Full data view for gene MYO7A


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_000260.3 transcript reference sequence.

4846 entries on 49 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

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VIP     

Methylation     

Template     

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Disease     

ID_report     

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Panel size     

Owner     
-/. - c.-4860G>T r.(?) p.(=) - Unknown - benign g.76834722G>T g.77123676G>T CAPN5(NM_004055.5):c.1741-12G>T - CAPN5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4801C>A r.(?) p.(=) - Unknown - VUS g.76834781C>A g.77123735C>A CAPN5(NM_004055.4):c.1788C>A (p.H596Q) - CAPN5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4771C>T r.(?) p.(=) - Unknown - likely benign g.76834811C>T - CAPN5(NM_004055.4):c.1818C>T (p.A606=) - CAPN5_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4752C>T r.(?) p.(=) - Unknown - likely benign g.76834830C>T - CAPN5(NM_004055.5):c.1837C>T (p.R613W) - CAPN5_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4745G>A r.(?) p.(=) - Unknown - likely benign g.76834837G>A g.77123791G>A CAPN5(NM_004055.5):c.1844G>A (p.R615Q) - CAPN5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4723C>T r.(?) p.(=) - Unknown - benign g.76834859C>T g.77123813C>T CAPN5(NM_004055.5):c.1866C>T (p.N622=) - CAPN5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4702G>A r.(?) p.(=) - Unknown - likely benign g.76834880G>A g.77123834G>A CAPN5(NM_004055.4):c.1887G>A (p.V629=) - CAPN5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4695C>A r.(?) p.(=) - Unknown - benign g.76834887C>A g.77123841C>A CAPN5(NM_004055.4):c.1894C>A (p.L632I), CAPN5(NM_004055.5):c.1894C>A (p.L632I) - CAPN5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4695C>A r.(?) p.(=) - Unknown - likely benign g.76834887C>A g.77123841C>A CAPN5(NM_004055.4):c.1894C>A (p.L632I), CAPN5(NM_004055.5):c.1894C>A (p.L632I) - CAPN5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4684C>T r.(?) p.(=) - Unknown - likely benign g.76834898C>T g.77123852C>T CAPN5(NM_004055.4):c.1905C>T (p.T635=) - CAPN5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4677A>G r.(?) p.(=) - Unknown - likely benign g.76834905A>G - CAPN5(NM_004055.4):c.1912A>G (p.M638V) - CAPN5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/? _1 c.-4128C>T r.(?) p.(?) 5'gene Paternal (confirmed) ACMG likely benign g.76835454C>T g.77124408C>T - - MYO7A_000357 Heterozygous; modifier: binds YY1 which reduces expression of MYO7A. Described in trans of a DFNA11 allele, increases the severity of the phenotype. PubMed: Street 2004 - rs10899353 Germline - - +BccI;-BsmBI;-BceAI;-BsmAI; - - DNA SEQ - - DFNA1 ? PubMed: Street 2004 Relative F - United States - - - - - 1 Anne-Françoise Roux
-/? _1 c.-2323C>T r.(=) p.(=) 5'UTR Unknown ACMG likely benign g.76837259C>T g.77126213C>T -272-2051C>T - MYO7A_000411 Heterozygous PubMed: Le Quesne Stabej 2012 - - Germline - 0/96 controls +BfaI;+AvrII;+StyI;-PspGI;-BssKI;-ScrFI; - - DNA SEQ - - USH2 ? PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/? _1 c.-2258C>G r.(=) p.(=) 5'UTR Unknown ACMG likely benign g.76837324C>G g.77126278C>G c.-272-1986C>G - MYO7A_000422 Heterozygous PubMed: Le Quesne Stabej 2012 - - Germline - 0/96 controls +MnlI;+HphI;-DdeI;-BspCNI;-AluI;-CviKI_1; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ _1_37i c.-272-?_5168+213del r.0? p.0? Motor domain (1-729);IQ 1 (745-765);IQ 2 (768-788);IQ 3 (791-811);IQ 4 (814-834);IQ 5 (837-857);Coiled coil (858-935);MyTH4 1 (1017-1253);FERM 1 (1258-1602);SH3 (1603-1672) Parent #2 - pathogenic g.76839310_76913682del - -272-?_5168+213del - MYO7A_000125 Heterozygous Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Roux 2011 - - Germline - - - - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - - - - - - - 1 Anne-Françoise Roux
+/. - c.(?_-272)_(5168+1_5169-1)del r.(?) p.(?) - Maternal (confirmed) ACMG pathogenic g.(?_77128264)_(77202425_77203059)del - - - MYO7A_001034 - PubMed: Mansard et al, 2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/+ 1i c.-46-2A>G r.(?) p.(?) - Unknown - pathogenic g.76841633A>G g.77130587A>G - - MYO7A_000468 Heterozygous PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls +AciI;-PstI;-HpyCH4V;-SfcI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-?/. - c.-11G>A r.(?) p.(=) - Unknown - likely benign g.76841670G>A - MYO7A(NM_000260.4):c.-11G>A - CAPN5_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.? r.? p.? - Parent #2 - likely pathogenic g.? - del ex21-27 - DRD4_000002 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel USH Pat63 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+?/. 25 c.? r.(?) p.? - Unknown - likely pathogenic g.76893478C>T - c.3118C>T (p.Arg1040Gly) - DRD4_000002 - PubMed: SkorczykWerner-2020 - - Germline - - - - - DNA arraySNP - - retinal disease - PubMed: SkorczykWerner 2020 - M - - Polish - - - - 1 LOVD
+?/. 3 c.? r.(?) p.? - Unknown - likely pathogenic g.? - p.Y1396* - DRD4_000002 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. - c.3G>A r.(?) p.0? - Parent #2 - likely pathogenic (recessive) g.76841683G>A g.77130637G>A - - MYO7A_000888 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP1567 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.3G>A r.? p.? - Parent #2 - pathogenic g.76841683G>A - c.3G>A - MYO7A_000888 - PubMed: Galbis-Martinez-2021 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Galbis-Martinez-2021 - - - - - - - - - 4 LOVD
+/+ 2 c.6_9dup r.(?) p.(Leu4Aspfs*39) - Unknown - pathogenic g.76841686_76841689dup g.77130640_77130643dup - - MYO7A_000164 Heterozygous PubMed: Jaijo 2006 - - Germline - - none - - DNA minigene, RT-PCR, SEQ - - USH1B ? PubMed: Jaijo 2006 Proband - Minigene and Nasal cell studies in Aparisi et al., 2013 M - Spain - - - - - 1 Jose Maria Millan
+/+ 2 c.6_9dup r.(?) p.(Leu4Aspfs*39) - Maternal (confirmed) - pathogenic g.76841686_76841689dup g.77130640_77130643dup - - MYO7A_000164 Heterozygous PubMed: Roux 2011 - - Germline - - none - - DNA SEQ - - USH1B ? PubMed: Besnard, Garcia-Garcia 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 2 c.6_9dup r.(?) p.(Leu4fsAsp*39) - Parent #2 - pathogenic g.76841686_76841689dup g.77130640_77130643dup - - MYO7A_000164 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband M - Spain - - - - - 1 Crystel Bonnet
+?/. - c.6_9dup r.(?) p.(Leu4Aspfs*39) - Unknown - likely pathogenic g.76841686_76841689dup g.77130640_77130643dup , c.6_9dup, p.Leu4AspfsTer39 - MYO7A_000164 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:3 PubMed: Ezquerra-Inchausti 2018 Family RP88, II:3 ? no Spain - - - - - 1 LOVD
+?/. - c.6_9dup r.(?) p.(Leu4Aspfs*39) - Unknown - likely pathogenic g.76841686_76841689dup g.77130640_77130643dup , c.6_9dup, p.Leu4AspfsTer39 - MYO7A_000164 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:5 PubMed: Ezquerra-Inchausti 2018 Family RP88, II:5 ? no Spain - - - - - 1 LOVD
+/. 2 c.6_9dup r.(?) p.(Leu4Aspfs*39) - Parent #2 - pathogenic g.76841686_76841689dup - c.6_9dup(UV4) - MYO7A_000164 - PubMed: Galbis-Martinez-2021 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Galbis-Martinez-2021 - - - - - - - - - 8 LOVD
+/. 1i c.18+2T>A r.spl p.? - Unknown - pathogenic g.76841700T>A g.77130654T>A - - MYO7A_000605 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
+?/. - c.18+2T>A r.spl p.(?) - Parent #1 - likely pathogenic g.76841700T>A g.77130654T>A MYO7A, variant 1: c.18+2T>A/p.?, variant 2: c.18+2T>A/p.? - MYO7A_000605 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 597 PubMed: Weisschuh 2020 Filing key number: 215, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
-?/. - c.19-7C>T r.(=) p.(=) - Unknown - likely benign g.76853748C>T g.77142702C>T MYO7A(NM_000260.3):c.19-7C>T, MYO7A(NM_000260.4):c.19-7C>T - MYO7A_000843 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19-7C>T r.(=) p.(=) - Unknown - likely benign g.76853748C>T - MYO7A(NM_000260.3):c.19-7C>T, MYO7A(NM_000260.4):c.19-7C>T - MYO7A_000843 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2i c.19-2A>G r.spl p.? - Parent #2 - pathogenic g.76853753A>G g.77142707A>G - - MYO7A_000214 Heterozygous PubMed: Jacobson 2009 - - Germline - - - - - DNA SEQ - - USH1B ? PubMed: Jacobson 2009 Proband F - - - - - - - 1 William J. Kimberling
+/. - c.19-1G>A r.spl? p.? - Unknown - pathogenic g.76853754G>A g.77142708G>A - - MYO7A_000535 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.19-1G>A r.spl p.? - Unknown - pathogenic g.76853754G>A g.77142708G>A - - MYO7A_000535 Heterozygous PubMed: Bharadwaj 2000 - rs111033426 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bharadwaj 2000 Proband - - Ireland - - - - - 1 Anne-Françoise Roux
+/. - c.19-1G>A r.spl p.? - Parent #1 ACMG pathogenic g.76853754G>A g.77142708G>A - - MYO7A_000535 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19810 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.19-1_19insG r.? p.? - Unknown - pathogenic (recessive) g.76853754_76853755insG - 11:76853753A>AG ENST00000409709.3:c.22dupG (Asp8GlyfsTer34) - MYO7A_000907 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G006299 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
?/. - c.19G>A r.(?) p.(Gly7Arg) - Unknown - VUS g.76853755G>A - MYO7A(NM_000260.3):c.19G>A (p.G7R) - MYO7A_000915 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.19G>A r.(?) p.(Gly7Arg) - Unknown - VUS g.76853755G>A - - - MYO7A_000915 - - - rs372509310 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.20G>T r.(?) p.(Gly7Val) - Paternal (confirmed) ACMG likely pathogenic (recessive) g.76853756G>T g.77142710G>T - - MYO7A_001106 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF019A PubMed: Richard 2019 2-generation family, 5 affected (3F, 2M) - yes Pakistan - - - - - 5 Johan den Dunnen
+?/. - c.22dup r.(?) p.(Asp8Glyfs*34) - Unknown - likely pathogenic g.76853758dup g.77142712dup MYO7A c.22dupG, p.Asp8GlyfsTer34 - MYO7A_001035 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G006299 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.22dup r.(?) p.(Asp8Glyfs*34) - Unknown - likely pathogenic g.76853758dup g.77142712dup MYO7A c.22dupG, p.Asp8Glyfs*34 - MYO7A_001035 - PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG blood retrospective study retinal disease P8 PubMed: Georgiou 2021 pedigree ID: 19131, genetic ID: 29686 M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 3 c.29T>C r.(?) p.(Val10Ala) - Maternal (confirmed) - pathogenic g.76853765T>C g.77142719T>C - - MYO7A_000498 not in 221 hearing controls PubMed: Brownstein 2014, Journal: Brownstein 2014 - - Germline yes 1/201 cases - - - DNA SEQ-NG-I blood - DFNB2 - PubMed: Brownstein 2014, Journal: Brownstein 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Israel Turkey;Jewish - - - - 1 Zippi Brownstein
+/+ 3 c.33G>A r.(?) p.(Trp11*) - Unknown - pathogenic g.76853769G>A g.77142723G>A - - MYO7A_000158 Heterozygous PubMed: Weston 1996 - - Germline - - - - - DNA SEQ - - USH1B ? PubMed: Weston 1996 Proband - - Sweden - - - - - 1 William J. Kimberling
?/. - c.37G>C r.(?) p.(Asp13His) - Unknown - VUS g.76853773G>C g.77142727G>C MYO7A(NM_000260.3):c.37G>C (p.D13H, p.(Asp13His)) - MYO7A_000771 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.37G>C r.(?) p.(Asp13His) - Unknown - VUS g.76853773G>C g.77142727G>C MYO7A(NM_000260.3):c.37G>C (p.D13H, p.(Asp13His)) - MYO7A_000771 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.37G>C r.(?) p.(Asp13His) - Unknown - VUS g.76853773G>C g.77142727G>C MYO7A(NM_000260.3):c.37G>C (p.D13H, p.(Asp13His)) - MYO7A_000771 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.47T>A r.(?) p.(Leu16*) - Parent #1 - pathogenic g.76853783T>A g.77142737T>A - - MYO7A_000258 Heterozygous PubMed: Janecke 1999, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - USH1B ? PubMed: Janecke 1999, PubMed: Dad 2016 Proband - - - - - - - - 1 Anne-Françoise Roux
-/. - c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C MYO7A(NM_000260.4):c.47T>C (p.L16S) - MYO7A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C MYO7A(NM_000260.4):c.47T>C (p.L16S) - MYO7A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Rong 2014 Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication. M - China - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous; Neutral PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous; Neutral PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Morocco - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Morocco - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Blanchet 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Blanchet 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Senegal - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Senegal - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Parent #1 - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - north Africa - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - north Africa - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Le Guédard-Méreuze 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, SEQ - - USH1B ? PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Gerber 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Gerber 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2006 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Cuevas 1999; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, RT-PCR, SEQ - - USH1B ? PubMed: Cuevas 1999 Proband - Minigene and Nasal cell studies in Aparisi et al., 2013 M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Cuevas 1999; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, RT-PCR, SEQ - - USH1B ? PubMed: Cuevas 1999 Proband - Minigene and Nasal cell studies in Aparisi et al., 2013 M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, RT-PCR, SEQ - - USH1B ? PubMed: Jaijo 2006 Proband - Minigene and Nasal cell studies in Aparisi et al., 2013 M - Spain - - - - - 1 Jose Maria Millan
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