Full data view for gene POU3F2

Information The variants shown are described using the NM_005604.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.41C>T r.(?) p.(Ser14Phe) Unknown - pathogenic (dominant) g.99282790C>T g.98834914C>T - - POU3F2_000001 - PubMed: Schonauer 2023, Journal: Schonauer 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat3 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.135C>A r.(?) p.(Tyr45Ter) Maternal (confirmed) - pathogenic (dominant) g.99282884C>A g.98835008C>A - - POU3F2_000002 - PubMed: Schonauer 2023, Journal: Schonauer 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam1Pat1 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, affected mother/son, unaffected non-carrier parents M - Germany - - - - - 2 Johan den Dunnen
+/. - c.135C>A r.(?) p.(Tyr45Ter) Unknown - pathogenic (dominant) g.99282884C>A g.98835008C>A - - POU3F2_000002 - PubMed: Schonauer 2023, Journal: Schonauer 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Fam1Pat2 PubMed: Schonauer 2023, Journal: Schonauer 2023 mother F - Germany - - - - - 1 Johan den Dunnen
-?/. - c.213_215del r.(?) p.(Gly88del) Unknown - likely benign g.99282962_99282964del - POU3F2(NM_005604.4):c.213_215delCGG (p.G88del) - POU3F2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.664C>T r.(?) p.(Pro222Ser) Paternal (confirmed) - pathogenic (dominant) g.99283413C>T g.98835537C>T - - POU3F2_000003 - PubMed: Schonauer 2023, Journal: Schonauer 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam5Pat1 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, affected father/son, unaffected non-carrier parents M - - - - - - - 2 Johan den Dunnen
+/. - c.664C>T r.(?) p.(Pro222Ser) Unknown - pathogenic (dominant) g.99283413C>T g.98835537C>T - - POU3F2_000003 - PubMed: Schonauer 2023, Journal: Schonauer 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Fam5Pat2 PubMed: Schonauer 2023, Journal: Schonauer 2023 father M - - - - - - - 1 Johan den Dunnen
?/. - c.778T>A r.(?) p.(Ser260Thr) Unknown - VUS g.99283527T>A g.98835651T>A POU3F2(NM_005604.4):c.778T>A (p.S260T) - POU3F2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.812A>T r.(?) p.(Glu271Val) Unknown - pathogenic (dominant) g.99283561A>T g.98835685A>T - - POU3F2_000004 - PubMed: Schonauer 2023, Journal: Schonauer 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat4 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.914A>G r.(?) p.(Gln305Arg) Unknown - pathogenic (dominant) g.99283663A>G g.98835787A>G - - POU3F2_000005 - PubMed: Schonauer 2023, Journal: Schonauer 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.929G>C r.(?) p.(Arg310Thr) Unknown - pathogenic (dominant) g.99283678G>C g.98835802G>C - - POU3F2_000006 - PubMed: Schonauer 2023, Journal: Schonauer 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat6 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1064G>T r.(?) p.(Arg355Leu) Unknown - pathogenic (dominant) g.99283813G>T g.98835937G>T - - POU3F2_000007 - PubMed: Schonauer 2023, Journal: Schonauer 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat8 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1212C>A r.(?) p.(Asn404Lys) Unknown - pathogenic (dominant) g.99283961C>A g.98836085C>A - - POU3F2_000008 - PubMed: Schonauer 2023, Journal: Schonauer 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat10 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1249_1252del r.(?) p.(Gly417LeufsTer71) Unknown - pathogenic (dominant) g.99283998_99284001del g.98836122_98836125del - - POU3F2_000009 - PubMed: Schonauer 2023, Journal: Schonauer 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat7 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.1291G>A r.(?) p.(Asp431Asn) Unknown - VUS g.99284040G>A - POU3F2(NM_005604.4):c.1291G>A (p.D431N) - POU3F2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1325T>C r.(?) p.(Val442Ala) Unknown - pathogenic (dominant) g.99284074T>C g.98836198T>C - - POU3F2_000010 - PubMed: Schonauer 2023, Journal: Schonauer 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat9 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
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