Full data view for gene POU3F4

Information The variants shown are described using the NM_000307.4 transcript reference sequence.

154 entries on 2 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     
+/. _1 c.-51136791_-443193inv r.? p.? Maternal (confirmed) - pathogenic (recessive) g.31626542_82320140inv g.31608425_82302023inv - - DMD_068719 inversion from DMD intron to 443 kb upstream of POU3F4 gene PubMed: Chandrasekhar 2023 - - Germline yes - - - - DNA microscope, SEQ, SEQ-NG - WGS MD FamPatIII2 PubMed: Chandrasekhar 2023 3-generation family, 2 affected maternal half-brothers, unaffected carrier mother M - United States - - - - - 2 Johan den Dunnen
+/. _1 c.(?_-1911798)_(-165501_?)del r.? p.? Unknown - pathogenic (recessive) g.(?_80851535)_(82597832_?)del g.(?_80851535)_(82597832_?)del - - POU3F4_000103 - PubMed: Choi 2013 - - Germline - - - - - DNA arrayCGH - - HL SNUH17-42 PubMed: Choi 2013 - M - Korea - - - - - 1 Johan den Dunnen
+?/. _1 c.-1623019_-752234delinsAGTGAAA r.? p.? Maternal (confirmed) - likely pathogenic (recessive) g.81140314_82011099delinsAGTGAAA g.81885306_82756091delinsAGTGAAA - - POU3F4_000105 - PubMed: Jiang 2021 - - Germline - - - - - DNA SEQ, SEQ-ON - - HL J0012 PubMed: Jiang 2021 2-generation family, 1 affected, unaffected carrier mother M - China - - - - - 1 Johan den Dunnen
+/. _1 c.(-4550374_-1109146)_(-287187_-6102)del r.? p.? Unknown - pathogenic g.(78212959_81654187)_(82476146_82757231)del g.(78957951_82399179)_(83221138_83502223)del - - POU3F4_000084 deletion from DXS1225/DXS169 to DXS26/DXS995 PubMed: Arellano 2000 - - Germline yes - - - - DNA PCR - - HL family PubMed: Arellano 2000 3-generation family, 3 affected - - Spain - - - - - 3 Johan den Dunnen
+/. - c.-922590_-127125delinsCATCATCTCAGCCCCATC r.(=|red) p.? Maternal (confirmed) - pathogenic (recessive) g.81840743_82636208delinsCATCATCTCAGCCCCATC g.82585735_83381200delinsCATCATCTCAGCCCCATC - - POU3F4_000102 795.5 kb deletion 140 kb upstream POU3F4 gene Journal: Yang 2025 - - Germline yes - - - - DNA SEQ, SEQ-NG - trio WES HL family Journal: Yang 2025 5-generation family, 5 affected (5M), unaffected carrier females M - China - - - - - 5 Johan den Dunnen
+?/. _1_ c.-617262_*7424074inv r.? p.? Unknown - likely pathogenic (recessive) g.82146071_90188492inv g.82891063_90933484inv chrX:82146071–90188492inv - POU3F4_000104 - PubMed: Jiang 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-ON - - HL J0011 PubMed: Jiang 2021 2-generation family, 1 affected M - China - - - - - 1 Johan den Dunnen
+/. _1_ c.-64_*356{0} r.0 p.0 Parent #1 - pathogenic g.(?_82763269)_(82764774_?)del g.(?_83508261)_(83509766_?)del - - POU3F4_000000 >1.5Mb deletion starting >1250Kb upstream PubMed: de Kok 1996 - - Unknown - - - - - DNA PCR, Southern - - DFNX - - - - - - - - - - - 1 LOVD
+/. _1_ c.-64_*356{0} r.0 p.0 Parent #1 - pathogenic g.(?_82763269)_(82764774_?)del g.(?_83508261)_(83509766_?)del - - POU3F4_000000 >600Kb deletion starting 350Kb upstream PubMed: de Kok 1996 - - Unknown - - - - - DNA PCR, Southern - - DFNX - - - - - - - - - - - 1 LOVD
+/. _1_ c.-64_*356{0} r.0 p.0 Parent #1 - pathogenic g.(?_82763269)_(82764774_?)del g.(?_83508261)_(83509766_?)del - - POU3F4_000000 1Mb deletion PubMed: de Kok 1996 - - Unknown - - - - - DNA PCR, Southern - - DFNX - - - - - - - - - - - 1 LOVD
+/. _1_ c.-64_*356{0} r.0? p.0? Parent #1 - pathogenic (recessive) g.(?_82763269)_(82764774_?)del g.(?_83508261)_(83509766_?)del - - POU3F4_000000 - PubMed: de Kok 1995 - - Unknown - - - - - DNA PCR, Southern - - DFNX PatDP20 PubMed: de Kok 1995 - - - - - - - - - 1 LOVD
+/. _1_ c.-64_*356{0} r.0? p.0? Parent #1 - pathogenic (recessive) g.(?_82763269)_(82764774_?)del g.(?_83508261)_(83509766_?)del - - POU3F4_000000 - PubMed: de Kok 1995 - - Germline/De novo (untested) - - - - - DNA PCR, Southern - - DFNX PatXL45 PubMed: de Kok 1995 - M - - - - - - - 1 LOVD
+/. _1 c.= r.= p.= Parent #1 - pathogenic g.? - - - POU3F4_000000 >1200Kb deletion 50Kb upstream PubMed: de Kok 1996 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - - - - - - - 1 LOVD
+/. _1 c.= r.= p.= Parent #1 - pathogenic g.? - - - POU3F4_000000 >500Kb deletion 700Kb upstream PubMed: de Kok 1996 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - - - - - - - 1 LOVD
+/. _1_ c.= r.= p.= Parent #1 - pathogenic g.? -   - POU3F4_000000 150Kb duplication 170Kb upstream of POU3F4 and paracentric inversion PubMed: de Kok 1995 - - Unknown - - - - - DNA SEQ - - DFNX - - 4-generation family, 5 affected males M - - - - - - - 5 LOVD
+/. _1_ c.= r.= p.= Parent #1 - pathogenic g.? -   - POU3F4_000000 150Kb duplication 170Kb upstream of POU3F4 and paracentric inversion PubMed: de Kok 1995 - - Unknown - - - - - DNA SEQ - - ? - - 4-generation family, 4 unaffected carrier females M - - - - - - - 4 LOVD
+/. _1 c.= r.= p.= Parent #1 - pathogenic g.? - - - POU3F4_000000 200Kb deletion 850Kb upstream PubMed: de Kok 1996 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - - - - - - - 1 LOVD
+/. _1 c.= r.= p.= Parent #1 - pathogenic g.? - - - POU3F4_000000 200Kb deletion 900Kb upstream PubMed: de Kok 1996 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - - - - - - - 1 LOVD
+/. _1 c.= r.= p.= Parent #1 - pathogenic g.? - - - POU3F4_000000 250Kb deletion 900Kb upstream PubMed: de Kok 1996 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - - - - - - - 1 LOVD
+/. _1 c.= r.= p.= Parent #1 - pathogenic g.? - - - POU3F4_000000 30Kb 930 Kb upstream PubMed: de Kok 1996 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - - - - - - - 1 LOVD
+/. _1 c.= r.= p.= Parent #1 - pathogenic g.? - - - POU3F4_000000 700Kb deletion 350Kb upstream PubMed: de Kok 1996 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - France - - - - - 1 LOVD
+/. _1 c.= r.= p.= Parent #1 - pathogenic g.? - - - POU3F4_000000 deletions (2.6Kb, 6.5Kb, 7Kb, 4.4Kb) 950-800Kb upstream PubMed: de Kok 1996 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - - - - - - - 1 LOVD
+/. _1 c.= r.= p.= Parent #1 - pathogenic g.? - - - POU3F4_000000 inversion and 850Kb deletion 50Kb upstream PubMed: de Kok 1996 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - - - - - - - 1 LOVD
?/. - c.103C>A r.(?) p.(Gln35Lys) Unknown - VUS g.82763435C>A g.83508427C>A POU3F4(NM_000307.4):c.103C>A (p.Q35K) - POU3F4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.191G>A r.(?) p.(Gly64Glu) Unknown - VUS g.82763523G>A g.83508515G>A POU3F4(NM_000307.4):c.191G>A (p.G64E) - POU3F4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.200G>A r.(?) p.(Trp67*) Parent #1 - pathogenic g.82763532G>A g.83508524G>A - - POU3F4_000027 - PubMed: Cremers 2000 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - - - - - - - 1 LOVD
+/+ 1 c.201G>A r.(?) p.(Trp67*) Parent #1 - pathogenic g.82763533G>A g.83508525G>A - - POU3F4_000054 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - HL - - - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.206C>T r.(?) p.(Ser69Phe) Unknown - VUS g.82763538C>T g.83508530C>T POU3F4(NM_000307.4):c.206C>T (p.S69F) - POU3F4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.227del r.(?) p.(Leu76Argfs*6) Both (homozygous) - likely pathogenic g.82763559del - 227delT - POU3F4_000077 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 Gunnar Schmidt
+?/. - c.232C>T r.(?) p.(Gln78Ter) Maternal (confirmed) ACMG likely pathogenic (recessive) g.82763564C>T g.83508556C>T - - POU3F4_000085 ACMG PVS1_Strong, PM2 PubMed: Jiang 2021 - - Germline - - - - - DNA SEQ - - HL M32 PubMed: Jiang 2021 - M - China - - - - - 1 Johan den Dunnen
+/. 1 c.235C>T r.(?) p.(Gln79*) Maternal (confirmed) - pathogenic g.82763567C>T g.83508559C>T Q79X - POU3F4_000010 0/260 hearing controls PubMed: Parzefall 2013, Journal: Parzefall 2013 - - Germline yes 1/218 unrelated cases - - - DNA SEQ-NG-I blood - DFNX2 - PubMed: Parzefall 2013, Journal: Parzefall 2013 Congenital, profound HL; Mondini M no Israel Jewish-Ashkenazi - - - - 1 Zippi Brownstein
+/. 1 c.235C>T r.(?) p.(Gln79*) Unknown - pathogenic g.82763567C>T g.83508559C>T - - POU3F4_000010 - - - - De novo - - - - - DNA SEQ - - DFNX2 - - - M no Israel Jewish-Ashkenazi - - - - 1 Thomas Parzefall
+/+ 1 c.235C>T r.(?) p.(Gln79*) Parent #1 - pathogenic g.82763567C>T g.83508559C>T - - POU3F4_000010 - MORL Deafness Variation Database, PubMed: Parzefall 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Parzefall 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.293C>A r.(?) p.(Ser98*) Parent #1 - pathogenic g.82763625C>A g.83508617C>A - - POU3F4_000037 - PubMed: Marlin 2009 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - - - - - - - 1 LOVD
+/. 1 c.341G>A r.(?) p.(Trp114*) Parent #1 - pathogenic g.82763673G>A g.83508665G>A - - POU3F4_000042 - PubMed: Waryah 2011 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - - - - - - - 1 LOVD
+/+ 1 c.341G>A r.(?) p.(Trp114*) Parent #1 - pathogenic g.82763673G>A g.83508665G>A - - POU3F4_000042 - MORL Deafness Variation Database, PubMed: Smith 1993, PubMed: Duzkale 2013, PubMed: Alford 2014, PubMed: Shearer 1993, PubMed: Waryah 2011 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Smith 1993, PubMed: Duzkale 2013, PubMed: Alford 2014, PubMed: Shearer 1993, PubMed: Waryah 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.346del r.(?) p.(Ala116Profs*26) Maternal (confirmed) - pathogenic (recessive) g.82763678del g.83508670del 346delG - POU3F4_000034 - PubMed: Lee 2009 - - Germline - - - - - DNA SEQ - - DFNX FamSV08-17 PubMed: Lee 2009 4-generation family, 5 affected males M - Korea - - - - - 5 LOVD
+?/. - c.346dup r.(?) p.(Ala116GlyfsTer77) Unknown ACMG likely pathogenic (recessive) g.82763678dup g.83508670dup - - POU3F4_000086 ACMG PVS1_Strong, PM2 PubMed: Jiang 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - HL 13276 PubMed: Jiang 2021 - M - China - - - - - 1 Johan den Dunnen
+/. - c.346dup r,(?) p.(Ala116GlyfsTer77) Parent #1 - pathogenic g.82763678dup g.83508670dup 346dupG - POU3F4_000086 combination of alleles not reported PubMed: Wu 2019 - - Germline - 2/1291 cases hearing loss - - - DNA SEQ, SEQ-NG - 213-gene panel HL - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - 2 Johan den Dunnen
+?/. - c.346_350dup r.(?) p.(Ser117ArgfsTer27) Maternal (confirmed) ACMG likely pathogenic (recessive) g.82763678_82763682dup g.83508670_83508674dup - - POU3F4_000087 ACMG PVS1_Strong, PM2 PubMed: Jiang 2021 - - Germline - - - - - DNA SEQ - - HL 4354 PubMed: Jiang 2021 - M - China - - - - - 1 Johan den Dunnen
-?/. - c.381C>T r.(?) p.(Ser127=) Unknown - likely benign g.82763713C>T - POU3F4(NM_000307.4):c.381C>T (p.S127=) - POU3F4_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.383del r.(?) p.(Gly128Alafs*14) Parent #1 - pathogenic g.82763715del g.83508707del - - POU3F4_000032 - PubMed: Lee 2009 - - Germline - - - - - DNA SEQ - - DFNX - - 3-generation family, 2 affected males M - Korea - - - - - 2 LOVD
+/. 1 c.383del r.(?) p.(Gly128Alafs*14) Parent #1 - pathogenic g.82763715del g.83508707del - - POU3F4_000032 - PubMed: Lee 2009 - - Germline - - - - - DNA SEQ - - ? - - 3-generation family, unaffected carrier female M - Korea - - - - - 1 LOVD
+/+ 1 c.383del r.(?) p.(Gly128Alafs*14) Parent #1 - pathogenic g.82763715del g.83508707del - - POU3F4_000056 - MORL Deafness Variation Database, PubMed: Lee 2009 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Lee 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.389C>A r.(?) p.(Pro130His) Unknown - VUS g.82763721C>A - POU3F4(NM_000307.4):c.389C>A (p.P130H) - POU3F4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.401_404dup r.(?) p.(Gln136LeufsTer58) Maternal (confirmed) ACMG likely pathogenic (recessive) g.82763733_82763736dup g.83508725_83508728dup - - POU3F4_000088 ACMG PVS1_Strong, PM2 PubMed: Jiang 2021 - - Germline - - - - - DNA SEQ - - HL J0006 PubMed: Jiang 2021 - M - China - - - - - 1 Johan den Dunnen
+/. 1 c.406C>T r.(?) p.(Gln136*) Parent #1 - pathogenic g.82763738C>T g.83508730C>T - - POU3F4_000043 - PubMed: Waryah 2011 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - - - - - - - 1 LOVD
+?/. - c.421_422delinsTA r.(?) p.(Val141Ter) Maternal (confirmed) ACMG likely pathogenic (recessive) g.82763753_82763754delinsTA g.83508745_83508746delinsTA - - POU3F4_000089 ACMG PVS1_Strong, PM2 PubMed: Jiang 2021 - - Germline - - - - - DNA SEQ - - HL 5517 PubMed: Jiang 2021 - M - China - - - - - 1 Johan den Dunnen
?/. - c.425G>C r.(?) p.(Ser142Thr) Unknown - VUS g.82763757G>C g.83508749G>C POU3F4(NM_000307.3):c.425G>C (p.(Ser142Thr)) - POU3F4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.441del r.(?) p.(His147GlnfsTer94) Unknown ACMG likely pathogenic (recessive) g.82763773del g.83508765del - - POU3F4_000090 ACMG PVS1_Strong, PM2 PubMed: Jiang 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - HL 12701 PubMed: Jiang 2021 - M - China - - - - - 1 Johan den Dunnen
-?/. - c.447A>C r.(?) p.(Gly149=) Unknown - likely benign g.82763779A>C - POU3F4(NM_000307.4):c.447A>C (p.G149=) - POU3F4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468C>T r.(?) p.(Ala156=) Unknown - likely benign g.82763800C>T - POU3F4(NM_000307.4):c.468C>T (p.A156=) - POU3F4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.471C>T r.(?) p.= Parent #1 - VUS g.82763803C>T g.83508795C>T A157A - POU3F4_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - - - - - DNA SEQ - - MRX;IDX 19377261-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.478C>T r.(?) p.(Gln160Ter) Both (homozygous) ACMG pathogenic (recessive) g.82763810C>T g.83508802C>T - - POU3F4_000095 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF908 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
?/? 1 c.483C>A r.(?) p.(Ser161Arg) Parent #1 - VUS g.82763815C>A g.83508807C>A - - POU3F4_000057 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.496C>T r.(?) p.(Leu166Phe) Unknown - VUS g.82763828C>T - - - POU3F4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.499C>T r.(?) p.(Arg167*) Parent #1 - pathogenic g.82763831C>T g.83508823C>T - - POU3F4_000040 - PubMed: Stankovic 2010 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - - - - - - - 1 LOVD
+/+ 1 c.499C>T r.(?) p.(Arg167*) Parent #1 - pathogenic g.82763831C>T g.83508823C>T - - POU3F4_000040 - MORL Deafness Variation Database, PubMed: Smith 1993, PubMed: Duzkale 2013, PubMed: Alford 2014, PubMed: Shearer 1993, PubMed: Stankovic 2010 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Smith 1993, PubMed: Duzkale 2013, PubMed: Alford 2014, PubMed: Shearer 1993, PubMed: Stankovic 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.502G>T r.(?) p.(Glu168Ter) Unknown - pathogenic g.82763834G>T g.83508826G>T POU3F4(NM_000307.5):c.502G>T (p.E168*) - POU3F4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.506C>T r.(?) p.(Pro169Leu) Parent #1 - VUS g.82763838C>T g.83508830C>T - - POU3F4_000058 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.540C>A r.(?) p.(Cys180*) Parent #1 - pathogenic g.82763872C>A g.83508864C>A - - POU3F4_000059 - MORL Deafness Variation Database, PubMed: Choi 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Choi 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.549C>T r.(?) p.(His183=) Unknown - likely benign g.82763881C>T - POU3F4(NM_000307.4):c.549C>T (p.H183=) - POU3F4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.601_606del r.(?) p.(Phe201_Lys202del) Parent #1 - pathogenic g.82763933_82763938del g.83508925_83508930del 601_606delTTCAAA - POU3F4_000026 - PubMed: Hagiwara 1998 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - Japan - - - - - 1 LOVD
+/+ 1 c.601_606del r.(?) p.(Phe201_Lys202del) Parent #1 - pathogenic g.82763933_82763938del g.83508925_83508930del - - POU3F4_000026 - MORL Deafness Variation Database, PubMed: Hagiwara 1998 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Hagiwara 1998 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.607_610del r.(?) p.(Gln203Glufs*37) Maternal (confirmed) - pathogenic (recessive) g.82763939_82763942del - 603-610delCAAA - POU3F4_000060 - PubMed: de Kok 1995 - - Germline yes - - - - DNA ? - - deafness FamPat5274 PubMed: Reardon 1991, PubMed: de Kok 1995 5-generation family, 8 affected, 7 unaffected carrier females M - United Kingdom (Great Britain) - - - - - 8 Global Variome, with Curator vacancy
+/. 1 c.623T>A r.(?) p.(Leu208*) Parent #1 - pathogenic g.82763955T>A g.83508947T>A - - POU3F4_000033 - PubMed: Lee 2009 - - Germline - - - - - DNA SEQ - - DFNX - - 3-generation family, 2 affected brothers M - Korea - - - - - 2 LOVD
+/. 1 c.623T>A r.(?) p.(Leu208*) Parent #1 - pathogenic g.82763955T>A g.83508947T>A - - POU3F4_000033 - PubMed: Lee 2009 - - Germline - - - - - DNA SEQ - - ? - - 3-generation family, unaffected carrier mother/grandmother M - Korea - - - - - 2 LOVD
+/+ 1 c.623T>A r.(?) p.(Leu208*) Parent #1 - pathogenic (recessive) g.82763955T>A - - - POU3F4_000033 - PubMed: Choi 2013 - - Germline - - - - - DNA ? - - deafness SB13-29 PubMed: Choi 2013 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.623T>A r.(?) p.(Leu208Ter) Unknown - pathogenic (recessive) g.82763955T>A g.83508947T>A c.623T>A - POU3F4_000033 - PubMed: Choi 2013 - - Germline - - - - - DNA SEQ - - HL SB13-29 PubMed: Choi 2013 family, 2 affected - - Korea - - - - - 2 Johan den Dunnen
+?/. 1 c.632C>T r.(?) p.(Thr211Met) Maternal (confirmed) - likely pathogenic g.82763964C>T g.83508956C>T - - POU3F4_000008 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Byung Yoon Choi
+/. 1 c.632C>T r.(?) p.(Thr211Met) Parent #1 - pathogenic (recessive) g.82763964C>T g.83508956C>T - - POU3F4_000008 - PubMed: Choi 2013, PubMed: Choi 2013 - - Germline - - - - - DNA ? - - deafness SNUBH9-21;SB9 PubMed: Choi 2013, PubMed: Choi 2013 - M - Korea - - - - - 1 Global Variome, with Curator vacancy
+/. - c.632C>T r.(?) p.(Thr211Met) Unknown - pathogenic (recessive) g.82763964C>T g.83508956C>T c.632C>T - POU3F4_000008 - PubMed: Choi 2013 - - Germline - - - - - DNA SEQ - - HL SB09-21 PubMed: Choi 2013 family, 4 affected - - Korea - - - - - 4 Johan den Dunnen
+/. 1 c.647G>A r.(?) p.(Gly216Glu) Parent #1 - pathogenic g.82763979G>A g.83508971G>A - - POU3F4_000039 - PubMed: Li 2010 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - - - - - - - 1 LOVD
+/. 1 c.648del r.(?) p.(Leu217TrpfsTer24) Parent #1 - pathogenic g.82763980del g.83508972del 651delG (D215X) - POU3F4_000019 not in 100 control chromosomes PubMed: de Kok 1995 - - Germline - - - - - DNA SEQ - - DFNX Pat3105 PubMed: de Kok 1995 - M - - - - - - - 1 LOVD
+/+ 1 c.648dup r.(?) p.(Leu217Valfs*9) Parent #1 - pathogenic g.82763980dup g.83508972dup - - POU3F4_000062 - MORL Deafness Variation Database, PubMed: Yang 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Yang 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 1 c.652del r.(?) p.(Ala218Argfs*23) Parent #1 - VUS g.82763984del g.83508976del - - POU3F4_000063 - MORL Deafness Variation Database, PubMed: Smith 1993, PubMed: Alford 2014, PubMed: Shearer 1993 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Smith 1993, PubMed: Alford 2014, PubMed: Shearer 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.655C>T r.(?) p.(=) Unknown - likely benign g.82763987C>T - POU3F4(NM_000307.5):c.655C>T (p.(Leu219=)) - POU3F4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.683C>T r.(?) p.(Ser228Leu) Parent #1 - pathogenic g.82764015C>T g.83509007C>T - - POU3F4_000030 - PubMed: Vore 2005 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - - - - - - - 1 LOVD
+?/. 1 c.686A>G r.(?) p.(Gln229Arg) Maternal (confirmed) - likely pathogenic g.82764018A>G g.83509010A>G - - POU3F4_000007 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Byung Yoon Choi
+/. 1 c.686A>G r.(?) p.(Gln229Arg) Parent #1 - pathogenic (recessive) g.82764018A>G g.83509010A>G - - POU3F4_000007 - PubMed: Choi 2013 - - Germline - - - - - DNA ? - - deafness SB23-54 PubMed: Choi 2013 - - - Korea - - - - - 1 Global Variome, with Curator vacancy
+/. - c.686A>G r.(?) p.(Gln229Arg) Unknown - pathogenic (recessive) g.82764018A>G g.83509010A>G c.686A>G - POU3F4_000007 - PubMed: Choi 2013 - - Germline - - - - - DNA SEQ - - HL SB02-6 PubMed: Choi 2013 family, 2 affected - - Korea - - - - - 2 Johan den Dunnen
+/. 1 c.689C>T r.(?) p.(Thr230Ile) Parent #1 - pathogenic g.82764021C>T g.83509013C>T - - POU3F4_000022 - PubMed: Friedman 1997 - - Unknown - - - - - DNA SEQ - - DFNX - - - - - - - - - - - 1 LOVD
+/+ 1 c.689C>T r.(?) p.(Thr230Ile) Parent #1 - pathogenic g.82764021C>T g.83509013C>T - - POU3F4_000022 - MORL Deafness Variation Database, PubMed: Friedman 1997 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Friedman 1997 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 1 c.695T>C r.(?) p.(Ile232Thr) Parent #1 - likely pathogenic g.82764027T>C g.83509019T>C - - POU3F4_000064 - MORL Deafness Variation Database, PubMed: Smith 1993, PubMed: Duzkale 2013, PubMed: Alford 2014, PubMed: Shearer 1993 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Smith 1993, PubMed: Duzkale 2013, PubMed: Alford 2014, PubMed: Shearer 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.706G>A r.(?) p.(Glu236Lys) Unknown - VUS g.82764038G>A g.83509030G>A - - POU3F4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.706G>A r.(?) p.(Glu236Lys) Maternal (confirmed) ACMG likely pathogenic (recessive) g.82764038G>A g.83509030G>A - - POU3F4_000046 - PubMed: Mei 2021 - - Germline yes - - - - DNA SEQ, PCR, SEQ-NG blood - deafness PK-DB-OKA-01PatIII10/IV5/6 PubMed: Mei 2021 5 males seggregating POU3F4 variant M yes Pakistan Okara - - - - 5 LOVD
+?/. - c.706G>A r.(?) p.(Glu236Lys) Maternal (confirmed) ACMG likely pathogenic (recessive) g.82764038G>A - - - POU3F4_000046 - PubMed: Mei 2021 - - Germline yes - - - - DNA SEQ - - deafness PK-DB-OKA-01PatIII17/IV4 2 affected - M yes Pakistan Okara - - - - 2 Johan den Dunnen
-/. - c.708= r.(=) p.(Glu236=) Unknown - benign g.82764040A>G g.83509032= POU3F4(NM_000307.5):c.708A>G (p.E236=) - POU3F4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.708A>G r.(?) p.(=) Parent #1 - benign g.82764040A>G g.83509032A>G A708G - POU3F4_000003 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Lee 2009 - - Germline - - - - - DNA SEQ - - DFNX - - 3-generation family, 2 affected males M - Korea - - - - - 2 LOVD
-/. 1 c.708A>G r.(?) p.(=) Parent #1 - benign g.82764040A>G g.83509032A>G A708G - POU3F4_000003 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Lee 2009 - - Germline - - - - - DNA SEQ - - DFNX - - 3-generation family, 2 affected brothers M - Korea - - - - - 2 LOVD
-/. 1 c.708A>G r.(?) p.(=) Parent #1 - benign g.82764040A>G g.83509032A>G A708G - POU3F4_000003 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Lee 2009 - - Germline - - - - - DNA SEQ - - ? - - 3-generation family, unaffected carrier mother/grandmother M - Korea - - - - - 2 LOVD
-/. 1 c.708A>G r.(?) p.(=) Parent #1 - benign g.82764040A>G g.83509032A>G A708G - POU3F4_000003 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Lee 2009 - - Germline - - - - - DNA SEQ - - ? - - 3-generation family, unaffected carrier female M - Korea - - - - - 1 LOVD
?/. 1 c.708A>G r.(?) p.(=) Unknown - VUS g.82764040A>G g.83509032A>G - - POU3F4_000003 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - rs5921978 Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 LOVD
-/. - c.710= r.(=) p.(Ala237=) Unknown - benign g.82764042G>C g.83509034= POU3F4(NM_000307.4):c.710G>C (p.G237A), POU3F4(NM_000307.5):c.710G>C (p.G237A) - POU3F4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.710= r.(=) p.(Ala237=) Unknown - benign g.82764042G>C g.83509034= POU3F4(NM_000307.4):c.710G>C (p.G237A), POU3F4(NM_000307.5):c.710G>C (p.G237A) - POU3F4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.710G>C r.(?) p.(Gly237Ala) Parent #1 - benign g.82764042G>C g.83509034G>C G710C - POU3F4_000004 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Lee 2009 - - Germline - - - - - DNA SEQ - - DFNX - - 3-generation family, 2 affected males M - Korea - - - - - 2 LOVD
-/. 1 c.710G>C r.(?) p.(Gly237Ala) Parent #1 - benign g.82764042G>C g.83509034G>C G710C - POU3F4_000004 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Lee 2009 - - Germline - - - - - DNA SEQ - - DFNX - - 3-generation family, 2 affected brothers M - Korea - - - - - 2 LOVD
-/. 1 c.710G>C r.(?) p.(Gly237Ala) Parent #1 - benign g.82764042G>C g.83509034G>C G710C - POU3F4_000004 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Lee 2009 - - Germline - - - - - DNA SEQ - - ? - - 3-generation family, unaffected carrier mother/grandmother M - Korea - - - - - 2 LOVD
-/. 1 c.710G>C r.(?) p.(Gly237Ala) Parent #1 - benign g.82764042G>C g.83509034G>C G710C - POU3F4_000004 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Lee 2009 - - Germline - - - - - DNA SEQ - - ? - - 3-generation family, unaffected carrier female M - Korea - - - - - 1 LOVD
?/. 1 c.710G>C r.(?) p.(Gly237Ala) Unknown - VUS g.82764042G>C g.83509034G>C - - POU3F4_000004 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - rs5921979 Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 LOVD
?/. - c.730A>G r.(?) p.(Asn244Asp) Unknown - VUS g.82764062A>G g.83509054A>G POU3F4(NM_000307.3):c.730A>G (p.(Asn244Asp)) - POU3F4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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