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.

76 entries on 1 page. Showing entries 1 - 76.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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-?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - likely benign g.94476377C>T g.94010821C>T R1898H - ABCA4_000411 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Lewis 1999 - - Germline ? ExAC 216, 121058, 1, 0.001784 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 - ? ? United States white - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Parent #1 - VUS g.94476377C>T g.94010821C>T D249G, R1898H - ABCA4_000411 - PubMed: Lewis 1999 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg943Gln) Parent #1 - VUS g.94476377C>T g.94010821C>T G863A, R1898H, 2828G>A - ABCA4_000411 - PubMed: Lewis 1999, PubMed: Shroyer 2000 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Parent #1 - VUS g.94476377C>T g.94010821C>T G863A, R1898H, 2828G>A - ABCA4_000411 - PubMed: Lewis 1999, PubMed: Shroyer 2000 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
+/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - pathogenic g.94476377C>T g.94010821C>T R1898H - ABCA4_000411 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Rivera 2000 - - Germline ? ExAC 216, 121058, 1, 0.001784 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - likely pathogenic g.94476377C>T g.94010821C>T R1898H - ABCA4_000411 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Rivera 2000 - - Germline - ExAC 216, 121058, 1, 0.001784 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - likely pathogenic g.94476377C>T g.94010821C>T R1898H - ABCA4_000411 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Rivera 2000 - - Germline ? ExAC 216, 121058, 1, 0.001784 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T R1898H - ABCA4_000411 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Rivera 2000 - - Germline - ExAC 216, 121058, 1, 0.001784 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T R1898H - ABCA4_000411 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Rivera 2000 - - Germline - ExAC 216, 121058, 1, 0.001784 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T Arg1898His CGC>CAC - ABCA4_000411 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01); found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 216, 121058, 1, 0.001784 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T Arg1898His CGC>CAC - ABCA4_000411 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01); found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 216, 121058, 1, 0.001784 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T 5693G>A - ABCA4_000411 - PubMed: Webster 2001 - - Germline - ExAC 216, 121058, 1, 0.001784 - - - 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. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.79). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A - ABCA4_000411 - PubMed: Ernest 2009 - - Germline - 216, 121058, 1, 0.001784 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.79). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T Arg1898His CGC>CAC - ABCA4_000411 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01); found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 216, 121058, 1, 0.001784 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T Arg1898His CGC>CAC - ABCA4_000411 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01); found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 216, 121058, 1, 0.001784 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A - ABCA4_000411 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Zernant 2011 - - Germline - 216, 121058, 1, 0.001784 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A - ABCA4_000411 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Zernant 2011 - - Germline - 216, 121058, 1, 0.001784 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A - ABCA4_000411 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Duno 2012 - - Germline ? 216, 121058, 1, 0.001784 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX ? - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
+?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - likely pathogenic g.94476377C>T g.94010821C>T 5693G>A - ABCA4_000411 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Westeneng-van Haaften 2012 - - Germline - 216, 121058, 1, 0.001784 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - likely pathogenic g.94476377C>T g.94010821C>T c.5693G>A - ABCA4_000411 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Fujinami 2013 - - Germline ? 216, 121058, 1, 0.001784 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A - ABCA4_000411 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Bauwens 2014 - - Germline - 216, 121058, 1, 0.001784 - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(5693g>a) p.(Arg1898His) Parent #1 ACMG VUS g.94476377C>T g.94010821C>T - - ABCA4_000411 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T ABCA4(NM_000350.2):c.5693G>A (p.R1898H), ABCA4(NM_000350.3):c.5693G>A (p.R1898H, p.(Arg1898His)) - ABCA4_000411 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T ABCA4(NM_000350.2):c.5693G>A (p.R1898H), ABCA4(NM_000350.3):c.5693G>A (p.R1898H, p.(Arg1898His)) - ABCA4_000411 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T ABCA4(NM_000350.2):c.5693G>A (p.R1898H), ABCA4(NM_000350.3):c.5693G>A (p.R1898H, p.(Arg1898His)) - ABCA4_000411 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Parent #1 - VUS g.94476377C>T g.94010821C>T - - ABCA4_000411 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Parent #1 - VUS g.94476377C>T g.94010821C>T - - ABCA4_000411 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Parent #1 - VUS g.94476377C>T g.94010821C>T - - ABCA4_000411 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Parent #1 - VUS g.94476377C>T g.94010821C>T - - ABCA4_000411 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+?/. - c.5693G>A r.(?) p.(Arg1898His) Parent #1 ACMG likely pathogenic g.94476377C>T - c.[1411G>A;5693G>A] - ABCA4_000411 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. 40 c.5693G>A r.(?) p.(Arg1898His) Parent #2 - pathogenic (recessive) g.94476377C>T g.94010821C>T - - ABCA4_000411 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat19 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
-?/. - c.5693G>A r.(?) p.(Arg1898His) Paternal (confirmed) - VUS g.94476377C>T - - - ABCA4_000411 - PubMed: Lin 2018 - - Germline yes - - - - DNA SEQ-NG - - retinal disease FamPatI1?II2/II3 PubMed: Lin 2018 2-generation family, 3 affected (3M) M no China - - - - - 3 Johan den Dunnen
+?/. - c.5693G>A r.(?) p.(Arg1898His) Parent #1 - likely pathogenic g.94476377C>T g.94010821C>T - - ABCA4_000411 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 783 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.5693G>A r.(?) p.(Arg1898His) Parent #1 - likely pathogenic g.94476377C>T g.94010821C>T - - ABCA4_000411 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 784 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown ACMG VUS g.94476377C>T - - - ABCA4_000411 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - F ? Argentina - - - - - 1 Marcela Mena
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T Arg1898His - ABCA4_000411 no variant 2nd chromosome PubMed: Oh 2004 - - Unknown - - - - - DNA SEQ - - retinal disease Patient 3 PubMed: Oh 2004 - M no United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T R1898H - ABCA4_000411 - PubMed: Reinhard 2007 - - Unknown - - - - - DNA DGGE, DHPLC, SSCA - - retinal disease 4 PubMed: Reinhard 2007 - M ? Germany - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T R1898H - ABCA4_000411 no variant 2nd chromosome; segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0088 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T Arg1898his & Lys2056stop - ABCA4_000411 - PubMed: Anastasakis 2011 - - Unknown - - - - - DNA ? - - retinal disease 3 PubMed: Anastasakis 2011 - M ? United States white - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A p.(R1898H) - ABCA4_000411 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 528 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Parent #1 - VUS g.94476377C>T g.94010821C>T c.5693G>A Arg1898His CGC>CAC - ABCA4_000411 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 783 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A Arg1898His CGC>CAC - ABCA4_000411 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 784 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A (p.R1898H) - ABCA4_000411 no variant 2nd chromosome PubMed: Lin 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease I:1 PubMed: Lin 2018 Another mutation was found in (LRP5) c.260T>G (p.I87S), 2 children affected too, carrying the same two mutations M ? China - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T p.Arg1898His - ABCA4_000411 no variant 2nd chromosome PubMed: Zhao 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 631 PubMed: Zhao 2018 mutations were not reported per patient; these 33 mutations were present in 14 patients - ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A,p.Arg1898His - ABCA4_000411 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13102 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A p.(Arg1898His) - ABCA4_000411 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A p.(Arg1898His) - ABCA4_000411 no variant 2nd chromosome PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 310 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A p.(Arg1898His) - ABCA4_000411 no variant 2nd chromosome PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 320 PubMed: Jespersgaard 2019 The variant CNGB1 c.2570_2571insT p.(Glu857Aspfs*77) was found as well. - ? Denmark - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A p.Arg1898His Het - ABCA4_000411 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-165-350 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A, p.Arg1898His Heterozygous - ABCA4_000411 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 216, 121058, 1, 0.001784 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4324-6131 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A, p.Arg1898His Heterozygous - ABCA4_000411 - PubMed: Goetz 2020 - - Unknown - 216, 121058, 1, 0.001784 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5289-6418 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A, p.Arg1898His Heterozygous - ABCA4_000411 - PubMed: Goetz 2020 - - Unknown - 216, 121058, 1, 0.001784 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 580-1095 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Parent #1 - VUS g.94476377C>T g.94010821C>T p.Arg1898His - ABCA4_000411 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 19 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.4594G>A,p.Asp1532Asn c.5693G>A,p.Arg1898His - ABCA4_000411 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14039 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Parent #1 - VUS g.94476377C>T g.94010821C>T c.[179C>T;5693G>A] p.[Ala60Val;Arg1898His] - ABCA4_000411 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66701 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Parent #1 - VUS g.94476377C>T g.94010821C>T c.[4918C>T;5693G>A] p.[Arg1640Trp;Arg1898His] - ABCA4_000411 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66759 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Parent #1 - VUS g.94476377C>T g.94010821C>T c.[1411G>A;5693G>A] - ABCA4_000411 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 773 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T het c.5693G>A p.Arg1898His - ABCA4_000411 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 85 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A, p.Arg1898His Heterozygous - ABCA4_000411 - PubMed: Goetz 2020 - - Unknown - 216, 121058, 1, 0.001784 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2943-3638 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A, p.Arg1898His Heterozygous - ABCA4_000411 - PubMed: Goetz 2020 - - Unknown - 216, 121058, 1, 0.001784 - - - DNA SEQ - - retinal disease 3313-4056 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A, p.(Arg1898His) Heterozygous - ABCA4_000411 - PubMed: Goetz 2020 - - Unknown - 216, 121058, 1, 0.001784 - - - DNA SEQ - - retinal disease 4460-6278 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693G>A, p.Arg1898His Heterozygous - ABCA4_000411 - PubMed: Goetz 2020 - - Unknown - 216, 121058, 1, 0.001784 - - - DNA SEQ - - retinal disease 4693-5701 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T c.5693 G>A, p.Arg1898His Heterozygous - ABCA4_000411 - PubMed: Goetz 2020 - - Unknown - 216, 121058, 1, 0.001784 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5724-6917 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T ABCA4 c.5693G>A, p.Arg1898His - ABCA4_000411 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease SD4 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
+?/. 40 c.5693G>A r.(?) p.(Arg1898His) Parent #2 - likely pathogenic (recessive) g.94476377C>T - c.5693G>A/p.(Arg1898His) - ABCA4_000411 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 21 PubMed: Müller 2020 - M ? Germany - - - - - 1 LOVD
+?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - likely pathogenic (recessive) g.94476377C>T - R1898H - ABCA4_000411 - PubMed: Bernstein 2002 - - Unknown ? - - - - DNA SEQ - - retinal disease ? PubMed: Bernstein 2002 unknown 2nd chromosome ? ? United States - - - - - 1 LOVD
?/. - c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T - ABCA4(NM_000350.2):c.5693G>A (p.R1898H), ABCA4(NM_000350.3):c.5693G>A (p.R1898H, p.(Arg1898His)) - ABCA4_000411 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T - c.5693G>A - ABCA4_000411 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71304 PubMed: Khan 2020 - M - - - - - - - 1 LOVD
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T - c.5693G>A - ABCA4_000411 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66777 PubMed: Khan 2019PubMed: Khan 2020 - M - Germany - - - - - 1 LOVD
?/. 40 c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T - c.5693G>A - ABCA4_000411 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66833 PubMed: Khan 2019PubMed: Khan 2020 - M - Germany - - - - - 1 LOVD
?/. - c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T - - ABCA4_000411 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-246 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T - - ABCA4_000411 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-11 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T - - ABCA4_000411 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-80 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T - - ABCA4_000411 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-49 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T g.94010821C>T - - ABCA4_000411 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-51 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.5693G>A r.(?) p.(Arg1898His) Unknown - VUS g.94476377C>T - ABCA4(NM_000350.2):c.5693G>A (p.R1898H), ABCA4(NM_000350.3):c.5693G>A (p.R1898H, p.(Arg1898His)) - ABCA4_000411 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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