Unique variants in the DFNB31 gene


This database is one of the ”Retinal and hearing impairment genetic variant databases”.NOTE: gene name changed from DFNB31 to WHRN.
Information The variants shown are described using the NM_015404.3 transcript reference sequence.

136 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/- 2 1 c.-91C>T r.(=) p.(=) - benign g.117267172G>A g.114504892G>A - - DFNB31_000071 Heterozygous, homozygous PubMed: Besnard et al., 2011 - rs2297814 Germline - - - - - Anne-Françoise Roux
?/. 1 - c.1A>G r.(?) p.Met1_Pro92del - VUS g.117267081T>C g.114504801T>C - - DFNB31_000101 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - Manou Sommen
-?/. 1 - c.19G>C r.(?) p.(Gly7Arg) - likely benign g.117267063C>G g.114504783C>G DFNB31(NM_015404.3):c.19G>C (p.G7R) - DFNB31_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/-?, -?/. 2 1 c.33C>G r.(?) p.(Ser11Arg) ACMG likely benign g.117267049G>C g.114504769G>C DFNB31(NM_015404.3):c.33C>G (p.S11R) - DFNB31_000045 heterozygous, {USMAWHRN:S11R} {MSV3dQ9P202:p.Ser11Arg}, VKGL data sharing initiative Nederland PubMed: Bonnet et al., 2011 - rs45527543 CLASSIFICATION record, Germline - 0/494 controls +MnlI;-BanII;-AluI;-CviKI_1;-SacI;-BsiHKAI; - - VKGL-NL_Rotterdam, Anne-Françoise Roux
?/. 1 - c.44C>T r.(?) p.(Thr15Ile) - VUS g.117267038G>A - WHRN(NM_015404.3):c.44C>T (p.T15I) - DFNB31_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.46G>A r.(?) p.(Gly16Ser) - VUS g.117267036C>T - WHRN(NM_015404.3):c.46G>A (p.G16S) - DFNB31_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 6 1 c.117G>A r.(?) p.(=) ACMG benign, likely benign g.117266965C>T g.114504685C>T - - DFNB31_000009 Heterozygous, homozygous PubMed: Aller et al., 2010, PubMed: Besnard et al., 2011, PubMed: Jaijo et al., 2010, 1 more item - rs2297815 Germline - 0.383 (patients) +CviQI;+RsaI;+BsiWI;-HinP1I;-HhaI; - - Anne-Françoise Roux, Jose Maria Millan
+/. 1 1 c.160C>T r.? p.? - pathogenic g.117266922G>A - c.160C>T - DFNB31_000163 - PubMed: Nishiguchi-2013 - - Germline - - - - - LOVD
?/. 1 - c.191C>A r.(?) p.(Ala64Asp) - VUS g.117266891G>T g.114504611G>T DFNB31(NM_015404.3):c.191C>A (p.A64D) - DFNB31_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/-?, -?/. 2 1 c.229A>T r.(?) p.(Thr77Ser) ACMG likely benign g.117266853T>A g.114504573T>A DFNB31(NM_015404.3):c.229A>T (p.T77S) - DFNB31_000025 heterozygous, {USMAWHRN:T77S} {MSV3dQ9P202:p.Thr77Ser}, VKGL data sharing initiative Nederland PubMed: Aller et al., 2010 - rs56204273 CLASSIFICATION record, Germline - 0.003 (patients) -FspI - - VKGL-NL_Rotterdam, Anne-Françoise Roux
+/+ 2 1 c.307C>T r.(?) p.(Gln103*) - pathogenic g.117266775G>A g.114504495G>A - - DFNB31_000007 Heterozygous PubMed: Ebermann et al., 2007 - - Germline - 0/100 controls +BfaI;-PvuII;-MspA1I; - - David Baux
?/. 2 - c.328A>G r.(?) p.(Thr110Ala) - VUS g.117266754T>C g.114504474T>C DFNB31(NM_015404.3):c.328A>G (p.T110A), WHRN(NM_015404.3):c.328A>G (p.T110A) - DFNB31_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.344A>G r.(?) p.(Tyr115Cys) - VUS g.117266738T>C g.114504458T>C - - DFNB31_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.(355del) r.(?) p.(Thr119Profs*23) - pathogenic g.(117266727)del - - - DFNB31_000000 - Baradaran-Heravi ASHG2018 P2366 - - Germline - - - - - Johan den Dunnen
?/. 2 - c.376_378del r.(?) p.(Ala126del) - VUS g.117266706_117266708del g.114504426_114504428del WHRN(NM_015404.3):c.376_378delGCC (p.A126del) - DFNB31_000158 no genotypes reported, VKGL data sharing initiative Nederland PubMed: Sergouniotis 2016 - rs777938907 CLASSIFICATION record, Germline - 1/486 individuals - - - VKGL-NL_Rotterdam
-?/. 1 - c.401G>A r.(?) p.(Gly134Glu) - likely benign g.117266681C>T g.114504401C>T WHRN(NM_015404.3):c.401G>A (p.G134E) - DFNB31_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/-?, ?/. 2 1 c.409G>C r.(?) p.(Glu137Gln) ACMG likely benign, VUS g.117266673C>G g.114504393C>G WHRN(NM_015404.3):c.409G>C (p.E137Q) - DFNB31_000064 heterozygous, {USMAWHRN:E137Q} {MSV3dQ9P202:p.Glu137Gln}, VKGL data sharing initiative Nederland PubMed: Le Quesne Stabej et al., 2012 - rs41297175 CLASSIFICATION record, Germline - 0/134 controls +BspMI;+BfuAI;- - - VKGL-NL_Rotterdam, Maria Bitner-Glindzicz
-/-? 1 1i c.618+341A>G r.(=) p.(=) ACMG likely benign g.117266123T>C g.114503843T>C - - DFNB31_000060 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - rs150845016 Germline - - -Tsp509I - - Maria Bitner-Glindzicz
-/-? 1 1i c.618+495C>T r.(=) p.(=) ACMG likely benign g.117265969G>A g.114503689G>A - - DFNB31_000057 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - - -BciVI;-AcuI; - - Maria Bitner-Glindzicz
-/- 2 1i c.618+626A>G r.(=) p.(=) - benign g.117265838T>C g.114503558T>C - - DFNB31_000055 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - rs79604999 Germline - - +BssKI;+NlaIV;+StyD4I;+BstNI;+PspGI;-BfaI; - - Maria Bitner-Glindzicz
-/-? 1 1i c.618+931G>T r.(=) p.(=) ACMG likely benign g.117265533C>A g.114503253C>A - - DFNB31_000050 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - - none - - Maria Bitner-Glindzicz
-/-? 1 1i c.618+1022G>A r.(=) p.(=) ACMG likely benign g.117265442C>T g.114503162C>T - - DFNB31_000061 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - - -BbvI;-AvrII;-Fnu4HI;-MwoI;-ApeKI;-TseI; - - Maria Bitner-Glindzicz
-?/-? 1 1i c.619-41G>A r.(=) p.(=) ACMG likely benign g.117241092C>T g.114478812C>T 619-41A>G - DFNB31_000035 Heterozygous PubMed: Aller et al., 2010 - - Germline - 0.003 (patients) -BssKI;-NlaIV;-StyD4I;-MspI;-HpaII;-BanI; - - Anne-Françoise Roux
-?/. 1 - c.627G>A r.(?) p.(Lys209=) - likely benign g.117241043C>T - WHRN(NM_015404.3):c.627G>A (p.K209=) - DFNB31_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.660A>G r.(?) p.(Ser220=) - likely benign g.117241010T>C g.114478730T>C WHRN(NM_015404.3):c.660A>G (p.S220=) - DFNB31_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.667C>T r.(?) p.(Arg223Cys) - benign g.117241003G>A g.114478723G>A WHRN(NM_015404.3):c.667C>T (p.R223C) - DFNB31_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 6 - c.668G>A r.(?) p.(Arg223His) - benign, VUS g.117241002C>T g.114478722C>T 1 more item - DFNB31_000126 37/1266 control chromosomes, VKGL data sharing initiative Nederland, 2 more items PubMed: Narang 2020, Journal: Narang 2020, PubMed: Xu 2015 - rs146273185 CLASSIFICATION record, Germline - 199/2795 individuals, 4/314 case chromosomes, 9/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_AMC, Mohammed Faruq
+/+ 1 2 c.680dup r.(?) p.(Tyr228Leufs*37) - pathogenic g.117240994dup g.114478714dup - - DFNB31_000011 Heterozygous PubMed: Besnard et al., 2011 - - Germline - - none - - Anne-Françoise Roux
-?/. 1 - c.685G>A r.(?) p.(Val229Ile) - likely benign g.117240985C>T - WHRN(NM_015404.3):c.685G>A (p.V229I) - DFNB31_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.716C>T r.(?) p.(Pro239Leu) - VUS g.117240954G>A g.114478674G>A DFNB31(NM_015404.3):c.716C>T (p.P239L) - DFNB31_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 6 2 c.737del r.(?) p.(Pro246Hisfs*13) - pathogenic g.117240936del g.114478656del 737delC - DFNB31_000012 Heterozygous, homozygous PubMed: Audo et al., 2011, PubMed: Besnard et al., 2011, PubMed: Bonnet et al., 2011 - - Germline - - none - - Anne-Françoise Roux
-/-? 2 2 c.755A>G r.(?) p.(Gln252Arg) ACMG likely benign g.117240915T>C g.114478635T>C - - DFNB31_000059 heterozygous, {USMAWHRN:Q252R} {MSV3dQ9P202:p.Gln252Arg} PubMed: Le Quesne Stabej et al., 2012 - - Germline - 0/182 controls +Sau96I;+BssKI;+NlaIV;+StyD4I;-BseYI;-XcmI; - - Maria Bitner-Glindzicz
-/. 2 - c.764G>A r.(?) p.(Gly255Asp) - benign g.117240906C>T g.114478626C>T DFNB31(NM_015404.3):c.764G>A (p.G255D), WHRN(NM_015404.3):c.764G>A (p.G255D) - DFNB31_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/+ 2 2 c.837+1G>A r.spl p.? - pathogenic g.117240832C>T g.114478552C>T - - DFNB31_000008 Heterozygous, RT-PCR revealed an in-frame skipping of exon, 1 more item PubMed: Ebermann et al., 2007 - - Germline - 0/100 controls -HphI - - David Baux
-?/-? 1 2i c.837+41G>A r.(?) p.(=) ACMG likely benign g.117240792C>T g.114478512C>T 837+41A>G - DFNB31_000036 Heterozygous PubMed: Aller et al., 2010 - - Germline - 0.005 (patients) -HpyCH4III - - Anne-Françoise Roux
?/. 1 - c.863G>A r.(?) p.(Arg288Gln) - VUS g.117228647C>T g.114466367C>T WHRN(NM_015404.3):c.863G>A (p.R288Q) - DFNB31_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.878C>G r.(?) p.(Thr293Arg) - VUS g.117228632G>C g.114466352G>C WHRN(NM_015404.3):c.878C>G (p.T293R) - DFNB31_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.933A>C r.(?) p.(Pro311=) - likely benign g.117228577T>G g.114466297T>G WHRN(NM_001173425.2):c.933A>C (p.P311=), WHRN(NM_015404.3):c.933A>C (p.P311=) - DFNB31_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/? 1 3 c.955G>T r.(?) p.(Gly319Trp) ACMG VUS g.117228555C>A g.114466275C>A - - DFNB31_000080 heterozygous, {USMAWHRN:G319W} {MSV3dQ9P202:p.Gly319Trp} PubMed: Bujakowska et al., 2014 - rs143165834 Germline - - - - - Anne-Françoise Roux
+/+ 1 3i c.963+1G>A r.spl p.? - pathogenic g.117228546C>T g.114466266C>T - - DFNB31_000081 homozygous PubMed: Jiang et al., 2015 - - Germline - - - - - Anne-Françoise Roux
-?/. 1 - c.963+6_963+7dup r.(=) p.(=) - likely benign g.117228541_117228542dup g.114466261_114466262dup WHRN(NM_015404.3):c.963+6_963+7dupGG - DFNB31_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 3 3i c.964-21A>G r.(?) p.(=) - benign g.117188714T>C g.114426434T>C - - DFNB31_000013 Heterozygous, homozygous PubMed: Aller et al., 2010 - rs2274163 Germline - 0.292 (patients) none - - Anne-Françoise Roux
?/. 1 - c.994C>T r.(?) p.(Arg332Trp) - VUS g.117188663G>A g.114426383G>A WHRN(NM_015404.3):c.994C>T (p.R332W) - DFNB31_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.998G>A r.(?) p.(Ser333Asn) - VUS g.117188659C>T g.114426379C>T WHRN(NM_015404.3):c.998G>A (p.S333N) - DFNB31_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-?, ?/. 2 4 c.1048C>T r.(?) p.(Arg350Trp) ACMG likely benign, VUS g.117188609G>A g.114426329G>A - - DFNB31_000026 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Aller et al., 2010, PubMed: Narang 2020, Journal: Narang 2020 - rs142990800 Germline - 0.003 (patients), 1/2794 individuals -NmeAIII - - Anne-Françoise Roux, Mohammed Faruq
?/. 1 - c.1049G>A r.(?) p.(Arg350Gln) - VUS g.117188608C>T - WHRN(NM_015404.3):c.1049G>A (p.R350Q) - DFNB31_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1091= r.(=) p.(His364=) - benign g.117188566C>T g.114426286= WHRN(NM_015404.4):c.1091G>A (p.R364H) - DFNB31_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/- 1 4 c.1091A>G r.(?) p.(His364Arg) - benign g.117188566T>C - - - DFNB31_000072 1 more item PubMed: Besnard et al., 2011 - rs10817610 Germline - - +BaeGI;+Bsp1286I;-FatI;-NlaIII;-CviAII; - - Anne-Françoise Roux
-?/. 1 - c.1125C>T r.(?) p.(Ile375=) - likely benign g.117188532G>A - WHRN(NM_001173425.2):c.1125C>T (p.I375=) - DFNB31_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/-?, -?/., ?/. 5 4 c.1135C>T r.(?) p.(Arg379Trp) ACMG likely benign, VUS g.117188522G>A g.114426242G>A WHRN(NM_015404.3):c.1135C>T (p.R379W) - DFNB31_000046 5 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item PubMed: Bonnet et al., 2011, PubMed: Bujakowska et al., 2014, 1 more item - rs56059137 CLASSIFICATION record, Germline - 0/306 controls, 5/2795 individuals +PspGI;+BstNI;+PflMI;-MspI;-HpaII;-NciI; - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Anne-Françoise Roux, Mohammed Faruq
-?/-?, ?/. 4 4 c.1148C>A r.(?) p.(Thr383Asn) ACMG likely benign, VUS g.117188509G>T g.114426229G>T 1 more item - DFNB31_000027 heterozygous, {USMAWHRN:T383N} {MSV3dQ9P202:p.Thr383Asn}, VKGL data sharing initiative Nederland PubMed: Aller et al., 2010, PubMed: Le Quesne Stabej et al., 2012 - - CLASSIFICATION record, Germline - 0.005 (patients) -BsmAI;-BsaI;-NcoI;-StyI;-BsaJI;-BtgI; - - VKGL-NL_Rotterdam, VKGL-NL_AMC, Anne-Françoise Roux, Maria Bitner-Glindzicz
-?/-? 1 4 c.1148C>G r.(?) p.(Thr383Ser) ACMG likely benign g.117188509G>C g.114426229G>C - - DFNB31_000028 {USMAWHRN:T383S} {MSV3dQ9P202:p.Thr383Ser} PubMed: Aller et al., 2010 - - Germline - 0.003 (patients) -BsmAI;-BsaI;-NcoI;-StyI;-BsaJI;-BtgI; - - Anne-Françoise Roux
-?/. 1 - c.1149C>T r.(?) p.(Thr383=) - likely benign g.117188508G>A g.114426228G>A WHRN(NM_015404.3):c.1149C>T (p.T383=) - DFNB31_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/-? 1 4 c.1160C>G r.(?) p.(Ser387Trp) ACMG likely benign g.117188497G>C g.114426217G>C - - DFNB31_000074 heterozygous, {USMAWHRN:S387W} {MSV3dQ9P202:p.Ser387Trp} PubMed: Glöcke et al., 2013 - - Germline - - +BmrI;+BsrI;-NmeAIII; - - Anne-Françoise Roux
-/-? 2 4i c.1166+18G>A r.(?) p.(=) ACMG likely benign g.117188473C>T g.114426193C>T - - DFNB31_000054 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - rs149202009 Germline - - -Cac8I - - Maria Bitner-Glindzicz
-?/-? 1 5i c.1203+114C>T r.(?) p.(=) ACMG likely benign g.117187154G>A g.114424874G>A - - DFNB31_000037 Heterozygous PubMed: Aller et al., 2010 - - Germline - 0.005 (patients) +AluI - - Anne-Françoise Roux
-/-? 1 5i c.1204-33G>A r.(?) p.(=) ACMG likely benign g.117186859C>T g.114424579C>T - - DFNB31_000051 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - rs78371346 Germline - - -DdeI;-EcoRI; - - Maria Bitner-Glindzicz
-?/-? 1 5i c.1204-17A>G r.(?) p.(=) ACMG likely benign g.117186843T>C g.114424563T>C - - DFNB31_000073 Heterozygous PubMed: Besnard, Garcia-Garcia et al., 2014 - rs200002920 Germline - - - - - Anne-Françoise Roux
+/+, +/. 2 6 c.1267C>T r.(?) p.(Arg423*) - pathogenic g.117186763G>A g.114424483G>A - - DFNB31_000078 1 heterozygous, no homozygous; Clinindb (India), Heterozygous PubMed: Ben-Salem et al., 2014, PubMed: Narang 2020, Journal: Narang 2020 - rs397517255 Germline - 1/2793 individuals - - - Anne-Françoise Roux, Mohammed Faruq
+?/? 1 6 c.1292G>A r.(?) p.(Arg431Gln) ACMG VUS g.117186738C>T g.114424458C>T - - DFNB31_000076 heterozygous, {USMAWHRN:R431Q} {MSV3dQ9P202:p.Arg431Gln} PubMed: Yang et al., 2013 - - Germline - 0/400 controls - - - Anne-Françoise Roux
-/- 5 6 c.1318G>A r.(?) p.(Ala440Thr) - benign g.117186712C>T g.114424432C>T - - DFNB31_000014 heterozygous, {USMAWHRN:A440T} {MSV3dQ9P202:p.Ala440Thr}, 1 more item PubMed: Aller et al., 2010, PubMed: Rong et al., 2014 - rs4978584 Germline - 0.226 (patients) +MslI;+MwoI;+BglI; - - Anne-Françoise Roux
-?/-? 1 6 c.1339G>A r.(?) p.(Asp447Asn) ACMG likely benign g.117186691C>T g.114424411C>T Asp447His - DFNB31_000029 heterozygous, {USMAWHRN:D447N} {MSV3dQ9P202:p.Asp447Asn} PubMed: Aller et al., 2010 - - Germline - 0.003 (patients) -BssKI;-StyD4I;-BstNI;-BtsCI;-PspGI;-FokI; - - Anne-Françoise Roux
?/. 1 - c.1348C>T r.(?) p.(Arg450Cys) - VUS g.117186682G>A g.114424402G>A WHRN(NM_015404.3):c.1348C>T (p.R450C) - DFNB31_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/-, -/. 11 6 c.1353T>C r.(?) p.(=), p.(Gly451=) - benign g.117186677A>G g.114424397A>G WHRN(NM_015404.4):c.1353T>C (p.G451=) - DFNB31_000002 Heterozygous, homozygous, VKGL data sharing initiative Nederland PubMed: Aller et al., 2010, PubMed: Besnard et al., 2011, PubMed: Rong et al., 2014, 1 more item - rs4979387 CLASSIFICATION record, Germline - 0.674 (patients) +AciI - - David Baux, VKGL-NL_Groningen, Anne-Françoise Roux
-/-?, -/., -?/. 3 6 c.1365T>C r.(?) p.(=), p.(Ser455=) ACMG benign, likely benign g.117186665A>G g.114424385A>G WHRN(NM_015404.3):c.1365T>C (p.S455=) - DFNB31_000069 Heterozygous, VKGL data sharing initiative Nederland PubMed: Le Quesne Stabej et al., 2012 - rs111033459 CLASSIFICATION record, Germline - - +BsaJI;+BtgI; - - VKGL-NL_Rotterdam, VKGL-NL_AMC, Maria Bitner-Glindzicz
-/- 3 6i c.1416+22A>T r.(?) p.(=) - benign g.117186592T>A g.114424312T>A - - DFNB31_000015 Heterozygous, homozygous PubMed: Aller et al., 2010 - rs4979386 Germline - 0.197 (patients) none - - Anne-Françoise Roux
-/-? 2 6i c.1416+61del r.(?) p.(=) ACMG likely benign g.117186553del g.114424273del 1416+61delG - DFNB31_000066 homozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - - +MnlI - - Maria Bitner-Glindzicz
-?/-? 1 6i c.1416+66del r.(=) p.(=) ACMG likely benign g.117186552del g.114424272del 1416+62delC - DFNB31_000039 Heterozygous PubMed: Aller et al., 2010 - - Germline - 0.003 (patients) none - - Anne-Françoise Roux
-/-? 1 6i c.1416+67dup r.(?) p.(=) ACMG likely benign g.117186547dup g.114424267dup - - DFNB31_000056 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - - +BssKI;+NlaIV;+StyD4I;-FauI;-BsrBI;-AciI; - - Maria Bitner-Glindzicz
-/- 2 6i c.1416+151A>G r.(?) p.(=) - benign g.117186463T>C g.114424183T>C - - DFNB31_000038 Heterozygous, homozygous PubMed: Aller et al., 2010 - rs4979385 Germline - 0.049 (patients) +TspMI;+XmaI;+MspI;+HpaII;-PspGI;-BstNI; - - Anne-Françoise Roux
-/-? 1 6i c.1417-185A>G r.(?) p.(=) ACMG likely benign g.117185988T>C g.114423708T>C - - DFNB31_000065 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - - +MnlI;+HphI; - - Maria Bitner-Glindzicz
-/-? 1 6i c.1417-72G>A r.(?) p.(=) ACMG likely benign g.117185875C>T g.114423595C>T - - DFNB31_000058 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - - +MnlI;-BstXI; - - Maria Bitner-Glindzicz
+/. 1 - c.1417-1G>A r.spl? p.? - pathogenic g.117185804C>T g.114423524C>T - - DFNB31_000150 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs779760634 Germline - 3/2795 individuals - - - Mohammed Faruq
-/., -?/. 3 - c.1454C>T r.(?) p.(Pro485Leu) - benign, likely benign g.117185766G>A g.114423486G>A DFNB31(NM_015404.3):c.1454C>T (p.P485L) - DFNB31_000137 11 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs79572315 CLASSIFICATION record, Germline - 11/2795 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, Mohammed Faruq
-?/-?, -?/. 2 7 c.1455G>A r.(?) p.(=), p.(Pro485=) ACMG likely benign g.117185765C>T g.114423485C>T WHRN(NM_015404.3):c.1455G>A (p.P485=) - DFNB31_000019 Heterozygous, VKGL data sharing initiative Nederland PubMed: Aller et al., 2010 - - CLASSIFICATION record, Germline - 0.01 (patients) -FauI;-AciI; - - VKGL-NL_Rotterdam, Anne-Françoise Roux
-?/-? 1 7 c.1486C>T r.(?) p.(=) ACMG likely benign g.117185734G>A g.114423454G>A - - DFNB31_000020 Heterozygous PubMed: Aller et al., 2010 - - Germline - 0.003 (patients) -DdeI;-BbvCI;-Bpu10I;-BspCNI; - - Anne-Françoise Roux
?/. 1 - c.1492C>T r.(?) p.(Arg498Cys) - VUS g.117185728G>A g.114423448G>A DFNB31(NM_015404.3):c.1492C>T (p.R498C) - DFNB31_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1493G>A r.(?) p.(Arg498His) - VUS g.117185727C>T g.114423447C>T DFNB31(NM_015404.3):c.1493G>A (p.R498H) - DFNB31_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/- 1 7 c.1515G>A r.(?) p.(=) - benign g.117185705C>T g.114423425C>T - - DFNB31_000021 Heterozygous PubMed: Aller et al., 2010 - rs34252199 Germline - 0.026 +BceAI;-BstUI;-HinP1I;-HhaI;-AciI; - - Anne-Françoise Roux
-?/. 1 - c.1608C>G r.(?) p.(Thr536=) - likely benign g.117185612G>C g.114423332G>C WHRN(NM_015404.3):c.1608C>G (p.T536=) - DFNB31_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1611C>T r.(?) p.(Thr537=) - likely benign g.117185609G>A g.114423329G>A WHRN(NM_015404.3):c.1611C>T (p.T537=) - DFNB31_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 4 7i c.1627-12G>A r.(?) p.(=) - benign g.117170310C>T g.114408030C>T - - DFNB31_000016 Heterozygous, homozygous PubMed: Aller et al., 2010, PubMed: Besnard et al., 2011 - rs2274160 Germline - 0.174 (patients) +BtsCI;+FokI; - - Anne-Françoise Roux
+?/-?, -?/., ?/. 3 7i c.1627-5T>A r.(?), r.spl, r.spl? p.(=), p.? ACMG likely benign, VUS g.117170303A>T g.114408023A>T DFNB31(NM_015404.3):c.1627-5T>A - DFNB31_000075 Heterozygous, VKGL data sharing initiative Nederland PubMed: Ellingford 2016, PubMed: Glöcke et al., 2013 - rs187221008 CLASSIFICATION record, Germline - - -XbaI - - VKGL-NL_Rotterdam, Anne-Françoise Roux
-/- 1 6 c.1653C>T r.(?) p.(=) ACMG likely benign g.117170272G>A g.114407992G>A - - DFNB31_000070 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - rs4979387 Germline - - +HphI - - Maria Bitner-Glindzicz
-?/. 1 - c.1678G>A r.(?) p.(Ala560Thr) - likely benign g.117170247C>T g.114407967C>T DFNB31(NM_015404.3):c.1678G>A (p.A560T) - DFNB31_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1683C>T r.(?) p.(Leu561=) - likely benign g.117170242G>A g.114407962G>A WHRN(NM_015404.3):c.1683C>T (p.L561=) - DFNB31_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/- 2 8 c.1684C>G r.(?) p.(Pro562Ala) - benign g.117170241G>C g.114407961G>C - - DFNB31_000030 heterozygous, {USMAWHRN:P562A} {MSV3dQ9P202:p.Pro562Ala}, 1 more item PubMed: Aller et al., 2010 - rs12339210 Germline - 0.1 (patients) none - - Anne-Françoise Roux
?/. 1 - c.1699-7A>G r.spl p.? - VUS g.117169179A>C g.114406899A>C - - DFNB31_000162 variant found in controls PubMed: Liu 2015 - - Germline no - - - - LOVD
-?/. 1 - c.1716C>T r.(?) p.(Thr572=) - likely benign g.117169155G>A g.114406875G>A WHRN(NM_015404.3):c.1716C>T (p.T572=) - DFNB31_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1808G>T r.(?) p.(Gly603Val) - VUS g.117169063C>A g.114406783C>A - - DFNB31_000160 - PubMed: Ellingford 2016 - - Germline - - - - - LOVD
-/-, -/. 10 9 c.1838T>C r.(?) p.(Met613Thr) - benign g.117169033A>G g.114406753A>G WHRN(NM_015404.4):c.1838T>C (p.M613T) - DFNB31_000003, DFNB31_000113 heterozygous, {USMAWHRN:M613T} {MSV3dQ9P202:p.Met613Thr}, VKGL data sharing initiative Nederland, 1 more item PubMed: Aller et al., 2010, PubMed: Rong et al., 2014, PubMed: Tlili et al., 2005 - rs942519 CLASSIFICATION record, Germline - 0.459 (patients) -FatI;-NlaIII;-CviAII; - - David Baux, VKGL-NL_Groningen, Anne-Françoise Roux
+?/., ?/. 3 - c.1850C>T r.(?) p.(Ser617Leu) ACMG likely pathogenic, VUS g.117169021G>A g.114406741G>A DFNB31(NM_015404.3):c.1850C>T (p.S617L), WHRN c.1850C>T, p.(Ser617Leu) - DFNB31_000112 single heterozygous variant (recessive), VKGL data sharing initiative Nederland PubMed: Jespersgaar 2019 - - CLASSIFICATION record, Germline ? - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/-? 1 9 c.1884C>A r.(?) p.(Ser628Arg) ACMG likely benign g.117168987G>T g.114406707G>T - - DFNB31_000031 heterozygous, {USMAWHRN:S628R} {MSV3dQ9P202:p.Ser628Arg} PubMed: Aller et al., 2010 - - Germline - 0.003 (patients) -BbvI;-CviKI_1;-Fnu4HI;-FauI;-ApeKI;-TseI; - - Anne-Françoise Roux
-/- 2 9 c.1887G>A r.(?) p.(=) - benign g.117168984C>T g.114406704C>T 1886G>A - DFNB31_000022 Heterozygous, homozygous PubMed: Aller et al., 2010 - - Germline - 0.046 (patients) -FauI;-AciI;-Cac8I; - - Anne-Françoise Roux
-?/. 1 - c.1900G>A r.(?) p.(Ala634Thr) - likely benign g.117168971C>T g.114406691C>T WHRN(NM_015404.3):c.1900G>A (p.A634T) - DFNB31_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., -?/-?, -?/., ?/. 4 8, 9 c.1943C>A r.(?) p.(Ser648Tyr) ACMG likely benign, pathogenic, VUS g.117168928G>T g.114406648G>T c.1943C>A, DFNB31(NM_015404.3):c.1943C>A (p.S648Y), WHRN(NM_015404.3):c.1943C>A (p.S648Y) - DFNB31_000032 heterozygous, {USMAWHRN:S648Y} {MSV3dQ9P202:p.Ser648Tyr}, VKGL data sharing initiative Nederland PubMed: Aller et al., 2010, PubMed: _Audo-2012 - - CLASSIFICATION record, Germline, Unknown - 0.003 (patients) -EarI;-MboII; - - VKGL-NL_Rotterdam, VKGL-NL_AMC, Anne-Françoise Roux
?/. 1 - c.1988G>A r.(?) p.(Arg663Lys) - VUS g.117168883C>T g.114406603C>T WHRN(NM_015404.3):c.1988G>A (p.R663K) - DFNB31_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2027C>G r.(?) p.(Pro676Arg) - VUS g.117168844G>C g.114406564G>C DFNB31(NM_015404.3):c.2027C>G (p.P676R) - DFNB31_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2046G>C r.(?) p.(Arg682=) - benign g.117168825C>G g.114406545C>G WHRN(NM_015404.3):c.2046G>C (p.R682=) - DFNB31_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2060C>T r.(?) p.(Pro687Leu) - VUS g.117168811G>A - WHRN(NM_015404.3):c.2060C>T (p.P687L) - DFNB31_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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