Unique variants in the WDR19 gene

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

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/., -?/. 2 - c.-15G>T r.(?) p.(=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.-9A>G r.(?) p.(=) - benign g.39184169A>G g.39182549A>G WDR19(NM_025132.3):c.-9A>G - WDR19_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 1i c.6+1G>T r.spl p.? ACMG pathogenic g.39184184G>T g.39182564G>T c.6+1(IVS1)G>T - WDR19_000141 - PubMed: Tang 2022, Journal: Tang 2022 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.6+6_6+8del r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
+?/? 2 2 c.20T>C r.(?) p.(Leu7Pro) - likely pathogenic g.39187359T>C g.39185739T>C - - WDR19_000003 - PubMed: Bredrup 2011 - - Unknown yes - - - - Heleen Arts
+/. 1 - c.31_35del r.(?) p.(Thr11Alafs*23) - pathogenic g.39187370_39187374del - WDR19(NM_025132.4):c.31_35delACTTG (p.T11Afs*23) - WDR19_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.89_90insTACT r.(?) p.(Val31Thrfs*6) - likely pathogenic g.39187428_39187429insTACT g.39185808_39185809insTACT c.89_90insTACT, p.Val31ThrfsTer6 - WDR19_000123 heterozygous PubMed: Zampaglione-2020 - - Unknown ? - - - - LOVD
-/. 1 - c.98+85G>T r.(=) p.(=) - benign g.39187522G>T g.39185902G>T WDR19(NM_025132.4):c.98+85G>T - WDR19_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 3 c.142del r.(?) p.(Arg48GlufsTer22) - VUS g.39188202del g.39186582del 137delA - WDR19_000115 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD
?/? 1 4 c.203T>A r.(?) p.(Val68Asp) - VUS g.39191314T>A g.39189694T>A - - WDR19_000008 SNP PubMed: Coussa 2013 - - Unknown yes - - - - Heleen Arts
?/. 1 - c.269G>A r.(?) p.(Ser90Asn) - 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 - - - - - VKGL-NL_Groningen
+/? 1 5i c.407-2A>G r.spl p.? - pathogenic g.39201096A>G g.39199476A>G - - WDR19_000009 - PubMed: Coussa 2013 - - Unknown yes - - - - Heleen Arts
+/. 1 6 c.475G>A r.(?) p.(Asp159Asn) - pathogenic (recessive) g.39201166G>A - NM_025132.3:c.475G>A - WDR19_000127 - PubMed: Zhang-2019 - - Germline - - - - - LOVD
-?/. 1 - c.490G>A r.(?) p.(Val164Ile) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.523-3T>C r.spl? p.? - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.530T>G r.(?) p.(Val177Gly) ACMG VUS g.39205269T>G - - - WDR19_000110 - - - - Germline yes - - - - Cynthia Silveira
+?/. 1 - c.535T>C r.(?) p.(Ser179Pro) ACMG likely pathogenic (recessive) g.39205274T>C - - - WDR19_000111 - - - - Germline/De novo (untested) - - - - - Maria Dora Jazmin Lacarrubba-Flores
-?/. 2 - c.553C>G r.(?) p.(Gln185Glu) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.603+23C>T r.(=) p.(=) - benign g.39205365C>T g.39203745C>T WDR19(NM_025132.4):c.603+23C>T - WDR19_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.604-4G>T r.spl? p.? - likely benign g.39206770G>T - WDR19(NM_025132.3):c.604-4G>T - WDR19_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 8 c.641dup r.(?) p.(Leu214Phefs*5) - pathogenic g.39206811dup g.39205191dup - - WDR19_000007 - PubMed: Coussa 2013 - - Unknown yes - - - - Heleen Arts
+/. 2 - c.641T>A r.(?) p.(Leu214Ter) - 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
+/? 1 8 c.682C>T r.(?) p.(Gln228*) - pathogenic g.39206852C>T g.39205232C>T - - WDR19_000010 - PubMed: Halbritter 2013 - - Unknown yes - - - - Heleen Arts
+/. 1 9 c.746T>C r.(?) p.(Phe249Ser) - pathogenic (recessive) g.39207212T>C - NM_025132.3:c.746T>C - WDR19_000128 - PubMed: Zhang-2019 - - Germline - - - - - LOVD
+/. 1 9 c.781dup r.(?) p.(Thr261Asnfs*13) - pathogenic (recessive) g.39207247dup - NM_025132.3:c.781dup - WDR19_000129 Variant published before in Halbritter 2013 as Het PubMed: Zhang-2019 - - Germline - - - - - LOVD
-?/. 1 - c.785G>A r.(?) p.(Gly262Glu) - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 9 c.812C>T r.(?) p.(Ala271Val) ACMG likely pathogenic (recessive) g.39207278C>T - - - WDR19_000112 - - - - Germline - - - - - Maria Dora Jazmin Lacarrubba-Flores
?/. 1 - c.814C>T r.(?) p.(Arg272Cys) - VUS g.39207280C>T - WDR19(NM_025132.3):c.814C>T (p.R272C) - WDR19_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 9 c.817A>G r.(?) p.(Asn273Asp) - pathogenic (recessive) g.39207283A>G - NM_025132.3:c.817A>G - WDR19_000130 - PubMed: Zhang-2019 - - Germline - - - - - LOVD
-/. 2 - c.852A>G r.(?) p.(Ser284=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 9 c.880G>A r.(?) p.(Gly294Arg) - pathogenic (recessive) g.39207346G>A - NM_025132.3:c.880G>A - WDR19_000131 - PubMed: Zhang-2019 - - Germline - - - - - LOVD
-/. 2 - c.891C>T r.(?) p.(Cys297=) - 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 - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 - c.901C>T r.(?) p.(Gln301*) ACMG likely pathogenic (recessive) g.39216231C>T - - - WDR19_000113 - - - - Germline - - - - - Maria Dora Jazmin Lacarrubba-Flores
-/., -?/. 4 - c.910G>A r.(?) p.(Val304Ile) - benign, likely 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 106 heterozygous; Clinindb (India), 3 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs75964850 CLASSIFICATION record, Germline - 106/2789 individuals, 3/2789 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Mohammed Faruq
-/., -?/. 2 - c.916T>C r.(?) p.(Leu306=) - benign, likely 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.1002A>G r.(?) p.(Leu334=) - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1031A>G r.(?) p.(His344Arg) - likely pathogenic g.39217530A>G g.39215910A>G - - WDR19_000106 - PubMed: Stone 2017 - - Germline - - - - - LOVD
+?/? 4 11 c.1034T>G r.(?) p.(Val345Gly) - likely pathogenic g.39217533T>G g.39215913T>G - - WDR19_000005 - PubMed: Bredrup 2011 - - Unknown yes - - - - Heleen Arts
-?/. 1 - c.1039C>T r.(?) p.(Leu347=) - likely benign g.39217538C>T - WDR19(NM_025132.3):c.1039C>T (p.L347=) - WDR19_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.1064A>T r.(?) p.(Asp355Val) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.1118C>G r.(?) p.(Ala373Gly) - likely benign g.39217617C>G - WDR19(NM_025132.3):c.1118C>G (p.A373G) - WDR19_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1168C>A r.(?) p.(Pro390Thr) - VUS g.39217749C>A - WDR19(NM_025132.3):c.1168C>A (p.P390T) - WDR19_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.1198C>T r.(?) p.(Leu400=) - likely benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 12 c.1248T>C r.(?) p.(Asn416=) ACMG VUS g.39217829T>C g.39216209T>C c.1248(exon12)T>C - WDR19_000142 - PubMed: Tang 2022, Journal: Tang 2022 - rs772867899 Germline - - - - - Johan den Dunnen
?/. 1 - c.1261T>A r.(?) p.(Leu421Met) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1357-14T>A r.(=) p.(=) - likely benign g.39219589T>A - WDR19(NM_025132.4):c.1357-14T>A - WDR19_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.1357-10T>C r.(=) p.(=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.1357-8C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
+/., ?/. 2 - c.1434C>G r.(?) p.(Ile478Met) - pathogenic (recessive), VUS g.39219680C>G g.39218060C>G NM_025132.3:c.1434C>G:p.(Ile478Met) - WDR19_000069 VKGL data sharing initiative Nederland PubMed: Maddirevula 2018 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1451C>T r.(?) p.(Thr484Ile) - VUS g.39219697C>T - WDR19(NM_025132.3):c.1451C>T (p.(Thr484Ile)) - WDR19_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.1454G>T r.(?) p.(Ser485Ile) - likely pathogenic g.39219700G>T g.39218080G>T - - WDR19_000107 - PubMed: Stone 2017 - - Germline - - - - - LOVD
+/? 2 14 c.1477G>C r.(?) p.(Asp493His) - pathogenic g.39219723G>C g.39218103G>C - - WDR19_000006 - PubMed: Coussa 2013 - - Unknown yes - - - - Heleen Arts
-/. 3 - c.1480-3del r.spl? p.? - benign g.39226501del g.39224881del WDR19(NM_025132.4):c.1480-3delT - WDR19_000031, WDR19_000032, WDR19_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.1480-3dup r.spl? p.? - benign g.39226501dup - WDR19(NM_025132.4):c.1480-3dupT - WDR19_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1480-1G>T r.spl? p.? - 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 - - - - - VKGL-NL_Leiden
+/., +?/., +?/? 3 15 c.1483G>C r.(?) p.(Gly495Arg) - likely pathogenic, likely pathogenic (recessive), pathogenic (recessive) g.39226507G>C g.39224887G>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: Fehrenbach H et al. 2014, PubMed: Zhang-2019 - - Germline, Unknown ? - - - - Heleen Arts
-/. 1 - c.1486G>T r.(?) p.(Val496Phe) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.1488C>T r.(?) p.(Val496=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1504A>G r.(?) p.(Ile502Val) - likely benign g.39226528A>G - WDR19(NM_025132.3):c.1504A>G (p.I502V) - WDR19_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1566C>T r.(?) p.(Pro522=) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1581C>A r.(?) p.(Thr527=) - 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 - - - - - VKGL-NL_AMC
-?/. 1 15 c.1595T>C r.(?) p.(Ile532Thr) ACMG likely benign g.39226619T>C g.39224999T>C c.1595(exon15)T>C - WDR19_000143 - PubMed: Tang 2022, Journal: Tang 2022 - rs749672769 Germline - - - - - Johan den Dunnen
-/. 2 - c.1607G>C r.(?) p.(Ser536Thr) - 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.1613G>T r.(?) p.(Gly538Val) ACMG VUS g.39226637G>T g.39225017G>T WDR19 c.1613G>T, p.(Gly538Val) - WDR19_000136 heterozygous PubMed: Kim 2021 - - Unknown ? - - - - LOVD
-?/. 1 - c.1702A>G r.(?) p.(Met568Val) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 16 c.1752T>G r.(?) p.(Tyr584Ter) - VUS g.39229952T>G g.39228332T>G T1752G - WDR19_000116 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD
?/. 1 - c.1786G>A r.(?) p.(Val596Ile) - VUS g.39230114G>A - WDR19(NM_025132.3):c.1786G>A (p.(Val596Ile)) - WDR19_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.1915A>G r.(?) p.(Ser639Gly) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.1983-10T>C r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 17i c.1983-2A>T r.spl? p.? - pathogenic g.39233415A>T - c.1983-2A>T - WDR19_000137 - PubMed: Fuster-Garcia-2019 - - Unknown - - - - - LOVD
-/. 1 - c.2026G>T r.(?) p.(Ala676Ser) - 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 - - - - - VKGL-NL_AMC
?/. 1 - c.2067G>A r.(?) p.(Met689Ile) - VUS g.39233501G>A g.39231881G>A WDR19(NM_025132.4):c.2067G>A (p.M689I) - WDR19_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 3 - c.2096G>A r.(?) p.(Arg699Gln) - benign, likely benign g.39233530G>A g.39231910G>A WDR19(NM_025132.3):c.2096G>A (p.R699Q), WDR19(NM_025132.4):c.2096G>A (p.R699Q) - WDR19_000039 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs138529452 CLASSIFICATION record, Germline - 1/2792 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Mohammed Faruq
+?/., +?/?, ?/? 6 18 c.2129T>C r.(?) p.(Leu710Ser) - likely pathogenic, VUS g.39233563T>C g.39231943T>C - - WDR19_000001 VKGL data sharing initiative Nederland PubMed: Bredrup 2011, PubMed: Coussa 2013, PubMed: Stone 2017 - - CLASSIFICATION record, Germline, Unknown yes - - - - Heleen Arts, VKGL-NL_Nijmegen
-/. 2 - c.2142+12G>A r.(=) p.(=) - benign g.39233588G>A g.39231968G>A WDR19(NM_025132.4):c.2142+12G>A - WDR19_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/., -?/. 2 - c.2151G>A r.(?) p.(Glu717=) - benign, likely benign g.39233790G>A g.39232170G>A WDR19(NM_025132.3):c.2151G>A (p.E717=), WDR19(NM_025132.4):c.2151G>A (p.E717=) - WDR19_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.2207C>A r.(?) p.(Ala736Asp) - VUS g.39233846C>A g.39232226C>A WDR19(NM_025132.4):c.2207C>A (p.A736D) - WDR19_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 19 c.2239A>G r.(?) p.(Ile747Val) ACMG likely benign g.39233878A>G g.39232258A>G c.2239(exon19)A>G, WDR19(NM_025132.3):c.2239A>G (p.(Ile747Val)) - WDR19_000085 VKGL data sharing initiative Nederland PubMed: Tang 2022, Journal: Tang 2022 - rs144335584 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Leiden
?/. 1 - c.2318_2324del r.(?) p.(Gln773LeufsTer18) - VUS g.39236450_39236456del g.39234830_39234836del WDR19(NM_025132.3):c.2318_2324delAGATACC (p.Q773Lfs*18) - WDR19_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2329A>G r.(?) p.(Ile777Val) - VUS g.39236461A>G - WDR19(NM_025132.3):c.2329A>G (p.(Ile777Val)) - WDR19_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 4 - c.2361C>T r.(?) p.(Phe787=) - benign, likely benign g.39236493C>T g.39234873C>T WDR19(NM_025132.3):c.2361C>T (p.F787=, p.(=)), WDR19(NM_025132.4):c.2361C>T (p.F787=) - WDR19_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 3 - c.2363+7C>T r.(=) p.(=) - likely benign g.39236502C>T g.39234882C>T WDR19(NM_025132.3):c.2363+7C>T (, p.(=)), WDR19(NM_025132.4):c.2363+7C>T - WDR19_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.2364-76_2364-75del r.(=) p.(=) - benign g.39241821_39241822del g.39240201_39240202del WDR19(NM_025132.4):c.2364-76_2364-75delAA - WDR19_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2364-5T>C r.spl? p.? - benign g.39241892T>C g.39240272T>C WDR19(NM_025132.4):c.2364-5T>C - WDR19_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2365G>A r.(?) p.(Gly789Ser) - VUS g.39241898G>A g.39240278G>A WDR19(NM_025132.3):c.2365G>A (p.G789S) - WDR19_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2366G>T r.(?) p.(Gly789Val) - VUS g.39241899G>T g.39240279G>T WDR19(NM_025132.3):c.2366G>T (p.G789V) - WDR19_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.2454C>T r.(?) p.(Ala818=) - benign, likely benign g.39245900C>T g.39244280C>T WDR19(NM_025132.3):c.2454C>T (p.A818=), WDR19(NM_025132.4):c.2454C>T (p.A818=) - WDR19_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.2464A>G r.(?) p.(Ile822Val) - VUS g.39245910A>G - WDR19(NM_025132.3):c.2464A>G (p.(Ile822Val)) - WDR19_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2536T>C r.(?) p.(Cys846Arg) - VUS g.39245982T>C g.39244362T>C - - WDR19_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.2561A>C r.(?) p.(Lys854Thr) ACMG likely pathogenic (recessive) g.39246007A>C g.39244387A>C c.A2561C - WDR19_000109 - PubMed: Zhang 2016 - - Germline - - - - - LOVD
-/. 1 - c.2562+19C>T r.(=) p.(=) - benign g.39246027C>T g.39244407C>T WDR19(NM_025132.4):c.2562+19C>T - WDR19_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 23 c.2563C>T r.(?) p.(Gln855*) - pathogenic (recessive) g.39246090C>T - NM_025132.3:c.2563C>T - WDR19_000132 - PubMed: Zhang-2019 - - Germline - - - - - LOVD
+/. 1 - c.2585T>C r.(?) p.(Leu862Pro) - pathogenic (recessive) g.39246112T>C g.39244492T>C NM_025132.3:c.2585T>C:p.(Leu862Pro) - WDR19_000102 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
?/. 3 - c.2608G>A r.(?) p.(Asp870Asn) ACMG VUS g.39246135G>A g.39244515G>A WDR19(NM_025132.3):c.2608G>A (p.D870N, p.(Asp870Asn)) - WDR19_000050 VKGL data sharing initiative Nederland PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs201963605 CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, Intisar Al Alawi
?/. 1 - c.2633G>A r.(?) p.(Arg878His) - VUS g.39246160G>A g.39244540G>A WDR19(NM_025132.3):c.2633G>A (p.R878H) - WDR19_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.2645+1G>T r.spl p.(?) ACMG likely pathogenic g.39246173G>T g.39244553G>T WDR19 c.2645+1G>T, p.(?) - WDR19_000138 heterozygous PubMed: Kim 2021 - - Unknown ? - - - - LOVD
?/. 1 - c.2671C>T r.(?) p.(His891Tyr) - VUS g.39247014C>T g.39245394C>T WDR19(NM_025132.3):c.2671C>T (p.H891Y) - WDR19_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2673C>T r.(?) p.(His891=) - likely benign g.39247016C>T g.39245396C>T WDR19(NM_025132.3):c.2673C>T (p.H891=) - WDR19_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2702A>G r.(?) p.(Tyr901Cys) - likely benign g.39247045A>G g.39245425A>G WDR19(NM_025132.3):c.2702A>G (p.Y901C) - WDR19_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.2715G>A r.(?) p.(Lys905=) - likely benign g.39247058G>A g.39245438G>A WDR19(NM_025132.3):c.2715G>A (p.K905=), WDR19(NM_025132.4):c.2715G>A (p.K905=) - WDR19_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
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Part of the "Eye disease databases"