Full data view for gene MYO5A

Information The variants shown are described using the NM_000259.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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.27+9C>T r.(=) p.(=) Unknown - likely benign g.52820968G>A - MYO5A(NM_001382347.1):c.27+9C>T - MYO5A_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.40T>G r.(?) p.(Trp14Gly) Unknown - VUS g.52725470A>C g.52433273A>C - - MYO5A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.169A>G r.(?) p.(Lys57Glu) Unknown - likely benign g.52720736T>C - MYO5A(NM_000259.3):c.169A>G (p.K57E) - MYO5A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207T>C r.(?) p.(Val69=) Unknown - likely benign g.52720698A>G g.52428501A>G MYO5A(NM_000259.3):c.207T>C (p.V69=) - MYO5A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.290A>G r.(?) p.(Lys97Arg) Unknown - VUS g.52720615T>C g.52428418T>C MYO5A(NM_000259.3):c.290A>G (p.(Lys97Arg), p.K97R) - MYO5A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.290A>G r.(?) p.(Lys97Arg) Unknown - likely benign g.52720615T>C - MYO5A(NM_000259.3):c.290A>G (p.(Lys97Arg), p.K97R) - MYO5A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.696T>C r.(?) p.(Tyr232=) Unknown - likely benign g.52702590A>G - MYO5A(NM_000259.3):c.696T>C (p.Y232=) - MYO5A_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.839-7A>G r.(=) p.(=) Unknown - benign g.52699603T>C g.52407406T>C MYO5A(NM_000259.3):c.839-7A>G - MYO5A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.839-7A>G r.(=) p.(=) Unknown - likely benign g.52699603T>C - MYO5A(NM_000259.3):c.839-7A>G - MYO5A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.989C>T r.(?) p.(Ala330Val) Unknown - VUS g.52697548G>A g.52405351G>A MYO5A(NM_000259.3):c.989C>T (p.A330V) - MYO5A_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1020T>A r.(?) p.(Phe340Leu) Unknown - VUS g.52697517A>T - MYO5A(NM_000259.3):c.1020T>A (p.F340L) - MYO5A_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1029A>C r.(?) p.(Arg343=) Unknown - benign g.52697508T>G g.52405311T>G MYO5A(NM_000259.3):c.1029A>C (p.R343=) - MYO5A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1058A>G r.(?) p.(Lys353Arg) Unknown - VUS g.52689659T>C - MYO5A(NM_001382347.1):c.1058A>G (p.(Lys353Arg)) - MYO5A_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1086= r.(=) p.(Asp362=) Unknown - benign g.52689631T>G g.52397434T>G MYO5A(NM_000259.3):c.1086A>C (p.E362D) - MYO5A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1132C>T r.(?) p.(Arg378Trp) Unknown - VUS g.52689585G>A g.52397388G>A MYO5A(NM_000259.3):c.1132C>T (p.R378W) - MYO5A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1157C>A r.(?) p.(Thr386Lys) Unknown - VUS g.52689560G>T - MYO5A(NM_001382347.1):c.1157C>A (p.(Thr386Lys)) - MYO5A_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1190C>T r.(?) p.(Thr397Met) Unknown - VUS g.52689527G>A g.52397330G>A MYO5A(NM_000259.3):c.1190C>T (p.T397M) - MYO5A_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1191= r.(=) p.(Thr397=) Unknown - benign g.52689526T>C g.52397329= MYO5A(NM_000259.3):c.1191A>G (p.T397=) - MYO5A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1259A>G r.(?) p.(Asn420Ser) Unknown - VUS g.52689458T>C g.52397261T>C MYO5A(NM_000259.3):c.1259A>G (p.N420S) - MYO5A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1368T>C r.(?) p.(Tyr456=) Unknown - likely benign g.52688546A>G - MYO5A(NM_000259.3):c.1368T>C (p.Y456=), MYO5A(NM_001382348.1):c.1440T>C (p.Y480=) - MYO5A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1368T>C r.(?) p.(Tyr456=) Unknown - likely benign g.52688546A>G - MYO5A(NM_000259.3):c.1368T>C (p.Y456=), MYO5A(NM_001382348.1):c.1440T>C (p.Y480=) - MYO5A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1543-14_1543-13delinsC r.(=) p.(=) Unknown - likely benign g.52681573_52681574delinsG g.52389376_52389377delinsG MYO5A(NM_000259.3):c.1543-18_1543-13delTTTTTTinsTTTTC - MYO5A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1543-13T>C r.(=) p.(=) Unknown - benign g.52681573A>G g.52389376A>G MYO5A(NM_000259.3):c.1543-13T>C - MYO5A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1543-6A>G r.(=) p.(=) Unknown - VUS g.52681566T>C - MYO5A(NM_001382347.1):c.1543-6A>G - MYO5A_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1639G>A r.(?) p.(Ala547Thr) Unknown - VUS g.52681464C>T g.52389267C>T MYO5A(NM_000259.3):c.1639G>A (p.(Ala547Thr)) - MYO5A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1753-18A>G r.(=) p.(=) Unknown - benign g.52676537T>C g.52384340T>C MYO5A(NM_000259.3):c.1753-18A>G - MYO5A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1764A>G r.(?) p.(Leu588=) Unknown - likely benign g.52676508T>C - MYO5A(NM_000259.3):c.1764A>G (p.L588=) - MYO5A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1880T>C r.(?) p.(Met627Thr) Unknown - likely benign g.52676392A>G g.52384195A>G MYO5A(NM_000259.3):c.1880T>C (p.(Met627Thr)) - MYO5A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2012+17C>T r.(=) p.(=) Unknown - benign g.52675271G>A g.52383074G>A MYO5A(NM_000259.3):c.2012+17C>T - MYO5A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2067C>G r.(?) p.(Thr689=) Unknown - likely benign g.52672051G>C g.52379854G>C MYO5A(NM_000259.3):c.2067C>G (p.T689=) - MYO5A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2067C>G r.(?) p.(Thr689=) Unknown - likely benign g.52672051G>C g.52379854G>C MYO5A(NM_000259.3):c.2067C>G (p.T689=) - MYO5A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2082G>A r.(?) p.(Ala694=) Unknown - likely benign g.52672036C>T g.52379839C>T MYO5A(NM_000259.3):c.2082G>A (p.A694=) - MYO5A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2082G>A r.(?) p.(Ala694=) Unknown - likely benign g.52672036C>T - MYO5A(NM_000259.3):c.2082G>A (p.A694=) - MYO5A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2085C>T r.(?) p.(Ala695=) Unknown - benign g.52672033G>A g.52379836G>A MYO5A(NM_000259.3):c.2085C>T (p.A695=) - MYO5A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2099+10G>A r.(=) p.(=) Unknown - likely benign g.52672009C>T - MYO5A(NM_001382347.1):c.2099+10G>A - MYO5A_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2329A>C r.(?) p.(Ile777Leu) Unknown - likely benign g.52668635T>G g.52376438T>G MYO5A(NM_000259.3):c.2329A>C (p.(Ile777Leu)) - MYO5A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2437C>T r.(?) p.(Arg813Cys) Unknown - likely pathogenic g.52667641G>A g.52375444G>A NM_000259.3(MYO5A):c.2437C>T p.(Arg813Cys) - MYO5A_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-755A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
?/. - c.2438G>A r.(?) p.(Arg813His) Unknown - VUS g.52667640C>T - MYO5A(NM_001382347.1):c.2438G>A (p.(Arg813His)) - MYO5A_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2526= r.(=) p.(Ile842=) Unknown - benign g.52667552G>A g.52375355G>A MYO5A(NM_000259.3):c.2526C>T (p.I842=) - MYO5A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2541C>T r.(?) p.(Tyr847=) Unknown - benign g.52667537G>A g.52375340G>A MYO5A(NM_000259.3):c.2541C>T (p.Y847=) - MYO5A_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2576A>G r.(?) p.(Lys859Arg) Unknown - VUS g.52667502T>C - MYO5A(NM_000259.3):c.2576A>G (p.K859R) - MYO5A_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2584C>T r.(?) p.(Arg862Cys) Unknown - VUS g.52664554G>A g.52372357G>A MYO5A(NM_000259.3):c.2584C>T (p.R862C) - MYO5A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2585G>A r.(?) p.(Arg862His) Unknown - likely benign g.52664553C>T g.52372356C>T MYO5A(NM_000259.3):c.2585G>A (p.(Arg862His)) - MYO5A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2621G>A r.(?) p.(Arg874Gln) Unknown - VUS g.52664517C>T g.52372320C>T - - MYO5A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2660A>G r.(?) p.(His887Arg) Unknown - VUS g.52664478T>C - MYO5A(NM_001382347.1):c.2660A>G (p.(His887Arg)) - MYO5A_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2707C>T r.(?) p.(Arg903Cys) Unknown - VUS g.52664431G>A - MYO5A(NM_000259.3):c.2707C>T (p.R903C) - MYO5A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2814G>A r.(?) p.(Glu938=) Unknown - benign g.52664324C>T g.52372127C>T MYO5A(NM_000259.3):c.2814G>A (p.E938=) - MYO5A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3131G>A r.(?) p.(Arg1044His) Unknown - likely benign g.52659257C>T g.52367060C>T MYO5A(NM_000259.3):c.3131G>A (p.(Arg1044His)) - MYO5A_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3136G>A r.(?) p.(Val1046Met) Unknown - likely benign g.52659252C>T - MYO5A(NM_000259.3):c.3136G>A (p.V1046M) - MYO5A_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3191C>T r.(?) p.(Thr1064Met) Unknown - VUS g.52656869G>A g.52364672G>A MYO5A(NM_000259.3):c.3191C>T (p.T1064M) - MYO5A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3309+18G>T r.(=) p.(=) Unknown - benign g.52656733C>A g.52364536C>A MYO5A(NM_000259.3):c.3309+18G>T - MYO5A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3358_3360del r.(?) p.(Asn1120del) Unknown - VUS g.52652229_52652231del g.52360032_52360034del MYO5A(NM_000259.3):c.3358_3360delAAC (p.N1120del) - MYO5A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3422A>T r.(?) p.(Glu1141Val) Unknown - VUS g.52652166T>A g.52359969T>A MYO5A(NM_000259.3):c.3422A>T (p.E1141V) - MYO5A_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3481C>T r.(?) p.(Arg1161Trp) Unknown - VUS g.52646154G>A - MYO5A(NM_000259.3):c.3481C>T (p.R1161W) - MYO5A_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3567+19C>T r.(=) p.(=) Unknown - benign g.52646049G>A g.52353852G>A MYO5A(NM_000259.3):c.3567+19C>T - MYO5A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3567+19C>T r.(=) p.(=) Unknown - likely benign g.52646049G>A - MYO5A(NM_000259.3):c.3567+19C>T - MYO5A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3568-4C>T r.spl? p.? Unknown - likely benign g.52645859G>A - MYO5A(NM_000259.3):c.3568-4C>T - MYO5A_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3568-4C>T r.spl? p.? Unknown - likely benign g.52645859G>A - MYO5A(NM_000259.3):c.3568-4C>T - MYO5A_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3620A>G r.(?) p.(Lys1207Arg) Unknown - VUS g.52645803T>C - MYO5A(NM_000259.3):c.3620A>G (p.K1207R) - MYO5A_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - GA1 - PubMed: Bell 2011 Coriell sample - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - epilepsy - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - GA1 - PubMed: Bell 2011 Coriell sample - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 JPT/HAN‐HapMap sample F - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Both (homozygous) - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - benign g.52643564G>A g.52351367G>A MYO5A(NM_000259.3):c.3736C>T (p.R1246C) - MYO5A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3849+7G>A r.(=) p.(=) Unknown - benign g.52643444C>T g.52351247C>T MYO5A(NM_000259.3):c.3849+7G>A - MYO5A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3850-2A>G r.spl? p.? Unknown - VUS g.52641025T>C g.52348828T>C MYO5A(NM_000259.3):c.3850-2A>G - MYO5A_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3858+9A>T r.(=) p.(=) Unknown - likely benign g.52641006T>A g.52348809T>A MYO5A(NM_000259.3):c.3858+9A>T - MYO5A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3866T>C r.(?) p.(Met1289Thr) Unknown - likely benign g.52638651A>G g.52346454A>G MYO5A(NM_000259.3):c.3866T>C (p.M1289T) - MYO5A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3959+8G>A r.(=) p.(=) Unknown - benign g.52638550C>T g.52346353C>T MYO5A(NM_000259.3):c.3959+8G>A - MYO5A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3993G>A r.(?) p.(Glu1331=) Unknown - likely benign g.52635361C>T - MYO5A(NM_000259.3):c.3993G>A (p.E1331=) - MYO5A_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4041-11C>G r.(=) p.(=) Unknown - benign g.52632602G>C g.52340405G>C MYO5A(NM_000259.3):c.4041-11C>G - MYO5A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4041G>T r.(?) p.(Arg1347Ser) Unknown - VUS g.52632591C>A - MYO5A(NM_001382347.1):c.4041G>T (p.(Arg1347Ser)) - MYO5A_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4097C>T r.(?) p.(Ala1366Val) Unknown - VUS g.52632535G>A g.52340338G>A MYO5A(NM_000259.3):c.4097C>T (p.(Ala1366Val)) - MYO5A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4158C>G r.(?) p.(Ala1386=) Unknown - likely benign g.52632474G>C - MYO5A(NM_000259.3):c.4158C>G (p.A1386=) - MYO5A_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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