Full data view for gene WDR19

Part of the "Eye disease databases"
Information The variants shown are described using the NM_025132.3 transcript reference sequence.

236 entries on 3 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.-15G>T r.(?) p.(=) Unknown - benign g.39184163G>T g.39182543G>T WDR19(NM_025132.3):c.-15G>T, WDR19(NM_025132.4):c.-15G>T - WDR19_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-15G>T r.(?) p.(=) Unknown - likely benign g.39184163G>T g.39182543G>T WDR19(NM_025132.3):c.-15G>T, WDR19(NM_025132.4):c.-15G>T - WDR19_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-9A>G r.(?) p.(=) Unknown - benign g.39184169A>G g.39182549A>G WDR19(NM_025132.3):c.-9A>G - WDR19_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.6+1G>T r.spl p.? Maternal (confirmed) ACMG pathogenic g.39184184G>T g.39182564G>T c.6+1(IVS1)G>T - WDR19_000141 - PubMed: Tang 2022, Journal: Tang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 415 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
?/. - c.6+6_6+8del r.(=) p.(=) Unknown - VUS g.39184189_39184191del g.39182569_39182571del WDR19(NM_025132.4):c.6+6_6+8delTAA - WDR19_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 2 c.20T>C r.(?) p.(Leu7Pro) Paternal (confirmed) - likely pathogenic g.39187359T>C g.39185739T>C - - WDR19_000003 - PubMed: Bredrup 2011 - - Unknown yes - - - - DNA SEQ ? - SRTD1 - PubMed: Bredrup 2011, PubMed: de Vries 2010 - F ? Netherlands ? - - - - 1 Heleen Arts
+?/? 2 c.20T>C r.(?) p.(Leu7Pro) Maternal (confirmed) - likely pathogenic g.39187359T>C g.39185739T>C - - WDR19_000003 - PubMed: Bredrup 2011 - - Unknown yes - - - - DNA SEQ ? - SRTD1 - PubMed: Bredrup 2011, PubMed: de Vries 2010 - F ? Netherlands ? - - - - 1 Heleen Arts
+/. - c.31_35del r.(?) p.(Thr11Alafs*23) Unknown - pathogenic g.39187370_39187374del - WDR19(NM_025132.4):c.31_35delACTTG (p.T11Afs*23) - WDR19_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.89_90insTACT r.(?) p.(Val31Thrfs*6) Unknown - likely pathogenic g.39187428_39187429insTACT g.39185808_39185809insTACT c.89_90insTACT, p.Val31ThrfsTer6 - WDR19_000123 heterozygous PubMed: Zampaglione-2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-244 PubMed: Zampaglione-2020 - ? - - - - - - - 1 LOVD
-/. - c.98+85G>T r.(=) p.(=) Unknown - benign g.39187522G>T g.39185902G>T WDR19(NM_025132.4):c.98+85G>T - WDR19_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.142del r.(?) p.(Arg48GlufsTer22) Unknown - VUS g.39188202del g.39186582del 137delA - WDR19_000115 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#024 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/? 4 c.203T>A r.(?) p.(Val68Asp) Parent #1 - VUS g.39191314T>A g.39189694T>A - - WDR19_000008 SNP PubMed: Coussa 2013 - - Unknown yes - - - - DNA SEQ ? - SLSN - PubMed: Coussa 2013 - ? ? - ? - - - - 1 Heleen Arts
?/. - c.269G>A r.(?) p.(Ser90Asn) Unknown - VUS g.39191380G>A g.39189760G>A WDR19(NM_025132.4):c.269G>A (p.S90N) - WDR19_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5i c.407-2A>G r.spl p.? Unknown - pathogenic g.39201096A>G g.39199476A>G - - WDR19_000009 - PubMed: Coussa 2013 - - Unknown yes - - - - DNA SEQ ? - SLSN - PubMed: Coussa 2013 - ? ? - ? - - - - 1 Heleen Arts
+/. 6 c.475G>A r.(?) p.(Asp159Asn) Unknown - pathogenic (recessive) g.39201166G>A - NM_025132.3:c.475G>A - WDR19_000127 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R04-526A PubMed: Zhang-2019 - - - - white - - - - 1 LOVD
-?/. - c.490G>A r.(?) p.(Val164Ile) Unknown - likely benign g.39201181G>A g.39199561G>A WDR19(NM_025132.3):c.490G>A (p.V164I) - WDR19_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.523-3T>C r.spl? p.? Unknown - likely benign g.39205259T>C g.39203639T>C WDR19(NM_025132.3):c.523-3T>C, WDR19(NM_025132.4):c.523-3T>C - WDR19_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.523-3T>C r.spl? p.? Unknown - likely benign g.39205259T>C g.39203639T>C WDR19(NM_025132.3):c.523-3T>C, WDR19(NM_025132.4):c.523-3T>C - WDR19_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.523-3T>C r.spl? p.? Unknown - likely benign g.39205259T>C - WDR19(NM_025132.3):c.523-3T>C, WDR19(NM_025132.4):c.523-3T>C - WDR19_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.530T>G r.(?) p.(Val177Gly) Paternal (confirmed) ACMG VUS g.39205269T>G - - - WDR19_000110 - - - - Germline yes - - - - DNA SEQ - - SRTD - - - - - (Brazil) - - - - - 1 Cynthia Silveira
+?/. - c.535T>C r.(?) p.(Ser179Pro) Both (homozygous) ACMG likely pathogenic (recessive) g.39205274T>C - - - WDR19_000111 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - CED 03149 - - F ? Argentina - - - - - 1 Maria Dora Jazmin Lacarrubba-Flores
-?/. - c.553C>G r.(?) p.(Gln185Glu) Unknown - likely benign g.39205292C>G g.39203672C>G WDR19(NM_025132.3):c.553C>G (p.Q185E), WDR19(NM_025132.4):c.553C>G (p.Q185E) - WDR19_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.553C>G r.(?) p.(Gln185Glu) Unknown - likely benign g.39205292C>G - WDR19(NM_025132.3):c.553C>G (p.Q185E), WDR19(NM_025132.4):c.553C>G (p.Q185E) - WDR19_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.603+23C>T r.(=) p.(=) Unknown - benign g.39205365C>T g.39203745C>T WDR19(NM_025132.4):c.603+23C>T - WDR19_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.604-4G>T r.spl? p.? Unknown - likely benign g.39206770G>T - WDR19(NM_025132.3):c.604-4G>T - WDR19_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8 c.641dup r.(?) p.(Leu214Phefs*5) Parent #1 - pathogenic g.39206811dup g.39205191dup - - WDR19_000007 - PubMed: Coussa 2013 - - Unknown yes - - - - DNA SEQ ? - SLSN - PubMed: Coussa 2013 - ? ? - ? - - - - 1 Heleen Arts
+/. - c.641T>A r.(?) p.(Leu214Ter) Unknown - pathogenic g.39206811T>A g.39205191T>A WDR19(NM_025132.4):c.641T>A (p.L214*) - WDR19_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.641T>A r.(?) p.(Leu214Ter) Unknown - pathogenic g.39206811T>A - WDR19(NM_025132.4):c.641T>A (p.L214*) - WDR19_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8 c.682C>T r.(?) p.(Gln228*) Parent #1 - pathogenic g.39206852C>T g.39205232C>T - - WDR19_000010 - PubMed: Halbritter 2013 - - Unknown yes - - - - DNA SEQ ? - Caroli - PubMed: Halbritter 2013 - ? ? Egypt ? - - - - 1 Heleen Arts
+/. 9 c.746T>C r.(?) p.(Phe249Ser) Unknown - pathogenic (recessive) g.39207212T>C - NM_025132.3:c.746T>C - WDR19_000128 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R09-396A PubMed: Zhang-2019 - - - - African American - - - - 1 LOVD
+/. 9 c.781dup r.(?) p.(Thr261Asnfs*13) Unknown - pathogenic (recessive) g.39207247dup - NM_025132.3:c.781dup - WDR19_000129 Variant published before in Halbritter 2013 as Het PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R01-210A PubMed: Zhang-2019 - - - - white - - - - 1 LOVD
-?/. - c.785G>A r.(?) p.(Gly262Glu) Unknown - likely benign g.39207251G>A g.39205631G>A WDR19(NM_025132.3):c.785G>A (p.G262E) - WDR19_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.812C>T r.(?) p.(Ala271Val) Paternal (confirmed) ACMG likely pathogenic (recessive) g.39207278C>T - - - WDR19_000112 - - - - Germline - - - - - DNA SEQ-NG-I - - CED 03149 - - F no Brazil - - - - - 1 Maria Dora Jazmin Lacarrubba-Flores
?/. - c.814C>T r.(?) p.(Arg272Cys) Unknown - VUS g.39207280C>T - WDR19(NM_025132.3):c.814C>T (p.R272C) - WDR19_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.817A>G r.(?) p.(Asn273Asp) Unknown - pathogenic (recessive) g.39207283A>G - NM_025132.3:c.817A>G - WDR19_000130 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R00-304 PubMed: Zhang-2019 - - - - white - - - - 1 LOVD
+/. 9 c.817A>G r.(?) p.(Asn273Asp) Unknown - pathogenic (recessive) g.39207283A>G - NM_025132.3:c.817A>G - WDR19_000130 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R05-449C PubMed: Zhang-2019 - - - - white - - - - 1 LOVD
-/. - c.852A>G r.(?) p.(Ser284=) Unknown - benign g.39207318A>G g.39205698A>G WDR19(NM_025132.3):c.852A>G (p.S284=) - WDR19_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.852A>G r.(?) p.(Ser284=) Unknown - benign g.39207318A>G g.39205698A>G WDR19(NM_025132.3):c.852A>G (p.S284=) - WDR19_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.880G>A r.(?) p.(Gly294Arg) Unknown - pathogenic (recessive) g.39207346G>A - NM_025132.3:c.880G>A - WDR19_000131 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R01-210A PubMed: Zhang-2019 - - - - white - - - - 1 LOVD
-/. - c.891C>T r.(?) p.(Cys297=) Unknown - benign g.39216221C>T g.39214601C>T WDR19(NM_025132.4):c.891C>T (p.C297=) - WDR19_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.891C>T r.(?) p.(Cys297=) Unknown - benign g.39216221C>T g.39214601C>T WDR19(NM_025132.4):c.891C>T (p.C297=) - WDR19_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.901C>T r.(?) p.(Gln301*) Maternal (confirmed) ACMG likely pathogenic (recessive) g.39216231C>T - - - WDR19_000113 - - - - Germline - - - - - DNA SEQ-NG-I - - CED 03149 - - F no Brazil - - - - - 1 Maria Dora Jazmin Lacarrubba-Flores
-/. - c.910G>A r.(?) p.(Val304Ile) Unknown - benign g.39216240G>A g.39214620G>A WDR19(NM_025132.3):c.910G>A (p.V304I), WDR19(NM_025132.4):c.910G>A (p.V304I) - WDR19_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.910G>A r.(?) p.(Val304Ile) Unknown - benign g.39216240G>A g.39214620G>A WDR19(NM_025132.3):c.910G>A (p.V304I), WDR19(NM_025132.4):c.910G>A (p.V304I) - WDR19_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.910G>A r.(?) p.(Val304Ile) Parent #1 - likely benign g.39216240G>A g.39214620G>A - - WDR19_000027 106 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75964850 Germline - 106/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 106 Mohammed Faruq
-?/. - c.910G>A r.(?) p.(Val304Ile) Both (homozygous) - likely benign g.39216240G>A g.39214620G>A - - WDR19_000027 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75964850 Germline - 3/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-/. - c.916T>C r.(?) p.(Leu306=) Unknown - benign g.39216246T>C g.39214626T>C WDR19(NM_025132.3):c.916T>C (p.L306=), WDR19(NM_025132.4):c.916T>C (p.L306=) - WDR19_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.916T>C r.(?) p.(Leu306=) Unknown - likely benign g.39216246T>C - WDR19(NM_025132.3):c.916T>C (p.L306=), WDR19(NM_025132.4):c.916T>C (p.L306=) - WDR19_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002A>G r.(?) p.(Leu334=) Unknown - likely benign g.39217501A>G g.39215881A>G WDR19(NM_025132.3):c.1002A>G (p.L334=) - WDR19_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1031A>G r.(?) p.(His344Arg) Parent #1 - likely pathogenic g.39217530A>G g.39215910A>G - - WDR19_000106 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 825 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/? 11 c.1034T>G r.(?) p.(Val345Gly) Maternal (confirmed) - likely pathogenic g.39217533T>G g.39215913T>G - - WDR19_000005 - PubMed: Bredrup 2011 - - Unknown yes - - - - DNA SEQ ? - NPHP1 - PubMed: Bredrup 2011 Brother of patients NPHP II-3, NPHP II-5 and NPHP II-6 M ? Morocco ? - - - - 1 Heleen Arts
+?/? 11 c.1034T>G r.(?) p.(Val345Gly) Maternal (confirmed) - likely pathogenic g.39217533T>G g.39215913T>G - - WDR19_000005 - PubMed: Bredrup 2011 - - Unknown yes - - - - DNA SEQ ? - NPHP1 - PubMed: Bredrup 2011 Sister of patients NPHP II-1, NPHP II-5 and NPHP II-6 F ? Morocco ? - - - - 1 Heleen Arts
+?/? 11 c.1034T>G r.(?) p.(Val345Gly) Maternal (confirmed) - likely pathogenic g.39217533T>G g.39215913T>G - - WDR19_000005 - PubMed: Bredrup 2011 - - Unknown yes - - - - DNA SEQ ? - NPHP1 - PubMed: Bredrup 2011 Sister of patients NPHP II-1, NPHP II-3 and NPHP II-6 F ? Morocco ? - - - - 1 Heleen Arts
+?/? 11 c.1034T>G r.(?) p.(Val345Gly) Maternal (confirmed) - likely pathogenic g.39217533T>G g.39215913T>G - - WDR19_000005 - PubMed: Bredrup 2011 - - Unknown yes - - - - DNA SEQ ? - NPHP1 - PubMed: Bredrup 2011 Sister of patients NPHP II-1, NPHP II-3 and NPHP II-5 F ? Morocco ? - - - - 1 Heleen Arts
-?/. - c.1039C>T r.(?) p.(Leu347=) Unknown - likely benign g.39217538C>T - WDR19(NM_025132.3):c.1039C>T (p.L347=) - WDR19_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1064A>T r.(?) p.(Asp355Val) Unknown - likely benign g.39217563A>T g.39215943A>T WDR19(NM_025132.3):c.1064A>T (p.D355V, p.(Asp355Val)), WDR19(NM_025132.4):c.1064A>T (p.D355V) - WDR19_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1064A>T r.(?) p.(Asp355Val) Unknown - likely benign g.39217563A>T g.39215943A>T WDR19(NM_025132.3):c.1064A>T (p.D355V, p.(Asp355Val)), WDR19(NM_025132.4):c.1064A>T (p.D355V) - WDR19_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1064A>T r.(?) p.(Asp355Val) Unknown - likely benign g.39217563A>T - WDR19(NM_025132.3):c.1064A>T (p.D355V, p.(Asp355Val)), WDR19(NM_025132.4):c.1064A>T (p.D355V) - WDR19_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1118C>G r.(?) p.(Ala373Gly) Unknown - likely benign g.39217617C>G - WDR19(NM_025132.3):c.1118C>G (p.A373G) - WDR19_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1168C>A r.(?) p.(Pro390Thr) Unknown - VUS g.39217749C>A - WDR19(NM_025132.3):c.1168C>A (p.P390T) - WDR19_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1198C>T r.(?) p.(Leu400=) Unknown - VUS g.39217779C>T g.39216159C>T WDR19(NM_025132.3):c.1198C>T (p.L400=), WDR19(NM_025132.4):c.1198C>T (p.L400=) - WDR19_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1198C>T r.(?) p.(Leu400=) Unknown - likely benign g.39217779C>T g.39216159C>T WDR19(NM_025132.3):c.1198C>T (p.L400=), WDR19(NM_025132.4):c.1198C>T (p.L400=) - WDR19_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1198C>T r.(?) p.(Leu400=) Unknown - likely benign g.39217779C>T - WDR19(NM_025132.3):c.1198C>T (p.L400=), WDR19(NM_025132.4):c.1198C>T (p.L400=) - WDR19_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1248T>C r.(?) p.(Asn416=) Paternal (confirmed) ACMG VUS g.39217829T>C g.39216209T>C c.1248(exon12)T>C - WDR19_000142 - PubMed: Tang 2022, Journal: Tang 2022 - rs772867899 Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 857 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
?/. - c.1261T>A r.(?) p.(Leu421Met) Unknown - VUS g.39218765T>A g.39217145T>A WDR19(NM_025132.3):c.1261T>A (p.L421M) - WDR19_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1357-14T>A r.(=) p.(=) Unknown - likely benign g.39219589T>A - WDR19(NM_025132.4):c.1357-14T>A - chr4_004703 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1357-10T>C r.(=) p.(=) Unknown - likely benign g.39219593T>C g.39217973T>C WDR19(NM_025132.3):c.1357-10T>C, WDR19(NM_025132.4):c.1357-10T>C - WDR19_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1357-10T>C r.(=) p.(=) Unknown - benign g.39219593T>C g.39217973T>C WDR19(NM_025132.3):c.1357-10T>C, WDR19(NM_025132.4):c.1357-10T>C - WDR19_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1357-8C>T r.(=) p.(=) Unknown - likely benign g.39219595C>T g.39217975C>T WDR19(NM_025132.4):c.1357-8C>T - WDR19_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1434C>G r.(?) p.(Ile478Met) Unknown - VUS g.39219680C>G g.39218060C>G - - WDR19_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1434C>G r.(?) p.(Ile478Met) Both (homozygous) - pathogenic (recessive) g.39219680C>G g.39218060C>G NM_025132.3:c.1434C>G:p.(Ile478Met) - WDR19_000069 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 16DG0371 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - 1 LOVD
?/. - c.1451C>T r.(?) p.(Thr484Ile) Unknown - VUS g.39219697C>T - WDR19(NM_025132.3):c.1451C>T (p.(Thr484Ile)) - WDR19_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1454G>T r.(?) p.(Ser485Ile) Parent #2 - likely pathogenic g.39219700G>T g.39218080G>T - - WDR19_000107 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 825 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+/? 14 c.1477G>C r.(?) p.(Asp493His) Parent #1 - pathogenic g.39219723G>C g.39218103G>C - - WDR19_000006 - PubMed: Coussa 2013 - - Unknown yes - - - - DNA SEQ ? - RP - PubMed: Coussa 2013 - F ? Canada Quebec - - - - 1 Heleen Arts
+/? 14 c.1477G>C r.(?) p.(Asp493His) Unknown - pathogenic g.39219723G>C g.39218103G>C - - WDR19_000006 - PubMed: Coussa 2013 - - Unknown yes - - - - DNA SEQ ? - SLSN - PubMed: Coussa 2013 - ? ? - ? - - - - 1 Heleen Arts
-/. - c.1480-3del r.spl? p.? Unknown - benign g.39226501del g.39224881del WDR19(NM_025132.4):c.1480-3delT - WDR19_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1480-3del r.spl? p.? Unknown - benign g.39226501del g.39224881del WDR19(NM_025132.4):c.1480-3delT - WDR19_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1480-3del r.spl? p.? Unknown - benign g.39226501del g.39224881del WDR19(NM_025132.4):c.1480-3delT - WDR19_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1480-3dup r.spl? p.? Unknown - benign g.39226501dup - WDR19(NM_025132.4):c.1480-3dupT - WDR19_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1480-1G>T r.spl? p.? Unknown - likely benign g.39226503G>T g.39224883G>T WDR19(NM_025132.3):c.1480-1G>T (p.?) - WDR19_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 15 c.1483G>C r.(?) p.(Gly495Arg) Both (homozygous) - likely pathogenic g.39226507G>C g.39224887G>C - - WDR19_000015 - PubMed: Fehrenbach H et al. 2014 - - Unknown ? - - - - DNA arraySEQ - - - - PubMed: Fehrenbach 2014 This is a new phenotype in the phenotypic spectrum associated with WDR19 mutations (not yet annotated in OMIM). The patient had hypotonia, facial dysmorphisms, psychomotor delay, short stature, mild skeletal abnormalities, strabism, deafness, subdural hygroma, hepatosplenomegaly and end-stage renal disease (tubular atrophy, interstital fibrosis and segmental glomerulosclerosis) F ? - Philippine 08y - - hemodialysis; renal transplantation 1 Heleen Arts
+/. 15 c.1483G>C r.(?) p.(Gly495Arg) Unknown - pathogenic (recessive) g.39226507G>C - NM_025132.3:c.1483G>C - WDR19_000015 Variant published before in Fehrenbach 2014; Lee 2015 as p.Gly495Cys with p.R1178Q or Hom PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R15-017A PubMed: Zhang-2019 - - - - Pacific Islander - - - - 1 LOVD
+?/. 15 c.1483G>C r.(?) p.(Gly495Arg) Unknown - likely pathogenic (recessive) g.39226507G>C - NM_025132.3:c.1483G>C - WDR19_000015 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R03-383A PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - Latino - - - - 1 LOVD
-/. - c.1486G>T r.(?) p.(Val496Phe) Unknown - benign g.39226510G>T g.39224890G>T WDR19(NM_025132.3):c.1486G>T (p.(Val496Phe)) - WDR19_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1488C>T r.(?) p.(Val496=) Unknown - likely benign g.39226512C>T g.39224892C>T WDR19(NM_025132.3):c.1488C>T (p.V496=) - WDR19_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1504A>G r.(?) p.(Ile502Val) Unknown - likely benign g.39226528A>G - WDR19(NM_025132.3):c.1504A>G (p.I502V) - WDR19_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1566C>T r.(?) p.(Pro522=) Unknown - likely benign g.39226590C>T g.39224970C>T WDR19(NM_025132.3):c.1566C>T (p.P522=) - WDR19_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1581C>A r.(?) p.(Thr527=) Unknown - benign g.39226605C>A g.39224985C>A WDR19(NM_025132.4):c.1581C>A (p.T527=) - WDR19_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 15 c.1595T>C r.(?) p.(Ile532Thr) Maternal (confirmed) ACMG likely benign g.39226619T>C g.39224999T>C c.1595(exon15)T>C - WDR19_000143 - PubMed: Tang 2022, Journal: Tang 2022 - rs749672769 Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 857 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
-/. - c.1607G>C r.(?) p.(Ser536Thr) Unknown - benign g.39226631G>C g.39225011G>C WDR19(NM_025132.4):c.1607G>C (p.S536T) - WDR19_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1607G>C r.(?) p.(Ser536Thr) Unknown - benign g.39226631G>C - WDR19(NM_025132.4):c.1607G>C (p.S536T) - WDR19_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1613G>T r.(?) p.(Gly538Val) Unknown ACMG VUS g.39226637G>T g.39225017G>T WDR19 c.1613G>T, p.(Gly538Val) - WDR19_000136 heterozygous PubMed: Kim 2021 - - Unknown ? - - - - DNA SEQ-NG - - retinal disease 172-223 PubMed: Kim 2021 - ? - Korea, South (Republic) - - - - - 1 LOVD
-?/. - c.1702A>G r.(?) p.(Met568Val) Unknown - likely benign g.39229902A>G g.39228282A>G WDR19(NM_025132.3):c.1702A>G (p.M568V) - WDR19_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.1752T>G r.(?) p.(Tyr584Ter) Unknown - VUS g.39229952T>G g.39228332T>G T1752G - WDR19_000116 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#011 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.1786G>A r.(?) p.(Val596Ile) Unknown - VUS g.39230114G>A - WDR19(NM_025132.3):c.1786G>A (p.(Val596Ile)) - WDR19_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1915A>G r.(?) p.(Ser639Gly) Unknown - likely benign g.39230243A>G g.39228623A>G WDR19(NM_025132.3):c.1915A>G (p.S639G), WDR19(NM_025132.4):c.1915A>G (p.S639G) - WDR19_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1915A>G r.(?) p.(Ser639Gly) Unknown - likely benign g.39230243A>G - WDR19(NM_025132.3):c.1915A>G (p.S639G), WDR19(NM_025132.4):c.1915A>G (p.S639G) - WDR19_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1983-10T>C r.(=) p.(=) Unknown - likely benign g.39233407T>C g.39231787T>C WDR19(NM_025132.3):c.1983-10T>C - WDR19_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17i c.1983-2A>T r.spl? p.? Unknown - pathogenic g.39233415A>T - c.1983-2A>T - WDR19_000137 - PubMed: Fuster-Garcia-2019 - - Unknown - - - - - DNA SEQ-NG blood WES retinal disease - PubMed: Fuster-Garcia-2019 - - - - Spanish - - - - 1 LOVD
-/. - c.2026G>T r.(?) p.(Ala676Ser) Unknown - benign g.39233460G>T g.39231840G>T WDR19(NM_025132.4):c.2026G>T (p.A676S) - WDR19_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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Part of the "Eye disease databases"