Full data view for gene WDR83OS

Information The variants shown are described using the NM_016145.3 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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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.-10919G>A r.(?) p.(=) Unknown - VUS g.12791136C>T - DHPS(NM_001930.4):c.211G>A (p.E71K) - DHPS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-10919G>A r.(?) p.(=) Unknown - VUS g.12791136C>T - DHPS(NM_001930.4):c.211G>A (p.E71K) - DHPS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-10813A>G r.(?) p.(=) Unknown - VUS g.12791030T>C - DHPS(NM_001930.4):c.317A>G (p.(Asn106Ser)) - DHPS_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10754G>A r.(?) p.(=) Unknown - likely benign g.12790971C>T - DHPS(NM_001930.4):c.372+4G>A - DHPS_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10289G>C r.(?) p.(=) Unknown - likely benign g.12790506C>G g.12679692C>G DHPS(NM_001206974.1):c.396G>C (p.(Glu132Asp)) - DHPS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6760_-6742del r.(?) p.(=) Unknown - VUS g.12786964_12786982del - DHPS(NM_001930.4):c.889-21_889-3delCGTGCCCCCGCCTCCCCAC - DHPS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6704A>G r.(?) p.(=) Unknown - likely benign g.12786921T>C - DHPS(NM_001930.4):c.924A>G (p.T308=) - DHPS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6662C>T r.(?) p.(=) Unknown - likely benign g.12786879G>A - DHPS(NM_001369691.1):c.902C>T (p.(Thr301Met)) - DHPS_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6406C>T r.(?) p.(=) Unknown - VUS g.12786623G>A - DHPS(NM_001369691.1):c.1075C>T (p.(Pro359Ser)) - DHPS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.14A>G r.(?) p.(Asn5Ser) Unknown - likely benign g.12780204T>C - WDR83OS(NM_016145.3):c.14A>G (p.(Asn5Ser)) - DHPS_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.50+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.12780167C>A g.12669353C>A - - WDR83OS_000004 - PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS NDD Fam7PatII2 PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Iran - - - - - 1 Johan den Dunnen
+/. - c.70G>T r.(?) p.(Glu24Ter) Both (homozygous) - pathogenic (recessive) g.12780028C>A g.12669214C>A - - WDR83OS_000005 - PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam9PatII1 PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 2 affected(sister/brother), unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - 2 Johan den Dunnen
+/. - c.70G>T r.(?) p.(Glu24Ter) Both (homozygous) - pathogenic (recessive) g.12780028C>A g.12669214C>A - - WDR83OS_000005 - PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam9PatII2 PubMed: Barish 2024, Journal: Barish 2024 brother M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.156+1G>T r.51_156del p.Arg17SerfsTer2 Both (homozygous) - pathogenic (recessive) g.12779941C>A g.12669127C>A - - WDR83OS_000001 - PubMed: Maddirevula 2019, PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NDD Fam7PatIV1;Fam2PatII1 PubMed: Maddirevula 2019, PubMed: Barish 2024, Journal: Barish 2024 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - 3 Johan den Dunnen
+/. - c.156+1G>T r.51_156del p.Arg17SerfsTer2 Both (homozygous) - pathogenic (recessive) g.12779941C>A g.12669127C>A - - WDR83OS_000001 - PubMed: Maddirevula 2019, PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NDD Fam7PatIV2;Fam2PatII2 PubMed: Maddirevula 2019, PubMed: Barish 2024, Journal: Barish 2024 brother M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.156+1G>T r.51_156del p.Arg17SerfsTer2 Both (homozygous) - pathogenic (recessive) g.12779941C>A g.12669127C>A - - WDR83OS_000001 - PubMed: Maddirevula 2019, PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NDD Fam7PatIV6;Fam2PatII6 PubMed: Maddirevula 2019, PubMed: Barish 2024, Journal: Barish 2024 sister F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.156+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.12779941C>A g.12669127C>A - - WDR83OS_000001 - PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4PatII1 PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Ethiopia - - - - - 1 Johan den Dunnen
+/. - c.156+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.12779941C>A g.12669127C>A - - WDR83OS_000001 - PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam5PatII2 PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Eritrea - - - - - 1 Johan den Dunnen
+/. - c.156+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.12779941C>A g.12669127C>A - - WDR83OS_000001 - PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam8PatII1 PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 3 affected sisters, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - 3 Johan den Dunnen
+/. - c.156+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.12779941C>A g.12669127C>A - - WDR83OS_000001 - PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam8PatII2 PubMed: Barish 2024, Journal: Barish 2024 sister F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.156+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.12779941C>A g.12669127C>A - - WDR83OS_000001 - PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS NDD Fam8PatII3 PubMed: Barish 2024, Journal: Barish 2024 sister F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.156+2T>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.12779940A>T g.12669126A>T - - WDR83OS_000003 - PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam6PatII2 PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Iran - - - - - 1 Johan den Dunnen
+/. - c.235C>T r.(?) p.(Gln79Ter) Both (homozygous) - pathogenic (recessive) g.12779353G>A g.12668539G>A - - WDR83OS_000006 - PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD BAB11420 PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes United States Turkey - - - - 1 Johan den Dunnen
+/. - c.255-9_255del r.spl p.? Both (homozygous) - pathogenic (recessive) g.12779239_12779248del g.12668425_12668434del 255-4_260delTCAGGCTGTC - WDR83OS_000002 - PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA SEQ-NG - - NDD Pat8;Fam3PatII2 PubMed: Rahimi 2022, PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France Morocco - - - - 1 Johan den Dunnen
-?/. - c.*1676G>C r.(=) p.(=) Unknown - likely benign g.12777497C>G - MAN2B1(NM_000528.3):c.19G>C (p.A7P) - DHPS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1705G>A r.(=) p.(=) Unknown - likely benign g.12777468C>T - MAN2B1(NM_000528.3):c.48G>A (p.L16=), MAN2B1(NM_000528.4):c.48G>A (p.L16=) - DHPS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1705G>A r.(=) p.(=) Unknown - likely benign g.12777468C>T - MAN2B1(NM_000528.3):c.48G>A (p.L16=), MAN2B1(NM_000528.4):c.48G>A (p.L16=) - DHPS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*1722G>A r.(=) p.(=) Unknown - pathogenic g.12777451C>T - MAN2B1(NM_000528.3):c.65G>A (p.W22*) - DHPS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2547T>C r.(=) p.(=) Unknown - likely benign g.12776626A>G - MAN2B1(NM_000528.3):c.160-7T>C - DHPS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2573C>T r.(=) p.(=) Unknown - VUS g.12776600G>A - MAN2B1(NM_000528.4):c.179C>T (p.(Pro60Leu)) - DHPS_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2625G>A r.(=) p.(=) Unknown - pathogenic g.12776548C>T g.12665734C>T MAN2B1(NM_000528.4):c.231G>A (p.W77*) - MAN2B1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*2658T>G r.(=) p.(=) Unknown - likely pathogenic g.12776515A>C g.12665701A>C MAN2B1(NM_000528.4):c.262+2T>G - MAN2B1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*2659G>C r.(=) p.(=) Unknown - likely pathogenic g.12776514C>G - MAN2B1(NM_000528.4):c.262+3G>C - DHPS_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2947C>T r.(=) p.(=) Unknown - VUS g.12776226G>A g.12665412G>A MAN2B1(NM_000528.3):c.376C>T (p.R126C) - MAN2B1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3392A>G r.(=) p.(=) Unknown - VUS g.12775781T>C - MAN2B1(NM_000528.3):c.455A>G (p.(Asn152Ser)) - DHPS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3489C>A r.(=) p.(=) Unknown - likely benign g.12775684G>T g.12664870G>T MAN2B1(NM_000528.3):c.552C>A (p.G184=) - DHPS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3556C>T r.(=) p.(=) Unknown - benign g.12775617G>A g.12664803G>A MAN2B1(NM_000528.4):c.619C>T (p.L207=) - MAN2B1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4612G>A r.(=) p.(=) Unknown - benign g.12774561C>T - MAN2B1(NM_000528.4):c.719G>A (p.(Arg240Gln)) - DHPS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4636C>T r.(=) p.(=) Unknown - likely benign g.12774537G>A g.12663723G>A MAN2B1(NM_000528.3):c.743C>T (p.P248L, p.(Pro248Leu)), MAN2B1(NM_000528.4):c.743C>T (p.P248L) - DHPS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4636C>T r.(=) p.(=) Unknown - likely benign g.12774537G>A - MAN2B1(NM_000528.3):c.743C>T (p.P248L, p.(Pro248Leu)), MAN2B1(NM_000528.4):c.743C>T (p.P248L) - DHPS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4636C>T r.(=) p.(=) Unknown - likely benign g.12774537G>A - MAN2B1(NM_000528.3):c.743C>T (p.P248L, p.(Pro248Leu)), MAN2B1(NM_000528.4):c.743C>T (p.P248L) - DHPS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4637G>A r.(=) p.(=) Unknown - likely benign g.12774536C>T - MAN2B1(NM_000528.4):c.744G>A (p.P248=) - DHPS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4640C>T r.(=) p.(=) Unknown - benign g.12774533G>A g.12663719G>A MAN2B1(NM_000528.4):c.747C>T (p.T249=) - DHPS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4641G>T r.(=) p.(=) Unknown - benign g.12774532C>A g.12663718C>A MAN2B1(NM_000528.4):c.748G>T (p.A250S) - MAN2B1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4642C>T r.(=) p.(=) Unknown - VUS g.12774531G>A - MAN2B1(NM_000528.3):c.749C>T (p.(Ala250Val)) - DHPS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4912G>T r.(=) p.(=) Unknown - likely benign g.12774261C>A - MAN2B1(NM_000528.4):c.779G>T (p.G260V) - DHPS_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4922G>A r.(=) p.(=) Unknown - likely benign g.12774251C>T - MAN2B1(NM_000528.3):c.789G>A (p.P263=) - DHPS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4956G>A r.(=) p.(=) Unknown - VUS g.12774217C>T - MAN2B1(NM_000528.4):c.823G>A (p.D275N) - DHPS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4965C>G r.(=) p.(=) Unknown - benign g.12774208G>C g.12663394G>C MAN2B1(NM_000528.4):c.832C>G (p.L278V) - MAN2B1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4965C>G r.(=) p.(=) Unknown - benign g.12774208G>C g.12663394G>C MAN2B1(NM_000528.4):c.832C>G (p.L278V) - MAN2B1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4977C>T r.(=) p.(=) Unknown - likely benign g.12774196G>A g.12663382G>A MAN2B1(NM_000528.3):c.844C>T (p.P282S, p.(Pro282Ser)), MAN2B1(NM_000528.4):c.844C>T (p.P282S) - MAN2B1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4977C>T r.(=) p.(=) Unknown - likely benign g.12774196G>A g.12663382G>A MAN2B1(NM_000528.3):c.844C>T (p.P282S, p.(Pro282Ser)), MAN2B1(NM_000528.4):c.844C>T (p.P282S) - MAN2B1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4977C>T r.(=) p.(=) Unknown - likely benign g.12774196G>A - MAN2B1(NM_000528.3):c.844C>T (p.P282S, p.(Pro282Ser)), MAN2B1(NM_000528.4):c.844C>T (p.P282S) - MAN2B1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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