Unique 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.

885 entries on 9 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
+?/. 1 - c.? r.? p.? - - likely pathogenic g.? - del ex21-27 - DRD4_000002 - PubMed: Neuhaus 2017 - - Germline yes - - - - LOVD
-/. 1 - 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
?/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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
-/. 1 - 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
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.-4695C>A r.(?) p.(=) - - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - 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
-?/. 1 - 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 _1 c.-4128C>T r.(?) p.(?) 5'gene ACMG likely benign g.76835454C>T g.77124408C>T - - MYO7A_000357 1 more item PubMed: Street 2004 - rs10899353 Germline - - +BccI;-BsmBI;-BceAI;-BsmAI; - - Anne-Françoise Roux
-/? 1 _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; - - Maria Bitner-Glindzicz
-/? 1 _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; - - Maria Bitner-Glindzicz
+/+ 1 _1_37i c.-272-?_5168+213del r.0? p.0? 1 more item - pathogenic g.76839310_76913682del - -272-?_5168+213del - MYO7A_000125 1 more item PubMed: Roux 2011 - - Germline - - - - - Anne-Françoise Roux
+/+ 1 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; - - Maria Bitner-Glindzicz
+?/. 1 - c.3G>A r.(?) p.0? - - likely pathogenic (recessive) g.76841683G>A g.77130637G>A - - MYO7A_000888 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - Global Variome, with Curator vacancy
+/+, +?/. 5 2 c.6_9dup r.(?) p.(Leu4Aspfs*39), p.(Leu4fsAsp*39) - - likely pathogenic, pathogenic g.76841686_76841689dup g.77130640_77130643dup , c.6_9dup, p.Leu4AspfsTer39 - MYO7A_000164 Heterozygous, Heterozygous; mutation PubMed: Bonnet 2016, PubMed: Ezquerra-Inchausti 2018, PubMed: Jaijo 2006, PubMed: Roux 2011 - - Germline yes - none - - Anne-Françoise Roux, Jose Maria Millan, Crystel Bonnet
+/. 1 1i c.18+2T>A r.spl p.? - - pathogenic g.76841700T>A g.77130654T>A - - MYO7A_000605 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - Manou Sommen
-?/. 1 - 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
+/+ 1 2i c.19-2A>G r.spl p.? - - pathogenic g.76853753A>G g.77142707A>G - - MYO7A_000214 Heterozygous PubMed: Jacobson 2009 - - Germline - - - - - William J. Kimberling
+/+, +/. 3 1i c.19-1G>A r.spl, r.spl? p.? - ACMG pathogenic g.76853754G>A g.77142708G>A - - MYO7A_000535 Heterozygous, VKGL data sharing initiative Nederland PubMed: Bharadwaj 2000, PubMed: Sun 2018 - rs111033426 CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Anne-Françoise Roux
+/. 1 - 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 - - - - - LOVD
?/. 2 - 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 - - rs372509310 CLASSIFICATION record, Unknown - - - - - VKGL-NL_Rotterdam, MobiDetails
+/. 1 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 - - - Zippi Brownstein
+/+ 1 3 c.33G>A r.(?) p.(Trp11*) - - pathogenic g.76853769G>A g.77142723G>A - - MYO7A_000158 Heterozygous PubMed: Weston 1996 - - Germline - - - - - William J. Kimberling
?/. 2 - 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, VKGL-NL_Rotterdam
+/+ 1 3 c.47T>A r.(?) p.(Leu16*) - - pathogenic g.76853783T>A g.77142737T>A - - MYO7A_000258 Heterozygous PubMed: Janecke 1999, PubMed: Dad 2016 - - Germline - - - - - Anne-Françoise Roux
-/-, -/. 93 3 c.47T>C r.(?) p.(Leu16Ser) - - benign g.76853783T>C g.77142737T>C MYO7A(NM_000260.4):c.47T>C (p.L16S) - MYO7A_000031 Heterozygous, Heterozygous; Neutral, Heterozygous; non causative, Homozygous, Homozygous; Neutral, 2 more items USMA-USMA missense analysis USMA-missense variant in MSV3d, 14 more items - rs1052030 CLASSIFICATION record, Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, Anne-Françoise Roux, Jose Maria Millan, Maria Bitner-Glindzicz
+/+, +/. 20 3 c.52C>T r.(?) p.(Gln18*), p.(Gln18Ter) - - pathogenic g.76853788C>T g.77142742C>T c.C52T; p.Q18* - MYO7A_000279 Heterozygous, Heterozygous; mutation, Homozygous, Homozygous; mutation PubMed: Bonnet 2016, PubMed: Ivanova 2018, PubMed: Yoshimura 2012, PubMed: Zhou 2012 - - Germline ? 0/380 controls - - - Anne-Françoise Roux, Crystel Bonnet
-/?, ?/. 2 3 c.54G>C r.(?) p.(Gln18His) - ACMG likely benign, VUS g.76853790G>C g.77142744G>C - - MYO7A_000469 Heterozygous; UV1 PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs371849195 Germline, Unknown - 1/852 controls +BssSI;+BaeGI;+Bsp1286I; - - Maria Bitner-Glindzicz, MobiDetails
-?/., ?/. 2 - c.61G>A r.(?) p.(Asp21Asn) - - likely benign, VUS g.76853797G>A g.77142751G>A (p.Asp21Asn), MYO7A(NM_000260.3):c.61G>A (p.(Asp21Asn)) - MYO7A_000684 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
-/. 1 - c.72C>T r.(?) p.(Ile24=) - - benign g.76853808C>T g.77142762C>T MYO7A(NM_000260.4):c.72C>T (p.I24=) - MYO7A_000787 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+, +/. 10 3 c.73G>A r.(?) p.(Gly25Arg ), p.(Gly25Arg) Motor domain (1-729) ACMG pathogenic, pathogenic (recessive) g.76853809G>A g.77142763G>A - - MYO7A_000134 Heterozygous, Heterozygous; mutation Bahena et al., 2021 (submitted), 5 more items - rs782252317 Germline, Unknown yes 0/100 controls, 0/438 controls, 0/878 controls none - - Barbara Vona, Anne-Françoise Roux, Maria Bitner-Glindzicz, Crystel Bonnet, MobiDetails
+/. 1 3 c.75_82del r.(?) p.(Ala26Glufs*13) - ACMG pathogenic g.76853811_76853818del - - - MYO7A_000953 - Bahena et al., 2021 (submitted) - - Germline yes - - - - Barbara Vona
+/+ 6 3 c.77C>A r.(?) p.(Ala26Glu) Motor domain (1-729) - pathogenic g.76853813C>A g.77142767C>A - - MYO7A_000168 Heterozygous, Heterozygous; mutation PubMed: Bharadwaj 2000; USMA-USMA missense analysis USMA-missense variant in MSV3d, 4 more items - - Germline - 0/172 controls, 1/874 controls +MnlI;-AciI; - - Anne-Françoise Roux, Jose Maria Millan, Maria Bitner-Glindzicz, Crystel Bonnet
?/. 1 - c.88C>A r.(?) p.(Leu30Ile) - - VUS g.76853824C>A g.77142778C>A - - MYO7A_000685 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/., +?/. 24 3 c.93C>A r.(?) p.(Cys31*), p.(Cys31Ter) - ACMG likely pathogenic, pathogenic, pathogenic (recessive) g.76853829C>A g.77142783C>A c.93C>A p.(Cys31*), c.5648G>A p.(Arg1883Gln), MYO7A c.93C>A, p.(Cys31*) - MYO7A_000012 Heterozygous, Heterozygous; mutation, Homozygous, single heterozygous variant (recessive), 1 more item Tranebjaerg 2011, PubMed: Dad 2016, PubMed: Cremers 2007, PubMed: Dad 2016, PubMed: Hagag 2020, 7 more items - rs35689081 CLASSIFICATION record, Germline, Germline/De novo (untested) ? 0/878 controls +Hpy188I;+BsmAI;+DdeI;+BspCNI; - - Peter Krawitz, VKGL-NL_Nijmegen, Anne-Françoise Roux, William J. Kimberling, Maria Bitner-Glindzicz
+?/., ?/. 2 - c.132+5G>A r.spl, r.spl? p.? - - likely pathogenic, VUS g.76853873G>A g.77142827G>A - - MYO7A_000863 1 heterozygous, no homozygous; Clinindb (India) PubMed: Ellingford 2016, PubMed: Narang 2020, Journal: Narang 2020 - rs397516284 Germline - 1/2795 individuals - - - Mohammed Faruq
-/. 1 - c.133-14C>T r.(=) p.(=) - - benign g.76858830C>T g.77147784C>T MYO7A(NM_000260.4):c.133-14C>T - MYO7A_000788 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -/?, -?/. 7 3i c.133-7C>T r.(=) p.(=) - ACMG benign, likely benign g.76858837C>T g.77147791C>T MYO7A(NM_000260.3):c.133-7C>T, MYO7A(NM_000260.4):c.133-7C>T - MYO7A_000368 Heterozygous; UV1, VKGL data sharing initiative Nederland PubMed: Le Quesne Stabej 2012 - rs111033221 CLASSIFICATION record, Germline - 0/96 controls -FauI;-NlaIV; - - VKGL-NL_Rotterdam, VKGL-NL_AMC, Maria Bitner-Glindzicz
+/+ 4 3i c.133-2A>G r.spl p.? - - pathogenic g.76858842A>G g.77147796A>G - - MYO7A_000200 Heterozygous, Heterozygous; mutation PubMed: Bonnet 2016, PubMed: Le Quesne Stabej 2012, PubMed: Liu 1997 - - Germline - 0/878 controls +BstUI;+SacII;+BsaJI;+MspA1I;+BtgI; - - Anne-Françoise Roux, Maria Bitner-Glindzicz, Crystel Bonnet
?/. 1 - c.133_153dup r.(?) p.(Glu45_Gln51dup) - - VUS g.76858844_76858864dup - MYO7A(NM_000260.3):c.133-5_133-4insGCAGGAACACTGGATCTCTCC - MYO7A_000878 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.160A>G r.(?) p.(Thr54Ala) - - VUS g.76858871A>G g.77147825A>G - - MYO7A_000687 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.170A>G r.(?) p.(Lys57Arg) - - VUS g.76858881A>G g.77147835A>G - - MYO7A_000789 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 2 4 c.183del r.(?) p.(Thr62Argfs*9) Motor domain (1-729) - pathogenic g.76858894del g.77147848del 183delC - MYO7A_000557 Heterozygous; mutation PubMed: Bonnet 2016 - rs782261543 Germline - - - - - Crystel Bonnet
+?/? 1 4 c.199G>A r.(?) p.(Val67Met) Motor domain (1-729) ACMG VUS g.76858910G>A g.77147864G>A - - MYO7A_000220 Heterozygous PubMed: Bharadwaj 2000; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - - - - - Anne-Françoise Roux
+?/. 1 - c.202_285+34del r.(?) p.(?) - - likely pathogenic g.76858913_76859030del g.77147867_77147984del - - MYO7A_000842 - - - - Unknown - - - - - IMGAG
+/+ 5 4 c.223del r.(?) p.(Asp75Thrfs*31) Motor domain (1-729) - pathogenic g.76858934del g.77147888del 223delG - MYO7A_000001 Heterozygous PubMed: Bharadwaj 2000, PubMed: Maubaret 2005, PubMed: Roux 2006, PubMed: Weston 1996 - - Germline - 0/100 controls - - - Anne-Françoise Roux, William J. Kimberling
+?/., +?/? 2 4 c.223G>C r.(?) p.(Asp75His) Motor domain (1-729) ACMG likely pathogenic, VUS g.76858934G>C g.77147888G>C c.223G>C p.(Asp75Hlis), c.6070C>T p.(Arg2024*) - MYO7A_000381 Heterozygous; UV4 PubMed: Hagag 2020, 1 more item - - Germline, Germline/De novo (untested) ? 0/878 controls BaeGI;+BanI;+Bsp1286I;-EcoO109I;-BslI;-AvaII; - - Maria Bitner-Glindzicz
?/. 1 - c.225C>A r.(?) p.(Asp75Glu) - - VUS g.76858936C>A g.77147890C>A - - MYO7A_000844 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/? 2 4 c.252C>G r.(?) p.(Asn84Lys) Motor domain (1-729) ACMG VUS g.76858963C>G g.77147917C>G - - MYO7A_000237 Homozygous PubMed: Riazuddin 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/192 controls - - - Anne-Françoise Roux
+?/+ 1 4 c.262C>T r.(?) p.(Arg88Cys) Motor domain (1-729) ACMG VUS g.76858973C>T g.77147927C>T - - MYO7A_000593 Heterozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - - - - - Crystel Bonnet
?/. 1 - c.268C>T r.(?) p.(Arg90Trp) - - VUS g.76858979C>T g.77147933C>T MYO7A(NM_000260.3):c.268C>T (p.R90W) - MYO7A_000845 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 1 4 c.269G>C r.(?) p.(Arg90Pro) Motor domain (1-729) ACMG VUS g.76858980G>C g.77147934G>C - - MYO7A_000221 Heterozygous PubMed: Bharadwaj 2000; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/172 controls - - - Anne-Françoise Roux
+?/? 1 4 c.284A>G r.(?) p.(Tyr95Cys) Motor domain (1-729) ACMG VUS g.76858995A>G g.77147949A>G - - MYO7A_000531 Heterozygous PubMed: Bujakowska 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - - - - - Anne-Françoise Roux
+?/. 1 - c.285+2T>C r.spl p.? - - likely pathogenic g.76858998T>C g.77147952T>C IVS4+2T>C - MYO7A_000939 - PubMed: Stone 2017 - - Germline - - - - - LOVD
+/. 3 4i, 7i c.285+2T>G r.spl p.? - ACMG pathogenic g.76858998T>G g.77147952T>G - - MYO7A_000773 - Sharon, submitted, PubMed: Sharon 2019 - - Germline - 7/2420 IRD families - - - Global Variome, with Curator vacancy, Dror Sharon
-/? 1 4i c.285+57C>T r.(=) p.(=) - ACMG likely benign g.76859053C>T g.77148007C>T - - MYO7A_000451 Heterozygous PubMed: Saihan 2011 - - Germline - 0/96 controls +BccI;-MnlI; - - Maria Bitner-Glindzicz
-/- 14 4i c.285+73C>T r.(=) p.(=) - - benign g.76859069C>T g.77148023C>T - - MYO7A_000290 Heterozygous, Homozygous PubMed: Jaijo 2006, PubMed: Jaijo 2007, PubMed: Najera 2002, PubMed: Roux 2011 - rs4074664 Germline - - - - - Anne-Françoise Roux, Jose Maria Millan
-/- 2 4i c.285+91C>A r.(=) p.(=) - - benign g.76859087C>A g.77148041C>A - - MYO7A_000065 Homozygous PubMed: Blanchet 2007 - - Germline - - - - - Anne-Françoise Roux
-/-, -/., -?/. 6 5 c.288G>A r.(=), r.(?) p.(=), p.(Thr96=) Motor domain (1-729) - benign, likely benign g.76866955G>A g.77155909G>A - - MYO7A_000393 14 heterozygous, no homozygous; Clinindb (India), Heterozygous; Neutral, 1 more item PubMed: Le Quesne Stabej 2012, PubMed: Narang 2020, Journal: Narang 2020 - rs56023295 CLASSIFICATION record, Germline - 14/2795 individuals, 14/874 controls -Hpy166II;-HpyCH4IV;-BstZ17I;-AccI; - - VKGL-NL_Nijmegen, Maria Bitner-Glindzicz, Mohammed Faruq
+/., +?/. 2 - c.324C>A r.(?) p.(Tyr108*) - - likely pathogenic, pathogenic (recessive) g.76866991C>A g.77155945C>A 11:76866991C>A ENST00000409709.3:c.324C>A (Tyr108Ter), c.324C>A p.(Tyr108*) - MYO7A_000908 homozygous PubMed: Carss 2017, PubMed: Hagag 2020 - - Germline, Germline/De novo (untested) ? - - - - LOVD
+/. 1 - c.325C>T r.(?) p.(Gln109Ter) - - pathogenic g.76866992C>T - - - MYO7A_000879 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 5 c.338_348dup r.(?) p.(Glu117Serfs*33) Motor domain (1-729) - pathogenic g.76867005_76867015dup g.77155959_77155969dup - - MYO7A_000470 Heterozygous PubMed: Le Quesne Stabej 2012 - - Germline - - +BccI - - Maria Bitner-Glindzicz
+/+ 2 5 c.358del r.(?) p.(Arg120Alafs*26) Motor domain (1-729) - pathogenic g.76867025del g.77155979del 358delC - MYO7A_000153 Heterozygous PubMed: Pennings 2004 - - Germline - - - - - Anne-Françoise Roux
-?/? 1 5 c.359G>A r.(?) p.(Arg120His) Motor domain (1-729) ACMG likely benign g.76867026G>A g.77155980G>A - - MYO7A_000454 Heterozygous; UV1 PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/878 controls -EciI;-AciI; - - Maria Bitner-Glindzicz
+/+, +/. 2 5 c.361del r.(?) p.(Gln121Serfs*25), p.(Gln121SerfsTer25) Motor domain (1-729) - pathogenic g.76867028del g.77155982del 360delC, MYO7A(NM_000260.3):c.361delC (p.Q121Sfs*25) - MYO7A_000148, MYO7A_000689 Heterozygous, VKGL data sharing initiative Nederland PubMed: Weston 1996 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, William J. Kimberling
?/. 1 - c.388A>T r.(?) p.(Met130Leu) - - VUS g.76867055A>T g.77156009A>T MYO7A(NM_000260.3):c.388A>T (p.M130L) - MYO7A_000846 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 5 c.392C>T r.(?) p.(Pro131Leu) - - VUS g.76867059C>T g.77156013C>T - - MYO7A_000607 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - Manou Sommen
+/+, +?/. 4 5 c.395C>T r.(?) p.(Pro132Leu) Motor domain (1-729) - likely pathogenic, pathogenic g.76867062C>T g.77156016C>T (p.Pro132Leu) - MYO7A_000172 Homozygous, VKGL data sharing initiative Nederland PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d, 1 more item - - CLASSIFICATION record, Germline - 0/100 controls - - - VKGL-NL_Nijmegen, Anne-Françoise Roux, Jose Maria Millan
+?/? 1 5 c.397C>G r.(?) p.(His133Asp) Motor domain (1-729) ACMG VUS g.76867064C>G g.77156018C>G - - MYO7A_000018 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/352 controls +BcgI - - Anne-Françoise Roux
+/., +?/? 3 5 c.397C>T r.(?) p.(His133Tyr) Motor domain (1-729) ACMG pathogenic, VUS g.76867064C>T g.77156018C>T - - MYO7A_000272 Heterozygous PubMed: Le Guédard-Méreuze 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d, 2 more items - rs111033403 Germline - - - - - Anne-Françoise Roux
+/+, +/., +?/. 12 5 c.397dup r.(?) p.(His133Profs*7), p.(His133ProfsTer7) Motor domain (1-729) ACMG likely pathogenic, pathogenic, pathogenic (recessive) g.76867064dup g.77156018dup 390_391insC, 390_391insC - p.M130fs, 397dupC, c.390_391insC, 1 more item - MYO7A_000364 Heterozygous, Heterozygous; mutation, Homozygous, VKGL data sharing initiative Nederland Bahena et al., 2021 (submitted), PubMed: Bonnet 2011, PubMed: Bonnet 2016, PubMed: Jiang 2015, 3 more items - rs111033187 CLASSIFICATION record, Germline yes 0/200 controls none - - VKGL-NL_AMC, Barbara Vona, Anne-Françoise Roux, Crystel Bonnet
+/+ 2 5 c.399dup r.(?) p.(Ile134Hisfs*6) Motor domain (1-729) - pathogenic g.76867066dup g.77156020dup - - MYO7A_000240 Homozygous PubMed: Riazuddin 2008 - - Germline - 0/192 controls - - - Anne-Françoise Roux
+?/., +?/? 2 5 c.401T>A r.(?) p.(Ile134Asn) Motor domain (1-729) ACMG likely pathogenic, VUS g.76867068T>A g.77156022T>A - - MYO7A_000222 1 heterozygous, no homozygous; Clinindb (India), Heterozygous PubMed: Bharadwaj 2000; USMA-USMA missense analysis USMA-missense variant in MSV3d, 1 more item - rs111033181 Germline - 0/172 controls, 1/2794 individuals - - - Anne-Françoise Roux, Mohammed Faruq
?/. 1 - c.442A>G r.(?) p.(Asn148Asp) - - VUS g.76867109A>G g.77156063A>G MYO7A(NM_000260.3):c.442A>G (p.N148D) - MYO7A_000790 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.448C>A r.(?) p.(Arg150=) - - likely benign g.76867115C>A g.77156069C>A MYO7A(NM_000260.3):c.448C>A (p.R150=) - MYO7A_000774 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 11 5 c.448C>T r.(?) p.(Arg150*), p.(Arg150Ter) Motor domain (1-729) - pathogenic g.76867115C>T g.77156069C>T c.C448T; p.R150* - MYO7A_000129 8 heterozygous, no homozygous; Clinindb (India), Heterozygous, Heterozygous; mutation, Homozygous, 1 more item Kahrizi et al., P49, 6th Molecular Biology of Hearing and Deafness Conference, 2007., 7 more items - rs121965079 Germline ? 0/64 controls, 8/2795 individuals +PvuII;+DdeI;+BspCNI;+AluI;+MspA1I;-BcgI; - - Anne-Françoise Roux, Jose Maria Millan, Crystel Bonnet, Mohammed Faruq
+/+ 9 5 c.462C>A r.(?) p.(Cys154*) Motor domain (1-729) - pathogenic g.76867129C>A g.77156083C>A - - MYO7A_000513 Heterozygous; mutation, Homozygous; mutation PubMed: Gao 2014, PubMed: Reddy 2014 - - Germline - 0/438 controls - - - Rima Slim, Anne-Françoise Roux
-?/. 3 - c.468C>T r.(=), r.(?) p.(=), p.(Ile156=) - - likely benign g.76867135C>T g.77156089C>T MYO7A(NM_000260.3):c.468C>T (p.(=)) - MYO7A_000791 1 homozygous; Clinindb (India), 60 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs12420129 CLASSIFICATION record, Germline - 1/2795 individuals, 60/2795 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
+/? 1 6 c.470G>A r.spl p.(Ser157Asn) Motor domain (1-729) ACMG likely pathogenic g.76867137G>A g.77156091G>A - - MYO7A_000188 Heterozygous; shown in Aparisi , 2013 to affect splicing (p.(Asn443_Glu450del)) PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - - - - - Jose Maria Millan
+/+, +/. 11 5i c.470+1G>A r.spl, r.spl? p.? - - pathogenic, pathogenic (recessive) g.76867138G>A g.77156092G>A - - MYO7A_000192 Homozygous, VKGL data sharing initiative Nederland PubMed: Abdi 2016, PubMed: Adato 1997, PubMed: Ben-Rebeh 2016, PubMed: Neuhaus 2017 - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_Nijmegen, Anne-Françoise Roux, Crystel Bonnet
-/? 2 5i c.470+43T>C r.(=) p.(=) - ACMG likely benign g.76867180T>C g.77156134T>C - - MYO7A_000389 Heterozygous PubMed: Le Quesne Stabej 2012 - rs61899977 Germline - 0/96 controls +NlaIV;-BfaI; - - Maria Bitner-Glindzicz
-/- 3 5i c.470+96C>T r.(=) p.(=) - - benign g.76867233C>T g.77156187C>T - - MYO7A_000102 Heterozygous, Homozygous PubMed: Roux 2006, PubMed: Roux 2011 - rs55880704 Germline - - - - - Anne-Françoise Roux
+/. 1 - c.471-2A>G r.spl p.? - ACMG pathogenic g.76867704A>G g.77156658A>G - - MYO7A_000916 - PubMed: Sun 2018 - - Germline - - - - - LOVD
+/+ 2 5i c.471-1G>A r.spl p.? - - pathogenic g.76867705G>A g.77156659G>A - - MYO7A_000247 Homozygous PubMed: Riazuddin 2008 - - Germline - 0/192 controls - - - Anne-Françoise Roux
+/., +?/? 2 6 c.472G>A r.(?) p.(Gly158Arg) Motor domain (1-729);ATP binding site (158-165) ACMG pathogenic (recessive), VUS g.76867707G>A g.77156661G>A - - MYO7A_000480 Heterozygous PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d, 1 more item - - Germline yes - -BtsI;-TspRI; - - Johan den Dunnen, Anne-Françoise Roux
+?/. 1 - c.482G>A r.(?) p.(Gly161Glu) - - likely pathogenic g.76867717G>A - - - chr11_007050 - - - - Unknown - - - - - MobiDetails
-?/. 1 - c.486C>T r.(?) p.(Ala162=) - - likely benign g.76867721C>T g.77156675C>T MYO7A(NM_000260.3):c.486C>T (p.A162=) - MYO7A_000792 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +/?, +?/. 8 6 c.487G>A r.(?) p.(Gly163Arg) Motor domain (1-729), ATP binding site (158-165), Motor domain (1-729);ATP binding site (158-165) ACMG likely pathogenic, likely pathogenic (recessive), pathogenic (recessive) g.76867722G>A g.77156676G>A NM_000260.3:c.487G>A;p.(Gly163Arg) - MYO7A_000099 Heterozygous, Heterozygous; mutation, Homozygous Bahena et al., 2021 (submitted), PubMed: Patel 2018, 4 more items - rs28937873 Germline yes 0/664 controls +BstNI;+PspGI;-HpaII;-NciI;-MspI; - - Barbara Vona, Anne-Françoise Roux, Crystel Bonnet
+/? 2 6 c.487G>C r.(?) p.(Gly163Arg) Motor domain (1-729);ATP binding site (158-165) ACMG likely pathogenic g.76867722G>C g.77156676G>C - - MYO7A_000073 Heterozygous PubMed: Jacobson 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d, 1 more item - - Germline - 0/664 controls - - - Anne-Françoise Roux
+/+ 2 6 c.490A>T r.(?) p.(Lys164*) Motor domain (1-729) - pathogenic g.76867725A>T g.77156679A>T - - MYO7A_000363 Homozygous PubMed: Bonnet 2011 - - Germline - - +Hpy166II;+AccI;-BbsI;-MboII; - - Anne-Françoise Roux
+?/? 2 6 c.491A>G r.(?) p.(Lys164Arg) Motor domain (1-729);ATP binding site (158-165) ACMG VUS g.76867726A>G g.77156680A>G - - MYO7A_000067 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/664 controls - - - Anne-Françoise Roux
+?/? 1 6 c.492G>C r.(?) p.(Lys164Asn) Motor domain (1-729);ATP binding site (158-165) ACMG VUS g.76867727G>C g.77156681G>C - - MYO7A_000204 Heterozygous PubMed: Jacobson 2009; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - - - - - William J. Kimberling
+?/? 2 6 c.493A>G r.(?) p.(Thr165Ala) Motor domain (1-729);ATP binding site (158-165) ACMG VUS g.76867728A>G g.77156682A>G - - MYO7A_000103 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/664 controls - - - Anne-Françoise Roux
+/+, -/- 15 6 c.494C>T r.(?) p.(Thr165Met) Motor domain (1-729), ATP binding site (158-165), Motor domain (1-729);ATP binding site (158-165) - pathogenic g.76867729C>T g.77156683C>T - - MYO7A_000078 Heterozygous, Heterozygous; causative, Heterozygous; mutation, Homozygous USMA-USMA missense analysis USMA-missense variant in MSV3d, 7 more items - rs111033174 Germline - 0/200 controls, 0/352 controls, 0/664 controls - - - Anne-Françoise Roux, Crystel Bonnet
-/? 1 6 c.495G>A r.(?) p.(=) Motor domain (1-729) ACMG likely benign g.76867730G>A g.77156684G>A - - MYO7A_000459 Heterozygous; UV1 PubMed: Le Quesne Stabej 2012 - - Germline - - none - - Maria Bitner-Glindzicz
+/+, +/. 9 6 c.496del r.(?) p.(Glu166Argfs*5) Motor domain (1-729), ATP binding site (158-165), Motor domain (1-729);ATP binding site (158-165) ACMG pathogenic, pathogenic (recessive) g.76867731del g.77156685del 496delG - MYO7A_000235 Heterozygous; mutation, Homozygous PubMed: Bonnet 2016, PubMed: Neuhaus 2017, PubMed: Riazuddin 2008 - rs111033448 Germline yes 0/192 controls - - - Barbara Vona, Anne-Françoise Roux, Crystel Bonnet
+/. 1 6 c.496G>T r.(?) p.(Glu166Ter) - - pathogenic g.76867731G>T g.77156685G>T c.G496T; p.E166* - MYO7A_000603 - PubMed: Ivanova 2018 - - Germline ? - - - - LOVD
-/-, -/., -?/. 3 6 c.510G>A r.(?) p.(=), p.(Leu170=) Motor domain (1-729) - benign, likely benign g.76867745G>A g.77156699G>A MYO7A(NM_000260.3):c.510G>A (p.L170=), MYO7A(NM_000260.4):c.510G>A (p.L170=) - MYO7A_000077 Heterozygous, VKGL data sharing initiative Nederland PubMed: Roux 2006 - rs34477144 CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, Anne-Françoise Roux
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