All transcript variants in 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.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. - c.-2750123_*190520del r.0? p.0? - - pathogenic g.73709065_76815249del - - - KHDC3L_000005 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
+?/? 2 c.26C>T r.(=) p.(Ala9Val) - ACMG VUS g.76527290C>T g.75817573C>T - - MYO6_000023 heterozygous, {MSV3dQ9UM54:p.Ala9Val} PubMed: Baux, Vaché et al., 2017 - rs199508553 Germline - - - 0 - Anne-Françoise Roux
+/+ 2 c.36dup r.(?) p.(Thr13Tyrfs*20) - - pathogenic g.76527300dup g.75817583dup 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
+/+ 2 c.36dup r.(?) p.(Thr13Tyrfs*20) - - pathogenic g.76527300dup g.75817583dup 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
+/+ 2 c.36dup r.(?) p.(Thr13Tyrfs*20) - - pathogenic g.76527300dup g.75817583dup 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
+/+ 2 c.36dup r.(?) p.(Thr13Tyrfs*20) - - pathogenic g.76527300dup g.75817583dup 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
+/+ 2 c.36dup r.(?) p.(Thr13Tyrfs*20) - - pathogenic g.76527300dup g.75817583dup 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
+/+ 2 c.36dup r.(?) p.(Thr13Tyrfs*20) - - pathogenic g.76527300dup g.75817583dup 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
+?/. - c.37del r.(?) p.(Thr13GlnfsTer17) - - likely pathogenic g.76527301del g.75817584del - - MYO6_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 3 c.163A>G r.(?) p.(Ser55Gly) - - VUS g.76532544A>G g.75822827A>G - - MYO6_000033 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - 0 - Manou Sommen
?/. - c.178G>C r.(?) p.(Glu60Gln) - - 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 - - - - - VKGL-NL_Rotterdam
+/. - c.188-1G>A r.spl? p.? - - pathogenic g.76538256G>A g.75828539G>A - - MYO6_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.212C>T r.(?) p.(Ala71Val) - - 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 - - - 0 - VKGL-NL_Nijmegen
?/. - c.212C>T r.(?) p.(Ala71Val) - - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.214A>G r.(?) p.(Thr72Ala) - - VUS g.76538283A>G - - - chr6_007368 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.238C>T r.(?) p.(Arg80*) - - likely pathogenic g.76538307C>T g.75828590C>T - - MYO6_000102 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs727504567 Germline - 1/2793 individuals - 0 - Mohammed Faruq
?/. 5 c.271G>A r.(?) p.(Ala91Thr) - - VUS g.76540142G>A g.75830425G>A - - MYO6_000037 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - 0 - Mieke Wesdorp
?/. - c.373C>T r.(?) p.(Pro125Ser) - - VUS g.76540244C>T g.75830527C>T - - MYO6_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.406C>A r.(?) p.(Arg136=) - - 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 - - - 0 - VKGL-NL_Rotterdam
+?/. - c.406C>T r.(?) p.(Arg136Ter) - - likely pathogenic g.76542573C>T g.75832856C>T - - MYO6_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.431G>A r.(?) p.(Ser144Asn) - - 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 - - - 0 - VKGL-NL_Rotterdam
+/. - c.456del r.(?) p.(Glu152AspfsTer14) - - pathogenic g.76542623del g.75832906del - - MYO6_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.457T>C r.(?) p.(Ser153Pro) - - pathogenic g.76542624T>C g.75832907T>C MYO6(NM_004999.3):c.457T>C (p.S153P) - MYO6_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.457T>C r.(?) p.(Ser153Pro) - - VUS g.76542624T>C g.75832907T>C MYO6(NM_004999.3):c.457T>C (p.S153P) - MYO6_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.553+11T>C r.(=) p.(=) - - benign g.76545684T>C g.75835967T>C - - MYO6_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 6i c.554-1G>A r.spl? p.? - - pathogenic g.76550301G>A g.75840584G>A splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - 0 - Anne-Françoise Roux
+/+ 6i c.554-1G>A r.spl? p.? - - pathogenic g.76550301G>A g.75840584G>A splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - 0 - Anne-Françoise Roux
+/+ 6i c.554-1G>A r.spl? p.? - - pathogenic g.76550301G>A g.75840584G>A splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - 0 - Anne-Françoise Roux
+/+ 6i c.554-1G>A r.spl? p.? - - pathogenic g.76550301G>A g.75840584G>A splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - 0 - Anne-Françoise Roux
+/+ 6i c.554-1G>A r.spl? p.? - - pathogenic g.76550301G>A g.75840584G>A splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - 0 - Anne-Françoise Roux
+/+ 6i c.554-1G>A r.spl? p.? - - pathogenic g.76550301G>A g.75840584G>A splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - 0 - Anne-Françoise Roux
+?/. 8 c.584C>A r.(?) p.(Ala195Glu) - - likely pathogenic g.76550332C>A g.75840615C>A - - MYO6_000038 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - 0 - Mieke Wesdorp
?/. - c.584C>A r.(?) p.(Ala195Glu) - - VUS g.76550332C>A g.75840615C>A - - MYO6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 8 c.608G>A r.(?) p.(Ser203Asn) - - VUS g.76550356G>A g.75840639G>A - - MYO6_000034 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - 0 - Manou Sommen
+/+ 8 c.613C>T r.(?) p.(Arg205*) Motor domain (57-771) - pathogenic g.76550361C>T g.75840644C>T - - MYO6_000016 Heterozygous PubMed: Choi et al., 2013 - rs557441143 Germline - - - 0 - Anne-Françoise Roux
+/+ 8 c.613C>T r.(?) p.(Arg205*) Motor domain (57-771) - pathogenic g.76550361C>T g.75840644C>T - - MYO6_000016 Heterozygous PubMed: Choi et al., 2013 - rs557441143 Germline - - - 0 - Anne-Françoise Roux
+?/? 8 c.614G>A r.(?) p.(Arg205Gln) Motor domain (57-771) ACMG VUS g.76550362G>A g.75840645G>A - - MYO6_000009 heterozygous, {MSV3dQ9UM54:p.(Arg205Gln)} PubMed: Miyagawa et al., 2013 - - Germline - 1/144 controls - 0 - Anne-Françoise Roux
+?/? 8 c.614G>A r.(?) p.(Arg205Gln) Motor domain (57-771) ACMG VUS g.76550362G>A g.75840645G>A - - MYO6_000009 heterozygous, {MSV3dQ9UM54:p.(Arg205Gln)} PubMed: Kwon et al., 2014 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
+?/? 8 c.647A>T r.(?) p.(Glu216Val) Motor domain (57-771) ACMG VUS g.76550395A>T g.75840678A>T - - MYO6_000004 homozygous, {MSV3dQ9UM54:p.Glu216Val} PubMed: Ahmed et al., 2003 - rs121912559 Germline - 0/540 controls - 0 - Anne-Françoise Roux
+?/? 9 c.734A>G r.(?) p.(Tyr245Cys) Motor domain (57-771) ACMG VUS g.76551013A>G g.75841296A>G - - MYO6_000021 heterozygous, {MSV3dQ9UM54:p.(Tyr245Cys)} PubMed: Yang et al., 2013 - - Germline - 0/400 controls - 0 - Anne-Françoise Roux
+?/? 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - Anne-Françoise Roux
+/+ 9 c.737A>G r.(?) p.(His246Arg) Motor domain (57-771) ACMG VUS g.76551016A>G g.75841299A>G - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - 0 - Anne-Françoise Roux
+/+ 10 c.862_865del r.(?) p.(Asp288Asnfs*18) Motor domain (57-771) - pathogenic g.76554659_76554662del g.75844942_75844945del - - MYO6_000019 Heterozygous PubMed: Shearer et al., 2010 - - Germline - 0/270 controls - 0 - Anne-Françoise Roux
+?/? 10 c.897G>T r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771) ACMG VUS g.76554694G>T g.75844977G>T splice mutation - MYO6_000010 homozygous PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
+?/? 10 c.897G>T r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771) ACMG VUS g.76554694G>T g.75844977G>T splice mutation - MYO6_000010 Heterozygous PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
+?/? 10 c.897G>T r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771) ACMG VUS g.76554694G>T g.75844977G>T splice mutation - MYO6_000010 Heterozygous PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
+?/? 10 c.897G>T r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771) ACMG VUS g.76554694G>T g.75844977G>T splice mutation - MYO6_000010 Heterozygous PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
+?/? 10 c.897G>T r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771) ACMG VUS g.76554694G>T g.75844977G>T splice mutation - MYO6_000010 Heterozygous PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux
+?/? 11 c.1015C>T r.(?) p.(Arg339Trp) Motor domain (57-771) ACMG VUS g.76558185C>T g.75848468C>T - - MYO6_000022 heterozygous, {MSV3dQ9UM54:p.(Arg339Trp)} PubMed: Yang et al., 2013 - - Germline - 0/400 controls - 0 - Anne-Françoise Roux
-?/. - c.1025C>T r.(?) p.(Ala342Val) - - likely benign g.76558195C>T g.75848478C>T MYO6(NM_004999.3):c.1025C>T (p.A342V) - MYO6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1025C>T r.(?) p.(Ala342Val) - - likely benign g.76558195C>T g.75848478C>T MYO6(NM_004999.3):c.1025C>T (p.A342V) - MYO6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1025C>T r.(?) p.(Ala342Val) - - likely benign g.76558195C>T g.75848478C>T MYO6(NM_004999.3):c.1025C>T (p.A342V) - MYO6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1176A>G r.(?) p.(Thr392=) - - benign g.76564953A>G g.75855236A>G - - MYO6_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/? 12 c.1211del r.(?) p.(Gly404fs) - - likely pathogenic g.76564988del g.75855271del - - MYO6_000031 MYO6 mutation explains phenotype, better than CHD23 mutations, segregation analysis needed - - - Unknown ? - - 0 - Marcel Nelen
+?/. 12 c.1211del r.(?) p.(Gly404Glufs*4) - - likely pathogenic g.76564988del g.75855271del - - MYO6_000031 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - 0 - Mieke Wesdorp
?/. - c.1220T>C r.(?) p.(Ile407Thr) - - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1224-4A>G r.spl? p.? - - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.1286G>T r.(?) p.(Ser429Ile) - - VUS g.76566876G>T - - - chr6_007369 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1296T>G r.(?) p.(Phe432Leu) - - VUS g.76566886T>G g.75857169T>G - - MYO6_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1300C>G r.(?) p.(His434Asp) - - VUS g.76566890C>G - MYO6(NM_004999.3):c.1300C>G (p.H434D) - MYO6_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - Anne-Françoise Roux
+?/? 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - Anne-Françoise Roux
+/+ 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - Anne-Françoise Roux
+/+ 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - Anne-Françoise Roux
+/+ 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - Anne-Françoise Roux
+/+ 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - Anne-Françoise Roux
+/+ 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - Anne-Françoise Roux
+/+ 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - Anne-Françoise Roux
+/+ 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771) ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - Anne-Françoise Roux
-?/. - c.1347C>T r.(?) p.(Ser449=) - - likely benign g.76566937C>T - MYO6(NM_004999.3):c.1347C>T (p.S449=) - chr6_007370 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1398C>G r.(?) p.(Asn466Lys) - - 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 - - - - - VKGL-NL_Rotterdam
+/. 14 c.1473_1475delinsC r.spl? p.? - - pathogenic g.76568710_76568712del3insC - 1473_1475del3insC - MYO6_000032 0/299 controls Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Germline yes 1/177 patients - 0 - Zippi Brownstein
+?/? 15i c.1546+1G>T r.spl p.? - - likely pathogenic g.76570813G>T g.75861096G>T - - MYO6_000030 - - - - Unknown ? - - 0 - Marcel Nelen
+?/. 15i c.1546+1G>T r.spl p.? - - likely pathogenic g.76570813G>T g.75861096G>T - - MYO6_000030 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline yes - - 0 - Mieke Wesdorp
+/. - c.1546+1G>T r.spl? p.? - - pathogenic g.76570813G>T g.75861096G>T - - MYO6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1617T>G r.(?) p.(Ser539Arg) - - VUS g.76572383T>G g.75862666T>G - - MYO6_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1625_1626del r.(?) p.(His542LeufsTer22) - - pathogenic g.76572391_76572392del g.75862674_75862675del MYO6(NM_004999.3):c.1625_1626delAC (p.H542Lfs*22) - MYO6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1703A>G r.(?) p.(His568Arg) - - likely benign g.76576271A>G g.75866554A>G - - MYO6_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1722C>T r.(?) p.(Asp574=) - - benign g.76576290C>T g.75866573C>T - - MYO6_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1733T>A r.(?) p.(Ile578Asn) - - VUS g.76576301T>A g.75866584T>A MYO6(NM_004999.3):c.1733T>A (p.I578N) - MYO6_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1753G>T r.(?) p.(Ala585Ser) - - VUS g.76576321G>T g.75866604G>T - - MYO6_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1767A>G r.(?) p.(Glu589=) - - likely benign g.76576335A>G g.75866618A>G - - MYO6_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 18 c.1897del r.(?) p.(Gln633Lysfs*19) - - likely pathogenic g.76576775del g.75867058del - - MYO6_000039 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - 0 - Mieke Wesdorp
-?/. - c.1903G>A r.(?) p.(Ala635Thr) - - likely benign g.76576781G>A g.75867064G>A - - MYO6_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1926C>T r.(?) p.(Ser642=) - - likely benign g.76576804C>T g.75867087C>T MYO6(NM_004999.3):c.1926C>T (p.S642=) - MYO6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 19 c.1975C>T r.(?) p.(Arg659*) Motor domain (57-771) - pathogenic g.76580394C>T g.75870677C>T - - MYO6_000008 Heterozygous PubMed: Miyagawa et al., 2013 - - Germline - 1/144 controls - 0 - Anne-Françoise Roux
+/+ 19 c.1975C>T r.(?) p.(Arg659*) Motor domain (57-771) - pathogenic g.76580394C>T g.75870677C>T - - MYO6_000008 Heterozygous PubMed: Miyagawa et al., 2013 - - Germline - 1/144 controls - 0 - Anne-Françoise Roux
+/+ 19 c.1975C>T r.(?) p.(Arg659*) Motor domain (57-771) - pathogenic g.76580394C>T g.75870677C>T - - MYO6_000008 Heterozygous PubMed: Miyagawa et al., 2013 - - Germline - 1/144 controls - 0 - Anne-Françoise Roux
+/. - c.1975C>T r.(?) p.(Arg659Ter) - - pathogenic g.76580394C>T g.75870677C>T - - MYO6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1999C>T r.(?) p.(Arg667Cys) - - VUS g.76582939C>T g.75873222C>T - - MYO6_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.2345A>G r.(?) p.(Lys782Arg) - - VUS g.76591464A>G g.75881747A>G - - MYO6_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.2416+5G>A r.spl? p.? - - likely pathogenic g.76591540G>A g.75881823G>A - - MYO6_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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