Full data view for gene MYOC


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.

64 entries on 1 page. Showing entries 1 - 64.
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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     
-/. 1 c.26G>C r.(?) p.(Cys9Ser) Unknown - benign g.171621726C>G g.171652586C>G - - MYOC_000095 - copied from {MYO:4} - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Ivo F.A.C. Fokkema
+?/. - c.136C>T r.(?) p.(Arg46*) Unknown - 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 - 0 - DNA SEQ-NG-I blood - ? WHP49 PubMed: Sun 2018 - M - China - - 0 - - 1 LOVD
?/. - c.144G>T r.(?) p.(Gln48His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.158T>C r.(?) p.(Val53Ala) Parent #1 - pathogenic g.171621594A>G g.171652454A>G - - MYOC_000078 - PubMed: Huang 2014 - - Germline - - - 0 - DNA SEQ-NG - WES glaucoma G485 PubMed: Huang 2014 - M - China - - 0 - - 1 LOVD
+/. - c.172G>T r.(?) p.(Glu58Ter) Unknown - pathogenic g.171621580C>A - MYOC(NM_000261.1):c.172G>T (p.E58*) - MYOC_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.227G>A r.(?) p.(Arg76Lys) Unknown - likely pathogenic g.171621525C>T - c.227G>A - MYOC_000084 - PubMed: Booij-2011 - rs2234936 Germline - - - 0 - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - 0 - - 1 LOVD
+/. - c.244C>T r.(?) p.(Arg82Cys) Parent #1 - pathogenic g.171621508G>A g.171652368G>A - - MYOC_000015 - PubMed: Huang 2014 - - Germline - - - 0 - DNA SEQ-NG - WES glaucoma G542 PubMed: Huang 2014 - M - China - - 0 - - 1 LOVD
-?/. - c.252C>T r.(?) p.(Asp84=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.271C>T r.(?) p.(Arg91Ter) Parent #1 - pathogenic g.171621481G>A g.171652341G>A - - MYOC_000037 - PubMed: Huang 2014 - - Germline - - - 0 - DNA SEQ - - glaucoma G473 PubMed: Huang 2014 - F - China - - 0 - - 1 LOVD
-?/. - c.366C>T r.(?) p.(Gly122=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.472C>T r.(?) p.Arg158* Unknown 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 - - - 0 - DNA SEQ-NG - - - - - - M - Germany - - 0 - - 1 Andreas Laner
-?/. - c.644T>C r.(?) p.(Leu215Pro) Unknown - likely benign g.171607823A>G - MYOC(NM_000261.1):c.644T>C (p.L215P) - MYOC_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.767C>T r.(?) p.(Thr256Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.815G>A r.(?) p.(Arg272Gln) Unknown - VUS g.171605765C>T - MYOC(NM_000261.1):c.815G>A (p.R272Q) - MYOC_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.855G>T r.(?) p.(Thr285=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.878C>A r.(?) p.(Thr293Lys) Unknown - likely benign g.171605702G>T - MYOC(NM_000261.1):c.878C>A (p.T293K) - MYOC_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.878C>A r.(?) p.(Thr293Lys) Parent #1 - pathogenic g.171605702G>T g.171636562G>T - - MYOC_000022 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - WES glaucoma G571 PubMed: Huang 2014 - F - China - - 0 - - 1 LOVD
+/. - c.1021T>C r.(?) p.(Ser341Pro) Parent #1 - pathogenic g.171605559A>G g.171636419A>G - - MYOC_000013 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - glaucoma G127 PubMed: Huang 2014 - F - China - - 0 - - 1 LOVD
+/. - c.1021T>C r.(?) p.(Ser341Pro) Parent #1 - pathogenic g.171605559A>G g.171636419A>G - - MYOC_000013 - PubMed: Huang 2014 - - Germline - - - 0 - DNA SEQ-NG - WES glaucoma G366 PubMed: Huang 2014 - F - China - - 0 - - 1 LOVD
-?/. - c.1041T>C r.(=) p.(=) Parent #1 - likely benign g.171605539A>G g.171636399A>G - - MYOC_000103 87 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61730974 Germline - 87/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 87 Mohammed Faruq
-?/. - c.1041T>C r.(=) p.(=) Both (homozygous) - likely benign g.171605539A>G g.171636399A>G - - MYOC_000103 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61730974 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+/. - c.1041T>G r.(?) p.(Tyr347Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1054G>A r.(?) p.(Glu352Lys) Unknown - VUS g.171605526C>T g.171636386C>T MYOC(NM_000261.1):c.1054G>A (p.(Glu352Lys)) - MYOC_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1054G>A r.(?) p.(Glu352Lys) Unknown - VUS g.171605526C>T g.171636386C>T MYOC E352K - MYOC_000026 heterozygous PubMed: Fernandez-Martinez 2011 - - Unknown ? - - 0 - DNA SEQ - - retinal disease 10033 PubMed: Fernandez-Martinez 2011 - ? - - - - 0 - - 1 LOVD
+?/. - c.1058C>T r.(?) p.(Thr353Ile) Unknown - likely pathogenic g.171605522G>A g.171636382G>A c.1058G>A, p.(Thr353Ile) - MYOC_000035 error in annotation: c.1058G>A instead of C>T, heterozygous PubMed: Wang 2019 - - Germline ? - - 0 - DNA SEQ-NG blood panel of 126 genes ? 14222 PubMed: Wang 2019 - M - China - - 0 - - 1 LOVD
?/. - c.1058C>T r.(?) p.(Thr353Ile) Unknown - VUS g.171605522G>A - MYOC(NM_000261.1):c.1058C>T (p.T353I) - MYOC_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.1091G>T r.(?) p.(Gly364Val) Unknown - VUS g.171605489C>A g.171636349C>A - - MYOC_000002 - - - rs121909193 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Ivo F.A.C. Fokkema
+/. 3 c.1091G>T r.(?) p.(Gly364Val) Parent #1 - pathogenic g.171605489C>A g.171636349C>A Gly357Val - MYOC_000002 not in 942 control chromosomes PubMed: Stone 1997, OMIM:var0002 - - Germline - - - 0 - DNA SEQ, SSCA - - GLC1A - - large family, ? affecteds - - United States - - 0 - - 1 Ivo F.A.C. Fokkema
+/. 3 c.1091G>T r.(?) p.(Gly364Val) Parent #1 - pathogenic g.171605489C>A g.171636349C>A Gly357Val - MYOC_000002 not in 942 control chromosomes PubMed: Stone 1997, OMIM:var0002 - - Germline - - - 0 - DNA SEQ, SSCA - - GLC1A - - large family, 15 affecteds - - United States - - 0 - - 1 Ivo F.A.C. Fokkema
?/. 3 c.1102C>T r.(?) p.(Gln368*) Unknown - VUS g.171605478G>A g.171636338G>A - - MYOC_000003 - - - rs74315329 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Ivo F.A.C. Fokkema
+/. 3 c.1102C>T r.(?) p.(Gln368*) Parent #1 - pathogenic g.171605478G>A g.171636338G>A Gln361Stop - MYOC_000003 - PubMed: Craig 2001, OMIM:var0003 - - Germline - - - 0 - DNA SEQ - - GLC1A - - - - - Australia - - 0 - - 1 Ivo F.A.C. Fokkema
+/. 3 c.1102C>T r.(?) p.(Gln368*) Parent #1 - pathogenic g.171605478G>A g.171636338G>A Gln361Stop - MYOC_000003 - PubMed: Stone 1997, OMIM:var0003 - - Germline - - - 0 - DNA SEQ, SSCA - - GLC1A - - large family, ? affecteds - - United States - - 0 - - 1 Ivo F.A.C. Fokkema
+/. 3 c.1102C>T r.(?) p.(Gln368*) Parent #1 - pathogenic g.171605478G>A g.171636338G>A Gln361Stop - MYOC_000003 - PubMed: Stone 1997, OMIM:var0003 - - Germline - - - 0 - DNA SEQ, SSCA - - GLC1A - - large family, ? affecteds - - United States - - 0 - - 1 Ivo F.A.C. Fokkema
+/. 3 c.1102C>T r.(?) p.(Gln368*) Parent #1 - pathogenic g.171605478G>A g.171636338G>A Gln361Stop - MYOC_000003 - PubMed: Stone 1997, OMIM:var0003 - - Germline - 4/454 - 0 - DNA SEQ, SSCA - - glaucoma - - 227 patients with familial glaucoma - yes United States - - 0 - - 1 Ivo F.A.C. Fokkema
+/. 3 c.1102C>T r.(?) p.(Gln368*) Parent #1 - pathogenic g.171605478G>A g.171636338G>A Gln361Stop - MYOC_000003 - PubMed: Stone 1997, OMIM:var0003 - - Germline - 3/206 - 0 - DNA SEQ, SSCA - - GLC1A - - 103 patients with unselected glaucoma - - United States - - 0 - - 1 Ivo F.A.C. Fokkema
+/. 3 c.1102C>T r.(?) p.(Gln368*) Parent #1 - pathogenic g.171605478G>A g.171636338G>A Gln361Stop - MYOC_000003 control chromosoems PubMed: Stone 1997, OMIM:var0003 - - Germline - 1/760 - 0 - DNA SEQ, SSCA - - ? - - 380 individials general population - - United States - - 0 - - 1 Ivo F.A.C. Fokkema
+/. - c.1102C>T r.(?) p.(Gln368Ter) Unknown - pathogenic g.171605478G>A g.171636338G>A MYOC(NM_000261.1):c.1102C>T (p.Q368*) - MYOC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1102C>T r.(?) p.(Gln368*) Paternal (confirmed) - likely pathogenic g.171605478G>A g.171636338G>A c.1102C-->T, c.1064A-->G; p.Gln368*, p.Asn355Ser - MYOC_000003 confirmed with Sanger sequencing; heterozygous, heterozygous PubMed: Patel 2019 - - Germline yes - - 0 - DNA SEQ-NG, SEQ blood - OCA2 74 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - 0 - - 1 LOVD
?/. - c.1102C>T r.(?) p.(Gln368Ter) Unknown - VUS g.171605478G>A g.171636338G>A MYOC Q368X - MYOC_000003 heterozygous PubMed: Fernandez-Martinez 2011 - - Unknown ? - - 0 - DNA SEQ - - retinal disease 99168 PubMed: Fernandez-Martinez 2011 - ? - - - - 0 - - 1 LOVD
?/. 3 c.1109C>T r.(?) p.(Pro370Leu) Unknown - VUS g.171605471G>A g.171636331G>A - - MYOC_000007 - - - rs74315330 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Ivo F.A.C. Fokkema
+/. 3 c.1109C>T r.(?) p.(Pro370Leu) Parent #1 - pathogenic g.171605471G>A g.171636331G>A - - MYOC_000007 - PubMed: Adam 1997, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - GLC1A - - large family, 4 affecteds - - France - - 0 - - 1 Ivo F.A.C. Fokkema
+/. 3 c.1109C>T r.(?) p.(Pro370Leu) Parent #1 - pathogenic g.171605471G>A g.171636331G>A - - MYOC_000007 - PubMed: Adam 1997, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - GLC1A - - large family, 10 affecteds - - France - - 0 - - 1 Ivo F.A.C. Fokkema
+/. 3 c.1109C>T r.(?) p.(Pro370Leu) Parent #1 - pathogenic g.171605471G>A g.171636331G>A - - MYOC_000007 - PubMed: Suzuki 1997, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - GLC1A - - affected father and daugther - - Japan - - 0 - - 1 Ivo F.A.C. Fokkema
+/. - c.1109C>T r.(?) p.(Pro370Leu) Parent #1 - pathogenic g.171605471G>A g.171636331G>A - - MYOC_000007 - PubMed: Huang 2014 - - Germline - - - 0 - DNA SEQ-NG - WES glaucoma G360 PubMed: Huang 2014 - F - China - - 0 - - 1 LOVD
+/. - c.1130C>T r.(?) p.(Thr377Met) Unknown - pathogenic g.171605450G>A - MYOC(NM_000261.1):c.1130C>T (p.T377M) - MYOC_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1133A>G r.(?) p.(Asp378Gly) Parent #1 - pathogenic g.171605447T>C g.171636307T>C - - MYOC_000108 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - glaucoma G336 PubMed: Huang 2014 - M - China - - 0 - - 1 LOVD
+/. - c.1160G>A r.(?) p.(Gly387Asp) Parent #1 - pathogenic g.171605420C>T g.171636280C>T - - MYOC_000107 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - glaucoma G346 PubMed: Huang 2014 - M - China - - 0 - - 1 LOVD
+/. - c.1160G>A r.(?) p.(Gly387Asp) Parent #1 - pathogenic g.171605420C>T g.171636280C>T - - MYOC_000107 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - glaucoma G719 PubMed: Huang 2014 - M - China - - 0 - - 1 LOVD
-?/. - c.1193A>G r.(?) p.(Lys398Arg) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1196G>T r.(?) p.(Gly399Val) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+?/. - c.1288T>C r.(?) p.(Phe430Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1290C>T r.(?) p.(Phe430=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.1309T>C r.(?) p.(Tyr437His) Unknown - VUS g.171605271A>G g.171636131A>G - - MYOC_000001 - - - rs74315328 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Ivo F.A.C. Fokkema
+/. 3 c.1309T>C r.(?) p.(Tyr437His) Parent #1 - pathogenic g.171605271A>G g.171636131A>G Tyr430His - MYOC_000001 not in 942 control chromosomes PubMed: Stone 1997, OMIM:var0001 - - Germline - - - 0 - DNA SEQ, SSCA - - GLC1A - PubMed: Sheffield 1993 large family, 22 affecteds - - United States - - 0 - - 1 Ivo F.A.C. Fokkema
+/. 3 c.1309T>C r.(?) p.(Tyr437His) Parent #1 - pathogenic g.171605271A>G g.171636131A>G Tyr430His - MYOC_000001 - PubMed: Alward 1998, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - GLC1A - - 2 families, 27 affecteds - - - - - 0 - - 1 Ivo F.A.C. Fokkema
?/. - c.1310A>G r.(?) p.(Tyr437Cys) Unknown - VUS g.171605270T>C - MYOC(NM_000261.1):c.1310A>G (p.Y437C) - MYOC_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.1311C>T r.(=) p.(=) Unknown - benign g.171605269G>A g.171636129G>A Tyr430Tyr - MYOC_000004 - PubMed: Stone 1997 - - Germline - 0.025-0.065 - 0 - DNA SEQ, SSCA - - ? - - - - - United States - - 0 - - 1 Ivo F.A.C. Fokkema
?/. 3 c.1430T>G r.(?) p.(Ile477Ser) Unknown - VUS g.171605150A>C g.171636010A>C - - MYOC_000005 - - - rs74315331 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Ivo F.A.C. Fokkema
+/. 3 c.1430T>G r.(?) p.(Ile477Ser) Parent #1 - pathogenic g.171605150A>C g.171636010A>C - - MYOC_000005 - PubMed: Adam 1997, OMIM:var0005 - - Germline - - - 0 - DNA SEQ - - GLC1A - - large family, 20 affecteds, 10 healthy carriers - - France - - 0 - - 1 Ivo F.A.C. Fokkema
+?/. - c.1432G>T r.(?) p.(Asp478Tyr) Unknown - 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 - 0 - DNA SEQ-NG-I blood - ? WHP33 PubMed: Sun 2018 - M - China - - 0 - - 1 LOVD
?/. 3 c.1440C>A r.(?) p.(Asn480Lys) Unknown - VUS g.171605140G>T g.171636000G>T - - MYOC_000006 - - - rs74315332 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Ivo F.A.C. Fokkema
+/. 3 c.1440C>A r.(?) p.(Asn480Lys) Parent #1 - pathogenic g.171605140G>T g.171636000G>T - - MYOC_000006 - PubMed: Adam 1997, OMIM:var0006 - - Germline - - - 0 - DNA SEQ - - GLC1A - - - - - France - - 0 - - 1 Ivo F.A.C. Fokkema
+/. - c.1456C>T r.(?) p.(Leu486Phe) Parent #1 - pathogenic g.171605124G>A g.171635984G>A - - MYOC_000106 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - WES glaucoma G60 PubMed: Huang 2014 - M - China - - 0 - - 1 LOVD
?/. - c.1480_1487del r.(?) p.(Met494LeufsTer2) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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