Unique 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.

100 entries on 1 page. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. 1 - c.-2750123_*190520del - r.0? p.0? - g.73709065_76815249del - - - KHDC3L_000005 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
+?/? 1 2 c.26C>T UV3 (ACMG: 3) r.(=) p.(Ala9Val) - g.76527290C>T - - - MYO6_000023 heterozygous, {MSV3dQ9UM54:p.Ala9Val} PubMed: Baux, Vaché et al., 2017 - rs199508553 Germline - - - - - Anne-Françoise Roux
+/+ 6 2 c.36dup pathogenic r.(?) p.(Thr13Tyrfs*20) - g.76527300dup - 36-37insT - MYO6_000002 homozygous PubMed: Ahmed et al., 2003 - - Germline - 0/200 controls - - - Anne-Françoise Roux
+?/. 1 - c.37del likely pathogenic r.(?) p.(Thr13Glnfs*17) - g.76527301del - - - MYO6_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 3 c.163A>G - r.(?) p.(Ser55Gly) - g.76532544A>G g.75822827A>G - - MYO6_000033 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - Manou Sommen
?/. 1 - c.178G>C VUS r.(?) p.(Glu60Gln) - g.76532559G>C - MYO6(NM_004999.3):c.178G>C (p.E60Q) - MYO6_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.188-1G>A pathogenic r.spl? p.? - g.76538256G>A - - - MYO6_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.212C>T likely benign, VUS r.(?) p.(Ala71Val) - g.76538281C>T - MYO6(NM_004999.3):c.212C>T (p.A71V) - MYO6_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
+?/. 1 - c.238C>T - r.(?) p.(Arg80*) - g.76538307C>T g.75828590C>T - - MYO6_000102 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs727504567 Germline - 1/2792 individuals - - - Mohammed Faruq
?/. 1 5 c.271G>A - r.(?) p.(Ala91Thr) - g.76540142G>A g.75830425G>A - - MYO6_000037 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - Mieke Wesdorp
?/. 1 - c.373C>T VUS r.(?) p.(Pro125Ser) - g.76540244C>T - - - MYO6_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.406C>A likely benign r.(?) p.(=) - g.76542573C>A - MYO6(NM_004999.3):c.406C>A (p.R136=) - MYO6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.406C>T likely pathogenic r.(?) p.(Arg136*) - g.76542573C>T - - - MYO6_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.431G>A VUS r.(?) p.(Ser144Asn) - g.76542598G>A - MYO6(NM_004999.3):c.431G>A (p.S144N) - MYO6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.456del pathogenic r.(?) p.(Glu152Aspfs*14) - g.76542623del - - - MYO6_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., ?/. 2 - c.457T>C pathogenic, VUS r.(?) p.(Ser153Pro) - g.76542624T>C - MYO6(NM_004999.3):c.457T>C (p.S153P) - MYO6_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 - c.553+11T>C benign r.(=) p.(=) - g.76545684T>C - - - MYO6_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 6 6i c.554-1G>A pathogenic r.? p.? - g.76550301G>A - splice mutation - MYO6_000020 Heterozygous PubMed: Volk et al., 2013 - - Germline - 0/180 controls - - - Anne-Françoise Roux
?/., +?/. 2 8 c.584C>A VUS r.(?) p.(Ala195Glu) - g.76550332C>A g.75840615C>A - - MYO6_000038 VKGL data sharing initiative Nederland PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Mieke Wesdorp
?/. 1 8 c.608G>A - r.(?) p.(Ser203Asn) - g.76550356G>A g.75840639G>A - - MYO6_000034 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - Manou Sommen
+/+ 2 8 c.613C>T pathogenic r.(?) p.(Arg205*) Motor domain (57-771) g.76550361C>T - - - MYO6_000016 Heterozygous PubMed: Choi et al., 2013 - rs557441143 Germline - - - - - Anne-Françoise Roux
+?/? 2 8 c.614G>A UV3 (ACMG: 3) r.(?) p.(Arg205Gln) Motor domain (57-771) g.76550362G>A - - - MYO6_000009 heterozygous, {MSV3dQ9UM54:p.(Arg205Gln)} PubMed: Miyagawa et al., 2013, PubMed: Kwon et al., 2014 - - Germline - 1/144 controls, 0/200 controls - - - Anne-Françoise Roux
+?/? 1 8 c.647A>T UV3 (ACMG: 3) r.(?) p.(Glu216Val) Motor domain (57-771) g.76550395A>T - - - MYO6_000004 homozygous, {MSV3dQ9UM54:p.Glu216Val} PubMed: Ahmed et al., 2003 - rs121912559 Germline - 0/540 controls - - - Anne-Françoise Roux
+?/? 1 9 c.734A>G UV3 (ACMG: 3) r.(?) p.(Tyr245Cys) Motor domain (57-771) g.76551013A>G - - - MYO6_000021 heterozygous, {MSV3dQ9UM54:p.(Tyr245Cys)} PubMed: Yang et al., 2013 - - Germline - 0/400 controls - - - Anne-Françoise Roux
+?/?, +/+ 10 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771) g.76551016A>G - - - MYO6_000005 heterozygous, {MSV3dQ9UM54:p.His246Arg} PubMed: Mohiddin et al., 2004 - rs121912560 Germline - 0/702 controls - - - Anne-Françoise Roux
+/+ 1 10 c.862_865del pathogenic r.(?) p.(Asp288Asnfs*18) Motor domain (57-771) g.76554659_76554662del - - - MYO6_000019 Heterozygous PubMed: Shearer et al., 2010 - - Germline - 0/270 controls - - - Anne-Françoise Roux
+?/? 5 10 c.897G>T UV3 (ACMG: 3) r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771) g.76554694G>T - splice mutation - MYO6_000010 homozygous, Heterozygous PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - - - Anne-Françoise Roux
+?/? 1 11 c.1015C>T UV3 (ACMG: 3) r.(?) p.(Arg339Trp) Motor domain (57-771) g.76558185C>T - - - MYO6_000022 heterozygous, {MSV3dQ9UM54:p.(Arg339Trp)} PubMed: Yang et al., 2013 - - Germline - 0/400 controls - - - Anne-Françoise Roux
-?/. 3 - c.1025C>T likely benign r.(?) p.(Ala342Val) - g.76558195C>T - MYO6(NM_004999.3):c.1025C>T (p.A342V) - MYO6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.1176A>G benign r.(?) p.(=) - g.76564953A>G - - - MYO6_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/?, +?/. 2 12 c.1211del - r.(?) p.(Gly404fs), p.(Gly404Glufs*4) - g.76564988del g.75855271del - - MYO6_000031 MYO6 mutation explains phenotype, better than CHD23 mutations, segregation analysis needed PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Unknown, Germline ? - - - - Marcel Nelen, Mieke Wesdorp
?/. 1 - c.1220T>C VUS r.(?) p.(Ile407Thr) - g.76564997T>C - MYO6(NM_004999.3):c.1220T>C (p.I407T) - MYO6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1224-4A>G likely benign r.spl? p.? - g.76566810A>G - MYO6(NM_004999.3):c.1224-4A>G - MYO6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1296T>G VUS r.(?) p.(Phe432Leu) - g.76566886T>G - - - MYO6_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/?, +/+ 9 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771) g.76566915G>A - - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - - - Anne-Françoise Roux
?/. 1 - c.1398C>G VUS r.(?) p.(Asn466Lys) - g.76568635C>G - MYO6(NM_004999.3):c.1398C>G (p.N466K) - MYO6_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 14 c.1473_1475delinsC - r.spl? p.? - g.76568710_76568712del3insC - 1473_1475del3insC - MYO6_000032 0/299 controls - - - Germline yes 1/177 patients - - - Zippi Brownstein
+?/?, +/., +?/. 3 15i c.1546+1G>T pathogenic r.spl, r.spl? p.? - g.76570813G>T g.75861096G>T - - MYO6_000030 VKGL data sharing initiative Nederland PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Unknown, CLASSIFICATION record, Germline ?, yes - - - - Marcel Nelen, VKGL-NL_Nijmegen, Mieke Wesdorp
?/. 1 - c.1617T>G VUS r.(?) p.(Ser539Arg) - g.76572383T>G - - - MYO6_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1625_1626del pathogenic r.(?) p.(His542Leufs*22) - g.76572391_76572392del - MYO6(NM_004999.3):c.1625_1626delAC (p.H542Lfs*22) - MYO6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1703A>G VUS r.(?) p.(His568Arg) - g.76576271A>G - - - MYO6_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1722C>T benign r.(?) p.(=) - g.76576290C>T - - - MYO6_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1733T>A VUS r.(?) p.(Ile578Asn) - g.76576301T>A - MYO6(NM_004999.3):c.1733T>A (p.I578N) - MYO6_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1753G>T VUS r.(?) p.(Ala585Ser) - g.76576321G>T - - - MYO6_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1767A>G likely benign r.(?) p.(=) - g.76576335A>G - - - MYO6_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 18 c.1897del - r.(?) p.(Gln633Lysfs*19) - g.76576775del g.75867058del - - MYO6_000039 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - Mieke Wesdorp
-?/. 1 - c.1903G>A likely benign r.(?) p.(Ala635Thr) - g.76576781G>A - - - MYO6_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1926C>T likely benign r.(?) p.(=) - g.76576804C>T - MYO6(NM_004999.3):c.1926C>T (p.S642=) - MYO6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 4 19 c.1975C>T pathogenic r.(?) p.(Arg659*) Motor domain (57-771) g.76580394C>T - - - MYO6_000008 Heterozygous, VKGL data sharing initiative Nederland PubMed: Miyagawa et al., 2013 - - Germline, CLASSIFICATION record - 1/144 controls - - - Anne-Françoise Roux, VKGL-NL_Nijmegen
?/. 1 - c.1999C>T VUS r.(?) p.(Arg667Cys) - g.76582939C>T - - - MYO6_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2345A>G VUS r.(?) p.(Lys782Arg) - g.76591464A>G - - - MYO6_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.2416+5G>A likely pathogenic r.spl? p.? - g.76591540G>A - - - MYO6_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 2 23i c.IVS23+2321T>G pathogenic r.[=,2286_2287insNG_009934.1:g.139947_140054] p.(Phe763Trpfs*6) Motor domain (57-771) g.76593856T>G - - - MYO6_000006 Heterozygous PubMed: Hilgert et al., 2008 - - Germline - 0/278 controls - - - Anne-Françoise Roux
?/. 1 - c.2449T>G VUS r.(?) p.(Cys817Gly) - g.76595753T>G - - - MYO6_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 24 c.2473C>T pathogenic r.(?) p.(Arg825*) IQ (814-834) g.76595777C>T - - - MYO6_000012 Heterozygous PubMed: Kwon et al., 2014 - - Germline - 0/200 controls - - - Anne-Françoise Roux
-?/. 2 - c.2534C>T likely benign r.(?) p.(Thr845Ile) - g.76596587C>T - MYO6(NM_004999.3):c.2534C>T (p.T845I) - MYO6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
+?/? 2 25 c.2545C>T UV3 (ACMG: 3) r.(?) p.(Arg849*) - g.76596598C>T - - - MYO6_000007 Heterozygous, significant phenotypic variation in the family PubMed: Sanggaard et al., 2008 - rs121912561 Germline - 0/384 controls - - - Anne-Françoise Roux
-?/. 1 - c.2572A>C likely benign r.(?) p.(Ser858Arg) - g.76596625A>C - - - MYO6_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.2658+2T>A likely pathogenic r.spl? p.? - g.76596713T>A - - - MYO6_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.2658+17C>T benign r.(=) p.(=) - g.76596728C>T - MYO6(NM_004999.3):c.2658+17C>T - MYO6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
?/. 1 26 c.2742_2743insGA - r.(?) p.(Lys915Glufs*13) - g.76599857_76599858insGA g.75890140_75890141insGA - - MYO6_000035 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - Manou Sommen
+?/. 1 - c.2751dup likely pathogenic r.(?) p.(Gln918Thrfs*24) - g.76599866dup - - - MYO6_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 26 c.2753dup pathogenic r.(?) p.(Gln919Alafs*23) - g.76599868dup - 2752insA and as p.Q918fs*941 - MYO6_000014 Heterozygous PubMed: Kwon et al., 2014 - - Germline - 0/200 controls - - - Anne-Françoise Roux
+/. 2 - c.2761G>T pathogenic r.(?) p.(Glu921*) - g.76599876G>T - MYO6(NM_004999.3):c.2761G>T (p.E921*) - MYO6_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/? 1 26 c.2775G>C Likely Pathogenic r.(?) p.(Arg925Ser) - g.76599890G>C - - - MYO6_000089 - - - - Germline yes - - - - Viviana Karina Dalamón
+?/? 2 26 c.2777T>A UV3 (ACMG: 3) r.(?) p.(Leu926Gln) - g.76599892T>A - - - MYO6_000011 homozygous, {MSV3dQ9UM54:p.(Leu926Gln)} PubMed: Brownstein et al., 2014 - - Germline - 0/200 controls - - - Anne-Françoise Roux
?/. 1 - c.2789A>C VUS r.(?) p.(Gln930Pro) - g.76599904A>C - - - MYO6_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 4 26 c.2814_2815del pathogenic r.(?) p.(Arg939Thrfs*2) - g.76599929_76599930del - - - MYO6_000018 Heterozygous PubMed: Cheng et al., 2014 - - Germline - - - - - Anne-Françoise Roux
-?/., ?/. 2 - c.2818C>T likely benign, VUS r.(?) p.(Arg940Cys) - g.76599933C>T - MYO6(NM_004999.3):c.2818C>T (p.R940C) - MYO6_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/., -?/. 2 - c.2836C>T VUS, likely benign r.(?) p.(Arg946Cys) - g.76599951C>T - MYO6(NM_004999.3):c.2836C>T (p.R946C) - MYO6_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+?/+? 1 - c.2854dupG likely pathogenic r.(?) p.(Glu952Glyfs*8) - g.76599968dup - - - MYO6_000088 - - - - Unknown - - - - - Gunnar Schmidt
?/. 1 27 c.2907_2909del - r.(?) p.Glu967del - g.76600984_76600986del g.75891267_75891269del 2907_2909delAAG - MYO6_000036 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - Manou Sommen
+/+ 5 27 c.2944C>T pathogenic r.(?) p.(Gln982*) Coiled coil (964-1023) g.76601021C>T - - - MYO6_000015 Heterozygous PubMed: Yang et al., 2013 - - Germline - 0/400 controls - - - Anne-Françoise Roux
+/+ 1 28 c.2971C>T pathogenic r.(?) p.(Arg991*) Coiled coil (964-1023) g.76602271C>T - - - MYO6_000013 Heterozygous PubMed: Kwon et al., 2014 - - Germline - 0/200 controls - - - Anne-Françoise Roux
-?/. 1 - c.2982G>A likely benign r.(?) p.(=) - g.76602282G>A - MYO6(NM_004999.3):c.2982G>A (p.E994=) - MYO6_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3057T>G VUS r.(?) p.(Ser1019Arg) - g.76602357T>G - - - MYO6_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.3108-375T>G benign r.(=) p.(=) - g.76604573T>G - MYO6(NM_004999.3):c.3108-375T>G - MYO6_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.3176G>C VUS r.(?) p.(Arg1059Thr) - g.76608128G>C - - - MYO6_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.3226G>C VUS r.(?) p.(Asp1076His) - g.76617371G>C - - - MYO6_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.3265A>T VUS r.(?) p.(Ile1089Phe) - g.76617410A>T - MYO6(NM_004999.3):c.3265A>T (p.I1089F) - MYO6_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.3269A>G VUS r.(?) p.(Asn1090Ser) - g.76617414A>G - MYO6(NM_004999.3):c.3269A>G (p.N1090S) - MYO6_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht
-/. 1 - c.3333G>A benign r.(?) p.(=) - g.76618265G>A - MYO6(NM_004999.3):c.3333G>A (p.V1111=) - MYO6_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 32 c.3335A>G likely pathogenic r.(?) p.(Tyr1112Cys) - g.76618267A>G g.75908550A>G - - MYO6_000040 VKGL data sharing initiative Nederland PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline, CLASSIFICATION record - - - - - Mieke Wesdorp, VKGL-NL_Nijmegen
?/. 1 - c.3367A>G - r.(?) p.(Asn1123Asp) - g.76618299A>G g.75908582A>G - - MYO6_000103 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs189411232 Germline - 2/2788 individuals - - - Mohammed Faruq
+?/. 1 32 c.3395del - r.(?) p.(Lys1132Serfs*12) - g.76618327del g.75908610del - - MYO6_000041 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - Mieke Wesdorp
-?/. 1 - c.3420A>G likely benign r.(?) p.(=) - g.76621396A>G - MYO6(NM_004999.3):c.3420A>G (p.A1140=) - MYO6_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 5 33 c.3496C>T pathogenic r.(?) p.(Arg1166*) - g.76623836C>T - - - MYO6_000003 homozygous PubMed: Ahmed et al., 2003 - rs121912558 Germline - 0/200 controls - - - Anne-Françoise Roux
+?/., +/., +?/? 7 34 c.3610C>T pathogenic, UV3 (ACMG: 3) r.(?) p.(Arg1204Trp) - g.76623950C>T g.75914233C>T - - MYO6_000017 VKGL data sharing initiative Nederland, heterozygous, {MSV3dQ9UM54:p.(Arg1204Trp)} PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017, PubMed: Oonk et al., 2013 - - Germline, CLASSIFICATION record - 0/362 controls - - - Mieke Wesdorp, VKGL-NL_Nijmegen, Anne-Françoise Roux
-?/., ?/. 2 - c.3637C>T likely benign, VUS r.(?) p.(Pro1213Ser) - g.76623977C>T - MYO6(NM_004999.3):c.3637C>T (p.P1213S) - MYO6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-?/. 1 - c.3640C>T likely benign r.(?) p.(Pro1214Ser) - g.76623980C>T - - - MYO6_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., -/. 3 - c.3667G>A benign r.(?) p.(Asp1223Asn) - g.76624538G>A g.75914821G>A MYO6(NM_004999.3):c.3667G>A (p.D1223N) - MYO6_000056 38 heterozygous, 2 homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs41269323 Germline, CLASSIFICATION record - 40/2755 individuals - - - Mohammed Faruq, VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
?/. 1 - c.3668A>G VUS r.(?) p.(Asp1223Gly) - g.76624539A>G - - - MYO6_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.3791A>G VUS r.(?) p.(Asn1264Ser) - g.76624662A>G - MYO6(NM_004999.3):c.3791A>G (p.N1264S) - MYO6_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3814C>T VUS r.(?) p.(Arg1272Trp) - g.76624685C>T - - - MYO6_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.3816G>A likely benign r.(?) p.(=) - g.76624687G>A - MYO6(NM_004999.3):c.3816G>A (p.R1272=) - MYO6_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3829A>G VUS r.(?) p.(Thr1277Ala) - g.76624700A>G - MYO6(NM_004999.3):c.3829A>G (p.T1277A) - MYO6_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3851dup VUS r.(?) p.(Leu1284Phefs*39) - g.76624722dup - - - MYO6_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.*12C>T benign r.(=) p.(=) - g.76624741C>T - MYO6(NM_004999.3):c.*12C>T - MYO6_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-/. 1 - c.*3447A>C - r.(=) p.(=) - g.76628176A>C g.75918459A>C - - MYO6_000104 132 heterozygous, 2 homozygous; Clinindb (India) Faruq 2020, submtted - - Germline - 134/2661 individuals - - - Mohammed Faruq
-/. 2 - c.*8656C>T benign r.(=) p.(=) - g.76633385C>T - IMPG1(NM_001563.3):c.2282G>A (p.S761N) - IMPG1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
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