Full data view for gene MYO6


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_004999.3 transcript reference sequence.

176 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-2750123_*190520del - r.0? p.0? - Maternal (confirmed) g.73709065_76815249del - - - KHDC3L_000005 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected parents M - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
+?/? 2 c.26C>T UV3 (ACMG: 3) r.(=) p.(Ala9Val) - Unknown g.76527290C>T - - - MYO6_000023 heterozygous, {MSV3dQ9UM54:p.Ala9Val} PubMed: Baux, Vaché et al., 2017 - rs199508553 Germline - - - 0 - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Baux, Vaché et al., 2017 proband F - France - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.36dup pathogenic r.(?) p.(Thr13Tyrfs*20) - Both (homozygous) g.76527300dup - 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - 0 - DNA SEQ - - DFNB - PubMed: Ahmed et al., 2003 proband F - Pakistan - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.36dup pathogenic r.(?) p.(Thr13Tyrfs*20) - Both (homozygous) g.76527300dup - 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - 0 - DNA SEQ - - DFNB - PubMed: Ahmed et al., 2003 relative M - Pakistan - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.36dup pathogenic r.(?) p.(Thr13Tyrfs*20) - Both (homozygous) g.76527300dup - 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - 0 - DNA SEQ - - DFNB - PubMed: Ahmed et al., 2003 relative M - Pakistan - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.36dup pathogenic r.(?) p.(Thr13Tyrfs*20) - Both (homozygous) g.76527300dup - 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - 0 - DNA SEQ - - DFNB - PubMed: Ahmed et al., 2003 relative M - Pakistan - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.36dup pathogenic r.(?) p.(Thr13Tyrfs*20) - Both (homozygous) g.76527300dup - 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - 0 - DNA SEQ - - DFNB - PubMed: Ahmed et al., 2003 relative F - Pakistan - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.36dup pathogenic r.(?) p.(Thr13Tyrfs*20) - Both (homozygous) g.76527300dup - 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - 0 - DNA SEQ - - DFNB - PubMed: Ahmed et al., 2003 relative F - Pakistan - - 0 - - 1 Anne-Françoise Roux
+?/. - c.37del likely pathogenic r.(?) p.(Thr13Glnfs*17) - Unknown g.76527301del - - - MYO6_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.163A>G - r.(?) p.(Ser55Gly) - Unknown g.76532544A>G g.75822827A>G - - MYO6_000033 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - 0 - - 1 Manou Sommen
?/. - c.178G>C VUS r.(?) p.(Glu60Gln) - Unknown g.76532559G>C - MYO6(NM_004999.3):c.178G>C (p.E60Q) - MYO6_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.188-1G>A pathogenic r.spl? p.? - Unknown g.76538256G>A - - - MYO6_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.212C>T likely benign r.(?) p.(Ala71Val) - Unknown g.76538281C>T - MYO6(NM_004999.3):c.212C>T (p.A71V) - MYO6_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.212C>T VUS r.(?) p.(Ala71Val) - Unknown g.76538281C>T - MYO6(NM_004999.3):c.212C>T (p.A71V) - MYO6_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.238C>T - r.(?) p.(Arg80*) - Unknown g.76538307C>T g.75828590C>T - - MYO6_000102 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs727504567 Germline - 1/2792 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. 5 c.271G>A - r.(?) p.(Ala91Thr) - Unknown g.76540142G>A g.75830425G>A - - MYO6_000037 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - 0 - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
?/. - c.373C>T VUS r.(?) p.(Pro125Ser) - Unknown g.76540244C>T - - - MYO6_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.406C>A likely benign r.(?) p.(=) - Unknown g.76542573C>A - MYO6(NM_004999.3):c.406C>A (p.R136=) - MYO6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.406C>T likely pathogenic r.(?) p.(Arg136*) - Unknown g.76542573C>T - - - MYO6_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.431G>A VUS r.(?) p.(Ser144Asn) - Unknown g.76542598G>A - MYO6(NM_004999.3):c.431G>A (p.S144N) - MYO6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.456del pathogenic r.(?) p.(Glu152Aspfs*14) - Unknown g.76542623del - - - MYO6_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.457T>C pathogenic r.(?) p.(Ser153Pro) - Unknown g.76542624T>C - MYO6(NM_004999.3):c.457T>C (p.S153P) - MYO6_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.457T>C VUS r.(?) p.(Ser153Pro) - Unknown g.76542624T>C - MYO6(NM_004999.3):c.457T>C (p.S153P) - MYO6_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.553+11T>C benign r.(=) p.(=) - Unknown g.76545684T>C - - - MYO6_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 6i c.554-1G>A pathogenic r.? p.? - Maternal (confirmed) g.76550301G>A - splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - 0 - DNA SEQ - - DFNA - PubMed: Volk et al., 2013 proband M - Germany - - 0 - - 1 Anne-Françoise Roux
+/+ 6i c.554-1G>A pathogenic r.? p.? - Maternal (confirmed) g.76550301G>A - splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - 0 - DNA SEQ - - DFNA - PubMed: Volk et al., 2013 relative F - Germany - - 0 - - 1 Anne-Françoise Roux
+/+ 6i c.554-1G>A pathogenic r.? p.? - Paternal (inferred) g.76550301G>A - splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - 0 - DNA SEQ - - DFNA - PubMed: Volk et al., 2013 relative F - Germany - - 0 - - 1 Anne-Françoise Roux
+/+ 6i c.554-1G>A pathogenic r.? p.? - Paternal (inferred) g.76550301G>A - splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - 0 - DNA SEQ - - DFNA - PubMed: Volk et al., 2013 relative F - Germany - - 0 - - 1 Anne-Françoise Roux
+/+ 6i c.554-1G>A pathogenic r.? p.? - Paternal (inferred) g.76550301G>A - splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - 0 - DNA SEQ - - DFNA - PubMed: Volk et al., 2013 relative F - Germany - - 0 - - 1 Anne-Françoise Roux
+/+ 6i c.554-1G>A pathogenic r.? p.? - Paternal (inferred) g.76550301G>A - splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - 0 - DNA SEQ - - DFNA - PubMed: Volk et al., 2013 relative M - Germany - - 0 - - 1 Anne-Françoise Roux
+?/. 8 c.584C>A - r.(?) p.(Ala195Glu) - Parent #1 g.76550332C>A g.75840615C>A - - MYO6_000038 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - 0 - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
?/. - c.584C>A VUS r.(?) p.(Ala195Glu) - Unknown g.76550332C>A - - - MYO6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 8 c.608G>A - r.(?) p.(Ser203Asn) - Unknown g.76550356G>A g.75840639G>A - - MYO6_000034 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - 0 - - 1 Manou Sommen
+/+ 8 c.613C>T pathogenic r.(?) p.(Arg205*) Motor domain (57-771) Paternal (inferred) g.76550361C>T - - - MYO6_000016 Heterozygous PubMed: Choi et al., 2013 - rs557441143 Germline - - - 0 - DNA SEQ, SEQ-NG-S - - DFNA - PubMed: Choi et al., 2013 proband M - Korea - - 0 - - 1 Anne-Françoise Roux
+/+ 8 c.613C>T pathogenic r.(?) p.(Arg205*) Motor domain (57-771) Paternal (inferred) g.76550361C>T - - - MYO6_000016 Heterozygous PubMed: Choi et al., 2013 - rs557441143 Germline - - - 0 - DNA SEQ, SEQ-NG-S - - DFNA - PubMed: Choi et al., 2013 proband F - Korea - - 0 - - 1 Anne-Françoise Roux
+?/? 8 c.614G>A UV3 (ACMG: 3) r.(?) p.(Arg205Gln) Motor domain (57-771) Paternal (inferred) g.76550362G>A - - - MYO6_000009 heterozygous, {MSV3dQ9UM54:p.(Arg205Gln)} PubMed: Miyagawa et al., 2013 - - Germline - 1/144 controls - 0 - DNA SEQ, SEQ-NG-S - - DFNA - PubMed: Miyagawa et al., 2013 proband F - Japan - - 0 - - 1 Anne-Françoise Roux
+?/? 8 c.614G>A UV3 (ACMG: 3) r.(?) p.(Arg205Gln) Motor domain (57-771) Maternal (inferred) g.76550362G>A - - - MYO6_000009 heterozygous, {MSV3dQ9UM54:p.(Arg205Gln)} PubMed: Kwon et al., 2014 - - Germline - 0/200 controls - 0 - DNA SEQ - - DFNA - PubMed: Kwon et al., 2014 proband F - Korea - - 0 - - 1 Anne-Françoise Roux
+?/? 8 c.647A>T UV3 (ACMG: 3) r.(?) p.(Glu216Val) Motor domain (57-771) Both (homozygous) g.76550395A>T - - - MYO6_000004 homozygous, {MSV3dQ9UM54:p.Glu216Val} PubMed: Ahmed et al., 2003 - rs121912559 Germline - 0/540 controls - 0 - DNA SEQ - - DFNB - PubMed: Ahmed et al., 2003 proband M - Pakistan - - 0 - - 1 Anne-Françoise Roux
+?/? 9 c.734A>G UV3 (ACMG: 3) r.(?) p.(Tyr245Cys) Motor domain (57-771) Unknown g.76551013A>G - - - MYO6_000021 heterozygous, {MSV3dQ9UM54:p.(Tyr245Cys)} PubMed: Yang et al., 2013 - - Germline - 0/400 controls - 0 - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Yang et al., 2013 proband - - China - - 0 - - 1 Anne-Françoise Roux
+?/? 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771) Unknown g.76551016A>G - - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - DNA SEQ - - DFNA - PubMed: Mohiddin et al., 2004 proband M - - - - 0 - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771) Unknown g.76551016A>G - - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - DNA SEQ - - DFNA - PubMed: Mohiddin et al., 2004 relative M - - - - 0 - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771) Unknown g.76551016A>G - - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - DNA SEQ - - DFNA - PubMed: Mohiddin et al., 2004 relative M - - - - 0 - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771) Unknown g.76551016A>G - - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - DNA SEQ - - DFNA - PubMed: Mohiddin et al., 2004 relative M - - - - 0 - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771) Unknown g.76551016A>G - - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - DNA SEQ - - DFNA - PubMed: Mohiddin et al., 2004 relative F - - - - 0 - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771) Unknown g.76551016A>G - - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - DNA SEQ - - DFNA - PubMed: Mohiddin et al., 2004 relative F - - - - 0 - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771) Unknown g.76551016A>G - - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - DNA SEQ - - DFNA - PubMed: Mohiddin et al., 2004 relative F - - - - 0 - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771) Unknown g.76551016A>G - - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - DNA SEQ - - DFNA - PubMed: Mohiddin et al., 2004 relative M - - - - 0 - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771) Unknown g.76551016A>G - - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - DNA SEQ - - DFNA - PubMed: Mohiddin et al., 2004 relative F - - - - 0 - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771) Unknown g.76551016A>G - - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - DNA SEQ - - DFNA - PubMed: Mohiddin et al., 2004 relative F - - - - 0 - - 1 Anne-Françoise Roux
+/+ 10 c.862_865del pathogenic r.(?) p.(Asp288Asnfs*18) Motor domain (57-771) Unknown g.76554659_76554662del - - - MYO6_000019 Heterozygous PubMed: Shearer et al., 2010 - - Germline - 0/270 controls - 0 - DNA SEQ-NG-S - - DFNA - PubMed: Shearer et al., 2010 proband - - - - - 0 - - 1 Anne-Françoise Roux
+?/? 10 c.897G>T UV3 (ACMG: 3) r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771) Both (homozygous) g.76554694G>T - splice mutation - MYO6_000010 homozygous PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - 0 - DNA SEQ, SEQ-NG-S - - DFNA - PubMed: Brownstein et al., 2014 proband - homozygous for semi-dominant mutation F - Palestine - - 0 - - 1 Anne-Françoise Roux
+?/? 10 c.897G>T UV3 (ACMG: 3) r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771) Paternal (confirmed) g.76554694G>T - splice mutation - MYO6_000010 Heterozygous PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - 0 - DNA SEQ - - DFNA - PubMed: Brownstein et al., 2014 relative M - Palestine - - 0 - - 1 Anne-Françoise Roux
+?/? 10 c.897G>T UV3 (ACMG: 3) r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771) Paternal (confirmed) g.76554694G>T - splice mutation - MYO6_000010 Heterozygous PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - 0 - DNA SEQ - - DFNA - PubMed: Brownstein et al., 2014 relative F - Palestine - - 0 - - 1 Anne-Françoise Roux
+?/? 10 c.897G>T UV3 (ACMG: 3) r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771) Paternal (confirmed) g.76554694G>T - splice mutation - MYO6_000010 Heterozygous PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - 0 - DNA SEQ - - DFNA - PubMed: Brownstein et al., 2014 relative M - Palestine - - 0 - - 1 Anne-Françoise Roux
+?/? 10 c.897G>T UV3 (ACMG: 3) r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771) Unknown g.76554694G>T - splice mutation - MYO6_000010 Heterozygous PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - 0 - DNA SEQ - - DFNA - PubMed: Brownstein et al., 2014 relative M - Palestine - - 0 - - 1 Anne-Françoise Roux
+?/? 11 c.1015C>T UV3 (ACMG: 3) r.(?) p.(Arg339Trp) Motor domain (57-771) Unknown g.76558185C>T - - - MYO6_000022 heterozygous, {MSV3dQ9UM54:p.(Arg339Trp)} PubMed: Yang et al., 2013 - - Germline - 0/400 controls - 0 - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Yang et al., 2013 proband - - China - - 0 - - 1 Anne-Françoise Roux
-?/. - c.1025C>T likely benign r.(?) p.(Ala342Val) - Unknown g.76558195C>T - MYO6(NM_004999.3):c.1025C>T (p.A342V) - MYO6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1025C>T likely benign r.(?) p.(Ala342Val) - Unknown g.76558195C>T - MYO6(NM_004999.3):c.1025C>T (p.A342V) - MYO6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1025C>T likely benign r.(?) p.(Ala342Val) - Unknown g.76558195C>T - MYO6(NM_004999.3):c.1025C>T (p.A342V) - MYO6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1176A>G benign r.(?) p.(=) - Unknown g.76564953A>G - - - MYO6_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/? 12 c.1211del - r.(?) p.(Gly404fs) - Parent #1 g.76564988del g.75855271del - - MYO6_000031 MYO6 mutation explains phenotype, better than CHD23 mutations, segregation analysis needed - - - Unknown ? - - 0 - DNA SEQ - - ?, MD - - - - - - - - - - - 1 Marcel Nelen
+?/. 12 c.1211del - r.(?) p.(Gly404Glufs*4) - Parent #1 g.76564988del g.75855271del - - MYO6_000031 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - 0 - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
?/. - c.1220T>C VUS r.(?) p.(Ile407Thr) - Unknown g.76564997T>C - MYO6(NM_004999.3):c.1220T>C (p.I407T) - MYO6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1224-4A>G likely benign r.spl? p.? - Unknown g.76566810A>G - MYO6(NM_004999.3):c.1224-4A>G - MYO6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1296T>G VUS r.(?) p.(Phe432Leu) - Unknown g.76566886T>G - - - MYO6_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/? 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771) Maternal (confirmed) g.76566915G>A - - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - DNA SEQ - - DFNA - PubMed: Melchionda et al., 2001 proband M - Italy - - 0 - - 1 Anne-Françoise Roux
+?/? 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771) Maternal (confirmed) g.76566915G>A - - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - DNA SEQ - - DFNA - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - 1 Anne-Françoise Roux
+/+ 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771) Maternal (confirmed) g.76566915G>A - - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - DNA SEQ - - DFNA - PubMed: Melchionda et al., 2001 relative M - Italy - - 0 - - 1 Anne-Françoise Roux
+/+ 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771) Maternal (confirmed) g.76566915G>A - - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - DNA SEQ - - DFNA - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - 1 Anne-Françoise Roux
+/+ 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771) Maternal (confirmed) g.76566915G>A - - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - DNA SEQ - - DFNA - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - 1 Anne-Françoise Roux
+/+ 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771) Maternal (confirmed) g.76566915G>A - - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - DNA SEQ - - DFNA - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - 1 Anne-Françoise Roux
+/+ 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771) Maternal (confirmed) g.76566915G>A - - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - DNA SEQ - - DFNA - PubMed: Melchionda et al., 2001 relative M - Italy - - 0 - - 1 Anne-Françoise Roux
+/+ 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771) Paternal (inferred) g.76566915G>A - - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - DNA SEQ - - DFNA - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - 1 Anne-Françoise Roux
+/+ 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771) Paternal (inferred) g.76566915G>A - - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - DNA SEQ - - DFNA - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - 1 Anne-Françoise Roux
?/. - c.1398C>G VUS r.(?) p.(Asn466Lys) - Unknown g.76568635C>G - MYO6(NM_004999.3):c.1398C>G (p.N466K) - MYO6_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1473_1475delinsC - r.spl? p.? - Maternal (inferred) g.76568710_76568712del3insC - 1473_1475del3insC - MYO6_000032 0/299 controls - - - Germline yes 1/177 patients - 0 - DNA SEQ-NG-I blood - DFNA-22 - - - - no Israel Ashkenazi Jew - 0 - - 3 Zippi Brownstein
+?/? 15i c.1546+1G>T - r.spl p.? - Parent #1 g.76570813G>T g.75861096G>T - - MYO6_000030 - - - - Unknown ? - - 0 - DNA SEQ - - ? - - - - - - - - - - - 1 Marcel Nelen
+?/. 15i c.1546+1G>T - r.spl p.? - Parent #1 g.76570813G>T g.75861096G>T - - MYO6_000030 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline yes - - 0 - DNA SEQ-NG - - DFNA - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - 0 - - 1 Mieke Wesdorp
+/. - c.1546+1G>T pathogenic r.spl? p.? - Unknown g.76570813G>T - - - MYO6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1617T>G VUS r.(?) p.(Ser539Arg) - Unknown g.76572383T>G - - - MYO6_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1625_1626del pathogenic r.(?) p.(His542Leufs*22) - Unknown g.76572391_76572392del - MYO6(NM_004999.3):c.1625_1626delAC (p.H542Lfs*22) - MYO6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1703A>G VUS r.(?) p.(His568Arg) - Unknown g.76576271A>G - - - MYO6_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1722C>T benign r.(?) p.(=) - Unknown g.76576290C>T - - - MYO6_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1733T>A VUS r.(?) p.(Ile578Asn) - Unknown g.76576301T>A - MYO6(NM_004999.3):c.1733T>A (p.I578N) - MYO6_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1753G>T VUS r.(?) p.(Ala585Ser) - Unknown g.76576321G>T - - - MYO6_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1767A>G likely benign r.(?) p.(=) - Unknown g.76576335A>G - - - MYO6_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 18 c.1897del - r.(?) p.(Gln633Lysfs*19) - Parent #2 g.76576775del g.75867058del - - MYO6_000039 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - 0 - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
-?/. - c.1903G>A likely benign r.(?) p.(Ala635Thr) - Unknown g.76576781G>A - - - MYO6_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1926C>T likely benign r.(?) p.(=) - Unknown g.76576804C>T - MYO6(NM_004999.3):c.1926C>T (p.S642=) - MYO6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 19 c.1975C>T pathogenic r.(?) p.(Arg659*) Motor domain (57-771) Paternal (confirmed) g.76580394C>T - - - MYO6_000008 Heterozygous PubMed: Miyagawa et al., 2013 - - Germline - 1/144 controls - 0 - DNA SEQ, SEQ-NG-S - - DFNA - PubMed: Miyagawa et al., 2013 proband F - Japan - - 0 - - 1 Anne-Françoise Roux
+/+ 19 c.1975C>T pathogenic r.(?) p.(Arg659*) Motor domain (57-771) Paternal (confirmed) g.76580394C>T - - - MYO6_000008 Heterozygous PubMed: Miyagawa et al., 2013 - - Germline - 1/144 controls - 0 - DNA SEQ - - DFNA - PubMed: Miyagawa et al., 2013 relative M - Japan - - 0 - - 1 Anne-Françoise Roux
+/+ 19 c.1975C>T pathogenic r.(?) p.(Arg659*) Motor domain (57-771) Unknown g.76580394C>T - - - MYO6_000008 Heterozygous PubMed: Miyagawa et al., 2013 - - Germline - 1/144 controls - 0 - DNA SEQ - - DFNA - PubMed: Miyagawa et al., 2013 relative M - Japan - - 0 - - 1 Anne-Françoise Roux
+/. - c.1975C>T pathogenic r.(?) p.(Arg659*) - Unknown g.76580394C>T - - - MYO6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1999C>T VUS r.(?) p.(Arg667Cys) - Unknown g.76582939C>T - - - MYO6_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2345A>G VUS r.(?) p.(Lys782Arg) - Unknown g.76591464A>G - - - MYO6_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2416+5G>A likely pathogenic r.spl? p.? - Unknown g.76591540G>A - - - MYO6_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 23i c.IVS23+2321T>G pathogenic r.[=,2286_2287insNG_009934.1:g.139947_140054] p.(Phe763Trpfs*6) Motor domain (57-771) Paternal (confirmed) g.76593856T>G - - - MYO6_000006 Heterozygous PubMed: Hilgert et al., 2008 - - Germline - 0/278 controls - 0 - DNA SEQ - - DFNA - PubMed: Hilgert et al., 2008 proband F - Belgium - - 0 - - 1 Anne-Françoise Roux
+/+ 23i c.IVS23+2321T>G pathogenic r.[=,2286_2287insNG_009934.1:g.139947_140054] p.(Phe763Trpfs*6) Motor domain (57-771) Paternal (confirmed) g.76593856T>G - - - MYO6_000006 Heterozygous PubMed: Hilgert et al., 2008 - - Germline - 0/278 controls - 0 - DNA SEQ - - DFNA - PubMed: Hilgert et al., 2008 relative F - Belgium - - 0 - - 1 Anne-Françoise Roux
?/. - c.2449T>G VUS r.(?) p.(Cys817Gly) - Unknown g.76595753T>G - - - MYO6_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 24 c.2473C>T pathogenic r.(?) p.(Arg825*) IQ (814-834) Maternal (inferred) g.76595777C>T - - - MYO6_000012 Heterozygous PubMed: Kwon et al., 2014 - - Germline - 0/200 controls - 0 - DNA SEQ - - DFNA - PubMed: Kwon et al., 2014 proband M - Korea - - 0 - - 1 Anne-Françoise Roux
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