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.

253 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-2750123_*190520del r.0? p.0? - Maternal (confirmed) - pathogenic g.73709065_76815249del - - - KHDC3L_000005 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected parents M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/? 2 c.26C>T r.(=) p.(Ala9Val) - Unknown ACMG VUS g.76527290C>T g.75817573C>T - - MYO6_000023 heterozygous, {MSV3dQ9UM54:p.Ala9Val} PubMed: Baux, Vaché et al., 2017 - rs199508553 Germline - - - - - DNA SEQ, SEQ-NG-S - - DFNB S1761 PubMed: Baux 2017 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 2 c.36dup r.(?) p.(Thr13Tyrfs*20) - Both (homozygous) - pathogenic g.76527300dup g.75817583dup 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - - - DNA SEQ - - DFNB - PubMed: Ahmed et al., 2003 proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.36dup r.(?) p.(Thr13Tyrfs*20) - Both (homozygous) - pathogenic g.76527300dup g.75817583dup 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - - - DNA SEQ - - DFNB - PubMed: Ahmed et al., 2003 relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.36dup r.(?) p.(Thr13Tyrfs*20) - Both (homozygous) - pathogenic g.76527300dup g.75817583dup 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - - - DNA SEQ - - DFNB - PubMed: Ahmed et al., 2003 relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.36dup r.(?) p.(Thr13Tyrfs*20) - Both (homozygous) - pathogenic g.76527300dup g.75817583dup 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - - - DNA SEQ - - DFNB - PubMed: Ahmed et al., 2003 relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.36dup r.(?) p.(Thr13Tyrfs*20) - Both (homozygous) - pathogenic g.76527300dup g.75817583dup 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - - - DNA SEQ - - DFNB - PubMed: Ahmed et al., 2003 relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.36dup r.(?) p.(Thr13Tyrfs*20) - Both (homozygous) - pathogenic g.76527300dup g.75817583dup 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - - - DNA SEQ - - DFNB - PubMed: Ahmed et al., 2003 relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+?/. - c.37del r.(?) p.(Thr13GlnfsTer17) - Unknown - likely pathogenic g.76527301del g.75817584del - - MYO6_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.163A>G r.(?) p.(Ser55Gly) - Unknown - VUS g.76532544A>G g.75822827A>G - - MYO6_000033 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
?/. - c.178G>C r.(?) p.(Glu60Gln) - Unknown - VUS g.76532559G>C g.75822842G>C MYO6(NM_004999.3):c.178G>C (p.E60Q) - MYO6_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.188-1G>A r.spl? p.? - Unknown - pathogenic g.76538256G>A g.75828539G>A - - MYO6_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.212C>T r.(?) p.(Ala71Val) - Unknown - likely benign g.76538281C>T g.75828564C>T MYO6(NM_004999.3):c.212C>T (p.A71V) - MYO6_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.212C>T r.(?) p.(Ala71Val) - Unknown - VUS g.76538281C>T g.75828564C>T MYO6(NM_004999.3):c.212C>T (p.A71V) - MYO6_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.214A>G r.(?) p.(Thr72Ala) - Unknown - VUS g.76538283A>G - - - MYO6_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.238C>T r.(?) p.(Arg80*) - Parent #1 - likely pathogenic g.76538307C>T g.75828590C>T - - MYO6_000102 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs727504567 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. 5 c.271G>A r.(?) p.(Ala91Thr) - Unknown - VUS g.76540142G>A g.75830425G>A - - MYO6_000037 - 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.373C>T r.(?) p.(Pro125Ser) - Unknown - VUS g.76540244C>T g.75830527C>T - - MYO6_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.406C>A r.(?) p.(Arg136=) - Unknown - likely benign g.76542573C>A g.75832856C>A MYO6(NM_004999.3):c.406C>A (p.R136=) - MYO6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.406C>T r.(?) p.(Arg136Ter) - Unknown - pathogenic g.76542573C>T g.75832856C>T - - MYO6_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.412A>G r.(?) p.(Met138Val) - Unknown - VUS g.76542579A>G - MYO6(NM_004999.3):c.412A>G (p.M138V) - MYO6_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.431G>A r.(?) p.(Ser144Asn) - Unknown - VUS g.76542598G>A g.75832881G>A MYO6(NM_004999.3):c.431G>A (p.S144N) - MYO6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.456del r.(?) p.(Glu152AspfsTer14) - Unknown - pathogenic g.76542623del g.75832906del - - MYO6_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.457T>C r.(?) p.(Ser153Pro) - Unknown - pathogenic g.76542624T>C g.75832907T>C MYO6(NM_004999.4):c.457T>C (p.S153P) - MYO6_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.457T>C r.(?) p.(Ser153Pro) - Unknown - VUS g.76542624T>C - MYO6(NM_004999.4):c.457T>C (p.S153P) - MYO6_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.473C>G r.(?) p.(Thr158Arg) - Unknown ACMG VUS g.76542640C>G g.75832923C>G - - MYO6_000117 ACMG PM2, PP3 PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HL SB305-607 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
?/. - c.475G>A r.(?) p.(Glu159Lys) - Unknown - VUS g.76542642G>A - - - MYO6_000130 - - - rs201507590 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.553+11T>C r.(=) p.(=) - Unknown - benign g.76545684T>C g.75835967T>C - - MYO6_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.554-4A>G r.spl? p.? - Unknown - VUS g.76550298A>G - MYO6(NM_004999.3):c.554-4A>G - MYO6_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6i c.554-1G>A r.spl? p.? - Maternal (confirmed) - pathogenic g.76550301G>A g.75840584G>A splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - - - DNA SEQ - - DFNA1 - PubMed: Volk et al., 2013 proband M - Germany - - - - - 1 Anne-Françoise Roux
+/+ 6i c.554-1G>A r.spl? p.? - Maternal (confirmed) - pathogenic g.76550301G>A g.75840584G>A splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - - - DNA SEQ - - DFNA1 - PubMed: Volk et al., 2013 relative F - Germany - - - - - 1 Anne-Françoise Roux
+/+ 6i c.554-1G>A r.spl? p.? - Paternal (inferred) - pathogenic g.76550301G>A g.75840584G>A splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - - - DNA SEQ - - DFNA1 - PubMed: Volk et al., 2013 relative F - Germany - - - - - 1 Anne-Françoise Roux
+/+ 6i c.554-1G>A r.spl? p.? - Paternal (inferred) - pathogenic g.76550301G>A g.75840584G>A splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - - - DNA SEQ - - DFNA1 - PubMed: Volk et al., 2013 relative F - Germany - - - - - 1 Anne-Françoise Roux
+/+ 6i c.554-1G>A r.spl? p.? - Paternal (inferred) - pathogenic g.76550301G>A g.75840584G>A splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - - - DNA SEQ - - DFNA1 - PubMed: Volk et al., 2013 relative F - Germany - - - - - 1 Anne-Françoise Roux
+/+ 6i c.554-1G>A r.spl? p.? - Paternal (inferred) - pathogenic g.76550301G>A g.75840584G>A splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - - - DNA SEQ - - DFNA1 - PubMed: Volk et al., 2013 relative M - Germany - - - - - 1 Anne-Françoise Roux
+?/. 8 c.584C>A r.(?) p.(Ala195Glu) - Parent #1 - likely pathogenic g.76550332C>A g.75840615C>A - - MYO6_000038 - 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.584C>A r.(?) p.(Ala195Glu) - Unknown - VUS g.76550332C>A g.75840615C>A - - MYO6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.608G>A r.(?) p.(Ser203Asn) - Unknown - VUS g.76550356G>A g.75840639G>A - - MYO6_000034 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
+/+ 8 c.613C>T r.(?) p.(Arg205*) Motor domain (57-771) Paternal (inferred) - pathogenic g.76550361C>T g.75840644C>T - - MYO6_000016 Heterozygous PubMed: Choi et al., 2013 - rs557441143 Germline - - - - - DNA SEQ, SEQ-NG-S - - DFNA1 SB60-107 PubMed: Choi 2013 proband M - Korea - - - - - 1 Anne-Françoise Roux
+/+ 8 c.613C>T r.(?) p.(Arg205*) Motor domain (57-771) Paternal (inferred) - pathogenic g.76550361C>T g.75840644C>T - - MYO6_000016 Heterozygous PubMed: Choi et al., 2013 - rs557441143 Germline - - - - - DNA SEQ, SEQ-NG-S - - DFNA1 SH21-50 PubMed: Choi 2013 proband F - Korea - - - - - 1 Anne-Françoise Roux
+?/? 8 c.614G>A r.(?) p.(Arg205Gln) Motor domain (57-771) Paternal (inferred) ACMG VUS g.76550362G>A g.75840645G>A - - MYO6_000009 heterozygous, {MSV3dQ9UM54:p.(Arg205Gln)} PubMed: Miyagawa et al., 2013 - - Germline - 1/144 controls - - - DNA SEQ, SEQ-NG-S - - DFNA1 - PubMed: Miyagawa et al., 2013 proband F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.614G>A r.(?) p.(Arg205Gln) Motor domain (57-771) Maternal (inferred) ACMG VUS g.76550362G>A g.75840645G>A - - MYO6_000009 heterozygous, {MSV3dQ9UM54:p.(Arg205Gln)} PubMed: Kwon et al., 2014 - - Germline - 0/200 controls - - - DNA SEQ - - DFNA1 - PubMed: Kwon et al., 2014 proband F - Korea - - - - - 1 Anne-Françoise Roux
+?/? 8 c.647A>T r.(?) p.(Glu216Val) Motor domain (57-771) Both (homozygous) ACMG VUS g.76550395A>T g.75840678A>T - - MYO6_000004 homozygous, {MSV3dQ9UM54:p.Glu216Val} PubMed: Ahmed et al., 2003 - rs121912559 Germline - 0/540 controls - - - DNA SEQ - - DFNB - PubMed: Ahmed et al., 2003 proband M - Pakistan - - - - - 1 Anne-Françoise Roux
?/. - c.667G>A r.(?) p.(Gly223Arg) - Unknown ACMG VUS g.76550946G>A g.75841229G>A - - MYO6_000115 ACMG PM2, PP3 PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HL SB290-582 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
+?/? 9 c.734A>G r.(?) p.(Tyr245Cys) Motor domain (57-771) Unknown ACMG VUS g.76551013A>G g.75841296A>G - - MYO6_000021 heterozygous, {MSV3dQ9UM54:p.(Tyr245Cys)} PubMed: Yang et al., 2013 - - Germline - 0/400 controls - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Yang et al., 2013 proband - - China - - - - - 1 Anne-Françoise Roux
+?/? 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) Unknown ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - - - DNA SEQ - - DFNA1 - PubMed: Mohiddin et al., 2004 proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) Unknown ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - - - DNA SEQ - - DFNA1 - PubMed: Mohiddin et al., 2004 relative M - - - - - - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) Unknown ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - - - DNA SEQ - - DFNA1 - PubMed: Mohiddin et al., 2004 relative M - - - - - - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) Unknown ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - - - DNA SEQ - - DFNA1 - PubMed: Mohiddin et al., 2004 relative M - - - - - - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) Unknown ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - - - DNA SEQ - - DFNA1 - PubMed: Mohiddin et al., 2004 relative F - - - - - - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) Unknown ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - - - DNA SEQ - - DFNA1 - PubMed: Mohiddin et al., 2004 relative F - - - - - - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) Unknown ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - - - DNA SEQ - - DFNA1 - PubMed: Mohiddin et al., 2004 relative F - - - - - - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) Unknown ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - - - DNA SEQ - - DFNA1 - PubMed: Mohiddin et al., 2004 relative M - - - - - - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) Unknown ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - - - DNA SEQ - - DFNA1 - PubMed: Mohiddin et al., 2004 relative F - - - - - - - 1 Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) Unknown ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - - - DNA SEQ - - DFNA1 - PubMed: Mohiddin et al., 2004 relative F - - - - - - - 1 Anne-Françoise Roux
?/. - c.806A>G r.(?) p.(Asp269Gly) - Unknown - VUS g.76551085A>G - - - MYO6_000145 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.862_865del r.(?) p.(Asp288Asnfs*18) Motor domain (57-771) Unknown - pathogenic g.76554659_76554662del g.75844942_75844945del - - MYO6_000019 Heterozygous PubMed: Shearer et al., 2010 - - Germline - 0/270 controls - - - DNA SEQ-NG-S - - DFNA1 - PubMed: Shearer et al., 2010 proband - - - - - - - - 1 Anne-Françoise Roux
+/. - c.866_869del r.(?) p.(Lys289ArgfsTer17) - Unknown - pathogenic (dominant) g.76554663_76554666del g.75844946_75844949del - - MYO6_000065 - PubMed: Boucher 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - HL PAR062 PubMed: Boucher 2020 - - - France - - - - - 1 Johan den Dunnen
+?/? 10 c.897G>T r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771) Both (homozygous) ACMG VUS g.76554694G>T g.75844977G>T splice mutation - MYO6_000010 homozygous PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - - - DNA SEQ, SEQ-NG-S - - DFNA1 - PubMed: Brownstein et al., 2014 proband - homozygous for semi-dominant mutation F - Palestine - - - - - 1 Anne-Françoise Roux
+?/? 10 c.897G>T r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771) Paternal (confirmed) ACMG VUS g.76554694G>T g.75844977G>T splice mutation - MYO6_000010 Heterozygous PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - - - DNA SEQ - - DFNA1 - PubMed: Brownstein et al., 2014 relative M - Palestine - - - - - 1 Anne-Françoise Roux
+?/? 10 c.897G>T r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771) Paternal (confirmed) ACMG VUS g.76554694G>T g.75844977G>T splice mutation - MYO6_000010 Heterozygous PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - - - DNA SEQ - - DFNA1 - PubMed: Brownstein et al., 2014 relative F - Palestine - - - - - 1 Anne-Françoise Roux
+?/? 10 c.897G>T r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771) Paternal (confirmed) ACMG VUS g.76554694G>T g.75844977G>T splice mutation - MYO6_000010 Heterozygous PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - - - DNA SEQ - - DFNA1 - PubMed: Brownstein et al., 2014 relative M - Palestine - - - - - 1 Anne-Françoise Roux
+?/? 10 c.897G>T r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771) Unknown ACMG VUS g.76554694G>T g.75844977G>T splice mutation - MYO6_000010 Heterozygous PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - - - DNA SEQ - - DFNA1 - PubMed: Brownstein et al., 2014 relative M - Palestine - - - - - 1 Anne-Françoise Roux
-?/. - c.966G>A r.(?) p.(=) - Unknown - likely benign g.76558136G>A - - - MYO6_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 11 c.1015C>T r.(?) p.(Arg339Trp) Motor domain (57-771) Unknown ACMG VUS g.76558185C>T g.75848468C>T - - MYO6_000022 heterozygous, {MSV3dQ9UM54:p.(Arg339Trp)} PubMed: Yang et al., 2013 - - Germline - 0/400 controls - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Yang et al., 2013 proband - - China - - - - - 1 Anne-Françoise Roux
-?/. - c.1025C>T r.(?) p.(Ala342Val) - Unknown - likely benign g.76558195C>T g.75848478C>T MYO6(NM_004999.3):c.1025C>T (p.A342V), MYO6(NM_004999.4):c.1025C>T (p.A342V) - MYO6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1025C>T r.(?) p.(Ala342Val) - Unknown - likely benign g.76558195C>T g.75848478C>T MYO6(NM_004999.3):c.1025C>T (p.A342V), MYO6(NM_004999.4):c.1025C>T (p.A342V) - MYO6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1025C>T r.(?) p.(Ala342Val) - Unknown - likely benign g.76558195C>T g.75848478C>T MYO6(NM_004999.3):c.1025C>T (p.A342V), MYO6(NM_004999.4):c.1025C>T (p.A342V) - MYO6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1030G>A r.(?) p.(Val344Ile) - Unknown - VUS g.76558200G>A - - - MYO6_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1043G>A r.(?) p.(Gly348Glu) - Unknown - VUS g.76558213G>A - - - MYO6_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1058A>T r.(?) p.(Glu353Val) - Unknown - likely benign g.76558228A>T - MYO6(NM_004999.3):c.1058A>T (p.(Glu353Val)) - MYO6_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1108C>T r.(?) p.(Gln370*) - Unknown - pathogenic g.76564885C>T - - - MYO6_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1144G>A r.(?) p.(Asp382Asn) - Unknown - likely benign g.76564921G>A - MYO6(NM_004999.3):c.1144G>A (p.D382N) - MYO6_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1176A>G r.(?) p.(Thr392=) - Unknown - benign g.76564953A>G g.75855236A>G - - MYO6_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.1211del r.(?) p.(Gly404fs) - Parent #1 - likely pathogenic g.76564988del g.75855271del - - MYO6_000031 MYO6 mutation explains phenotype, better than CHD23 mutations, segregation analysis needed PubMed: Neveling 2013 - - Unknown ? - - - - DNA SEQ - - ?, MD - PubMed: Neveling 2013 - - - - - - - - - 1 Marcel Nelen
+?/. 12 c.1211del r.(?) p.(Gly404Glufs*4) - Parent #1 - likely pathogenic g.76564988del g.75855271del - - MYO6_000031 - 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.1220T>C r.(?) p.(Ile407Thr) - Unknown - VUS g.76564997T>C g.75855280T>C MYO6(NM_004999.3):c.1220T>C (p.I407T) - MYO6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1224-4A>G r.spl? p.? - Unknown - likely benign g.76566810A>G g.75857093A>G MYO6(NM_004999.3):c.1224-4A>G - MYO6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1255G>A r.(?) p.(Ala419Thr) - Unknown - VUS g.76566845G>A - - - MYO6_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1258C>T r.(?) p.(Arg420Cys) - Unknown ACMG VUS g.76566848C>T g.75857131C>T - - MYO6_000119 ACMG PM2, PM3_P, PP3 PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HL SB427-829 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
?/. - c.1259G>A r.(?) p.(Arg420His) - Unknown - VUS g.76566849G>A - - - MYO6_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1286G>T r.(?) p.(Ser429Ile) - Unknown - VUS g.76566876G>T - - - MYO6_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1296T>G r.(?) p.(Phe432Leu) - Unknown - VUS g.76566886T>G g.75857169T>G - - MYO6_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1300C>G r.(?) p.(His434Asp) - Unknown - VUS g.76566890C>G - MYO6(NM_004999.3):c.1300C>G (p.H434D) - MYO6_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) Maternal (confirmed) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - - - DNA SEQ - - DFNA1 - PubMed: Melchionda et al., 2001 proband M - Italy - - - - - 1 Anne-Françoise Roux
+?/? 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) Maternal (confirmed) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - - - DNA SEQ - - DFNA1 - PubMed: Melchionda et al., 2001 relative F - Italy - - - - - 1 Anne-Françoise Roux
+/+ 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) Maternal (confirmed) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - - - DNA SEQ - - DFNA1 - PubMed: Melchionda et al., 2001 relative M - Italy - - - - - 1 Anne-Françoise Roux
+/+ 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) Maternal (confirmed) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - - - DNA SEQ - - DFNA1 - PubMed: Melchionda et al., 2001 relative F - Italy - - - - - 1 Anne-Françoise Roux
+/+ 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) Maternal (confirmed) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - - - DNA SEQ - - DFNA1 - PubMed: Melchionda et al., 2001 relative F - Italy - - - - - 1 Anne-Françoise Roux
+/+ 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) Maternal (confirmed) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - - - DNA SEQ - - DFNA1 - PubMed: Melchionda et al., 2001 relative F - Italy - - - - - 1 Anne-Françoise Roux
+/+ 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) Maternal (confirmed) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - - - DNA SEQ - - DFNA1 - PubMed: Melchionda et al., 2001 relative M - Italy - - - - - 1 Anne-Françoise Roux
+/+ 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) Paternal (inferred) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - - - DNA SEQ - - DFNA1 - PubMed: Melchionda et al., 2001 relative F - Italy - - - - - 1 Anne-Françoise Roux
+/+ 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) Paternal (inferred) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - - - DNA SEQ - - DFNA1 - PubMed: Melchionda et al., 2001 relative F - Italy - - - - - 1 Anne-Françoise Roux
-?/. - c.1347C>T r.(?) p.(Ser449=) - Unknown - likely benign g.76566937C>T - MYO6(NM_004999.4):c.1347C>T (p.S449=) - MYO6_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1398C>G r.(?) p.(Asn466Lys) - Unknown - VUS g.76568635C>G g.75858918C>G MYO6(NM_004999.3):c.1398C>G (p.N466K) - MYO6_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1415G>C r.(?) p.(Cys472Ser) - Unknown - likely pathogenic (dominant) g.76568652G>C g.75858935G>C - - MYO6_000148 - PubMed: Boucher 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - HL 6505 PubMed: Boucher 2020 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.1465C>G r.(?) p.(Leu489Val) - Unknown - likely pathogenic (dominant) g.76568702C>G g.75858985C>G - - MYO6_000149 - PubMed: Boucher 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - HL PAR013 PubMed: Boucher 2020 family, 2 affected - - France - - - - - 2 Johan den Dunnen
+/. 14_14i c.1473_1473+2delinsC r.1382_1473del p.Glu461GlyfsTer13 - Maternal (inferred) - pathogenic g.76568710_76568712delinsC g.75858993_75858995delinsC 1473_1475del3insC - MYO6_000032 0/299 controls PMID: 33111345 236034 - Germline yes 1/177 patients - - - DNA SEQ-NG-I blood - DFNA22 - - - - no Israel Jewish-Ashkenazi - - - - 3 Zippi Brownstein
+?/. - c.1479_1480insTCCTAAAATGATTATTTCATTTTAG r.(?) p.(Glu494Serfs*2) - Unknown - likely pathogenic g.76570745_76570746insTCCTAAAATGATTATTTCATTTTAG - - - MYO6_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 15i c.1546+1G>T r.spl p.? - Parent #1 - likely pathogenic g.76570813G>T g.75861096G>T - - MYO6_000030 - PubMed: Neveling 2013 - - Unknown ? - - - - DNA SEQ - - ? - PubMed: Neveling 2013 - - - - - - - - - 1 Marcel Nelen
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