All variants in the MYO7A gene


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.

4149 entries on 42 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     
+?/. - c.? r.? p.? - - likely pathogenic g.? - del ex21-27 - DRD4_000002 - PubMed: Neuhaus 2017 - - Germline yes - - 0 - LOVD
-/. - c.-4860G>T r.(?) p.(=) - - benign g.76834722G>T g.77123676G>T CAPN5(NM_004055.4):c.1741-12G>T - CAPN5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-4801C>A r.(?) p.(=) - - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.-4771C>T r.(?) p.(=) - - likely benign g.76834811C>T - CAPN5(NM_004055.4):c.1818C>T (p.A606=) - CAPN5_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-4745G>A r.(?) p.(=) - - likely benign g.76834837G>A g.77123791G>A CAPN5(NM_004055.4):c.1844G>A (p.R615Q) - CAPN5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-4723C>T r.(?) p.(=) - - benign g.76834859C>T g.77123813C>T CAPN5(NM_004055.4):c.1866C>T (p.N622=) - CAPN5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-4702G>A r.(?) p.(=) - - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - c.-4695C>A r.(?) p.(=) - - benign g.76834887C>A g.77123841C>A CAPN5(NM_004055.4):c.1894C>A (p.L632I) - CAPN5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.-4695C>A r.(?) p.(=) - - likely benign g.76834887C>A g.77123841C>A CAPN5(NM_004055.4):c.1894C>A (p.L632I) - CAPN5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-4684C>T r.(?) p.(=) - - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.-4677A>G r.(?) p.(=) - - likely benign g.76834905A>G - CAPN5(NM_004055.4):c.1912A>G (p.M638V) - CAPN5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/? _1 c.-4128C>T r.(?) p.(?) 5'gene 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; 0 - Anne-Françoise Roux
-/? _1 c.-2323C>T r.(=) p.(=) 5'UTR 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; 0 - Maria Bitner-Glindzicz
-/? _1 c.-2258C>G r.(=) p.(=) 5'UTR 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; 0 - 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) - 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 - - - 0 - Anne-Françoise Roux
+/+ 1i c.-46-2A>G r.(?) p.(?) - - pathogenic g.76841633A>G g.77130587A>G - - MYO7A_000468 Heterozygous PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls +AciI;-PstI;-HpyCH4V;-SfcI; 0 - Maria Bitner-Glindzicz
+?/. - c.3G>A r.(?) p.0? - - likely pathogenic (recessive) g.76841683G>A g.77130637G>A - - MYO7A_000888 - PubMed: Fuster-Garcia 2018 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/+ 2 c.6_9dup r.(?) p.(Leu4Aspfs*39) - - pathogenic g.76841686_76841689dup g.77130640_77130643dup - - MYO7A_000164 Heterozygous PubMed: Jaijo 2006 - - Germline - - none 0 - Jose Maria Millan
+/+ 2 c.6_9dup r.(?) p.(Leu4Aspfs*39) - - pathogenic g.76841686_76841689dup g.77130640_77130643dup - - MYO7A_000164 Heterozygous PubMed: Roux 2011 - - Germline - - none 0 - Anne-Françoise Roux
+/+ 2 c.6_9dup r.(?) p.(Leu4fsAsp*39) - - pathogenic g.76841686_76841689dup g.77130640_77130643dup - - MYO7A_000164 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - 0 - Crystel Bonnet
+?/. - c.6_9dup r.(?) p.(Leu4Aspfs*39) - - likely pathogenic g.76841686_76841689dup g.77130640_77130643dup , c.6_9dup, p.Leu4AspfsTer39 - MYO7A_000164 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - 0 - LOVD
+?/. - c.6_9dup r.(?) p.(Leu4Aspfs*39) - - likely pathogenic g.76841686_76841689dup g.77130640_77130643dup , c.6_9dup, p.Leu4AspfsTer39 - MYO7A_000164 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - 0 - LOVD
+/. 1i c.18+2T>A r.spl p.? - - pathogenic g.76841700T>A g.77130654T>A - - MYO7A_000605 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - 0 - Manou Sommen
-?/. - c.19-7C>T r.(=) p.(=) - - likely benign g.76853748C>T g.77142702C>T MYO7A(NM_000260.3):c.19-7C>T - MYO7A_000843 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2i c.19-2A>G r.spl p.? - - pathogenic g.76853753A>G g.77142707A>G - - MYO7A_000214 Heterozygous PubMed: Jacobson 2009 - - Germline - - - 0 - William J. Kimberling
+/. - c.19-1G>A r.spl? p.? - - pathogenic g.76853754G>A g.77142708G>A - - MYO7A_000535 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 1i c.19-1G>A r.spl p.? - - pathogenic g.76853754G>A g.77142708G>A - - MYO7A_000535 Heterozygous PubMed: Bharadwaj 2000 - rs111033426 Germline - - - 0 - Anne-Françoise Roux
+/. - c.19-1G>A r.spl p.? - ACMG pathogenic g.76853754G>A g.77142708G>A - - MYO7A_000535 - PubMed: Sun 2018 - - Germline - - - 0 - LOVD
+/. - c.19-1_19insG r.? p.? - - pathogenic (recessive) g.76853754_76853755insG - 11:76853753A>AG ENST00000409709.3:c.22dupG (Asp8GlyfsTer34) - MYO7A_000907 - PubMed: Carss 2017 - - Germline - - - 0 - LOVD
?/. - c.19G>A r.(?) p.(Gly7Arg) - - VUS g.76853755G>A - MYO7A(NM_000260.3):c.19G>A (p.G7R) - MYO7A_000915 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.19G>A r.(?) p.(Gly7Arg) - - VUS g.76853755G>A - - - MYO7A_000915 - - - rs372509310 Unknown - - - 0 - MobiDetails
+/. 3 c.29T>C r.(?) p.(Val10Ala) - - 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 - 0 - Zippi Brownstein
+/+ 3 c.33G>A r.(?) p.(Trp11*) - - pathogenic g.76853769G>A g.77142723G>A - - MYO7A_000158 Heterozygous PubMed: Weston 1996 - - Germline - - - 0 - William J. Kimberling
?/. - c.37G>C r.(?) p.(Asp13His) - - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.37G>C r.(?) p.(Asp13His) - - 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 - - - - - VKGL-NL_Leiden
+/+ 3 c.47T>A r.(?) p.(Leu16*) - - pathogenic g.76853783T>A g.77142737T>A - - MYO7A_000258 Heterozygous PubMed: Janecke 1999, PubMed: Dad 2016 - - Germline - - - 0 - Anne-Françoise Roux
-/. - c.47T>C r.(?) p.(Leu16Ser) - - 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 - - - 0 - VKGL-NL_Groningen
-/. - c.47T>C r.(?) p.(Leu16Ser) - - 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 - - - 0 - VKGL-NL_Nijmegen
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Maria Bitner-Glindzicz
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Maria Bitner-Glindzicz
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Maria Bitner-Glindzicz
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Cuevas 1998; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Cuevas 1998; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; 0 - Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - - 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; 0 - Jose Maria Millan
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »