Unique variants in the MYOC gene


This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000261.1 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
-/. 1 1 c.26G>C r.(?) p.(Cys9Ser) - benign g.171621726C>G g.171652586C>G - - MYOC_000095 - copied from {MYO:4} - - Germline - - - - - Ivo F.A.C. Fokkema
+?/. 1 - c.136C>T r.(?) p.(Arg46*) - likely pathogenic g.171621616G>A g.171652476G>A MYOC(NM_000261.1):c.136C>T(p.R46*) - MYOC_000034 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 149 - - - LOVD
?/. 1 - c.144G>T r.(?) p.(Gln48His) - VUS g.171621608C>A g.171652468C>A MYOC(NM_000261.1):c.144G>T (p.(Gln48His)) - MYOC_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.158T>C r.(?) p.(Val53Ala) - pathogenic g.171621594A>G g.171652454A>G - - MYOC_000078 - PubMed: Huang 2014 - - Germline - - - - - LOVD
+/. 1 - c.172G>T r.(?) p.(Glu58Ter) - pathogenic g.171621580C>A - MYOC(NM_000261.1):c.172G>T (p.E58*) - MYOC_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 1 c.227G>A r.(?) p.(Arg76Lys) - likely pathogenic g.171621525C>T - c.227G>A - MYOC_000084 - PubMed: Booij-2011 - rs2234936 Germline - - - - - LOVD
+/. 1 - c.244C>T r.(?) p.(Arg82Cys) - pathogenic g.171621508G>A g.171652368G>A - - MYOC_000015 - PubMed: Huang 2014 - - Germline - - - - - LOVD
-?/. 1 - c.252C>T r.(?) p.(Asp84=) - likely benign g.171621500G>A g.171652360G>A MYOC(NM_000261.1):c.252C>T (p.D84=) - MYOC_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.271C>T r.(?) p.(Arg91Ter) - pathogenic g.171621481G>A g.171652341G>A - - MYOC_000037 - PubMed: Huang 2014 - - Germline - - - - - LOVD
-?/. 1 - c.366C>T r.(?) p.(Gly122=) - likely benign g.171621386G>A g.171652246G>A MYOC(NM_000261.1):c.366C>T (p.G122=) - MYOC_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.472C>T r.(?) p.Arg158* ACMG likely pathogenic g.171621280G>A g.171652140G>A - - MYOC_000097 ACMG grading: PM2,PVS1; lt. GeneReviews evtl. digenisch mit CYP1B1 oder rezessiv, noch unklar - - rs748152582 Germline - - - - - Andreas Laner
-?/. 1 - c.644T>C r.(?) p.(Leu215Pro) - likely benign g.171607823A>G - MYOC(NM_000261.1):c.644T>C (p.L215P) - MYOC_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.767C>T r.(?) p.(Thr256Met) - likely benign g.171605813G>A g.171636673G>A MYOC(NM_000261.1):c.767C>T (p.T256M) - MYOC_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.815G>A r.(?) p.(Arg272Gln) - VUS g.171605765C>T - MYOC(NM_000261.1):c.815G>A (p.R272Q) - MYOC_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.855G>T r.(?) p.(Thr285=) - benign g.171605725C>A g.171636585C>A MYOC(NM_000261.1):c.855G>T (p.T285=) - MYOC_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., -?/. 2 - c.878C>A r.(?) p.(Thr293Lys) - likely benign, pathogenic g.171605702G>T g.171636562G>T MYOC(NM_000261.1):c.878C>A (p.T293K) - MYOC_000022 VKGL data sharing initiative Nederland PubMed: Huang 2014 - - CLASSIFICATION record, Germline/De novo (untested) - - - - - VKGL-NL_Rotterdam
+/. 2 - c.1021T>C r.(?) p.(Ser341Pro) - pathogenic g.171605559A>G g.171636419A>G - - MYOC_000013 - PubMed: Huang 2014 - - Germline, Germline/De novo (untested) - - - - - LOVD
-?/. 2 - c.1041T>C r.(=) p.(=) - likely benign g.171605539A>G g.171636399A>G - - MYOC_000103 2 homozygous; Clinindb (India), 87 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61730974 Germline - 2/2795 individuals, 87/2795 individuals - - - Mohammed Faruq
+/. 1 - c.1041T>G r.(?) p.(Tyr347Ter) - pathogenic g.171605539A>C g.171636399A>C MYOC(NM_000261.1):c.1041T>G (p.Y347*) - MYOC_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1054G>A r.(?) p.(Glu352Lys) - VUS g.171605526C>T g.171636386C>T MYOC E352K, MYOC(NM_000261.1):c.1054G>A (p.(Glu352Lys)) - MYOC_000026 heterozygous, VKGL data sharing initiative Nederland PubMed: Fernandez-Martinez 2011 - - CLASSIFICATION record, Unknown ? - - - - VKGL-NL_Leiden
+?/., ?/. 2 - c.1058C>T r.(?) p.(Thr353Ile) - likely pathogenic, VUS g.171605522G>A g.171636382G>A c.1058G>A, p.(Thr353Ile), MYOC(NM_000261.1):c.1058C>T (p.T353I) - MYOC_000035 error in annotation: c.1058G>A instead of C>T, heterozygous, 1 more item PubMed: Wang 2019 - - CLASSIFICATION record, Germline ? - - - - VKGL-NL_Rotterdam
+/., ?/. 3 3 c.1091G>T r.(?) p.(Gly364Val) - pathogenic, VUS g.171605489C>A g.171636349C>A Gly357Val - MYOC_000002 not in 942 control chromosomes PubMed: Stone 1997, OMIM:var0002 - rs121909193 Germline - - - - - Ivo F.A.C. Fokkema
+/., +?/., ?/. 10 3 c.1102C>T r.(?) p.(Gln368*), p.(Gln368Ter) - likely pathogenic, pathogenic, VUS g.171605478G>A g.171636338G>A c.1102C-->T, c.1064A-->G; p.Gln368*, p.Asn355Ser, Gln361Stop, MYOC Q368X, 1 more item - MYOC_000003 confirmed with Sanger sequencing; heterozygous, heterozygous, control chromosoems, heterozygous, 1 more item PubMed: Craig 2001, OMIM:var0003, PubMed: Fernandez-Martinez 2011, PubMed: Patel 2019, 1 more item - rs74315329 CLASSIFICATION record, Germline, Unknown ?, yes 1/760, 3/206, 4/454 - - - Ivo F.A.C. Fokkema, VKGL-NL_Rotterdam
+/., ?/. 5 3 c.1109C>T r.(?) p.(Pro370Leu) - pathogenic, VUS g.171605471G>A g.171636331G>A - - MYOC_000007 - PubMed: Adam 1997, OMIM:var0004, PubMed: Huang 2014, PubMed: Suzuki 1997, OMIM:var0004 - rs74315330 Germline - - - - - Ivo F.A.C. Fokkema
+/. 1 - c.1130C>T r.(?) p.(Thr377Met) - pathogenic g.171605450G>A - MYOC(NM_000261.1):c.1130C>T (p.T377M) - MYOC_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1133A>G r.(?) p.(Asp378Gly) - pathogenic g.171605447T>C g.171636307T>C - - MYOC_000108 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - - - LOVD
+/. 2 - c.1160G>A r.(?) p.(Gly387Asp) - pathogenic g.171605420C>T g.171636280C>T - - MYOC_000107 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - - - LOVD
-?/. 1 - c.1193A>G r.(?) p.(Lys398Arg) - likely benign g.171605387T>C g.171636247T>C MYOC(NM_000261.1):c.1193A>G (p.K398R) - MYOC_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1196G>T r.(?) p.(Gly399Val) - pathogenic g.171605384C>A g.171636244C>A - - MYOC_000050 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28936694 Germline - 1/2795 individuals - - - Mohammed Faruq
+?/. 1 - c.1288T>C r.(?) p.(Phe430Leu) - likely pathogenic g.171605292A>G g.171636152A>G MYOC(NM_000261.1):c.1288T>C (p.F430L) - MYOC_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1290C>T r.(?) p.(Phe430=) - likely benign g.171605290G>A g.171636150G>A MYOC(NM_000261.1):c.1290C>T (p.F430=) - MYOC_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., ?/. 3 3 c.1309T>C r.(?) p.(Tyr437His) - pathogenic, VUS g.171605271A>G g.171636131A>G Tyr430His - MYOC_000001 not in 942 control chromosomes PubMed: Alward 1998, OMIM:var0001, PubMed: Stone 1997, OMIM:var0001 - rs74315328 Germline - - - - - Ivo F.A.C. Fokkema
?/. 1 - c.1310A>G r.(?) p.(Tyr437Cys) - VUS g.171605270T>C - MYOC(NM_000261.1):c.1310A>G (p.Y437C) - MYOC_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 3 c.1311C>T r.(=) p.(=) - benign g.171605269G>A g.171636129G>A Tyr430Tyr - MYOC_000004 - PubMed: Stone 1997 - - Germline - 0.025-0.065 - - - Ivo F.A.C. Fokkema
+/., ?/. 2 3 c.1430T>G r.(?) p.(Ile477Ser) - pathogenic, VUS g.171605150A>C g.171636010A>C - - MYOC_000005 - PubMed: Adam 1997, OMIM:var0005 - rs74315331 Germline - - - - - Ivo F.A.C. Fokkema
+?/. 1 - c.1432G>T r.(?) p.(Asp478Tyr) - likely pathogenic g.16464805C>T g.16138310C>T EPHA2 (NM_004431.3):c.944G>A(p.R315Q); MYOC (NM_000261.1):c.1432G>T(p.D478Y) - MYOC_000109 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 133 - - - LOVD
+/., ?/. 2 3 c.1440C>A r.(?) p.(Asn480Lys) - pathogenic, VUS g.171605140G>T g.171636000G>T - - MYOC_000006 - PubMed: Adam 1997, OMIM:var0006 - rs74315332 Germline - - - - - Ivo F.A.C. Fokkema
+/. 1 - c.1456C>T r.(?) p.(Leu486Phe) - pathogenic g.171605124G>A g.171635984G>A - - MYOC_000106 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - - - LOVD
?/. 1 - c.1480_1487del r.(?) p.(Met494LeufsTer2) - VUS g.171605095_171605102del g.171635955_171635962del MYOC(NM_000261.1):c.1480_1487del (p.(Met494LeufsTer2)) - MYOC_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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