All 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.

250 entries on 3 pages. Showing entries 1 - 100.
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Effect     

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     
-/- 1 c.-91C>T r.(=) p.(=) - benign g.117267172G>A g.114504892G>A - - DFNB31_000071 Heterozygous - - rs2297814 Germline - - - 0 - Anne-Françoise Roux
-/- 1 c.-91C>T r.(=) p.(=) - benign g.117267172G>A g.114504892G>A - - DFNB31_000071 homozygous PubMed: Besnard et al., 2011 - rs2297814 Germline - - - 0 - Anne-Françoise Roux
?/. - c.1A>G r.(?) p.Met1_Pro92del - VUS g.117267081T>C g.114504801T>C - - DFNB31_000101 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - 0 - Manou Sommen
-?/. - 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 - - - 0 - VKGL-NL_AMC
-?/. - c.33C>G r.(?) p.(Ser11Arg) - likely benign g.117267049G>C g.114504769G>C DFNB31(NM_015404.3):c.33C>G (p.S11R) - DFNB31_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/-? 1 c.33C>G r.(?) p.(Ser11Arg) ACMG likely benign g.117267049G>C g.114504769G>C - - DFNB31_000045 heterozygous, {USMAWHRN:S11R} {MSV3dQ9P202:p.Ser11Arg} PubMed: Bonnet et al., 2011 - rs45527543 Germline - 0/494 controls +MnlI;-BanII;-AluI;-CviKI_1;-SacI;-BsiHKAI; 0 - Anne-Françoise Roux
?/. - 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
?/. - 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
-/- 1 c.117G>A r.(?) p.(=) ACMG likely benign g.117266965C>T g.114504685C>T - - DFNB31_000009 Heterozygous PubMed: Jaijo et al., 2010 - rs2297815 Germline - - +CviQI;+RsaI;+BsiWI;-HinP1I;-HhaI; 0 - Jose Maria Millan
-/- 1 c.117G>A r.(?) p.(=) - benign g.117266965C>T g.114504685C>T - - DFNB31_000009 Heterozygous - - rs2297815 Germline - - +CviQI;+RsaI;+BsiWI;-HinP1I;-HhaI; 0 - Anne-Françoise Roux
-/- 1 c.117G>A r.(?) p.(=) - benign g.117266965C>T g.114504685C>T - - DFNB31_000009 homozygous PubMed: Aller et al., 2010 - rs2297815 Germline - 0.383 (patients) +CviQI;+RsaI;+BsiWI;-HinP1I;-HhaI; 0 - Anne-Françoise Roux
-/- 1 c.117G>A r.(?) p.(=) - benign g.117266965C>T g.114504685C>T - - DFNB31_000009 Heterozygous PubMed: Aller et al., 2010 - rs2297815 Germline - 0.383 (patients) +CviQI;+RsaI;+BsiWI;-HinP1I;-HhaI; 0 - Anne-Françoise Roux
-/- 1 c.117G>A r.(?) p.(=) - benign g.117266965C>T g.114504685C>T - - DFNB31_000009 homozygous PubMed: Besnard et al., 2011 - rs2297815 Germline - - +CviQI;+RsaI;+BsiWI;-HinP1I;-HhaI; 0 - Anne-Françoise Roux
-/- 1 c.117G>A r.(?) p.(=) - benign g.117266965C>T g.114504685C>T - - DFNB31_000009 Heterozygous PubMed: Rong et al., 2014 - rs2297815 Germline - - +CviQI;+RsaI;+BsiWI;-HinP1I;-HhaI; 0 - Anne-Françoise Roux
+/. 1 c.160C>T r.? p.? - pathogenic g.117266922G>A - c.160C>T - DFNB31_000163 - PubMed: Nishiguchi-2013 - - Germline - - - 0 - LOVD
?/. - 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
-?/. - c.229A>T r.(?) p.(Thr77Ser) - likely benign g.117266853T>A g.114504573T>A DFNB31(NM_015404.3):c.229A>T (p.T77S) - DFNB31_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/-? 1 c.229A>T r.(?) p.(Thr77Ser) ACMG likely benign g.117266853T>A g.114504573T>A - - DFNB31_000025 heterozygous, {USMAWHRN:T77S} {MSV3dQ9P202:p.Thr77Ser} PubMed: Aller et al., 2010 - rs56204273 Germline - 0.003 (patients) -FspI 0 - Anne-Françoise Roux
+/+ 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; 0 - David Baux
+/+ 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; 0 - David Baux
?/. - 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 - - - 0 - VKGL-NL_AMC
?/. - 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
?/. - 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 c.(355del) r.(?) p.(Thr119Profs*23) - pathogenic g.(117266727)del - - - DFNB31_000000 - Baradaran-Heravi ASHG2018 P2366 - - Germline - - - 0 - Johan den Dunnen
?/. - c.376_378del r.(?) p.(Ala126del) - VUS g.117266706_117266708del - WHRN(NM_015404.3):c.376_378delGCC (p.A126del) - DFNB31_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.376_378del r.(?) p.(Ala126del) - VUS g.117266706_117266708del g.114504426_114504428del - - DFNB31_000158 no genotypes reported PubMed: Sergouniotis 2016 - rs777938907 Germline - 1/486 individuals - 0 - LOVD
-?/. - 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
-/-? 1 c.409G>C r.(?) p.(Glu137Gln) ACMG likely benign g.117266673C>G g.114504393C>G - - DFNB31_000064 heterozygous, {USMAWHRN:E137Q} {MSV3dQ9P202:p.Glu137Gln} PubMed: Le Quesne Stabej et al., 2012 - rs41297175 Germline - 0/134 controls +BspMI;+BfuAI;- 0 - Maria Bitner-Glindzicz
?/. - c.409G>C r.(?) p.(Glu137Gln) - VUS g.117266673C>G g.114504393C>G WHRN(NM_015404.3):c.409G>C (p.E137Q) - DFNB31_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/-? 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 0 - Maria Bitner-Glindzicz
-/-? 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; 0 - Maria Bitner-Glindzicz
-/- 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; 0 - Maria Bitner-Glindzicz
-/- 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; 0 - Maria Bitner-Glindzicz
-/-? 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 0 - Maria Bitner-Glindzicz
-/-? 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; 0 - Maria Bitner-Glindzicz
-?/-? 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; 0 - Anne-Françoise Roux
-?/. - 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
-?/. - 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
-/. - 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
-/. - c.668G>A r.(?) p.(Arg223His) - benign g.117241002C>T g.114478722C>T DFNB31(NM_001083885.2):c.-482G>A (p.(=)), DFNB31(NM_015404.3):c.668G>A (p.R223H), WHRN(NM_015404.3):c.668G>A (p.R223H) - DFNB31_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.668G>A r.(?) p.(Arg223His) - VUS g.117241002C>T g.114478722C>T DFNB31(NM_001083885.2):c.-482G>A (p.(=)), DFNB31(NM_015404.3):c.668G>A (p.R223H), WHRN(NM_015404.3):c.668G>A (p.R223H) - DFNB31_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.668G>A r.(?) p.(Arg223His) - benign g.117241002C>T g.114478722C>T DFNB31(NM_001083885.2):c.-482G>A (p.(=)), DFNB31(NM_015404.3):c.668G>A (p.R223H), WHRN(NM_015404.3):c.668G>A (p.R223H) - DFNB31_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.668G>A r.(?) p.(Arg223His) - VUS g.117241002C>T g.114478722C>T - - DFNB31_000126 conflicting interpretations of pathogenicity; 199 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146273185 Germline - 199/2795 individuals - 0 - Mohammed Faruq
?/. - c.668G>A r.(?) p.(Arg223His) - VUS g.117241002C>T g.114478722C>T - - DFNB31_000126 conflicting interpretations of pathogenicity; 9 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146273185 Germline - 9/2795 individuals - 0 - Mohammed Faruq
?/. - c.668G>A r.(?) p.(Arg223His) - VUS g.117241002C>T g.114478722C>T - - DFNB31_000126 37/1266 control chromosomes PubMed: Xu 2015 - rs146273185 Germline - 4/314 case chromosomes - 0 - LOVD
+/+ 2 c.680dup r.(?) p.(Tyr228Leufs*37) - pathogenic g.117240994dup g.114478714dup - - DFNB31_000011 Heterozygous PubMed: Besnard et al., 2011 - - Germline - - none 0 - Anne-Françoise Roux
-?/. - 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
?/. - 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 - - - 0 - VKGL-NL_AMC
+/+ 2 c.737del r.(?) p.(Pro246Hisfs*13) - pathogenic g.117240936del g.114478656del 737delC - DFNB31_000012 Heterozygous PubMed: Besnard et al., 2011 - - Germline - - none 0 - Anne-Françoise Roux
+/+ 2 c.737del r.(?) p.(Pro246Hisfs*13) - pathogenic g.117240936del g.114478656del 737delC - DFNB31_000012 homozygous PubMed: Bonnet et al., 2011 - - Germline - - none 0 - Anne-Françoise Roux
+/+ 2 c.737del r.(?) p.(Pro246Hisfs*13) - pathogenic g.117240936del g.114478656del 737delC - DFNB31_000012 homozygous PubMed: Audo et al., 2011 - - Germline - - none 0 - Anne-Françoise Roux
+/+ 2 c.737del r.(?) p.(Pro246Hisfs*13) - pathogenic g.117240936del g.114478656del 737delC - DFNB31_000012 homozygous PubMed: Audo et al., 2011 - - Germline - - none 0 - Anne-Françoise Roux
+/+ 2 c.737del r.(?) p.(Pro246Hisfs*13) - pathogenic g.117240936del g.114478656del 737delC - DFNB31_000012 homozygous PubMed: Audo et al., 2011 - - Germline - - none 0 - Anne-Françoise Roux
+/+ 2 c.737del r.(?) p.(Pro246Hisfs*13) - pathogenic g.117240936del g.114478656del 737delC - DFNB31_000012 homozygous PubMed: Besnard et al., 2011 - - Germline - - none 0 - Anne-Françoise Roux
-/-? 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; 0 - Maria Bitner-Glindzicz
-/-? 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; 0 - Maria Bitner-Glindzicz
-/. - 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 - - - 0 - VKGL-NL_AMC
-/. - 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
+/+ 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 2 PubMed: Ebermann et al., 2007 - - Germline - 0/100 controls -HphI 0 - David Baux
+/+ 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 PubMed: Ebermann et al., 2007 - - Germline - 0/100 controls -HphI 0 - David Baux
-?/-? 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 0 - Anne-Françoise Roux
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - 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
-?/. - 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
-?/. - 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_AMC
+?/? 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 - - - 0 - Anne-Françoise Roux
+/+ 3i c.963+1G>A r.spl p.? - pathogenic g.117228546C>T g.114466266C>T - - DFNB31_000081 homozygous PubMed: Jiang et al., 2015 - - Germline - - - 0 - Anne-Françoise Roux
-?/. - 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
-/- 3i c.964-21A>G r.(?) p.(=) - benign g.117188714T>C g.114426434T>C - - DFNB31_000013 Heterozygous - - rs2274163 Germline - - none 0 - Anne-Françoise Roux
-/- 3i c.964-21A>G r.(?) p.(=) - benign g.117188714T>C g.114426434T>C - - DFNB31_000013 homozygous PubMed: Aller et al., 2010 - rs2274163 Germline - 0.292 (patients) none 0 - Anne-Françoise Roux
-/- 3i c.964-21A>G r.(?) p.(=) - benign g.117188714T>C g.114426434T>C - - DFNB31_000013 Heterozygous PubMed: Aller et al., 2010 - rs2274163 Germline - 0.292 (patients) none 0 - Anne-Françoise Roux
?/. - 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
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/-? 4 c.1048C>T r.(?) p.(Arg350Trp) ACMG likely benign g.117188609G>A g.114426329G>A - - DFNB31_000026 heterozygous, {USMAWHRN:R350W} {MSV3dQ9P202:p.Arg350Trp} PubMed: Aller et al., 2010 - - Germline - 0.003 (patients) -NmeAIII 0 - Anne-Françoise Roux
?/. - c.1048C>T r.(?) p.(Arg350Trp) - VUS g.117188609G>A g.114426329G>A - - DFNB31_000026 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142990800 Germline - 1/2794 individuals - 0 - Mohammed Faruq
?/. - 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
-/. - 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 - - - 0 - VKGL-NL_Groningen
-/- 4 c.1091A>G r.(?) p.(His364Arg) - benign g.117188566T>C - - - DFNB31_000072 homozygous, {USMAWHRN:H364R} {MSV3dQ9P202:p.His364Arg} Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Besnard et al., 2011 - rs10817610 Germline - - +BaeGI;+Bsp1286I;-FatI;-NlaIII;-CviAII; 0 - Anne-Françoise Roux
-?/. - 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
+?/-? 4 c.1135C>T r.(?) p.(Arg379Trp) ACMG likely benign g.117188522G>A g.114426242G>A - - DFNB31_000046 heterozygous, {USMAWHRN:R379W} {MSV3dQ9P202:p.Arg379Trp} PubMed: Bonnet et al., 2011 - rs56059137 Germline - 0/306 controls +PspGI;+BstNI;+PflMI;-MspI;-HpaII;-NciI; 0 - Anne-Françoise Roux
+?/-? 4 c.1135C>T r.(?) p.(Arg379Trp) ACMG likely benign g.117188522G>A g.114426242G>A - - DFNB31_000046 heterozygous, {USMAWHRN:R379W} {MSV3dQ9P202:p.Arg379Trp} PubMed: Bujakowska et al., 2014 - rs56059137 Germline - - +PspGI;+BstNI;+PflMI;-MspI;-HpaII;-NciI; 0 - Anne-Françoise Roux
?/. - c.1135C>T r.(?) p.(Arg379Trp) - VUS g.117188522G>A g.114426242G>A WHRN(NM_015404.3):c.1135C>T (p.R379W) - DFNB31_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1135C>T r.(?) p.(Arg379Trp) - likely benign g.117188522G>A g.114426242G>A - - DFNB31_000046 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56059137 Germline - 5/2795 individuals - 0 - Mohammed Faruq
?/. - c.1135C>T r.(?) p.(Arg379Trp) - VUS g.117188522G>A - WHRN(NM_015404.3):c.1135C>T (p.R379W) - DFNB31_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 4 c.1148C>A r.(?) p.(Thr383Asn) ACMG likely benign g.117188509G>T g.114426229G>T - - DFNB31_000027 heterozygous, {USMAWHRN:T383N} {MSV3dQ9P202:p.Thr383Asn} PubMed: Aller et al., 2010 - - Germline - 0.005 (patients) -BsmAI;-BsaI;-NcoI;-StyI;-BsaJI;-BtgI; 0 - Anne-Françoise Roux
-?/-? 4 c.1148C>A r.(?) p.(Thr383Asn) ACMG likely benign g.117188509G>T g.114426229G>T - - DFNB31_000027 heterozygous, {USMAWHRN:T383N} {MSV3dQ9P202:p.Thr383Asn} PubMed: Le Quesne Stabej et al., 2012 - - Germline - - -BsmAI;-BsaI;-NcoI;-StyI;-BsaJI;-BtgI; 0 - Maria Bitner-Glindzicz
?/. - c.1148C>A r.(?) p.(Thr383Asn) - VUS g.117188509G>T g.114426229G>T DFNB31(NM_015404.3):c.1148C>A (p.T383N), WHRN(NM_001173425.2):c.1148C>A (p.T383N), WHRN(NM_015404.3):c.1148C>A (p.T383N) - DFNB31_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1148C>A r.(?) p.(Thr383Asn) - VUS g.117188509G>T - DFNB31(NM_015404.3):c.1148C>A (p.T383N), WHRN(NM_001173425.2):c.1148C>A (p.T383N), WHRN(NM_015404.3):c.1148C>A (p.T383N) - DFNB31_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 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; 0 - Anne-Françoise Roux
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+?/-? 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; 0 - Anne-Françoise Roux
-/-? 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 0 - Maria Bitner-Glindzicz
-/-? 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 0 - Maria Bitner-Glindzicz
-?/-? 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 0 - Anne-Françoise Roux
-/-? 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; 0 - Maria Bitner-Glindzicz
-?/-? 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 - - - 0 - Anne-Françoise Roux
+/+ 6 c.1267C>T r.(?) p.(Arg423*) - pathogenic g.117186763G>A g.114424483G>A - - DFNB31_000078 Heterozygous PubMed: Ben-Salem et al., 2014 - - Germline - - - 0 - Anne-Françoise Roux
+/. - c.1267C>T r.(?) p.(Arg423*) - pathogenic g.117186763G>A g.114424483G>A - - DFNB31_000078 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397517255 Germline - 1/2793 individuals - 0 - Mohammed Faruq
+?/? 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 - 0 - Anne-Françoise Roux
-/- 6 c.1318G>A r.(?) p.(Ala440Thr) - benign g.117186712C>T g.114424432C>T - - DFNB31_000014 heterozygous, {USMAWHRN:A440T} {MSV3dQ9P202:p.Ala440Thr} - - rs4978584 Germline - - +MslI;+MwoI;+BglI; 0 - Anne-Françoise Roux
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