Full data view for gene WDR36

Information The variants shown are described using the NM_139281.2 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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.99C>G r.(?) p.(Asp33Glu) Unknown - likely benign g.110428085C>G g.111092387C>G WDR36(NM_139281.2):c.99C>G (p.D33E) - WDR36_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.283C>G r.(?) p.(Arg95Gly) Parent #1 - pathogenic g.110428269C>G g.111092571C>G - - WDR36_000010 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES glaucoma G666 PubMed: Huang 2014 - M - China - - - - - 1 LOVD
?/. - c.290A>G r.(?) p.(Tyr97Cys) Unknown - VUS g.110428276A>G - WDR36(NM_139281.2):c.290A>G (p.Y97C) - WDR36_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.300C>T r.(?) p.(Thr100=) Unknown - likely benign g.110428286C>T - WDR36(NM_139281.2):c.300C>T (p.T100=) - WDR36_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.319C>T r.(?) p.(His107Tyr) Unknown - VUS g.110428305C>T - WDR36(NM_139281.2):c.319C>T (p.H107Y) - WDR36_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.451A>G r.(?) p.(Asn151Asp) Parent #1 - pathogenic g.110432869A>G g.111097171A>G - - WDR36_000011 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES glaucoma G674 PubMed: Huang 2014 - F - China - - - - - 1 LOVD
-?/. - c.488C>T r.(?) p.(Ala163Val) Parent #1 - likely benign g.110434448C>T g.111098750C>T - - WDR36_000006 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62376783 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.577+34_577+37dup r.spl p.? Parent #1 - pathogenic g.110434571_110434574dup g.111098873_111098876dup 577+37_577+38dupGGGT - WDR36_000012 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES glaucoma G438 PubMed: Huang 2014 - F - China - - - - - 1 LOVD
-?/. - c.586C>T r.(?) p.(Leu196=) Unknown - likely benign g.110436296C>T - WDR36(NM_139281.2):c.586C>T (p.L196=) - WDR36_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.591G>A r.(?) p.(Gln197=) Unknown - likely benign g.110436301G>A - WDR36(NM_139281.2):c.591G>A (p.Q197=) - WDR36_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.598T>G r.(?) p.(Phe200Val) Parent #1 - pathogenic g.110436308T>G g.111100609T>G - - WDR36_000013 - PubMed: Huang 2014 - - Germline - - - - - DNA SEQ-NG - WES glaucoma G387 PubMed: Huang 2014 - M - China - - - - - 1 LOVD
?/. - c.712A>G r.(?) p.(Lys238Glu) Unknown - VUS g.110438045A>G - WDR36(NM_139281.2):c.712A>G (p.K238E) - WDR36_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.790A>G r.(?) p.(Ile264Val) Unknown - benign g.110439509A>G g.111103810A>G WDR36(NM_139281.3):c.622A>G (p.I208V) - WDR36_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 7 c.856C>T r.(?) p.(Arg286Cys) Unknown - benign g.110439575C>T - WDR36 (rs144543625) - WDR36_000030 did not segregate in II:5 and II:10 PubMed: Mackay 2015 - rs144543625 Germline no - - - - DNA SEQ, SEQ-NG, microsat blood - retinal disease I:1, I:4, II:5, II:7, II:10 PubMed: Mackay 2015 - - - - African-American - - - - 5 LOVD
?/. - c.869G>C r.(?) p.(Gly290Ala) Unknown - VUS g.110439588G>C - WDR36(NM_139281.2):c.869G>C (p.G290A) - WDR36_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.898+23A>G r.spl p.? Parent #1 - pathogenic g.110439640A>G g.111103941A>G - - WDR36_000014 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES glaucoma G445 PubMed: Huang 2014 - M - China - - - - - 1 LOVD
-?/. - c.1056C>T r.(?) p.(=) Unknown - likely benign g.110440033C>T - WDR36(NM_139281.3):c.888C>T (p.(Gly296=)) - WDR36_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1057G>T r.(?) p.(Ala353Ser) Unknown - VUS g.110440034G>T - WDR36(NM_139281.2):c.1057G>T (p.A353S) - WDR36_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1057G>T r.(?) p.(Ala353Ser) Unknown - VUS g.110440034G>T - WDR36(NM_139281.2):c.1057G>T (p.A353S) - WDR36_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1064A>G r.(?) p.(Asn355Ser) Maternal (confirmed) - likely pathogenic g.110440041A>G g.111104342A>G c.1102C-->T, c.1064A-->G; p.Gln368*, p.Asn355Ser - WDR36_000019 confirmed with Sanger sequencing; heterozygous, heterozygous PubMed: Patel 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - OCA2 74 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.1397G>A r.(?) p.(Gly466Asp) Unknown - VUS g.110443041G>A - WDR36(NM_139281.2):c.1397G>A (p.G466D) - WDR36_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1586G>A r.(?) p.(Arg529Gln) Parent #1 - likely benign g.110445979G>A g.111110280G>A - - WDR36_000007 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116529882 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.1645G>A r.(?) p.(Gly549Arg) Parent #1 - pathogenic g.110446522G>A g.111110823G>A - - WDR36_000015 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES glaucoma G501 PubMed: Huang 2014 - M - China - - - - - 1 LOVD
+/. - c.1645G>A r.(?) p.(Gly549Arg) Parent #1 - pathogenic g.110446522G>A g.111110823G>A - - WDR36_000015 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES glaucoma G411 PubMed: Huang 2014 - M - China - - - - - 1 LOVD
+/. - c.1645G>A r.(?) p.(Gly549Arg) Parent #1 - pathogenic g.110446522G>A g.111110823G>A - - WDR36_000015 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES glaucoma G626 PubMed: Huang 2014 - F - China - - - - - 1 LOVD
+/. - c.1646G>A r.(?) p.(Gly549Glu) Parent #1 - pathogenic g.110446523G>A g.111110824G>A - - WDR36_000016 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES glaucoma G392 PubMed: Huang 2014 - M - China - - - - - 1 LOVD
-/. - c.1810A>G r.(?) p.(Ile604Val) Unknown - benign g.110446903A>G g.111111204A>G WDR36(NM_139281.2):c.1810A>G (p.I604V) - WDR36_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1885-20_1885-19insATATA r.(=) p.(=) Unknown - benign g.110448753_110448754insATATA - WDR36(NM_139281.2):c.1885-20_1885-19insATATA - WDR36_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1973A>G r.(?) p.(Asp658Gly) Both (homozygous) - VUS g.110454719A>G g.111119021A>G - - WDR36_000004 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs34595252 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DPDD son PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - M - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.1973A>G r.(?) p.(Asp658Gly) Parent #1 - likely benign g.110454719A>G g.111119021A>G - - WDR36_000004 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34595252 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+/. - c.2108G>A r.(?) p.(Arg703Gln) Parent #1 - pathogenic g.110456229G>A g.111120531G>A - - WDR36_000031 - PubMed: Li 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Pat56 PubMed: Li 2016 - - - China - - - - - 1 Johan den Dunnen
-/. - c.2181A>T r.(?) p.(Val727=) Unknown - benign g.110456704A>T g.111121006A>T WDR36(NM_139281.3):c.2013A>T (p.V671=) - WDR36_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2229G>A r.(?) p.(Ser743=) Unknown - likely benign g.110456752G>A - WDR36(NM_139281.2):c.2229G>A (p.S743=) - WDR36_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2635A>G r.(?) p.(Met879Val) Parent #1 - pathogenic g.110461422A>G g.111125724A>G - - WDR36_000017 - PubMed: Huang 2014 - - Germline - - - - - DNA SEQ-NG - WES glaucoma G229 PubMed: Huang 2014 - F - China - - - - - 1 LOVD
+/. - c.2635A>G r.spl p.(Met879Val) Unknown - pathogenic g.110461422A>G g.111125724A>G - - WDR36_000017 - PubMed: Huang 2014 - - Germline - - - - - DNA SEQ-NG - WES glaucoma G438 PubMed: Huang 2014 - F - China - - - - - 1 LOVD
-?/. - c.2763G>A r.(?) p.(Leu921=) Unknown - likely benign g.110462488G>A - WDR36(NM_139281.2):c.2763G>A (p.L921=) - WDR36_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2803C>T r.(?) p.(Leu935Phe) Parent #1 - pathogenic g.110462528C>T g.111126830C>T - - WDR36_000018 - PubMed: Huang 2014 - - Germline - - - - - DNA SEQ-NG - WES glaucoma G166 PubMed: Huang 2014 - F - China - - - - - 1 LOVD
-?/. - c.*93A>C r.(=) p.(=) Parent #1 - likely benign g.110462674A>C g.111126976A>C - - WDR36_000008 93 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114583874 Germline - 93/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 93 Mohammed Faruq
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