Full data view for gene TCOF1

Information The variants shown are described using the NM_001135243.1 transcript reference sequence.

422 entries on 5 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.-89T>G r.(?) p.(=) Unknown - benign g.149737221T>G g.150357658T>G - - TCOF1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 1 c.-59G>A r.(?) p.(=) Parent #1 - likely benign g.149737251G>A g.150357688G>A - - TCOF1_000101 - MORL Deafness Variation Database, PubMed: Katsanis 1993 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Katsanis 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.1A>T r.(?) p.0? Parent #1 - pathogenic g.149737310A>T g.150357747A>T - - TCOF1_000102 - MORL Deafness Variation Database, PubMed: Bowman 2012 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Bowman 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.3G>A r.(?) p.(Met1?) Unknown - pathogenic g.149737312G>A g.150357749G>A - - TCOF1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.3G>A r.(?) p.0? Parent #1 - pathogenic g.149737312G>A g.150357749G>A - - TCOF1_000030 - MORL Deafness Variation Database, PubMed: Teber 2004 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Teber 2004 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.28del r.(?) p.(Leu10Tyrfs*4) Parent #1 - pathogenic g.149737337del g.150357774del - - TCOF1_000103 - MORL Deafness Variation Database, PubMed: Ellis 2002 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Ellis 2002 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.40A>T r.(?) p.(Ile14Phe) Parent #1 - pathogenic g.149737349A>T g.150357786A>T - - TCOF1_000104 - MORL Deafness Variation Database, PubMed: Dixon 2004 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Dixon 2004 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.41del r.(?) p.(Ile14Thrfs*17) Parent #1 - pathogenic g.149737350del g.150357787del - - TCOF1_000105 - MORL Deafness Variation Database, PubMed: Ellis 2002 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Ellis 2002 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.42C>G r.(?) p.(Ile14Met) Parent #1 - pathogenic g.149737351C>G g.150357788C>G - - TCOF1_000106 - MORL Deafness Variation Database, PubMed: Bowman 2012 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Bowman 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.48_50del r.(?) p.(His17del) Parent #1 - pathogenic g.149737357_149737359del g.150357794_150357796del - - TCOF1_000107 - MORL Deafness Variation Database, PubMed: Ellis 2002 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Ellis 2002 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.50A>G r.(?) p.(His17Arg) Parent #1 - pathogenic g.149737359A>G g.150357796A>G - - TCOF1_000108 - MORL Deafness Variation Database, PubMed: Bowman 2012 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Bowman 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.58C>T r.(?) p.(Arg20Trp) Unknown - VUS g.149737367C>T - TCOF1(NM_001371623.1):c.58C>T (p.(Arg20Trp)) - TCOF1_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.61del r.(?) p.(Ala21Leufs*10) Parent #1 - pathogenic g.149737370del g.150357807del - - TCOF1_000109 - MORL Deafness Variation Database, PubMed: Dixon 2004 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Dixon 2004 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.61G>C r.(?) p.(Ala21Pro) Parent #1 - pathogenic g.149737370G>C g.150357807G>C - - TCOF1_000110 - MORL Deafness Variation Database, PubMed: Bowman 2012 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Bowman 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.77C>T r.(?) p.(Ala26Val) Parent #1 - pathogenic g.149737386C>T g.150357823C>T - - TCOF1_000111 - MORL Deafness Variation Database, PubMed: Fujioka 2008 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Fujioka 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.79G>A r.(?) p.(Ala27Thr) Parent #1 - pathogenic g.149737388G>A g.150357825G>A - - TCOF1_000112 - MORL Deafness Variation Database, PubMed: Bowman 2012 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Bowman 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.87del r.(?) p.(Val30*) Parent #1 - pathogenic g.149737396del g.150357833del - - TCOF1_000113 - MORL Deafness Variation Database, PubMed: Bowman 2012 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Bowman 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.106C>T r.(?) p.(Gln36*) Parent #1 - pathogenic g.149737415C>T g.150357852C>T - - TCOF1_000114 - MORL Deafness Variation Database, PubMed: Edwards 1997 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Edwards 1997 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1i c.109-2A>T r.spl p.? Parent #1 - pathogenic g.149740717A>T g.150361154A>T - - TCOF1_000115 - MORL Deafness Variation Database, PubMed: Bowman 2012 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Bowman 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1i c.109-1del r.spl p.? Parent #1 - pathogenic g.149740718del g.150361155del - - TCOF1_000116 - MORL Deafness Variation Database, PubMed: Edwards 1997 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Edwards 1997 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.122C>T r.(?) p.(Ala41Val) Unknown - likely benign g.149740732C>T g.150361169C>T TCOF1(NM_000356.3):c.122C>T (p.(Ala41Val)), TCOF1(NM_001135243.1):c.122C>T (p.A41V), TCOF1(NM_001135243.2):c.122C>T (p.A41V) - TCOF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.122C>T r.(?) p.(Ala41Val) Unknown - likely benign g.149740732C>T g.150361169C>T TCOF1(NM_000356.3):c.122C>T (p.(Ala41Val)), TCOF1(NM_001135243.1):c.122C>T (p.A41V), TCOF1(NM_001135243.2):c.122C>T (p.A41V) - TCOF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.122C>T r.(?) p.(Ala41Val) Unknown - likely benign g.149740732C>T g.150361169C>T TCOF1(NM_000356.3):c.122C>T (p.(Ala41Val)), TCOF1(NM_001135243.1):c.122C>T (p.A41V), TCOF1(NM_001135243.2):c.122C>T (p.A41V) - TCOF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.122C>T r.(?) p.(Ala41Val) Unknown - likely benign g.149740732C>T g.150361169C>T TCOF1(NM_000356.3):c.122C>T (p.(Ala41Val)), TCOF1(NM_001135243.1):c.122C>T (p.A41V), TCOF1(NM_001135243.2):c.122C>T (p.A41V) - TCOF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.122C>T r.(?) p.(Ala41Val) Unknown - likely benign g.149740732C>T - TCOF1(NM_000356.3):c.122C>T (p.(Ala41Val)), TCOF1(NM_001135243.1):c.122C>T (p.A41V), TCOF1(NM_001135243.2):c.122C>T (p.A41V) - TCOF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.149A>C r.(?) p.(Tyr50Ser) Unknown - pathogenic g.149740759A>C g.150361196A>C - - TCOF1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.149A>G r.(?) p.(Tyr50Cys) Unknown - pathogenic g.149740759A>G g.150361196A>G - - TCOF1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.149A>G r.(?) p.(Tyr50Cys) Parent #1 - pathogenic g.149740759A>G g.150361196A>G - - TCOF1_000031 - MORL Deafness Variation Database, PubMed: Katsanis 1993, PubMed: Splendore 2002 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Katsanis 1993, PubMed: Splendore 2002 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.150T>A r.(?) p.(Tyr50*) Unknown ACMG pathogenic (dominant) g.149740760T>A g.150361197T>A - - TCOF1_000340 - - - - De novo - - - - - DNA SEQ - - TCS1 - - - F no Italy - 35y - - - 1 Francesco Brancati
+/+ 2 c.157T>C r.(?) p.(Trp53Arg) Parent #1 - pathogenic g.149740767T>C g.150361204T>C - - TCOF1_000117 - MORL Deafness Variation Database, PubMed: Edwards 1997, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Edwards 1997, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.159G>A r.(?) p.(Trp53*) Parent #1 - pathogenic g.149740769G>A g.150361206G>A - - TCOF1_000118 - MORL Deafness Variation Database, PubMed: Bowman 2012 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Bowman 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.162A>G r.(?) p.(Gln54=) Unknown - likely benign g.149740772A>G g.150361209A>G TCOF1(NM_000356.3):c.162A>G (p.(Gln54=)) - TCOF1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.163C>T r.(?) p.(Gln55*) Parent #1 - pathogenic g.149740773C>T g.150361210C>T - - TCOF1_000119 - MORL Deafness Variation Database, PubMed: Ellis 2002, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Ellis 2002, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.163C>T r.(?) p.(Gln55*) Unknown - pathogenic (dominant) g.149740773C>T g.150361210C>T - - TCOF1_000119 - - - - De novo - - - - - DNA SEQ-NG-I - - TCS1 - - - M no China African 00y06m - - - 1 Jinxiu Liu
+/. - c.164+1G>A r.spl? p.? Unknown - pathogenic g.149740775G>A g.150361212G>A - - TCOF1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.187C>T r.(?) p.(Arg63Trp) Unknown - likely benign g.149743698C>T - TCOF1(NM_001135243.1):c.187C>T (p.R63W) - TCOF1_000348 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.188G>A r.(?) p.(Arg63Gln) Unknown - likely benign g.149743699G>A g.150364136G>A TCOF1(NM_000356.3):c.188G>A (p.(Arg63Gln)), TCOF1(NM_001135243.1):c.188G>A (p.R63Q) - TCOF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.188G>A r.(?) p.(Arg63Gln) Unknown - likely benign g.149743699G>A g.150364136G>A TCOF1(NM_000356.3):c.188G>A (p.(Arg63Gln)), TCOF1(NM_001135243.1):c.188G>A (p.R63Q) - TCOF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.218_219insAACC r.(?) p.(Lys74Thrfs*2) Parent #1 - pathogenic g.149743729_149743730insAACC g.150364166_150364167insAACC - - TCOF1_000120 - MORL Deafness Variation Database, PubMed: Masotti 2009 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Masotti 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.230G>A r.(?) p.(Arg77His) Unknown - likely benign g.149743741G>A - TCOF1(NM_001371623.1):c.230G>A (p.(Arg77His)) - TCOF1_000373 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.274del r.(?) p.(Glu92Lysfs*14) Parent #1 - pathogenic g.149743785del g.150364222del - - TCOF1_000121 - MORL Deafness Variation Database, PubMed: Edwards 1997 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Edwards 1997 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.277G>T r.(?) p.(Glu93*) Parent #1 - pathogenic g.149743788G>T g.150364225G>T - - TCOF1_000122 - MORL Deafness Variation Database, PubMed: Edwards 1997, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Edwards 1997, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.295G>A r.(?) p.(Ala99Thr) Unknown - likely benign g.149743806G>A g.150364243G>A TCOF1(NM_000356.3):c.295G>A (p.(Ala99Thr)), TCOF1(NM_001135243.1):c.295G>A (p.A99T) - TCOF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.295G>A r.(?) p.(Ala99Thr) Unknown - likely benign g.149743806G>A g.150364243G>A TCOF1(NM_000356.3):c.295G>A (p.(Ala99Thr)), TCOF1(NM_001135243.1):c.295G>A (p.A99T) - TCOF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.303_304del r.(?) p.(Thr102Profs*72) Parent #1 - pathogenic g.149743814_149743815del g.150364251_150364252del - - TCOF1_000123 - MORL Deafness Variation Database, PubMed: Conte 2011 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Conte 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3i c.304+5G>C r.spl? p.? Parent #1 - pathogenic g.149743820G>C g.150364257G>C - - TCOF1_000124 - MORL Deafness Variation Database, PubMed: Edwards 1997 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Edwards 1997 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3i c.305-1G>A r.spl p.? Parent #1 - pathogenic g.149747406G>A g.150367843G>A - - TCOF1_000125 - MORL Deafness Variation Database, PubMed: Splendore 2002, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Splendore 2002, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.343del r.(?) p.(Ala115Argfs*7) Parent #1 - pathogenic g.149747445del g.150367882del - - TCOF1_000126 - MORL Deafness Variation Database, PubMed: Teber 2004 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Teber 2004 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.357_358del r.(?) p.(Ser120Hisfs*54) Parent #1 - pathogenic g.149747459_149747460del g.150367896_150367897del - - TCOF1_000127 - MORL Deafness Variation Database, PubMed: Bowman 2012 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Bowman 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.376_378+15del r.spl p.? Parent #1 - pathogenic g.149747478_149747495del g.150367915_150367932del - - TCOF1_000128 - MORL Deafness Variation Database, PubMed: Marszalek 2003 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Marszalek 2003 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4i c.379-2A>G r.spl p.? Parent #1 - pathogenic g.149748277A>G g.150368714A>G - - TCOF1_000129 - MORL Deafness Variation Database, PubMed: Teber 2004, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Teber 2004, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.386_387del r.(?) p.(Thr129Argfs*45) Parent #1 - pathogenic g.149748286_149748287del g.150368723_150368724del - - TCOF1_000130 - MORL Deafness Variation Database, PubMed: Katsanis 1993, PubMed: Richards 2015 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Katsanis 1993, PubMed: Richards 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.389dup r.(?) p.(Lys131Glufs*44) Parent #1 - pathogenic g.149748289dup g.150368726dup - - TCOF1_000131 - MORL Deafness Variation Database, PubMed: Dixon 2004 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Dixon 2004 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.390_391del r.(?) p.(Lys131Serfs*43) Parent #1 - pathogenic g.149748290_149748291del g.150368727_150368728del - - TCOF1_000132 - MORL Deafness Variation Database, PubMed: Teber 2004 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Teber 2004 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.405_406del r.(?) p.(Gly136Glufs*38) Parent #1 - pathogenic g.149748305_149748306del g.150368742_150368743del - - TCOF1_000133 - MORL Deafness Variation Database, PubMed: Gladwin 1996 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Gladwin 1996 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.408del r.(?) p.(Asn137Ilefs*82) Parent #1 - pathogenic g.149748308del g.150368745del - - TCOF1_000134 - MORL Deafness Variation Database, PubMed: Teber 2004 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Teber 2004 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.422dup r.(?) p.(His141Glnfs*34) Parent #1 - pathogenic g.149748322dup g.150368759dup - - TCOF1_000135 - MORL Deafness Variation Database, PubMed: Wise 1997, PubMed: Katsanis 1993 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Wise 1997, PubMed: Katsanis 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.431del r.(?) p.(Thr144Metfs*75) Parent #1 - pathogenic g.149748331del g.150368768del - - TCOF1_000136 - MORL Deafness Variation Database, PubMed: Masotti 2009 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Masotti 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.440C>T r.(?) p.(Thr147Met) Unknown - likely benign g.149748340C>T - TCOF1(NM_001135243.1):c.440C>T (p.(Thr147Met)) - TCOF1_000378 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.449A>G r.(?) p.(Asn150Ser) Unknown - likely benign g.149748349A>G g.150368786A>G - - TCOF1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.475A>T r.(?) p.(Lys159*) Parent #1 - pathogenic g.149748375A>T g.150368812A>T - - TCOF1_000137 - MORL Deafness Variation Database, PubMed: Fujioka 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Fujioka 2008, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.497_500del r.(?) p.(Asn166Ilefs*52) Parent #1 - pathogenic g.149748397_149748400del g.150368834_150368837del - - TCOF1_000138 - MORL Deafness Variation Database, PubMed: Wise 1997, PubMed: Katsanis 1993 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Wise 1997, PubMed: Katsanis 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.503C>T r.(?) p.(Thr168Met) Unknown - likely benign g.149748403C>T g.150368840C>T TCOF1(NM_000356.3):c.503C>T (p.(Thr168Met)) - TCOF1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.503C>T r.(?) p.(Thr168Met) Parent #1 ACMG likely benign g.149748403C>T g.150368840C>T - - TCOF1_000072 ACMG BS1, BS2, BP1, BP4, BP6 PubMed: Estandia-Ortega 2022 - rs181203524 Germline ? 1/49 patients HpyCH4IV- - - DNA SEQ-NG-I gDNA from peripheral blood gene-panel sequencing OAS EFAV_55 PubMed: Estandia-Ortega 2022 1 patient (Male) M no Mexico - - - - none 1 Miriam Erandi Reyna-Fabián
+/+ 5 c.514_515del r.(?) p.(Glu172Asnfs*2) Parent #1 - pathogenic g.149748414_149748415del g.150368851_150368852del - - TCOF1_000139 - MORL Deafness Variation Database, PubMed: Ellis 2002 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Ellis 2002 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.519del r.(?) p.(Glu174Argfs*45) Parent #1 - pathogenic g.149748419del g.150368856del - - TCOF1_000140 - MORL Deafness Variation Database, PubMed: Conte 2011 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Conte 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.534C>T r.(?) p.(Ser178=) Unknown - likely benign g.149748434C>T - TCOF1(NM_001135243.1):c.534C>T (p.S178=) - TCOF1_000344 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5i c.565+1G>A r.spl p.? Parent #1 - pathogenic g.149748466G>A g.150368903G>A - - TCOF1_000141 - MORL Deafness Variation Database, PubMed: Bowman 2012 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Bowman 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5i c.566-10C>A r.spl? p.? Parent #1 - pathogenic g.149749082C>A g.150369519C>A - - TCOF1_000142 - MORL Deafness Variation Database, PubMed: Bowman 2012 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Bowman 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.566-1G>A r.spl? p.? Unknown - pathogenic g.149749091G>A g.150369528G>A - - TCOF1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.566G>A r.(?) p.(Gly189Glu) Unknown - VUS g.149749092G>A - TCOF1(NM_001135243.1):c.566G>A (p.G189E) - TCOF1_000357 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.574_589del r.(?) p.(Ser192Thrfs*22) Parent #1 - pathogenic g.149749100_149749115del g.150369537_150369552del - - TCOF1_000143 - MORL Deafness Variation Database, PubMed: Teber 2004 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Teber 2004 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.579G>A r.(?) p.(Ala193=) Unknown - benign g.149749105G>A g.150369542G>A TCOF1(NM_001135243.1):c.579G>A (p.A193=) - TCOF1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.599del r.(?) p.(Ser200Thrfs*19) Parent #1 - pathogenic g.149749125del g.150369562del - - TCOF1_000144 - MORL Deafness Variation Database, PubMed: Conte 2011 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Conte 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.618del r.(?) p.(Ser207Valfs*12) Parent #1 - pathogenic g.149749144del g.150369581del - - TCOF1_000145 - MORL Deafness Variation Database, PubMed: Bowman 2012 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Bowman 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.631_632del r.(?) p.(Asp211Argfs*20) Parent #1 - pathogenic g.149749157_149749158del g.150369594_150369595del - - TCOF1_000146 - MORL Deafness Variation Database, PubMed: Gladwin 1996 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Gladwin 1996 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.639+1G>A r.spl p.? Parent #1 - pathogenic g.149749166G>A g.150369603G>A - - TCOF1_000147 - MORL Deafness Variation Database, PubMed: Masotti 2009, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Masotti 2009, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.639+6T>G r.(=) p.(=) Unknown - likely benign g.149749171T>G - TCOF1(NM_001135243.1):c.639+6T>G - TCOF1_000358 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.713C>T r.(?) p.(Ala238Val) Unknown - likely benign g.149751642C>T - TCOF1(NM_001008657.2):c.713C>T (p.(Ala238Val)) - TCOF1_000366 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.724C>T r.(?) p.(Pro242Ser) Unknown - VUS g.149751653C>T g.150372090C>T TCOF1(NM_001008657.2):c.724C>T (p.(Pro242Ser)), TCOF1(NM_001135243.2):c.724C>T (p.P242S) - TCOF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.724C>T r.(?) p.(Pro242Ser) Unknown - likely benign g.149751653C>T - TCOF1(NM_001008657.2):c.724C>T (p.(Pro242Ser)), TCOF1(NM_001135243.2):c.724C>T (p.P242S) - TCOF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.726del r.(?) p.(Lys244Argfs*5) Parent #1 - pathogenic g.149751655del g.150372092del - - TCOF1_000148 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - TCS - - - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.827_844del r.(?) p.(Gly276_Glu281del) Unknown - VUS g.149751756_149751773del g.150372193_150372210del TCOF1(NM_001008657.2):c.817_834del (p.(Gly276_Glu281del)), TCOF1(NM_001135243.1):c.827_844delGATCTGAAAGTGAGGAGG (p.G276_E281del), TCOF1(NM_0011352...) - TCOF1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.827_844del r.(?) p.(Gly276_Glu281del) Unknown - likely benign g.149751756_149751773del g.150372193_150372210del TCOF1(NM_001008657.2):c.817_834del (p.(Gly276_Glu281del)), TCOF1(NM_001135243.1):c.827_844delGATCTGAAAGTGAGGAGG (p.G276_E281del), TCOF1(NM_0011352...) - TCOF1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.827_844del r.(?) p.(Gly276_Glu281del) Unknown - likely benign g.149751756_149751773del - TCOF1(NM_001008657.2):c.817_834del (p.(Gly276_Glu281del)), TCOF1(NM_001135243.1):c.827_844delGATCTGAAAGTGAGGAGG (p.G276_E281del), TCOF1(NM_0011352...) - TCOF1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.870+1G>A r.spl? p.? Unknown - likely benign g.149751800G>A - TCOF1(NM_001371623.1):c.870+1G>A - TCOF1_000374 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.889del r.(?) p.(Ile297Phefs*30) Parent #1 - pathogenic g.149753755del g.150374192del - - TCOF1_000149 - MORL Deafness Variation Database, PubMed: Ellis 2002 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Ellis 2002 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.932del r.(?) p.(Pro311Leufs*16) Parent #1 - pathogenic g.149753798del g.150374235del - - TCOF1_000150 - MORL Deafness Variation Database, PubMed: Dixon 2004 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Dixon 2004 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.939dup r.(?) p.(Gly314Argfs*35) Unknown - pathogenic (dominant) g.149753805dup - 708dupA - TCOF1_000343 - - - - De novo - - - - - DNA SEQ-NG - - TCS1 Case 4 proband - - - - - - - - - - 1 Zhaoyu Pan
+/+ - c.951_958del r.(?) p.(Ala318Trpfs*28) Parent #1 - pathogenic g.149753817_149753824del g.150374254_150374261del - - TCOF1_000151 - MORL Deafness Variation Database, PubMed: Splendore 2002 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Splendore 2002 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.959dup r.(?) p.(Gly321Trpfs*28) Parent #1 - pathogenic g.149753825dup g.150374262dup - - TCOF1_000040 - MORL Deafness Variation Database, PubMed: The Treacher Collins Syndrome Collaborative Group 1996 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: The Treacher Collins Syndrome Collaborative Group 1996 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.966G>T r.(?) p.(Lys322Asn) Unknown - VUS g.149753832G>T - TCOF1(NM_000356.3):c.735G>T (p.(Lys245Asn)) - TCOF1_000359 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.975dup r.(?) p.(Val326Cysfs*23) Parent #1 - pathogenic g.149753841dup g.150374278dup - - TCOF1_000152 - MORL Deafness Variation Database, PubMed: Horiuchi 2005 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Horiuchi 2005 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.983C>G r.(?) p.(Ser328Cys) Unknown - VUS g.149753849C>G g.150374286C>G TCOF1(NM_000356.3):c.752C>G (p.(Ser251Cys)) - TCOF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.985C>T r.(?) p.(Gln329Ter) Unknown - pathogenic g.149753851C>T g.150374288C>T - - TCOF1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.985C>T r.(?) p.(Gln329*) Parent #1 - pathogenic g.149753851C>T g.150374288C>T - - TCOF1_000098 - MORL Deafness Variation Database, PubMed: Katsanis 1993, PubMed: The Treacher Collins Syndrome Collaborative Group 1996, PubMed: Edwards 1997, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Katsanis 1993, PubMed: The Treacher Collins Syndrome Collaborative Group 1996, PubMed: Edwards 1997, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.999G>A r.(?) p.(Gly333=) Unknown - likely benign g.149753865G>A g.150374302G>A TCOF1(NM_001135243.1):c.999G>A (p.G333=) - TCOF1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.999_1000insT r.(?) p.(Lys334*) Unknown ACMG pathogenic g.149753865_149753866insT g.150374302_150374303insT g.149753865_149 - TCOF1_000372 - - - - De novo - - - - - DNA SEQ - - TCS - - - F - Germany - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/+ - c.1016C>G r.(?) p.(Ser339*) Parent #1 - pathogenic g.149753882C>G g.150374319C>G - - TCOF1_000153 - MORL Deafness Variation Database, PubMed: Bowman 2012 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Bowman 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ - c.1017del r.(?) p.(Glu340Argfs*153) Parent #1 - pathogenic g.149753883del g.150374320del - - TCOF1_000154 - MORL Deafness Variation Database, PubMed: Splendore 2002 - - SUMMARY record - - - - - DNA ? - - TCS - PubMed: Splendore 2002 - - - - - - - - - 1 Global Variome, with Curator vacancy
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