Full data view for gene ABCA4


The expert classification of the variants can be found here.

To other Inherited Retinal Disease gene variant database:
Information The variants shown are described using the NM_000350.2 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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Effect     

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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

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-?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - likely benign g.94473287G>A g.94007731G>A L1970F - ABCA4_000395 - PubMed: Lewis 1999 - - Germline ? ExAC 352, 120336, 1, 0.002925 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 4-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - likely pathogenic g.94473287G>A g.94007731G>A C5908T - ABCA4_000395 - PubMed: Rozet 1998 - - Germline - ExAC 352, 120336, 1, 0.002925 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Gerber 1995 - ? ? - - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A 5908C>T - ABCA4_000395 - PubMed: Webster 2001 - - Germline - ExAC 352, 120336, 1, 0.002925 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A CTC 5908 TTC - ABCA4_000395 - PubMed: Ducroq 2002 - - Germline - ExAC 352, 120336, 1, 0.002925 - - - DNA DHPLC, SEQ - - CORD - PubMed: Ducroq 2002 - ? ? France ? - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T - ABCA4_000395 - PubMed: Rosenberg 2007 - - Germline - 352, 120336, 1, 0.002925 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T - ABCA4_000395 - PubMed: Bauwens 2014 - - Germline - 352, 120336, 1, 0.002925 - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5909C>T - ABCA4_000395 - PubMed: Bauwens 2014 - - Germline - 352, 120336, 1, 0.002925 - - - DNA SEQ-NG-I, PCR, SEQ - - COD - PubMed: Bauwens 2014 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(5908c>u) p.(Leu1970Phe) Parent #1 ACMG VUS g.94473287G>A g.94007731G>A - - ABCA4_000395 variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Parent #2 - likely benign g.94473287G>A g.94007731G>A - - ABCA4_000395 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Parent #1 - likely benign g.94473287G>A g.94007731G>A - - ABCA4_000395 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. - c.5908C>T r.(?) p.(Leu1970Phe) Parent #1 - VUS g.94473287G>A g.94007731G>A - - ABCA4_000395 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28938473 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Parent #1 - pathogenic g.94473287G>A g.94007731G>A - - ABCA4_000395 no variant 2nd chromosome PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat89 PubMed: Bravo-Gil 2017 - - - Spain - - - - - 1 Nereida Bravo Gil
+?/. - c.5908C>T r.(?) p.(Leu1970Phe) Unknown - likely pathogenic g.94473287G>A g.94007731G>A - - ABCA4_000395 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13010483 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A L1970F (5908C>T) - ABCA4_000395 no variant 2nd chromosome PubMed: Stenirri 2007 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease RP10 PubMed: Stenirri 2007 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T p.L1970F - ABCA4_000395 no variant 2nd chromosome PubMed: Thiadens 2012 - - Unknown - - - - - DNA DGGE, PE, SEQ - APEX retinal disease Unknown 311 PubMed: Thiadens 2012 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T p.(L1970F) - ABCA4_000395 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 538 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T p.L1970F Het - ABCA4_000395 no variant 2nd chromosome PubMed: Bravo-Gil 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 89 PubMed: Bravo-Gil 2017 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A p.Leu1970Phe - ABCA4_000395 no variant 2nd chromosome PubMed: Zhao 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 634 PubMed: Zhao 2018 mutations were not reported per patient; these 33 mutations were present in 14 patients - ? United States - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T p.(Leu1970Phe) - ABCA4_000395 no variant 2nd chromosome; no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66827 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A ABCA4 c.5908C>T p.(Leu1970Phe) het - ABCA4_000395 - PubMed: Ellingford 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 13010483 PubMed: Ellingford 2016 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T p.Leu1970Phe het - ABCA4_000395 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-272-105 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T p.Leu1970Phe Het - ABCA4_000395 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-250-159 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T p.Leu1970Phe Het - ABCA4_000395 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-355-035 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T p.Leu1970Phe Het - ABCA4_000395 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-213-274 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T,p.Leu1970Phe - ABCA4_000395 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14003 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T,p.Leu1970Phe - ABCA4_000395 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14117 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T p.(Leu1970Phe) - ABCA4_000395 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 24 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T p.Leu1970Phe het - ABCA4_000395 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2015-041-008 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T p.Leu1970Phe het - ABCA4_000395 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2016-092-041 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T p.Leu1970Phe het - ABCA4_000395 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2017-209-153 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T p.Leu1970Phe het - ABCA4_000395 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2019-051-266 Prevention Genetics - - ? - England;Scotland - - - - 1 Stéphanie Cornelis
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A c.5908C>T, p.Leu1970Phe Heterozygous - ABCA4_000395 - PubMed: Goetz 2020 - - Unknown - 352, 120336, 1, 0.002925 - - - DNA SEQ-NG-I - solid state SBS retinal disease 388-1772 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - pathogenic g.94473287G>A - c.5908C>T - ABCA4_000395 normal 2nd chromosome PubMed: Thiadens_2012 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Thiadens_2012 - - no - - - - - - 1 LOVD
+/. - c.5908C>T r.(?) p.(Leu1970Phe) Unknown ACMG pathogenic g.94473287G>A g.94007731G>A EYS c.6714del, p.(Ile2239Serfs*17), c.6714del, p.(Ile2239Serfs*17), ABCA4 c.5908C>T, p.(Leu1970Phe) - ABCA4_000395 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 124 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.5908C>T r.(?) p.(Leu1970Phe) Unknown ACMG pathogenic g.94473287G>A g.94007731G>A PRPH2 c.676C>T, p.(Gln226*), ABCA4 c.5908C>T, p.(Leu1970Phe) - ABCA4_000395 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 204 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A m29: c.5908C>T; p.Leu1970Phe - ABCA4_000395 - PubMed: Gonzalez del Pozo 2018 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood unsolved: single allele variant in autosomal recessive disease retinal disease V (II:1) PubMed: Gonzalez del Pozo 2018 - ? no Spain - - - - - 1 LOVD
+?/. - c.5908C>T r.(?) p.(Leu1970Phe) Unknown ACMG likely pathogenic g.94473287G>A g.94007731G>A ABCA4:NM_000350 c.C5908T, p.L1970F - ABCA4_000395 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-320 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.5908C>T r.(?) p.(Leu1970Phe) Unknown ACMG likely pathogenic g.94473287G>A g.94007731G>A ABCA4:NM_000350 c.C5908T, p.L1970F - ABCA4_000395 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-339 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A - p.L1970F - ABCA4_000395 - PubMed: Matsui 2015 - - Germline - - - - - DNA PE - - retinal disease - PubMed: Matsui 2015 - F - United States - - - - - 1 LOVD
-?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - likely benign g.94473287G>A - Leu1970Phe/Wt - ABCA4_000395 - PubMed: Souied 2000 - - Unknown ? - - - - DNA SSCA, SEQ - - retinal disease II.1,#18 PubMed: Souied 2000 unknown 2nd chromosome ? ? - - - - - - 1 LOVD
-?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - likely benign g.94473287G>A - Leu1970Phe/Wt - ABCA4_000395 - PubMed: Souied 2000 - - Unknown ? - - - - DNA SSCA, SEQ - - retinal disease II.2,#18 PubMed: Souied 2000 unknown 2nd chromosome ? ? - - - - - - 1 LOVD
-?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - likely benign g.94473287G>A - L1970F - ABCA4_000395 - PubMed: Bernstein 2002 - - Unknown ? - - - - DNA SEQ - - retinal disease ? PubMed: Bernstein 2002 unknown 2nd chromosome ? ? United States - - - - - 1 LOVD
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A - c.5908C>T - ABCA4_000395 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - - retinal disease 66828 PubMed: Khan 2020 - F - Germany - - - - - 1 LOVD
?/. 43 c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A - c.5908C>T - ABCA4_000395 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66662 PubMed: Khan 2019PubMed: Khan 2020 - F - Germany - - - - - 1 LOVD
?/. - c.5908C>T r.(?) p.(Leu1970Phe) Unknown ACMG VUS g.94473287G>A g.94007731G>A ABCA4 c.5908C>T, p.(Leu1970Phe) - ABCA4_000395 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 5_6 PubMed: Zhu 2022 family 5, individual 6 F - - - - - - - 1 LOVD
+?/. - c.5908C>T r.(?) p.(Leu1970Phe) Unknown ACMG likely pathogenic g.94473287G>A g.94007731G>A ABCA4 c.5908C>T, p.Leu1970Phe - ABCA4_000395 compound heterozygous, possibly causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 54_63 PubMed: Zhu 2022 family 54, individual 63 F - - - - - - - 1 LOVD
?/. - c.5908C>T r.(?) p.(Leu1970Phe) Parent #1 - VUS g.94473287G>A g.94007731G>A - - ABCA4_000395 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0237 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
?/. - c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A - - ABCA4_000395 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-35 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A - - ABCA4_000395 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-182 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A - - ABCA4_000395 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-85 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A - - ABCA4_000395 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-346 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A - - ABCA4_000395 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-100 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.5908C>T r.(?) p.(Leu1970Phe) Unknown - VUS g.94473287G>A g.94007731G>A - - ABCA4_000395 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-114 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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