Full data view for gene POU3F3

Information The variants shown are described using the NM_006236.1 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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.71C>A r.(?) p.(Ser24*) Unknown - likely pathogenic g.105472039C>A - - - POU3F3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.189C>A r.(?) p.(Tyr63*) Unknown - pathogenic (dominant) g.105472157C>A g.104855699C>A - - POU3F3_000008 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Snijders Blok 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.196_197delinsT r.(?) p.(Asp66Serfs*26) Unknown - pathogenic (dominant) g.105472164_105472165delinsT g.104855706_104855707delinsT - - POU3F3_000009 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8 PubMed: Snijders Blok 2019 - M - - - - - - - 1 Johan den Dunnen
?/. - c.246_267del r.(?) p.(Met82IlefsTer3) Unknown - VUS g.105472214_105472235del g.104855756_104855777del POU3F3(NM_006236.3):c.246_267delGGCCGCCAGCAACGGCGGCCAT (p.M82Ifs*3) - POU3F3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.246_267del r.(?) p.(Met82Ilefs*3) Unknown - pathogenic (dominant) g.105472214_105472235del g.104855756_104855777del - - POU3F3_000001 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat9 PubMed: Snijders Blok 2019 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.330_332del r.(?) p.(Ala115del) Unknown - likely benign g.105472298_105472300del - POU3F3(NM_006236.1):c.330_332delTGC (p.(Ala111del)) - POU3F3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.366_367del r.(?) p.(Trp122Cysfs*517) Unknown - pathogenic (dominant) g.105472334_105472335del g.104855876_104855877del - - POU3F3_000003 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat10 PubMed: Snijders Blok 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.436_437dup r.(?) p.(Pro147Alafs*4) Unknown - pathogenic (dominant) g.105472404_105472405dup g.104855946_104855947dup - - POU3F3_000010 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat11 PubMed: Snijders Blok 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.524del r.(?) p.(Pro175Argfs*56) Unknown - pathogenic (dominant) g.105472492del g.104856034del - - POU3F3_000011 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat12 PubMed: Snijders Blok 2019 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.609_611del r.(?) p.(Ala204del) Unknown - likely benign g.105472577_105472579del - POU3F3(NM_006236.3):c.609_611delCGC (p.A204del) - POU3F3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.623C>A r.(?) p.(Ser208Tyr) Unknown - VUS g.105472591C>A - POU3F3(NM_006236.2):c.623C>A (p.S208Y) - POU3F3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.655_656del r.(?) p.(Leu220Alafs*?) Unknown - likely pathogenic g.105472623_105472624del - POU3F3(NM_006236.1):c.653_654del (p.?) - POU3F3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.668C>A r.(?) p.(Ser223*) Unknown - pathogenic (dominant) g.105472636C>A g.104856178C>A - - POU3F3_000012 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat13 PubMed: Snijders Blok 2019 - M - - - - - - - 1 Johan den Dunnen
?/. - c.734_739dup r.(?) p.(Gly245_Gly246dup) Unknown - VUS g.105472702_105472707dup - POU3F3(NM_006236.1):c.734_739dupGCGGCG (p.(Gly245_Gly246dup)) - POU3F3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.737_739dup r.(?) p.(Gly246dup) Unknown - VUS g.105472705_105472707dup - POU3F3(NM_006236.3):c.737_739dupGCG (p.G246dup) - POU3F3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.751G>T r.(?) p.(Ala251Ser) Unknown - VUS g.105472719G>T - POU3F3(NM_006236.3):c.751G>T (p.(Ala251Ser)) - POU3F3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.774del r.(?) p.(Leu259Trpfs*110) Unknown - pathogenic (dominant) g.105472742del g.104856284del - - POU3F3_000013 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat14 PubMed: Snijders Blok 2019 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.829_831del r.(?) p.(His277del) Unknown - likely benign g.105472797_105472799del g.104856339_104856341del POU3F3(NM_006236.3):c.829_831delCAC (p.H277del) - POU3F3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.844C>G r.(?) p.(Pro282Ala) Unknown - VUS g.105472812C>G - POU3F3(NM_006236.1):c.844C>G (p.(Pro282Ala)) - POU3F3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.899_901dup r.(?) p.(Gly300dup) Unknown - likely benign g.105472867_105472869dup - POU3F3(NM_006236.3):c.899_901dup (p.(Gly300dup)) - POU3F3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.992_1006del r.(?) p.(Gln331_Lys335del) Unknown - pathogenic (dominant) g.105472960_105472974del g.104856502_104856516del - - POU3F3_000014 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat6 PubMed: Snijders Blok 2019 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.992_1006del r.(?) p.(Gln331_Lys335del) Unknown - likely pathogenic g.105472960_105472974del g.104856502_104856516del POU3F3(NM_006236.2):c.992_1006delAGCGGCGCATCAAGC (p.Q331_K335del) - POU3F3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1021G>C r.(?) p.(Ala341Pro) Unknown - VUS g.105472989G>C - - - POU3F3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1030G>C r.(?) p.(Gly344Arg) Unknown - likely pathogenic g.105472998G>C - - - POU3F3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1085G>T r.(?) p.(Arg362Leu) Unknown - pathogenic (dominant) g.105473053G>T g.104856595G>T - - POU3F3_000015 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Snijders Blok 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.1085G>T r.(?) p.(Arg362Leu) Unknown - pathogenic (dominant) g.105473053G>T g.104856595G>T - - POU3F3_000015 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Snijders Blok 2019 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.1113G>C r.(?) p.(Lys371Asn) Unknown - likely pathogenic g.105473081G>C - - - POU3F3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1147_1155del r.(?) p.(Trp383_Glu385del) Unknown - likely pathogenic g.105473115_105473123del - POU3F3(NM_006236.3):c.1147_1155delTGGCTGGAG (p.W383_E385del) - POU3F3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1197del r.(?) p.(Ile400Serfs*16) Unknown - pathogenic (dominant) g.105473165del g.104856707del - - POU3F3_000016 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat15 PubMed: Snijders Blok 2019 - M - - - - - - - 1 Johan den Dunnen
?/. - c.1219C>G r.(?) p.(Arg407Gly) Unknown - VUS g.105473187C>G g.104856729C>G - - POU3F3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1219C>G r.(?) p.(Arg407Gly) Unknown - pathogenic (dominant) g.105473187C>G g.104856729C>G - - POU3F3_000004 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Snijders Blok 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1220G>T r.(?) p.(Arg407Leu) Unknown - pathogenic (dominant) g.105473188G>T g.104856730G>T - - POU3F3_000017 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Snijders Blok 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1240G>T r.(?) p.(Glu414*) Unknown - pathogenic (dominant) g.105473208G>T g.104856750G>T - - POU3F3_000018 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat16 PubMed: Snijders Blok 2019 - M - - - - - - - 1 Johan den Dunnen
+?/. 1 c.1262T>C r.(?) p.(Leu421Pro) Unknown ACMG likely pathogenic (dominant) g.105473230T>C g.104856772T>C - - POU3F3_000036 ACMG: PP3_STR, PS2_SUP, PM2_SUP; confirmed de novo in trio exome - - - De novo - - - - - DNA SEQ-NG-I Blood - SNIBFIS 312272 - - F no ? (unknown) - - - - - 1 Andreas Laner
?/. - c.1284C>A r.(?) p.(Cys428Ter) Unknown - VUS g.105473252C>A g.104856794C>A - - POU3F3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1284C>A r.(?) p.(Cys428*) Unknown - pathogenic (dominant) g.105473252C>A g.104856794C>A - - POU3F3_000005 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat17 PubMed: Snijders Blok 2019 - M - - - - - - - 1 Johan den Dunnen
?/. - c.1291C>G r.(?) p.(Pro431Ala) Unknown - VUS g.105473259C>G - POU3F3(NM_006236.3):c.1291C>G (p.P431A) - POU3F3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1303_1305del r.(?) p.(Glu435del) Unknown - VUS g.105473271_105473273del g.104856813_104856815del POU3F3(NM_006236.3):c.1303_1305delGAG (p.E435del) - POU3F3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1352_1362del r.(?) p.(Arg451Leufs*185) Maternal (confirmed) - pathogenic (dominant) g.105473320_105473330del g.104856862_104856872del - - POU3F3_000019 - PubMed: Snijders Blok 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat19 PubMed: Snijders Blok 2019 daughter F - - - - - - - 1 Johan den Dunnen
+/. - c.1352_1362del r.(?) p.(Arg451Leufs*185) Unknown - pathogenic (dominant) g.105473320_105473330del g.104856862_104856872del - - POU3F3_000019 - PubMed: Snijders Blok 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat18 PubMed: Snijders Blok 2019 family, affected mother/daughter F - - - - - - - 2 Johan den Dunnen
+/. - c.1367A>G r.(?) p.(Asn456Ser) Unknown - pathogenic (dominant) g.105473335A>G g.104856877A>G - - POU3F3_000020 - PubMed: Snijders Blok 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: Snijders Blok 2019 - F - - - - - - - 1 Johan den Dunnen
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