Full data view for gene MYO15A


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_016239.3 transcript reference sequence.

655 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

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ID_report     

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+/+ _1_66_ c.-338-?_*932+?del r.0 p.0 - Paternal (confirmed) - pathogenic g.(?_18012020)_(18083116_?)del - - - MYO15A_000040 Heterozygous, responsible for SMS PubMed: Liburd et al., 2001 - - Germline - - - - - DNA SEQ - - SMS - PubMed: Liburd et al., 2001 proband - - - - - - - - 1 Anne-Françoise Roux
-/? 2 c.-76A>C r.(=) p.(=) - Both (homozygous) ACMG VUS g.18022039A>C g.18118725A>C - - MYO15A_000042 homozygous PubMed: Kalay et al., 2007 - rs854818 Germline - - +BsaI; - - DNA SEQ - - DFNB - PubMed: Kalay et al., 2007 proband F - Turkey - - - - - 1 Anne-Françoise Roux
-/-? 2 c.54G>A r.(?) p.(=) N-terminal domain (1-1223) Unknown ACMG likely benign g.18022168G>A g.18118854G>A - - MYO15A_000056 Heterozygous PubMed: Besnard, Garcia-Garcia et al., 2014 - rs144909486 Germline - - - - - DNA SEQ-NG-S, Southern - - USH2 - PubMed: Besnard, Garcia-Garcia et al., 2014 proband F - France - - - - - 1 Anne-Françoise Roux
-?/. - c.54G>A r.(?) p.(Lys18=) - Unknown - likely benign g.18022168G>A g.18118854G>A MYO15A(NM_016239.3):c.54G>A (p.K18=) - MYO15A_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.371C>G r.(?) p.(Ala124Gly) - Unknown - VUS g.18022485C>G g.18119171C>G - - MYO15A_000144 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
+/. 2 c.373_374del r.(?) p.(Arg125Valfs*102) - Maternal (confirmed) - pathogenic g.18022487_18022488del g.18119173_18119174del 373delCG - MYO15A_000029 3/240 hearing controls heterozygous PubMed: Brownstein 2011, Journal: Brownstein 2011 - - Germline yes 1/120 cases (het) - - - DNA SEQ-NG-I blood - DFNB3 - PubMed: Brownstein 2011, Journal: Brownstein 2011 - - no Israel Jewish-Ashkenazi - - - - 2 Zippi Brownstein
+/. 2 c.373_374del r.(?) p.(Arg125Valfs*102) - Parent #1 - pathogenic g.18022487_18022488del g.18119173_18119174del 373delCG - MYO15A_000029 - PubMed: Brownstein 2011, Journal: Brownstein 2011 - - Germline - 3/240 controls (het) - - - DNA SEQ - - Healthy/Control - PubMed: Brownstein 2011, Journal: Brownstein 2011 240 controls - - Israel - - - - - 3 Johan den Dunnen
+/+ 2 c.373_374del r.(?) p.(Arg125Valfs*102) N-terminal domain (1-1223) Maternal (confirmed) - pathogenic g.18022487_18022488del g.18119173_18119174del 373delCG and as p.(Arg125Valfs*101) - MYO15A_000029 Heterozygous PubMed: Brownstein et al., 2011 - - Germline - 3/480 controls +BceAI;-BssKI;-StyD4I;-MspI;-HpaII;-ScrFI - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Brownstein et al., 2011 proband M - Israel - - - - - 1 Anne-Françoise Roux
+/+ 2 c.373_374del r.(?) p.(Arg125Valfs*102) N-terminal domain (1-1223) Maternal (confirmed) - pathogenic g.18022487_18022488del g.18119173_18119174del 373delCG and as p.(Arg125Valfs*101) - MYO15A_000029 Heterozygous PubMed: Brownstein et al., 2011 - - Germline - 3/480 controls +BceAI;-BssKI;-StyD4I;-MspI;-HpaII;-ScrFI - - DNA SEQ - - DFNB - PubMed: Brownstein et al., 2011 relative M - - - - - - - 1 Anne-Françoise Roux
-?/. - c.381C>G r.(?) p.(Leu127=) - Unknown - likely benign g.18022495C>G g.18119181C>G MYO15A(NM_016239.3):c.381C>G (p.L127=) - MYO15A_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.393C>G r.(?) p.(Ser131=) - Unknown - likely benign g.18022507C>G - MYO15A(NM_016239.3):c.393C>G (p.S131=) - MYO15A_000392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.453_455delinsTGGACGCCTGGTCGGGCAGTGG r.(?) p.(Glu152Glyfs*82) N-terminal domain (1-1223) Both (homozygous) - pathogenic g.18022567_18022569delinsTGGACGCCTGGTCGGGCAGTGG g.18119253_18119255delinsTGGACGCCTGGTCGGGCAGTGG (p.Glu152Glyfs*81) - MYO15A_000092 homozygous PubMed: Vozzi et al., 2014 - - Germline - 0/200 controls - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Vozzi 2014 proband M - Qatar - - - - - 1 Anne-Françoise Roux
?/. - c.458A>G r.(?) p.(Gln153Arg) - Unknown - VUS g.18022572A>G - - - MYO15A_000451 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.557G>A r.(?) p.(Arg186Gln) - Unknown - VUS g.18022671G>A - - - MYO15A_000452 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.625G>T r.(?) p.(Glu209*) - Parent #1 - likely pathogenic g.18022739G>T g.18119425G>T - - MYO15A_000126 - PubMed: Neveling 2013 - - Unknown ? - - - - DNA SEQ - - ? - PubMed: Neveling 2013 - - - - - - - - - 1 Marcel Nelen
+?/. - c.625G>T r.(?) p.(Glu209*) - Parent #1 - likely pathogenic g.18022739G>T g.18119425G>T - - MYO15A_000126 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+/. - c.625G>T r.(?) p.(Glu209Ter) - Unknown - pathogenic g.18022739G>T g.18119425G>T - - MYO15A_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.665C>G r.(?) p.(Ser222Trp) - Unknown - VUS g.18022779C>G g.18119465C>G MYO15A(NM_016239.3):c.665C>G (p.S222W) - MYO15A_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.709G>A r.(?) p.(Asp237Asn) - Parent #1 - likely benign g.18022823G>A g.18119509G>A - - MYO15A_000326 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201737186 Germline - 1/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.712T>G r.(?) p.(Tyr238Asp) - Unknown - VUS g.18022826T>G g.18119512T>G MYO15A(NM_016239.3):c.712T>G (p.Y238D) - MYO15A_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.766G>A r.(?) p.(Glu256Lys) - Unknown - VUS g.18022880G>A g.18119566G>A - - MYO15A_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.785C>A r.(?) p.(Ala262Glu) - Unknown - VUS g.18022899C>A - - - MYO15A_000389 - - - rs746407850 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/-? 2 c.806C>T r.(?) p.(Pro269Leu) N-terminal domain (1-1223) Unknown ACMG likely benign g.18022920C>T g.18119606C>T - - MYO15A_000064 heterozygous, {MSV3dQ9UKN7:p.Pro269Leu} PubMed: Besnard, Garcia-Garcia et al., 2014 - - Germline - - -HpaII;-MspI;-NciI; - - DNA SEQ, SEQ-NG-S - - deafness - PubMed: Besnard, Garcia-Garcia et al., 2014 proband M - France - - - - - 1 Anne-Françoise Roux
?/. - c.823G>C r.(?) p.(Gly275Arg) - Unknown - VUS g.18022937G>C g.18119623G>C MYO15A(NM_016239.3):c.823G>C (p.G275R) - MYO15A_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.867C>G r.(?) p.(Tyr289*) N-terminal domain (1-1223) Both (homozygous) - pathogenic g.18022981C>G g.18119667C>G - - MYO15A_000032 homozygous PubMed: Duman et al., 2011 - - Germline - 0/200 controls +CviQI;+SpeI;+BfaI;+RsaI - - DNA SEQ - - DFNB - PubMed: Duman et al., 2011 proband - - Turkey - - - - - 1 Anne-Françoise Roux
?/. - c.900delT r.(?) p.? - Unknown ACMG likely pathogenic (recessive) g.18023014delT - - - MYO15A_000355 - PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - DFNA1 - PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
+?/. - c.909C>A r.(?) p.(Tyr303*) - Unknown - likely pathogenic g.18023023C>A - - - MYO15A_000426 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.915C>T r.(?) p.(Tyr305=) - Unknown - likely benign g.18023029C>T g.18119715C>T MYO15A(NM_016239.3):c.915C>T (p.Y305=) - MYO15A_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1026C>T r.(?) p.(Tyr342=) - Unknown - likely benign g.18023140C>T g.18119826C>T MYO15A(NM_016239.3):c.1026C>T (p.Y342=) - MYO15A_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1096G>A r.(?) p.(Val366Ile) - Unknown - VUS g.18023210G>A - - - MYO15A_000430 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1111C>A r.(?) p.(Pro371Thr) - Unknown - likely benign g.18023225C>A g.18119911C>A MYO15A(NM_016239.3):c.1111C>A (p.P371T) - MYO15A_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1111C>A r.(?) p.(Pro371Thr) - Unknown - likely benign g.18023225C>A g.18119911C>A - - MYO15A_000150 - PubMed: Eisenberger 2018 - rs200382813 Germline - - - - - DNA SEQ-NG-I - - DFNA FamPatIV2 PubMed: Eisenberger 2018 4-generation family, 8 affected (4F, 4M) M no Germany white - - - - 8 Hanno Bolz
+/. - c.1128C>A r.(?) p.(Tyr376*) - Parent #1 ACMG pathogenic g.18023242C>A g.18119928C>A - - MYO15A_000358 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19791 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
?/. - c.1133del r.(?) p.(Val378Alafs*66) - Unknown - VUS g.18023247del g.18119933del - - MYO15A_000142 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
+?/. 2 c.1137del r.(?) p.(Tyr380fs) - Parent #2 - likely pathogenic g.18023251del g.18119937del - - MYO15A_000090 - PubMed: Neveling 2013 - - Unknown ? - - - - DNA SEQ - - ? - PubMed: Neveling 2013 - - - - - - - - - 1 Marcel Nelen
+?/. - c.1137del r.(?) p.(Tyr380Metfs*64) - Parent #2 - likely pathogenic g.18023251del g.18119937del - - MYO15A_000090 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+/+ 2 c.1137del r.(?) p.(Tyr380Metfs*64) N-terminal domain (1-1223) Paternal (confirmed) - pathogenic g.18023251del g.18119937del 1137delC - MYO15A_000090 Heterozygous PubMed: Vona et al., 2014 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Vona et al., 2014 proband M - Germany - - - - - 1 Anne-Françoise Roux
+/. - c.1137del r.(?) p.(Tyr380MetfsTer64) - Unknown - pathogenic g.18023251del - MYO15A(NM_016239.3):c.1137delC (p.Y380Mfs*64) - MYO15A_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.1179_1185dup r.(?) p.(Glu396Profs*38) N-terminal domain (1-1223) Paternal (confirmed) - pathogenic g.18023293_18023299dup g.18119979_18119985dup 1179_1185insC and as p.P393fs - MYO15A_000106 Heterozygous PubMed: Miyagawa et al., 2013 - - Germline - 0/144 controls - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Miyagawa et al., 2013 proband M - Japan - - - - - 1 Anne-Françoise Roux
+/. - c.1185del r.(?) p.(Glu396ArgfsTer48) - Unknown - pathogenic g.18023299del g.18119985del MYO15A(NM_016239.3):c.1185delC (p.E396Rfs*48) - MYO15A_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.1185dup r.(?) p.(Glu396Argfs*36) N-terminal domain (1-1223) Both (homozygous) - pathogenic (recessive) g.18023299dup g.18119985dup 1185dupC - MYO15A_000030 - PubMed: Bashir et al., 2012 - - Germline yes - none - - DNA SEQ - - DFNB HLRB3 PubMed: Bashir 2012, PubMed: Naz 2017 family, 3 affected F - Pakistan - - - - - 3 Anne-Françoise Roux
+/+ 2 c.1185dup r.(?) p.(Glu396Argfs*36) N-terminal domain (1-1223) Paternal (confirmed) - pathogenic g.18023299dup g.18119985dup 1179_1185insC - MYO15A_000030 Heterozygous PubMed: Miyagawa et al., 2013 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Miyagawa et al., 2013 proband M - Japan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.1185dup r.(?) p.(Glu396Argfs*36) N-terminal domain (1-1223) Paternal (confirmed) - pathogenic g.18023299dup g.18119985dup 1179_1185insC - MYO15A_000030 Heterozygous PubMed: Miyagawa et al., 2013 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Miyagawa et al., 2013 relative M - Japan - - - - - 1 Anne-Françoise Roux
?/. - c.1185dup r.(?) p.(Glu396Argfs*36) - Unknown ACMG pathogenic (recessive) g.18023299dup g.18119985dup 1185dupC - MYO15A_000030 - PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - DFNA1 - PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
+/. - c.1185dup r.(?) p.(Glu396ArgfsTer36) - Unknown ACMG pathogenic (recessive) g.18023299dup g.18119985dup - - MYO15A_000030 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-315 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
?/. - c.1185dupC r.(?) p.(Glu396Argfs*36) - Unknown ACMG pathogenic (recessive) g.18023299dup g.18119985dup 1185dupC - MYO15A_000030 - PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - DFNA1 - PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
?/. - c.1210G>T r.(?) p.(Glu404*) - Unknown - VUS g.18023324G>T g.18120010G>T - - MYO15A_000143 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
+/? 2 c.1223C>T r.(?) p.(Ala408Val) N-terminal domain (1-1223) Paternal (confirmed) - pathogenic g.18023337C>T g.18120023C>T - - MYO15A_000072 heterozygous, {MSV3dQ9UKN7:p.Ala408Val} - - - Germline - - - - - DNA SEQ-NG-S - - deafness - - proband M - Israel Palestinian Arab - - - - 1 Daphne Karfunkel
+?/? 2 c.1223C>T r.(?) p.(Ala408Val) N-terminal domain (1-1223) Maternal (confirmed) ACMG VUS g.18023337C>T g.18120023C>T - - MYO15A_000072 heterozygous, {MSV3dQ9UKN7:p.Ala408Val} PubMed: Brownstein et al., 2014 - rs191710555 Germline - 0/200 controls - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Brownstein et al., 2014 proband F - Palestine - - - - - 1 Anne-Françoise Roux
+?/? 2 c.1223C>T r.(?) p.(Ala408Val) N-terminal domain (1-1223) Maternal (confirmed) ACMG VUS g.18023337C>T g.18120023C>T - - MYO15A_000072 heterozygous, {MSV3dQ9UKN7:p.Ala408Val} PubMed: Brownstein et al., 2014 - rs191710555 Germline - 0/200 controls - - - DNA SEQ - - DFNB - PubMed: Brownstein et al., 2014 relative M - Palestine - - - - - 1 Anne-Françoise Roux
-?/. - c.1223C>T r.(?) p.(Ala408Val) - Unknown - likely benign g.18023337C>T - - - MYO15A_000072 - - - rs191710555 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1266C>A r.(?) p.(His422Gln) - Unknown - VUS g.18023380C>A g.18120066C>A MYO15A(NM_016239.3):c.1266C>A (p.H422Q) - MYO15A_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1324G>A r.(?) p.(Gly442Ser) - Unknown - VUS g.18023438G>A - MYO15A(NM_016239.3):c.1324G>A (p.G442S) - MYO15A_000334 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1385G>A r.(?) p.(Gly462Asp) - Unknown - likely benign g.18023499G>A g.18120185G>A MYO15A(NM_016239.3):c.1385G>A (p.G462D) - MYO15A_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1385G>A r.(?) p.(Gly462Asp) - Unknown - likely benign g.18023499G>A g.18120185G>A MYO15A(NM_016239.3):c.1385G>A (p.G462D) - MYO15A_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/-? 2 c.1385G>A r.(?) p.(Gly462Asp) - Unknown ACMG likely benign g.18023499G>A g.18120185G>A - - MYO15A_000058 heterozygous, {MSV3dQ9UKN7:p.Gly462Asp} PubMed: Besnard, Garcia-Garcia et al., 2014 - rs45292219 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Besnard, Garcia-Garcia et al., 2014 proband F - France - - - - - 1 Anne-Françoise Roux
?/. - c.1387A>G r.(?) p.(Met463Val) - Unknown - VUS g.18023501A>G g.18120187A>G MYO15A(NM_016239.3):c.1387A>G (p.M463V) - MYO15A_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1387A>G r.(?) p.(Met463Val) - Unknown - VUS g.18023501A>G g.18120187A>G MYO15A(NM_016239.3):c.1387A>G (p.M463V) - MYO15A_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.1387A>G r.(?) p.(Met463Val) N-terminal domain (1-1223) Both (homozygous) - pathogenic g.18023501A>G g.18120187A>G - - MYO15A_000077 homozygous, {MSV3dQ9UKN7:p.Met463Val} PubMed: Fattahi et al,.2012 - - Germline - - - - - DNA SEQ - - DFNB - PubMed: Fattahi et al,.2012 - - - Iran sistani (southeastern Iran) - - - - 1 Anne-Françoise Roux
?/. - c.1454T>C r.(?) p.(Val485Ala) - Unknown - VUS g.18023568T>C g.18120254T>C MYO15A(NM_016239.3):c.1454T>C (p.V485A) - MYO15A_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1454T>C r.(?) p.(Val485Ala) - Unknown - likely benign g.18023568T>C - MYO15A(NM_016239.3):c.1454T>C (p.V485A) - MYO15A_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1546G>T r.(?) p.(Glu516Ter) - Unknown - pathogenic g.18023660G>T g.18120346G>T MYO15A(NM_016239.3):c.1546G>T (p.E516*) - MYO15A_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1546G>T r.(?) p.(Glu516Ter) - Unknown - pathogenic g.18023660G>T - MYO15A(NM_016239.3):c.1546G>T (p.E516*) - MYO15A_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1613G>A r.(?) p.(Arg538His) - Unknown - VUS g.18023727G>A g.18120413G>A MYO15A(NM_016239.3):c.1613G>A (p.R538H) - MYO15A_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1615C>T r.(?) p.(Gln539*) - Maternal (confirmed) ACMG pathogenic (recessive) g.18023729C>T - - - MYO15A_000376 in compound heterozygosis with c.3524_3525insA PubMed: Batissoco 2021 ClinVar-SCV001792219 - De novo yes - - - - DNA SEQ-NG-I - - HL M1 PubMed: Batissoco 2021 - F no Brazil - - - - - 1 Karina Lezirovitz Mandelbaum
?/. - c.1634C>T r.(?) p.(Ala545Val) - Unknown - VUS g.18023748C>T g.18120434C>T MYO15A(NM_016239.3):c.1634C>T (p.A545V) - MYO15A_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/? 2 c.1656C>T r.(?) p.(=) N-terminal domain (1-1223) Unknown ACMG VUS g.18023770C>T g.18120456C>T - - MYO15A_000063 - PubMed: Besnard, Garcia-Garcia et al., 2014 - - Germline - - +BccI;-BslI;-HpaII;-MspI;-NciI; - - DNA SEQ, SEQ-NG-S - - deafness - PubMed: Besnard, Garcia-Garcia et al., 2014 proband F - - - - - - - 1 Anne-Françoise Roux
+/. - c.1657del r.(?) p.(Arg553GlyfsTer76) - Both (homozygous) - pathogenic (recessive) g.18023771del g.18120457del 1657delC - MYO15A_000435 - PubMed: Naz 2017 - rs750651809 Germline - - - - - DNA SEQ, SEQ-NG - - HL HLAM05 PubMed: Naz 2017 family, 3 affected - - Pakistan Punjab - - - - 3 Johan den Dunnen
?/. - c.1721G>C r.(?) p.(Arg574Pro) - Unknown - VUS g.18023835G>C g.18120521G>C MYO15A(NM_016239.3):c.1721G>C (p.R574P) - MYO15A_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1783G>A r.(?) p.(Ala595Thr) - Unknown - benign g.18023897G>A g.18120583G>A MYO15A(NM_016239.3):c.1783G>A (p.A595T), MYO15A(NM_016239.4):c.1783G>A (p.A595T) - MYO15A_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 2 c.1783G>A r.(?) p.(Ala595Thr) N-terminal domain (1-1223) Both (homozygous) ACMG VUS g.18023897G>A g.18120583G>A - - MYO15A_000043 homozygous, {MSV3dQ9UKN7:p.Ala595Thr} PubMed: Kalay et al., 2007 - rs2955365 Germline - - +BbsI;+MboII;-PhoI;-Sau96I;-HaeIII;-HpyAV; - - DNA SEQ - - DFNB - PubMed: Kalay et al., 2007 proband F - Turkey - - - - - 1 Anne-Françoise Roux
-/. - c.1783G>A r.(?) p.(Ala595Thr) - Unknown - benign g.18023897G>A g.18120583G>A MYO15A(NM_016239.3):c.1783G>A (p.A595T), MYO15A(NM_016239.4):c.1783G>A (p.A595T) - MYO15A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1783G>A r.(?) p.(Ala595Thr) - Unknown - benign g.18023897G>A g.18120583G>A MYO15A(NM_016239.3):c.1783G>A (p.A595T), MYO15A(NM_016239.4):c.1783G>A (p.A595T) - MYO15A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1783G>A r.(?) p.(Ala595Thr) - Both (homozygous) - VUS g.18023897G>A - A595T - MYO15A_000043 - PubMed: Taghipour-Sheshdeh 2019, - - Germline - - - - - DNA SEQ, SEQ-NG Blood Otogenetics Deafness Panel DFNB49 FamPat22 PubMed: Taghipour-Sheshdeh 2019 5-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes Iran Arab - - - - 3 Yacouba Dia
-?/. - c.1845T>C r.(?) p.(Ala615=) - Unknown - likely benign g.18023959T>C - MYO15A(NM_016239.3):c.1845T>C (p.A615=) - MYO15A_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1867G>A r.(?) p.(Gly623Ser) - Unknown - VUS g.18023981G>A g.18120667G>A MYO15A(NM_016239.3):c.1867G>A (p.G623S) - MYO15A_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1899A>G r.(?) p.(Pro633=) - Unknown - benign g.18024013A>G g.18120699A>G MYO15A(NM_016239.3):c.1899A>G (p.P633=), MYO15A(NM_016239.4):c.1899A>G (p.P633=) - MYO15A_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1899A>G r.(?) p.(Pro633=) - Unknown - benign g.18024013A>G g.18120699A>G MYO15A(NM_016239.3):c.1899A>G (p.P633=), MYO15A(NM_016239.4):c.1899A>G (p.P633=) - MYO15A_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1899A>G r.(?) p.(Pro633=) - Unknown - benign g.18024013A>G g.18120699A>G MYO15A(NM_016239.3):c.1899A>G (p.P633=), MYO15A(NM_016239.4):c.1899A>G (p.P633=) - MYO15A_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 2 c.1899A>G r.(?) p.(=) N-terminal domain (1-1223) Both (homozygous) ACMG VUS g.18024013A>G g.18120699A>G - - MYO15A_000044 homozygous PubMed: Kalay et al., 2007 - rs2955366 Germline - - +BssHII;+Fnu4HI;+AciI; - - DNA SEQ - - DFNB - PubMed: Kalay et al., 2007 proband F - Turkey - - - - - 1 Anne-Françoise Roux
-?/. - c.1941A>C r.(?) p.(Pro647=) - Unknown - likely benign g.18024055A>C g.18120741A>C MYO15A(NM_016239.3):c.1941A>C (p.P647=) - MYO15A_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2020C>T r.(?) p.(Pro674Ser) - Unknown - likely benign g.18024134C>T - - - MYO15A_000372 - - - rs557225435 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2020C>T r.(?) p.(Pro674Ser) - Unknown - likely benign g.18024134C>T - MYO15A(NM_016239.3):c.2020C>T (p.P674S) - MYO15A_000372 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2028C>A r.(?) p.(Pro676=) - Unknown - likely benign g.18024142C>A g.18120828C>A MYO15A(NM_016239.3):c.2028C>A (p.P676=) - MYO15A_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2054dup r.(?) p.(Leu687Profs*293) - Unknown - likely pathogenic g.18024168dup - - - MYO15A_000453 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2055delinsCC r.(?) p.(Gly686Argfs*294) - Unknown - likely pathogenic g.18024169delinsCC - - - MYO15A_000406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2152T>G r.(?) p.(Trp718Gly) - Unknown - benign g.18024266T>G g.18120952T>G MYO15A(NM_016239.3):c.2152T>G (p.W718G), MYO15A(NM_016239.4):c.2152T>G (p.W718G) - MYO15A_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2152T>G r.(?) p.(Trp718Gly) - Unknown - benign g.18024266T>G g.18120952T>G MYO15A(NM_016239.3):c.2152T>G (p.W718G), MYO15A(NM_016239.4):c.2152T>G (p.W718G) - MYO15A_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2152T>G r.(?) p.(Trp718Gly) - Unknown - benign g.18024266T>G g.18120952T>G MYO15A(NM_016239.3):c.2152T>G (p.W718G), MYO15A(NM_016239.4):c.2152T>G (p.W718G) - MYO15A_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 2 c.2152T>G r.(?) p.(Trp718Gly) N-terminal domain (1-1223) Both (homozygous) ACMG VUS g.18024266T>G g.18120952T>G - - MYO15A_000045 homozygous, {MSV3dQ9UKN7:p.Trp718Gly} PubMed: Kalay et al., 2007 - rs2955367 Germline - - +FauI;+AciI;-PvuII;-AluI;-CviKI_1; - - DNA SEQ - - DFNB - PubMed: Kalay et al., 2007 proband F - Turkey - - - - - 1 Anne-Françoise Roux
?/. - c.2164G>T r.(?) p.(Val722Leu) - Unknown - VUS g.18024278G>T - - - MYO15A_000341 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2194C>T r.(?) p.(Pro732Ser) - Unknown - VUS g.18024308C>T g.18120994C>T - - MYO15A_000140 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
?/. - c.2194C>T r.(?) p.(Pro732Ser) - Unknown - VUS g.18024308C>T g.18120994C>T MYO15A(NM_016239.3):c.2194C>T (p.P732S) - MYO15A_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2215C>G r.(?) p.(Pro739Ala) - Unknown - VUS g.18024329C>G g.18121015C>G MYO15A(NM_016239.3):c.2215C>G (p.P739A) - MYO15A_000302 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2418C>T r.(?) p.(Phe806=) - Unknown - likely benign g.18024532C>T g.18121218C>T MYO15A(NM_016239.3):c.2418C>T (p.F806=) - MYO15A_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2456C>A r.(?) p.(Ser819Ter) - Both (homozygous) - pathogenic (recessive) g.18024570C>A g.18121256C>A - - MYO15A_000436 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1382 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.2456C>A r.(?) p.(Ser819Ter) - Both (homozygous) - pathogenic (recessive) g.18024570C>A g.18121256C>A - - MYO15A_000436 - PubMed: Naz 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL HLAI-06 PubMed: Naz 2017 family, 3 affected - - Pakistan Punjab - - - - 3 Johan den Dunnen
+/. - c.2471del r.(?) p.(Pro824GlnfsTer39) - Unknown - pathogenic g.18024585del g.18121271del - - MYO15A_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2535G>A r.(?) p.(Arg845=) - Unknown - likely benign g.18024649G>A - MYO15A(NM_016239.3):c.2535G>A (p.R845=) - MYO15A_000335 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2575C>T r.(?) p.(Arg859Cys) - Unknown - VUS g.18024689C>T - MYO15A(NM_016239.3):c.2575C>T (p.R859C) - MYO15A_000336 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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