Full data view for gene OCA2

Information The variants shown are described using the NM_000275.2 transcript reference sequence.

103 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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_19i c.-85112_2080-26697del r.0 p.0 Unknown - pathogenic g.28143765_28429460del g.27898619_28184314del - - HERC2_000000 - - - - Germline yes - - 0 - DNA arrayCGH - - ? - - - M yes France African - 0 - - 1 Morice-Picard
+?/. _1 c.-21270T>C r.(=) p.(=) Both (homozygous) - association g.28365618A>G g.28120472A>G - - HERC2_000042 effects regulation OCA2 gene PubMed: Eiberg 2008, Journal: Eiberg 2008 - rs12913832 Germline - - - 0 - DNA SEQ - - ? 18172690 blue eyes PubMed: Eiberg 2008, Journal: Eiberg 2008 - - - Denmark - - - - - 150 Pieter Klap
+?/. _1 c.-21270T>C r.(=) p.(=) Parent #1 - association g.28365618A>G g.28120472A>G - - HERC2_000042 affects regulation OCA2 gene PubMed: Eiberg 2008, Journal: Eiberg 2008 - rs12913832 Germline - MAF/MinorAlleleCount: G=0.1773/888 (1000 Genomes) - 0 - DNA SEQ - - Healthy/Control 18172690 brown eyes PubMed: Eiberg 2008, Journal: Eiberg 2008 - - - Denmark - - - - - 46 Pieter Klap
?/. - c.29G>A r.(?) p.(Arg10Gln) Unknown - VUS g.28326992C>T g.28081846C>T OCA2(NM_000275.2):c.29G>A (p.R10Q) - OCA2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.36C>T r.(?) p.(Pro12=) Unknown - benign g.28326985G>A g.28081839G>A OCA2(NM_000275.2):c.36C>T (p.P12=) - OCA2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.45G>A r.(?) p.(Pro15=) Unknown - likely benign g.28326976C>T g.28081830C>T OCA2(NM_000275.2):c.45G>A (p.P15=) - OCA2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.58C>T r.(?) p.(Leu20=) Unknown - likely benign g.28326963G>A g.28081817G>A OCA2(NM_000275.2):c.58C>T (p.L20=) - OCA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.79G>A r.(?) p.(Gly27Arg) Unknown - benign g.28326942C>T g.28081796C>T OCA2(NM_000275.2):c.79G>A (p.G27R) - OCA2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.157del r.(?) p.(Arg53Glyfs*49) Unknown - likely pathogenic g.28326864del g.28081718del - - OCA2_000003 - PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - - Unknown - - - 0 - DNA SEQ - - OCA-2 25455140 OCA_04 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >21y 0 - - 1 Pieter Klap
+/. - c.157del r.(?) p.(Arg53GlyfsTer49) Unknown - pathogenic g.28326864del g.28081718del - - OCA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.163del r.(?) p.(Ala55LeufsTer47) Unknown - pathogenic g.28326863del g.28081717del OCA2(NM_000275.2):c.163delG (p.A55Lfs*47) - OCA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.163del r.(?) p.(Ala55LeufsTer47) Unknown - pathogenic g.28326863del g.28081717del OCA2(NM_000275.2):c.163delG (p.A55Lfs*47) - OCA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.163del r.(?) p.(Ala55LeufsTer47) Unknown - pathogenic g.28326863del g.28081717del OCA2(NM_000275.2):c.163delG (p.A55Lfs*47) - OCA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.216C>G r.(?) p.(Leu72=) Unknown - benign g.28326805G>C g.28081659G>C OCA2(NM_000275.2):c.216C>G (p.L72=) - OCA2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.316del r.(?) p.(Gln106ArgfsTer35) Unknown - pathogenic g.28277221del - OCA2(NM_000275.2):c.316delC (p.Q106Rfs*35) - OCA2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.403G>T r.(?) p.(Glu135*) Unknown - pathogenic g.28273129C>A g.28027983C>A - - OCA2_000005 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - OCA-2 - - - - - Germany - - 0 - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.492C>T r.(?) p.(Ile164=) Unknown - likely benign g.28273040G>A g.28027894G>A OCA2(NM_000275.2):c.492C>T (p.I164=) - OCA2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.515+10C>G r.(=) p.(=) Unknown - likely benign g.28273007G>C - OCA2(NM_000275.2):c.515+10C>G - OCA2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.516-3C>G r.spl? p.? Unknown - VUS g.28270051G>C - OCA2(NM_000275.2):c.516-3C>G - OCA2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.574-19A>G r.(=) p.(=) Parent #1 - VUS g.28267738T>C g.28022592T>C - - OCA2_000061 conflicting interpretations of pathogenicity; 36 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145242923 Germline - 36/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 36 Mohammed Faruq
?/. - c.593C>T r.(?) p.(Pro198Leu) Unknown - VUS g.28267700G>A - OCA2(NM_000275.2):c.593C>T (p.P198L) - OCA2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.632C>T r.(?) p.(Pro211Leu) Unknown - likely pathogenic g.28267661G>A g.28022515G>A OCA2(NM_000275.2):c.632C>T (p.P211L) - OCA2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.632C>T r.(?) p.(Pro211Leu) Unknown - VUS g.28267661G>A g.28022515G>A OCA2(NM_000275.2):c.632C>T (p.P211L) - OCA2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.647-4C>T r.spl? p.? Unknown - likely benign g.28263707G>A g.28018561G>A OCA2(NM_000275.2):c.647-4C>T - OCA2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.678G>A r.(?) p.(Thr226=) Unknown - benign g.28263672C>T g.28018526C>T OCA2(NM_000275.2):c.678G>A (p.T226=) - OCA2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.696G>C r.(?) p.(Leu232=) Unknown - benign g.28263654C>G g.28018508C>G OCA2(NM_000275.2):c.696G>C (p.L232=) - OCA2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.727C>T r.(?) p.(Arg243Cys) Unknown - VUS g.28263623G>A g.28018477G>A OCA2(NM_000275.2):c.727C>T (p.R243C) - OCA2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.751G>A r.(?) p.(Val251Met) Unknown - likely benign g.28263599C>T g.28018453C>T OCA2(NM_000275.2):c.751G>A (p.V251M) - OCA2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.868A>G r.(?) p.(Arg290Gly) Unknown - likely pathogenic g.28261272T>C g.28016126T>C OCA2(NM_000275.2):c.868A>G (p.R290G) - OCA2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.898dup r.(?) p.(Val300GlyfsTer49) Unknown - pathogenic g.28260069dup g.28014923dup OCA2(NM_000275.2):c.898dupG (p.V300Gfs*49) - OCA2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.913C>T r.(?) p.(Arg305Trp) Maternal (confirmed) - likely pathogenic g.28260053G>A g.28014907G>A - - OCA2_000001 - PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - rs1800401 Germline - MAF/MinorAlleleCount: A=0.0656/7851 (ExAC); A=0.0825/413 (1000 Genomes); A=0.0781/1016 (GO-ESP) - 0 - DNA SEQ - - OCA-1A 25455140 OCA_22 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >16y 0 - - 1 Pieter Klap
+?/. 9 c.913C>T r.(?) p.(Arg305Trp) Unknown - likely pathogenic g.28260053G>A g.28014907G>A - - OCA2_000001 - PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - rs1800401 Unknown - MAF/MinorAlleleCount: A=0.0656/7851 (ExAC); A=0.0825/413 (1000 Genomes); A=0.0781/1016 (GO-ESP) - 0 - DNA SEQ - - OCA-1A 25455140 OCA_07 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >52y 0 - - 1 Pieter Klap
+?/. 9 c.913C>T r.(?) p.(Arg305Trp) Both (homozygous) - likely pathogenic g.28260053G>A g.28014907G>A - - OCA2_000001 - PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - rs1800401 Unknown - MAF/MinorAlleleCount: A=0.0656/7851 (ExAC); A=0.0825/413 (1000 Genomes); A=0.0781/1016 (GO-ESP) - 0 - DNA SEQ - - OCA-2 25455140 OCA_17 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >56y 0 - - 1 Pieter Klap
-/. - c.913C>T r.(?) p.(Arg305Trp) Unknown - benign g.28260053G>A g.28014907G>A OCA2(NM_000275.2):c.913C>T (p.R305W) - OCA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1007C>T r.(?) p.(Ala336Val) Unknown - benign g.28259959G>A g.28014813G>A OCA2(NM_000275.2):c.1007C>T (p.A336V) - OCA2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1020C>T r.(?) p.(Gly340=) Unknown - likely benign g.28259946G>A g.28014800G>A OCA2(NM_000275.2):c.1020C>T (p.G340=) - OCA2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1025A>G r.(?) p.(Tyr342Cys) Unknown - VUS g.28259941T>C g.28014795T>C OCA2(NM_000275.2):c.1025A>G (p.Y342C) - OCA2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1025A>G r.(?) p.(Tyr342Cys) Unknown - VUS g.28259941T>C - OCA2(NM_000275.2):c.1025A>G (p.Y342C) - OCA2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1026C>T r.(?) p.(Tyr342=) Unknown - benign g.28259940G>A g.28014794G>A OCA2(NM_000275.2):c.1026C>T (p.Y342=) - OCA2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1065G>A r.(?) p.(Ala355=) Unknown - benign g.28235773C>T g.27990627C>T OCA2(NM_000275.2):c.1065G>A (p.A355=) - OCA2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1103C>T r.(?) p.(Ala368Val) Unknown - VUS g.28235735G>A g.27990589G>A OCA2(NM_000275.2):c.1103C>T (p.A368V) - OCA2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1117-17T>C r.(=) p.(=) Unknown - VUS g.28234829A>G g.27989683A>G OCA2(NM_000275.2):c.1117-17T>C - OCA2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1182+18C>T r.(=) p.(=) Unknown - benign g.28234729G>A g.27989583G>A OCA2(NM_000275.2):c.1182+18C>T - OCA2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1183-4A>G r.spl? p.? Unknown - benign g.28231793T>C g.27986647T>C OCA2(NM_000275.2):c.1183-4A>G - OCA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1211C>T r.(?) p.(Thr404Met) Unknown - likely pathogenic g.28231761G>A g.27986615G>A OCA2(NM_000275.2):c.1211C>T (p.T404M) - OCA2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1211C>T r.(?) p.(Thr404Met) Parent #1 - likely pathogenic g.28231761G>A g.27986615G>A - - OCA2_000015 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144812594 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
+/. 12 c.1228_1231del r.(?) p.(Cys410Leufs*2) Unknown - VUS g.28231741_28231744del g.27986595_27986598del 1228_1231delTGTG - OCA2_000004 - - - - Germline - - - 0 - DNA SEQ - - OCA-2 - - - - - Germany - - 0 - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-/. - c.1256G>A r.(?) p.(Arg419Gln) Unknown - benign g.28230318C>T g.27985172C>T OCA2(NM_000275.2):c.1256G>A (p.R419Q) - OCA2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1261C>T r.(?) p.(Arg421Trp) Unknown - VUS g.28230313G>A g.27985167G>A OCA2(NM_000275.2):c.1261C>T (p.R421W) - OCA2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1268G>A r.(?) p.(Trp423Ter) Unknown - pathogenic g.28230306C>T - OCA2(NM_000275.2):c.1268G>A (p.W423*) - OCA2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1303G>A r.(?) p.(Val435Ile) Unknown - likely benign g.28230271C>T g.27985125C>T OCA2(NM_000275.2):c.1303G>A (p.V435I) - OCA2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1320G>C r.(?) p.(Leu440Phe) Unknown - VUS g.28230254C>G g.27985108C>G - - OCA2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1327G>A r.(?) p.(Val443Ile) Unknown - pathogenic g.28230247C>T g.27985101C>T OCA2(NM_000275.2):c.1327G>A (p.V443I) - OCA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1327G>A r.(?) p.(Val443Ile) Unknown - pathogenic g.28230247C>T g.27985101C>T OCA2(NM_000275.2):c.1327G>A (p.V443I) - OCA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1327G>A r.(?) p.(Val443Ile) Unknown - likely pathogenic g.28230247C>T g.27985101C>T OCA2(NM_000275.2):c.1327G>A (p.V443I) - OCA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1327G>A r.(?) p.(Val443Ile) Unknown ACMG likely pathogenic g.28230247C>T g.27985101C>T - - OCA2_000013 ACMG grading: PP1,PP5,PS3,PM3; reported in Lee 1994. NEJM 330: 529; Andersen 2016. Mol Genet Genomic Med 4: 420; Zhang 2013. Zhonghua Yi Xue Yi Chuan Xue Za Zh 30: 318; Bellono 2014. Elife 16: 4543; Hutton 2008. Invest Ophthalmol Vis Sci 49: 868 - - rs121918166 Germline - - - 0 - DNA SEQ-NG-S - - - - - - F - - - - 0 - - 1 Andreas Laner
+?/. - c.1327G>A r.(?) p.(Val443Ile) Unknown ACMG likely pathogenic g.28230247C>T g.27985101C>T - - OCA2_000013 ACMG: PM1,PM2,PM3,PP5; no second causative variant detected in OCA2; Lee et al. 1994. NEJM 330: 529; Andersen et al. 2016. Mol Genet Genomic Med 4: 420; Zhang et al. 2013. Zhonghua Yi Xue Yi Chuan Xue Za Zh 30: 318; Bellono et al. 2014. Elife 16: 4543; Hutton et al. 2008. Invest Ophthalmol Vis Sci 49: 868 - - rs121918166 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - - - - 0 - - 1 Andreas Laner
+?/. - c.1327G>A r.(?) p.(Val443Ile) Unknown ACMG likely pathogenic g.28230247C>T g.27985101C>T - - OCA2_000013 ACMG grading: PS1,PS3,PM2,PP3; Deng et al. 1993. Science 261: 1047; Fujisawa et al. 2012. Ann Neurol 72: 739; Marjanovi? et al. 2017. J Neurol 264: 1091 - - rs121918166 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - Germany - - 0 - - 1 Andreas Laner
+?/. - c.1327G>A r.(?) p.(Val443Ile) Parent #1 - likely pathogenic g.28230247C>T - - - OCA2_000013 - PubMed: Holtan 2020 - - Germline - 2/899 cases - 0 - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - 2 Global Variome, with Curator vacancy
+?/. - c.1327G>A r.(?) p.(Val443Ile) Paternal (confirmed) - likely pathogenic (recessive) g.28230247C>T - - - OCA2_000013 - - - - Germline yes - - - - DNA PCR, SEQ-NG - - OCA F4:II-1 - - M no - - - - - - 1 Mervyn Thomas
-/. - c.1365-15C>T r.(=) p.(=) Unknown - benign g.28228644G>A g.27983498G>A OCA2(NM_000275.2):c.1365-15C>T - OCA2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1378C>T r.(?) p.(Leu460Phe) Unknown - VUS g.28228616G>A g.27983470G>A - - OCA2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1382A>G r.(?) p.(Asn461Ser) Unknown - VUS g.28228612T>C g.27983466T>C OCA2(NM_000275.2):c.1382A>G (p.(Asn461Ser)) - OCA2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1427A>G r.(?) p.(Asn476Ser) Unknown - VUS g.28228567T>C g.27983421T>C - - OCA2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1441G>A r.(?) p.(Ala481Thr) Parent #1 - VUS g.28228553C>T g.27983407C>T - - OCA2_000060 conflicting interpretations of pathogenicity; 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74653330 Germline - 11/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 11 Mohammed Faruq
-/. - c.1441G>A r.(?) p.(Ala481Thr) Unknown - benign g.28228553C>T g.27983407C>T OCA2(NM_000275.2):c.1441G>A (p.A481T) - OCA2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1465A>G r.(?) p.(Asn489Asp) Unknown - pathogenic g.28228529T>C g.27983383T>C OCA2(NM_000275.2):c.1465A>G (p.N489D) - OCA2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1465A>G r.(?) p.(Asn489Asp) Unknown - pathogenic g.28228529T>C g.27983383T>C OCA2(NM_000275.2):c.1465A>G (p.N489D) - OCA2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1465A>G r.(?) p.(Asn489Asp) Unknown - likely pathogenic g.28228529T>C g.27983383T>C OCA2(NM_000275.2):c.1465A>G (p.N489D) - OCA2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1465A>G r.(?) p.(Asn489Asp) Unknown - pathogenic g.28228529T>C g.27983383T>C OCA2(NM_000275.2):c.1465A>G (p.N489D) - OCA2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1503+5G>A r.spl? p.? Paternal (confirmed) - likely pathogenic (recessive) g.28228486C>T - - - OCA2_000076 - - - - Germline yes - - - - DNA PCR, SEQ-NG - - OCA F2:II-1 - - M no - - - - - - 1 Mervyn Thomas
+/. - c.1504-2A>G r.spl? p.? Unknown - pathogenic g.28211970T>C g.27966824T>C OCA2(NM_000275.2):c.1504-2A>G - OCA2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1551C>T r.(?) p.(Cys517=) Unknown - benign g.28211921G>A g.27966775G>A OCA2(NM_000275.2):c.1551C>T (p.C517=) - OCA2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1592A>G r.(?) p.(Tyr531Cys) Unknown - VUS g.28211880T>C g.27966734T>C OCA2(NM_000275.2):c.1592A>G (p.Y531C) - OCA2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1679G>A r.(?) p.(Arg560His) Unknown - benign g.28202839C>T g.27957693C>T OCA2(NM_000275.2):c.1679G>A (p.R560H) - OCA2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1688C>T r.(?) p.(Pro563Leu) Unknown - VUS g.28202830G>A g.27957684G>A OCA2(NM_000275.2):c.1688C>T (p.P563L) - OCA2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1762C>T r.(?) p.(Arg588Trp) Unknown - VUS g.28202756G>A g.27957610G>A OCA2(NM_000275.2):c.1762C>T (p.R588W) - OCA2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1842+17C>T r.(=) p.(=) Unknown - benign g.28200287G>A g.27955141G>A OCA2(NM_000275.2):c.1842+17C>T - OCA2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1857C>T r.(?) p.(Asp619=) Unknown - benign g.28197024G>A g.27951878G>A OCA2(NM_000275.2):c.1857C>T (p.D619=) - OCA2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1857C>T r.(?) p.(Asp619=) Unknown - likely benign g.28197024G>A g.27951878G>A OCA2(NM_000275.2):c.1857C>T (p.D619=) - OCA2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1901T>A r.(?) p.(Ile634Asn) Unknown - VUS g.28196980A>T g.27951834A>T - - OCA2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1973C>G r.(?) p.(Ala658Gly) Unknown - VUS g.28171379G>C g.27926233G>C OCA2(NM_000275.2):c.1973C>G (p.A658G) - OCA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2020C>G r.(?) p.(Leu674Val) Unknown - VUS g.28171332G>C g.27926186G>C - - OCA2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2037G>C r.(?) p.(Trp679Cys) Parent #1 - likely pathogenic g.28171315C>G - - - OCA2_000072 - PubMed: Holtan 2020 - - Germline - 1/899 cases - 0 - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - 1 Global Variome, with Curator vacancy
+?/. - c.2055del r.(?) p.(Phe685Leufs*7) Maternal (confirmed) - likely pathogenic (recessive) g.28171302del g.27926156del 2055delT - OCA2_000075 - - - - Germline yes - - 0 - DNA PCR, SEQ-NG - - OCA F4:II-1 - - M no - - - - - - 1 Mervyn Thomas
?/. - c.2096A>C r.(?) p.(His699Pro) Unknown - VUS g.28117052T>G g.27871906T>G OCA2(NM_000275.2):c.2096A>C (p.(His699Pro)) - OCA2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2208G>T r.(?) p.(Ser736=) Unknown - benign g.28116336C>A g.27871190C>A OCA2(NM_000275.2):c.2208G>T (p.S736=) - OCA2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2228C>T r.(?) p.(Pro743Leu) Parent #1 - likely pathogenic g.28116316G>A g.27871170G>A - - OCA2_000059 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918167 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.2228C>T r.(?) p.(Pro743Leu) Unknown - pathogenic g.28116316G>A - OCA2(NM_000275.2):c.2228C>T (p.P743L) - OCA2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2293G>A r.(?) p.(Ala765Thr) Unknown - VUS g.28096573C>T g.27851427C>T OCA2(NM_000275.2):c.2293G>A (p.A765T) - OCA2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2293G>A r.(?) p.(Ala765Thr) Unknown - VUS g.28096573C>T - OCA2(NM_000275.2):c.2293G>A (p.A765T) - OCA2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2304C>T r.(?) p.(Leu768=) Unknown - benign g.28096562G>A g.27851416G>A OCA2(NM_000275.2):c.2304C>T (p.L768=) - OCA2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2328T>C r.(?) p.(Ala776=) Unknown - benign g.28096538A>G g.27851392A>G OCA2(NM_000275.2):c.2328T>C (p.A776=) - OCA2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2339G>A r.(?) p.(Gly780Asp) Unknown - VUS g.28090198C>T - OCA2(NM_000275.2):c.2339G>A (p.G780D) - OCA2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 23 c.2359G>A r.(?) p.(Ala787Thr) Both (homozygous) - likely pathogenic g.28090178C>T g.27845032C>T - - OCA2_000002 - PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - rs142988897 Unknown - MAF/MinorAlleleCount: T=0.00008/10 (ExAC); T=0.0004/2 (1000 Genomes); T=0.0002/2 (GO-ESP) - 0 - DNA SEQ - - OCA-2 25455140 OCA_14 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >23y 0 - - 1 Pieter Klap
+?/. 23 c.2359G>A r.(?) p.(Ala787Thr) Both (homozygous) - likely pathogenic g.28090178C>T g.27845032C>T - - OCA2_000002 - PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - rs142988897 Unknown - MAF/MinorAlleleCount: T=0.00008/10 (ExAC); T=0.0004/2 (1000 Genomes); T=0.0002/2 (GO-ESP) - 0 - DNA SEQ - - OCA-2 25455140 OCA_24 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >60y 0 - - 1 Pieter Klap
+?/. - c.2360C>T r.(?) p.(Ala787Val) Unknown - likely pathogenic g.28090177G>A g.27845031G>A - - OCA2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2399A>C r.(?) p.(His800Pro) Unknown - VUS g.28090138T>G g.27844992T>G OCA2(NM_000275.2):c.2399A>C (p.H800P) - OCA2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2402G>T r.(?) p.(Gly801Val) Unknown - VUS g.28090135C>A - OCA2(NM_000275.2):c.2402G>T (p.G801V) - OCA2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2425T>A r.(?) p.(Phe809Ile) Unknown - VUS g.28090112A>T - OCA2(NM_000275.2):c.2425T>A (p.F809I) - OCA2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

This database is one of the ”Eye disease” gene variant databases