Full data view for gene POLR3A

Information The variants shown are described using the NM_007055.3 transcript reference sequence.

397 entries on 4 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.-4482T>G r.(?) p.(=) Unknown - VUS g.79793647A>C - RPS24(NM_033022.4):c.-13A>C - POLR3A_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.-35C>G r.? p.? Parent #2 - likely pathogenic (recessive) g.79789200G>C g.78029442G>C - - POLR3A_000121 - PubMed: La Piana 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - HLD FamVPat5 PubMed: La Piana 2016 2-generation family, 2 affected, unaffected non-carrier parents - - - - - - - - 2 Johan den Dunnen
+?/. 1 c.-35C>G r.? p.? Parent #2 - likely pathogenic (recessive) g.79789200G>C g.78029442G>C - - POLR3A_000121 - PubMed: La Piana 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - HLD FamVPat6 PubMed: La Piana 2016 relative - - - - - - - - 1 Johan den Dunnen
+/. - c.3G>T r.(?) p.0? Paternal (confirmed) - pathogenic g.79789163C>A g.78029405C>A Met1? - POLR3A_000027 - PubMed: Paolacci 2018 - - Germline - - - - - DNA SEQ - - WDRTS Pat3;WRS009 PubMed: Morales 2009, PubMed: Paolacci 2018 - - - Colombia - - - - - 1 Johan den Dunnen
+?/. 1i c.44+5G>C r.44_45ins[GTAAC;44+6_44+10] p.Ile15Metfs*2 Maternal (confirmed) ACMG VUS g.79789117C>G g.78029359C>G - - POLR3A_000132 - - - - Germline yes - - - - RNA SEQ-NG-RNA whole blood - ID R146 - - M no China Chinese - - - - 1 Xiaomei Luo
-?/. - c.45-3C>T r.spl? p.? Unknown - likely benign g.79785990G>A - POLR3A(NM_007055.4):c.45-3C>T - POLR3A_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.103C>T r.(?) p.(Gln35Ter) Unknown - pathogenic g.79785929G>A g.78026171G>A POLR3A(NM_007055.4):c.103C>T (p.Q35*) - POLR3A_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.156A>G r.(?) p.(Leu52=) Unknown - likely benign g.79785876T>C g.78026118T>C POLR3A(NM_007055.3):c.156A>G (p.L52=) - POLR3A_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.169G>A r.(?) p.(Asp57Asn) Unknown - VUS g.79785863C>T g.78026105C>T POLR3A(NM_007055.3):c.169G>A (p.D57N) - POLR3A_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.169G>A r.(?) p.(Asp57Asn) Parent #1 - pathogenic (recessive) g.79785863C>T g.78026105C>T - - POLR3A_000067 - PubMed: Timmons 2006 - - Germline - - - - - DNA SEQ - - HLD 4H-46 PubMed: Timmons 2006 - - no - Europe-West - - - - 1 Johan den Dunnen
+/. 2 c.169G>A r.(?) p.(Asp57Asn) Parent #1 - pathogenic (recessive) g.79785863C>T g.78026105C>T - - POLR3A_000067 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-Fam40Pat46 PubMed: Wolf 2014 - - no - Europe-W - - - - 1 Johan den Dunnen
?/. - c.212C>G r.(?) p.(Thr71Ser) Unknown - VUS g.79785486G>C g.78025728G>C POLR3A(NM_007055.3):c.212C>G (p.T71S) - POLR3A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.229G>T r.(?) p.(Ala77Ser) Unknown - likely benign g.79785469C>A g.78025711C>A POLR3A(NM_007055.3):c.229G>T (p.A77S) - POLR3A_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.272C>T r.(?) p.(Pro91Leu) Parent #1 - pathogenic (recessive) g.79785426G>A g.78025668G>A - - POLR3A_000077 - PubMed: Daoud 2013 - - Germline - - - - - DNA SEQ - - HLD 4H-22 PubMed: Daoud 2013 - - no - Hispanic - - - - 1 Johan den Dunnen
+/. 3 c.272C>T r.(?) p.(Pro91Leu) Parent #1 - pathogenic (recessive) g.79785426G>A g.78025668G>A - - POLR3A_000077 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-Fam18Pat22 PubMed: Wolf 2014 - - no - Hispanic - - - - 1 Johan den Dunnen
?/. - c.295A>G r.(?) p.(Arg99Gly) Unknown - VUS g.79785403T>C - POLR3A(NM_007055.4):c.295A>G (p.R99G) - POLR3A_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.318+7A>C r.(=) p.(=) Unknown - likely benign g.79785373T>G - POLR3A(NM_007055.4):c.318+7A>C - POLR3A_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.322A>G r.(?) p.(Ile108Val) Unknown - VUS g.79784897T>C - POLR3A(NM_007055.3):c.322A>G (p.I108V) - POLR3A_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.346A>G r.(?) p.(Met116Val) Maternal (confirmed) - likely benign g.79784873T>C g.78025115T>C - - POLR3A_000076 - PubMed: Khalifa 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? patient PubMed: Khalifa 2015, comment PubMed: Thiffault 2016 - F - Egypt - - - - - 1 Johan den Dunnen
+/. 4 c.367_369del r.(?) p.(Lys123del) Parent #1 - pathogenic (recessive) g.79784855_79784857del g.78025097_78025099del 364_366delAAG - POLR3A_000076 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-32 PubMed: Wolf 2014 - - no - Hispanic - - - - 1 Johan den Dunnen
+/. 4 c.367_369del r.(?) p.(Lys123del) Parent #1 - pathogenic (recessive) g.79784855_79784857del g.78025097_78025099del 364_366delAAG - POLR3A_000076 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-Fam28Pat32 PubMed: Wolf 2014 - - no - Hispanic - - - - 1 Johan den Dunnen
+/. 4 c.418C>T r.(?) p.(Arg140*) Parent #1 - pathogenic (recessive) g.79784801G>A g.78025043G>A - - POLR3A_000043 - PubMed: Bernard 2011 - - Germline - - - - - DNA SEQ - - HLD 21855850-FamXIPat18 PubMed: Bernard 2011 - F - - white, Europe - - - - 1 Johan den Dunnen
-?/. - c.438C>T r.(?) p.(Ile146=) Unknown - likely benign g.79784781G>A g.78025023G>A POLR3A(NM_007055.3):c.438C>T (p.I146=) - POLR3A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.441dup r.(?) p.(Asp148*) Parent #1 - pathogenic (recessive) g.79784778dup g.78025020dup 441dupT - POLR3A_000075 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-66 PubMed: Wolf 2014 - - no - Mediterranean - - - - 1 Johan den Dunnen
+/. 4 c.441dup r.(?) p.(Asp148Ter) Parent #1 - pathogenic (recessive) g.79784778dup g.78025020dup 441dupT - POLR3A_000075 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-Fam58Pat66 PubMed: Wolf 2014 - - no - Mediterranean - - - - 1 Johan den Dunnen
-?/. - c.491-9C>T r.(=) p.(=) Unknown - likely benign g.79784470G>A - POLR3A(NM_007055.3):c.491-9C>T - POLR3A_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.496G>A r.(?) p.(Val166Ile) Both (homozygous) - pathogenic (recessive) g.79784456C>T g.78024698C>T - - POLR3A_000074 - PubMed: Daoud 2013 - - Germline - - - - - DNA SEQ - - HLD 4H-15 PubMed: Daoud 2013 family, 2 affected - - - - - - - - 2 Johan den Dunnen
+/. 5 c.496G>A r.(?) p.(Val166Ile) Both (homozygous) - pathogenic (recessive) g.79784456C>T g.78024698C>T - - POLR3A_000074 - PubMed: Daoud 2013 - - Germline - - - - - DNA SEQ - - HLD 4H-16 PubMed: Daoud 2013 - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.496G>A r.(?) p.(Val166Ile) Both (homozygous) - pathogenic (recessive) g.79784456C>T g.78024698C>T - - POLR3A_000074 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-Fam13Pat15 PubMed: Wolf 2014 family, 2 affected - - Canada France - - - - 2 Johan den Dunnen
+/. 5 c.496G>A r.(?) p.(Val166Ile) Both (homozygous) - pathogenic (recessive) g.79784456C>T g.78024698C>T - - POLR3A_000074 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-Fam13Pat16 PubMed: Wolf 2014 relative - - Canada France - - - - 115 Johan den Dunnen
+/. 5 c.552_553delinsT r.(?) p.(Lys184Asnfs*35) Parent #1 - pathogenic (recessive) g.79784399_79784400delinsA g.78024641_78024642delinsA 550_553delinsAAT - POLR3A_000073 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-36 PubMed: Wolf 2014 - - no - - - - - - 1 Johan den Dunnen
+/. 5 c.552_553delinsT r.(?) p.(Lys184AsnfsTer35) Parent #1 - pathogenic (recessive) g.79784399_79784400delinsA g.78024641_78024642delinsA c.550_553delinsAAT - POLR3A_000073 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-Fam32Pat36 PubMed: Wolf 2014 - - no - - - - - - 1 Johan den Dunnen
+/. - c.601del r.(?) p.(Ile201LeufsTer18) Parent #1 - pathogenic (recessive) g.79784351del g.78024593del 601delA - POLR3A_000120 - PubMed: Perrier 2020 - - Germline - - - - - DNA SEQ - - HLD Pat5 PubMed: Perrier 2020 - - - Canada - - - - - 1 Johan den Dunnen
+?/. 5i_8i c.(645+1_646-1)_(1185+1_1186-1)del r.? p.? Parent #2 - likely pathogenic (recessive) g.(79779024_79781303)_(79782143_79784306)del g.(78019266_78021545)_(78022385_78024548)del del ex6-8 - POLR3A_000102 variants in POLR3A are disease causing, either solely or in combination with the POLR3B variants PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat31 PubMed: Mirchi 2023 - M - Canada - - - - - 1 Johan den Dunnen
?/. - c.740C>T r.(?) p.(Pro247Leu) Unknown - VUS g.79782048G>A g.78022290G>A POLR3A(NM_007055.3):c.740C>T (p.(Pro247Leu)) - POLR3A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.740C>T r.(?) p.(Pro247Leu) Unknown - VUS g.79782048G>A g.78022290G>A POLR3A(NM_007055.3):c.740C>T (p.(Pro247Leu)) - POLR3A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.741G>A r.(?) p.(=) Unknown - likely benign g.79782047C>T - POLR3A(NM_007055.4):c.741G>A (p.(Pro247=)) - POLR3A_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.760C>T r.(?) p.(Arg254Ter) Unknown - pathogenic g.79782028G>A g.78022270G>A POLR3A(NM_007055.3):c.760C>T (p.R254*) - POLR3A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.760C>T r.(?) p.(Arg254Ter) Unknown - likely pathogenic g.79782028G>A g.78022270G>A POLR3A(NM_007055.3):c.760C>T (p.R254*) - POLR3A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.927C>T r.(?) p.(Asp309=) Unknown - likely benign g.79781739G>A g.78021981G>A POLR3A(NM_007055.3):c.927C>T (p.D309=) - POLR3A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.970G>A r.(?) p.(Glu324Lys) Unknown - VUS g.79781696C>T - POLR3A(NM_007055.3):c.970G>A (p.E324K) - POLR3A_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.973C>T r.(?) p.(Leu325Phe) Unknown - VUS g.79781693G>A - POLR3A(NM_007055.4):c.973C>T (p.L325F) - POLR3A_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7i c.1048+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.79781617C>T g.78021859C>T - - POLR3A_000119 - PubMed: La Piana 2016 - - Germline - - - - - DNA SEQ - - HLD FamIPat1 PubMed: La Piana 2016 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - c.1048+5G>T r.1048_1049ins[guagu;1048+6_1049-1] p.Arg353Profs*24 Maternal (inferred) - pathogenic g.79781613C>A g.78021855C>A - - POLR3A_000019 - PubMed: Paolacci 2018 - rs890755853 Germline - - - - - DNA, RNA RT-PCR, SEQ - - WDRTS WRS002 PubMed: Rautenstrauch 1977, PubMed: Paolacci 2018 consanguineous parents (fourth degree cousins) F yes Brazil - - - - - 1 Johan den Dunnen
+/. - c.1048+5G>T r.spl p.(Glu350Glufs*27) Parent #2 - pathogenic (recessive) g.79781613C>A g.78021855C>A - - POLR3A_000019 - PubMed: Harting 2020 - - Germline - - - - - DNA SEQ - - ? Pat1 PubMed: Harting 2020 - F no Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.1051C>T r.(?) p.(Arg351Ter) Parent #1 - likely pathogenic (recessive) g.79781438G>A g.78021680G>A - - POLR3A_000118 - PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat16 PubMed: Mirchi 2023 - M - Canada - - - - - 1 Johan den Dunnen
+/. - c.1051C>T r.(?) p.(Arg351Ter) Parent #1 - pathogenic (recessive) g.79781438G>A g.78021680G>A - - POLR3A_000118 - PubMed: Perrier 2020 - - Germline - - - - - DNA SEQ - - HLD Pat3 PubMed: Perrier 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.1051C>T r.(?) p.(Arg351Ter) Parent #1 - pathogenic (recessive) g.79781438G>A g.78021680G>A - - POLR3A_000118 - PubMed: Perrier 2020 - - Germline - - - - - DNA SEQ - - HLD Pat4 PubMed: Perrier 2020 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.1078A>G r.(?) p.(Arg360Gly) Unknown - likely pathogenic (dominant) g.79781411T>C g.78021653T>C - - POLR3A_000150 ACMG PP2, PP3(moderate), PM2, PS3 Journal: Ramos 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES neuropathy, peripheral FamAPatI1 Journal: Ramos 2025 2-generation family, affected parent /2 children - - Belgium - - - - - 3 Johan den Dunnen
+?/. - c.1078A>G r.(?) p.(Arg360Gly) Parent #1 - likely pathogenic (dominant) g.79781411T>C g.78021653T>C - - POLR3A_000150 ACMG PP2, PP3(moderate), PM2, PS4 Journal: Ramos 2025 - - Germline - - - - - DNA SEQ-NG - WES neuropathy, peripheral FamAPatII1 Journal: Ramos 2025 child - - Belgium - - - - - 1 Johan den Dunnen
+?/. - c.1078A>G r.(?) p.(Arg360Gly) Parent #1 - likely pathogenic (dominant) g.79781411T>C g.78021653T>C - - POLR3A_000150 ACMG PP2, PP3(moderate), PM2, PS5 Journal: Ramos 2025 - - Germline - - - - - DNA SEQ-NG - WES neuropathy, peripheral FamAPatII2 Journal: Ramos 2025 child - - Belgium - - - - - 1 Johan den Dunnen
-?/. - c.1113C>T r.(?) p.(Pro371=) Unknown - likely benign g.79781376G>A g.78021618G>A POLR3A(NM_007055.3):c.1113C>T (p.P371=) - POLR3A_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1114G>A r.(?) p.(Asp372Asn) Parent #2 - pathogenic (recessive) g.79781375C>T g.78021617C>T - - POLR3A_000042 - PubMed: Bernard 2011 - - Germline - - - - - DNA SEQ - - HLD 21855844-FamVIPat8 PubMed: Bernard 2011 - F - United States African American - - - - 1 Johan den Dunnen
+/. - c.1114G>A r.(?) p.(Asp372Asn) Parent #1 - pathogenic (recessive) g.79781375C>T g.78021617C>T - - POLR3A_000042 - PubMed: Yazidi 2019 - - Germline - - - - - DNA SEQ - - HLD Pat3 PubMed: Yazidi 2019 - F - Canada - - - - - 1 Johan den Dunnen
+/. 8 c.1114G>A r.(?) p.(Asp372Asn) Parent #1 - pathogenic (recessive) g.79781375C>T g.78021617C>T - - POLR3A_000042 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-Fam6Pat8 PubMed: Wolf 2014 - - no - African-American - - - - 1 Johan den Dunnen
+/. 8 c.1160C>G r.(?) p.(Ala387Gly) Parent #1 - pathogenic (recessive) g.79781329G>C g.78021571G>C - - POLR3A_000072 - PubMed: Daoud 2013 - - Germline - - - - - DNA SEQ - - HLD 4H-20 PubMed: Daoud 2013 - - no - white - - - - 1 Johan den Dunnen
+/. 8 c.1160C>G r.(?) p.(Ala387Gly) Parent #1 - pathogenic (recessive) g.79781329G>C g.78021571G>C - - POLR3A_000072 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-Fam16Pat20 PubMed: Wolf 2014 - - no - white - - - - 1 Johan den Dunnen
?/. - c.1163A>G r.(?) p.(Lys388Arg) Unknown - VUS g.79781326T>C - POLR3A(NM_007055.4):c.1163A>G (p.(Lys388Arg)) - POLR3A_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1186G>T r.(?) p.(Val396Leu) Parent #1 - pathogenic (recessive) g.79779023C>A g.78019265C>A - - POLR3A_000071 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-31 PubMed: Wolf 2014 - - no - white - - - - 1 Johan den Dunnen
?/. - c.1186G>T r.(?) p.(Val396Leu) Unknown - VUS g.79779023C>A - POLR3A(NM_007055.4):c.1186G>T (p.V396L) - POLR3A_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1186G>T r.(?) p.(Val396Leu) Parent #1 - likely pathogenic (recessive) g.79779023C>A g.78019265C>A - - POLR3A_000071 - PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat14 PubMed: Mirchi 2023 - M - Canada - - - - - 1 Johan den Dunnen
+/. - c.1186G>T r.(?) p.(Val396Leu) Parent #1 - pathogenic (recessive) g.79779023C>A g.78019265C>A - - POLR3A_000071 - PubMed: Yazidi 2019 - - Germline - - - - - DNA SEQ - - HLD Pat6 PubMed: Yazidi 2019 - M - Canada - - - - - 1 Johan den Dunnen
+/. 9 c.1186G>T r.(?) p.(Val396Leu) Parent #1 - pathogenic (recessive) g.79779023C>A g.78019265C>A - - POLR3A_000071 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-Fam27Pat31 PubMed: Wolf 2014 - - no - white - - - - 1 Johan den Dunnen
+/. 9i c.1289+3A>C r.spl p.? Parent #2 - pathogenic (recessive) g.79778917T>G g.78019159T>G - - POLR3A_000117 - PubMed: La Piana 2016 - - Germline - - - - - DNA SEQ - - HLD FamIPat1 PubMed: La Piana 2016 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.1290-5T>C r.spl? p.? Unknown - VUS g.79777479A>G - POLR3A(NM_007055.4):c.1290-5T>C - POLR3A_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1301dup r.(?) p.(Tyr434*) Parent #1 - pathogenic (recessive) g.79777463dup g.78017705dup 1302insA - POLR3A_000070 - PubMed: Daoud 2013 - - Germline - - - - - DNA SEQ - - HLD 4H-21 PubMed: Daoud 2013 - - no Malaysia white - - - - 1 Johan den Dunnen
+/. 10 c.1301dup r.(?) p.(Tyr434Ter) Parent #1 - pathogenic (recessive) g.79777463dup g.78017705dup 1302insA - POLR3A_000070 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-Fam17Pat21 PubMed: Wolf 2014 - - no - Malaysia;white - - - - 1 Johan den Dunnen
-?/. - c.1302C>T r.(?) p.(Tyr434=) Unknown - likely benign g.79777462G>A g.78017704G>A POLR3A(NM_007055.3):c.1302C>T (p.Y434=) - POLR3A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1329G>C r.(?) p.(Glu443Asp) Unknown - likely benign g.79777435C>G g.78017677C>G POLR3A(NM_007055.3):c.1329G>C (p.E443D) - POLR3A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1345A>G r.(?) p.(Ile449Val) Unknown - likely benign g.79777419T>C g.78017661T>C POLR3A(NM_007055.3):c.1345A>G (p.I449V) - POLR3A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1369G>A r.(?) p.(Gly457Arg) Parent #1 - likely pathogenic (recessive) g.79777395C>T g.78017637C>T - - POLR3A_000116 - PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat12 PubMed: Mirchi 2023 - F - Canada - - - - - 1 Johan den Dunnen
+/. - c.1369G>A r.(?) p.(Gly457Arg) Parent #1 - pathogenic (recessive) g.79777395C>T g.78017637C>T - - POLR3A_000116 - PubMed: Yazidi 2019 - - Germline - - - - - DNA SEQ - - HLD Pat11 PubMed: Yazidi 2019 - F - Canada - - - - - 1 Johan den Dunnen
-?/. - c.1380G>A r.(?) p.(Val460=) Unknown - likely benign g.79777384C>T g.78017626C>T POLR3A(NM_007055.3):c.1380G>A (p.V460=) - POLR3A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1433C>G r.(?) p.(Ala478Gly) Parent #1 - pathogenic (recessive) g.79773547G>C g.78013789G>C - - POLR3A_000069 - PubMed: Wolf 2005 - - Germline - - - - - DNA SEQ - - HLD 4H-48 PubMed: Wolf 2005 - - no - Europe-Central - - - - 1 Johan den Dunnen
+/. 11 c.1433C>G r.(?) p.(Ala478Gly) Parent #1 - pathogenic (recessive) g.79773547G>C g.78013789G>C - - POLR3A_000069 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-Fam42Pat48 PubMed: Wolf 2014 - - no - Europe-C - - - - 1 Johan den Dunnen
?/. - c.1450C>T r.(?) p.(Arg484Trp) Unknown - VUS g.79773530G>A - POLR3A(NM_007055.3):c.1450C>T (p.R484W) - POLR3A_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1475T>C r.(?) p.(Val492Ala) Unknown - likely benign g.79773505A>G - POLR3A(NM_007055.3):c.1475T>C (p.V492A) - POLR3A_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11i_15i c.(1572+1_1573-1)_(2074+1_2075-1)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(79764647_79767459)_(79770299_79773407)del - del ex12-15 - POLR3A_000031 - PubMed: Paolacci 2018 - - Germline - - - - - DNA SEQ - - WDRTS FamWRS012 PubMed: Paolacci 2017, PubMed: Paolacci 2018 - - - Italy - - - - - 1 Johan den Dunnen
?/. - c.1624A>G r.(?) p.(Ile542Val) Unknown - VUS g.79770247T>C g.78010489T>C POLR3A(NM_007055.3):c.1624A>G (p.I542V) - POLR3A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1658C>T r.(?) p.(Thr553Ile) Parent #1 - pathogenic (recessive) g.79769734G>A g.78009976G>A - - POLR3A_000068 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-90 PubMed: Wolf 2014 - - no - Europe-Central - - - - 1 Johan den Dunnen
+/. 13 c.1658C>T r.(?) p.(Thr553Ile) Parent #1 - pathogenic (recessive) g.79769734G>A g.78009976G>A - - POLR3A_000068 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-Fam79Pat90 PubMed: Wolf 2014 - - no - Europe-C - - - - 1 Johan den Dunnen
+/. 13 c.1674C>G r.(?) p.(Phe558Leu) Parent #1 - pathogenic (recessive) g.79769718G>C g.78009960G>C - - POLR3A_000041 - PubMed: Bernard 2011 - - Germline - - - - - DNA SEQ - - HLD 21855841-FamIPat1 PubMed: Bernard 2011 - M - Canada French Canadian - - - - 1 Johan den Dunnen
+/. 13 c.1674C>G r.(?) p.(Phe558Leu) Parent #1 - pathogenic (recessive) g.79769718G>C g.78009960G>C - - POLR3A_000041 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-43 PubMed: Wolf 2014 - - no - - - - - - 1 Johan den Dunnen
+?/. - c.1674C>G r.(?) p.(Phe558Leu) Parent #1 - likely pathogenic (recessive) g.79769718G>C g.78009960G>C - - POLR3A_000041 - PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat1 PubMed: Mirchi 2023 - M - Canada - - - - - 1 Johan den Dunnen
+?/. - c.1674C>G r.(?) p.(Phe558Leu) Parent #1 - likely pathogenic (recessive) g.79769718G>C g.78009960G>C - - POLR3A_000041 - PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat6 PubMed: Mirchi 2023 - M - Canada - - - - - 1 Johan den Dunnen
+/. - c.1674C>G r.(?) p.(Phe558Leu) Parent #1 - pathogenic (recessive) g.79769718G>C g.78009960G>C - - POLR3A_000041 - PubMed: Yazidi 2019 - - Germline - - - - - DNA SEQ - - HLD Pat16 PubMed: Yazidi 2019 - F - Canada - - - - - 1 Johan den Dunnen
+/. - c.1674C>G r.(?) p.(Phe558Leu) Parent #1 - pathogenic (recessive) g.79769718G>C g.78009960G>C - - POLR3A_000041 - PubMed: Yazidi 2019 - - Germline - - - - - DNA SEQ - - HLD Pat19 PubMed: Yazidi 2019 - M - Canada - - - - - 1 Johan den Dunnen
+/. 13 c.1674C>G r.(?) p.(Phe558Leu) Parent #1 - pathogenic (recessive) g.79769718G>C g.78009960G>C - - POLR3A_000041 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-Fam1Pat1 PubMed: Wolf 2014 - - no Canada France - - - - 1 Johan den Dunnen
+/. 13 c.1674C>G r.(?) p.(Phe558Leu) Parent #1 - pathogenic (recessive) g.79769718G>C g.78009960G>C - - POLR3A_000041 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-Fam38Pat43 PubMed: Wolf 2014 - - no Canada France - - - - 1 Johan den Dunnen
+/. - c.1681C>T r.1681c>u p.Arg561Ter Parent #1 - pathogenic (recessive) g.79769711G>A g.78009953G>A - - POLR3A_000115 - PubMed: Perrier 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HLD Pat2 PubMed: Perrier 2020 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.1724A>T r.(?) p.(Lys575Met) Maternal (confirmed) - likely pathogenic (recessive) g.79769668T>A g.78009910T>A - - POLR3A_000077 - PubMed: Khalifa 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? patient PubMed: Khalifa 2015, comment PubMed: Thiffault 2016 - F - Egypt - - - - - 1 Johan den Dunnen
-?/. - c.1724A>T r.(?) p.(Lys575Met) Unknown - likely benign g.79769668T>A - POLR3A(NM_007055.3):c.1724A>T (p.(Lys575Met)) - POLR3A_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1740dup r.(?) p.(Val581Serfs*28) Parent #1 - pathogenic (recessive) g.79769654dup g.78009896dup 1741insA - POLR3A_000067 - PubMed: Daoud 2013 - - Germline - - - - - DNA SEQ - - HLD 4H-19 PubMed: Daoud 2013 - - no - white - - - - 1 Johan den Dunnen
+/. 13 c.1740dup r.(?) p.(Val581SerfsTer28) Parent #1 - pathogenic (recessive) g.79769654dup g.78009896dup 1741insA - POLR3A_000067 - PubMed: Wolf 2014 - - Germline - - - - - DNA SEQ - - HLD 4H-Fam15Pat19 PubMed: Wolf 2014 - - no - white - - - - 1 Johan den Dunnen
-/. - c.1745G>A r.(?) p.(Arg582His) Unknown - benign g.79769647C>T g.78009889C>T POLR3A(NM_007055.3):c.1745G>A (p.R582H) - POLR3A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1745G>A r.(?) p.(Arg582His) Paternal (confirmed) - likely pathogenic (recessive) g.79769647C>T g.78009889C>T - - POLR3A_000011 - PubMed: Khalifa 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? patient PubMed: Khalifa 2015, comment PubMed: Thiffault 2016 - F - Egypt - - - - - 1 Johan den Dunnen
-?/. - c.1745G>T r.(?) p.(Arg582Leu) Unknown - likely benign g.79769647C>A - POLR3A(NM_007055.3):c.1745G>T (p.(Arg582Leu)), POLR3A(NM_007055.4):c.1745G>T (p.R582L) - POLR3A_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1745G>T r.(?) p.(Arg582Leu) Unknown - likely benign g.79769647C>A - POLR3A(NM_007055.3):c.1745G>T (p.(Arg582Leu)), POLR3A(NM_007055.4):c.1745G>T (p.R582L) - POLR3A_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1771-7C>G r.(1771_1909del) p.(Pro591Metfs*9) Both (homozygous) - likely pathogenic g.79769440G>C g.78009682G>C - - POLR3A_000010 - - - - Germline - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+?/. - c.1771-7C>G r.spl p.[(Glu548_Tyr637del,Pro591Metfs*9)] Parent #1 - likely pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat11 PubMed: Mirchi 2023 - M - Canada - - - - - 1 Johan den Dunnen
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