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1724C>T r.(?) p.(Thr575Met) Unknown - VUS g.36577670C>T g.36086768C>T WDR62(NM_001083961.1):c.1724C>T (p.T575M) - WDR62_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1742C>T r.(?) p.(Ser581Phe) Unknown - VUS g.36577688C>T g.36086786C>T WDR62(NM_001083961.1):c.1742C>T (p.(Ser581Phe)) - WDR62_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1768+18C>T r.(=) p.(=) Unknown - benign g.36577732C>T g.36086830C>T - - WDR62_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1769-7C>T r.(=) p.(=) Unknown - likely benign g.36579933C>T g.36089031C>T WDR62(NM_001083961.1):c.1769-7C>T - WDR62_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1822del r.(?) p.(Arg608AlafsTer18) Unknown - pathogenic g.36579993del g.36089091del - - WDR62_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1836+2T>G r.spl? p.? Unknown - VUS g.36580009T>G - WDR62(NM_001083961.1):c.1836+2T>G - WDR62_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1873G>A r.(?) p.(Val625Ile) Unknown - VUS g.36580123G>A g.36089221G>A WDR62(NM_001083961.1):c.1873G>A (p.V625I) - WDR62_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1903G>C r.(?) p.(Asp635His) Unknown - VUS g.36580153G>C g.36089251G>C WDR62(NM_001083961.1):c.1903G>C (p.D635H) - WDR62_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 15i c.1959-2A>G r.spl p.? Both (homozygous) - likely pathogenic g.36581345A>G g.36090443A>G - - WDR62_000105 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2563 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.1987A>C r.(?) p.(Lys663Gln) Unknown - likely benign g.36581375A>C g.36090473A>C WDR62(NM_001083961.1):c.1987A>C (p.(Lys663Gln)) - WDR62_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2035-125C>T r.(=) p.(=) Both (homozygous) - VUS g.36581977C>T g.36091075C>T - - WDR62_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2035-115T>A r.(=) p.(=) Unknown - VUS g.36581987T>A g.36091085T>A - - WDR62_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2035-115T>C r.(=) p.(=) Unknown - VUS g.36581987T>C g.36091085T>C - - WDR62_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2112G>A r.(?) p.(=) Unknown - VUS g.36582179G>A - WDR62(NM_001083961.2):c.2112G>A (p.(Ser704=)) - WDR62_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2146+1G>A r.spl? p.? Unknown - likely pathogenic g.36582214G>A g.36091312G>A - - WDR62_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.2210G>C r.(?) p.(Ser737Thr) Both (homozygous) - VUS g.36582367G>C g.36091465G>C - - WDR62_000106 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-193 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.2211-4G>A r.spl? p.? Unknown - likely benign g.36583587G>A - WDR62(NM_001083961.2):c.2211-4G>A - WDR62_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2271G>A r.(?) p.(Leu757=) Unknown - benign g.36583651G>A g.36092749G>A WDR62(NM_001083961.1):c.2271G>A (p.L757=) - WDR62_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2271G>A r.(?) p.(Leu757=) Unknown - benign g.36583651G>A g.36092749G>A WDR62(NM_001083961.1):c.2271G>A (p.L757=) - WDR62_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2281C>T r.(?) p.(His761Tyr) Unknown - benign g.36583661C>T g.36092759C>T WDR62(NM_001083961.1):c.2281C>T (p.H761Y) - WDR62_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2312A>G r.(?) p.(Lys771Arg) Unknown - benign g.36583692A>G g.36092790A>G WDR62(NM_001083961.1):c.2312A>G (p.K771R) - WDR62_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2334-29C>T r.(=) p.(=) Unknown - benign g.36584904C>T g.36094002C>T WDR62(NM_001083961.1):c.2334-29C>T - WDR62_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2334-6C>A r.(=) p.(=) Unknown - benign g.36584927C>A g.36094025C>A WDR62(NM_001083961.1):c.2334-6C>A - WDR62_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2343G>A r.(?) p.(Thr781=) Unknown - VUS g.36584942G>A g.36094040G>A - - WDR62_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2418T>G r.(?) p.(Cys806Trp) Unknown - VUS g.36585017T>G g.36094115T>G WDR62(NM_001083961.1):c.2418T>G (p.C806W) - WDR62_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2467+46_2467+47del r.(=) p.(=) Unknown - benign g.36585112_36585113del g.36094210_36094211del WDR62(NM_001083961.1):c.2467+46_2467+47delAT - WDR62_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2508G>A r.(?) p.(Trp836Ter) Both (homozygous) - pathogenic g.36587969G>A g.36097067G>A - - WDR62_000094 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.2508G>A r.(?) p.(Trp836Ter) Unknown - pathogenic g.36587969G>A g.36097067G>A WDR62(NM_001083961.2):c.2508G>A (p.W836*) - WDR62_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2508G>A r.(?) p.(Trp836Ter) Both (homozygous) - pathogenic (recessive) g.36587969G>A g.36097067G>A - - WDR62_000094 - PubMed: Froukh 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD TF022 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - 1 Johan den Dunnen
+?/. - c.2520+1G>T r.spl p.(Leu840Leufs*95) Both (homozygous) - likely pathogenic (recessive) g.36587982G>T g.36097080G>T - - WDR62_000101 - PubMed: Riazuddin 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID PKMR152 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.2520+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.36587986G>T g.36097084G>T - - WDR62_000095 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMCP77APat3 PubMed: Santos-Cortez 2018 5-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - 4 Johan den Dunnen
+/. - c.2520+5G>T r.spl p.? Unknown - pathogenic (recessive) g.36587986G>T g.36097084G>T - - WDR62_000095 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMCP77APat5 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.2520+5G>T r.spl p.? Unknown - pathogenic (recessive) g.36587986G>T g.36097084G>T - - WDR62_000095 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMCP77APat8 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.2520+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.36587986G>T g.36097084G>T - - WDR62_000095 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMCP77BPat7 PubMed: Santos-Cortez 2018 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. 21i c.2520+5G>T r.(2468_2520del) p.? Both (homozygous) - pathogenic (recessive) g.36587986G>T g.36097084G>T - - WDR62_000095 effect on splicing predicted from mini-gene splicing assay PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam43 PubMed: Wang 2017 4-generation family, 2 affected (2F), unaffected heterozygous parents/relatives3 F yes Pakistan - - - - - 2 Johan den Dunnen
-/. - c.2549T>C r.(?) p.(Leu850Ser) Unknown - benign g.36590329T>C g.36099427T>C WDR62(NM_001083961.1):c.2549T>C (p.L850S), WDR62(NM_001083961.2):c.2549T>C (p.L850S) - WDR62_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2549T>C r.(?) p.(Leu850Ser) Unknown - benign g.36590329T>C g.36099427T>C WDR62(NM_001083961.1):c.2549T>C (p.L850S), WDR62(NM_001083961.2):c.2549T>C (p.L850S) - WDR62_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2549T>C r.(?) p.(Leu850Ser) Unknown - benign g.36590329T>C g.36099427T>C WDR62(NM_001083961.1):c.2549T>C (p.L850S), WDR62(NM_001083961.2):c.2549T>C (p.L850S) - WDR62_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2560G>A r.(?) p.(Ala854Thr) Unknown - likely benign g.36590340G>A - WDR62(NM_001083961.1):c.2560G>A (p.A854T) - WDR62_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2605G>A r.(?) p.(Gly869Ser) Unknown - likely benign g.36590385G>A g.36099483G>A WDR62(NM_001083961.1):c.2605G>A (p.G869S) - WDR62_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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