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.

58 entries on 1 page. Showing entries 1 - 58.
Legend   How to query  

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     
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic g.94490550C>T g.94024994C>T GAC > AAC - ABCA4_000523 - PubMed: Briggs 2001 - - Germline ? ExAC 11, 121406, 0, 0.00009061 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic g.94490550C>T g.94024994C>T GAC > AAC - ABCA4_000523 - PubMed: Briggs 2001 - - Germline - ExAC 11, 121406, 0, 0.00009061 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - VUS g.94490550C>T g.94024994C>T GAC > AAC - ABCA4_000523 - PubMed: Briggs 2001 - - Germline - ExAC 11, 121406, 0, 0.00009061 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic g.94490550C>T g.94024994C>T D1532N - ABCA4_000523 - PubMed: Lewis 1999 - - Germline ? ExAC 11, 121406, 0, 0.00009061 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic g.94490550C>T g.94024994C>T D1532N - ABCA4_000523 - PubMed: Lewis 1999, PubMed: Shroyer 2001 - - Germline ? ExAC 11, 121406, 0, 0.00009061 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999, PubMed: Shroyer 2001 3-generation family, 6 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic g.94490550C>T g.94024994C>T D1532N - ABCA4_000523 - PubMed: Lewis 1999, PubMed: Shroyer 2001 - - Germline ? ExAC 11, 121406, 0, 0.00009061 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999, PubMed: Shroyer 2001 3-generation family, 6 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic g.94490550C>T g.94024994C>T D1532N - ABCA4_000523 - PubMed: Lewis 1999, PubMed: Shroyer 2001 - - Germline - ExAC 11, 121406, 0, 0.00009061 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999, PubMed: Shroyer 2001 3-generation family, 6 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic g.94490550C>T g.94024994C>T D1532N - ABCA4_000523 - PubMed: Lewis 1999, PubMed: Shroyer 2001 - - Germline - ExAC 11, 121406, 0, 0.00009061 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999, PubMed: Shroyer 2001 3-generation family, 6 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic g.94490550C>T g.94024994C>T D1532N - ABCA4_000523 - PubMed: Cella 2009 - - Germline - 11, 121406, 0, 0.00009061 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Cella 2009 - F ? - ? - - - - 1 Stéphanie Cornelis
+/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - pathogenic g.94490550C>T g.94024994C>T Asp1532Asn - ABCA4_000523 - PubMed: Oldani 2012 - - Germline - 11, 121406, 0, 0.00009061 - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - pathogenic g.94490550C>T g.94024994C>T c.4594G>A - ABCA4_000523 - PubMed: Fujinami 2013 - - Germline ? 11, 121406, 0, 0.00009061 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic g.94490550C>T g.94024994C>T c.4594G>T - ABCA4_000523 - PubMed: Fujinami 2013 - - Germline ? 11, 121406, 0, 0.00009061 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic g.94490550C>T g.94024994C>T p.[(D1532N)] - ABCA4_000523 - PubMed: Nõupuu 2014 - - Germline - 11, 121406, 0, 0.00009061 - - - DNA SEQ, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2014 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic g.94490550C>T g.94024994C>T c.4594 G>A - ABCA4_000523 - PubMed: Zaneveld 2015 - - Germline ? 11, 121406, 0, 0.00009061 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? Canada Canadian - - - - 1 Stéphanie Cornelis
+/. 31 c.4594G>A r.(4594g>a) p.(Asp1532Asn) Parent #1 ACMG pathogenic (recessive) g.94490550C>T g.94024994C>T - - ABCA4_000523 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic g.94490550C>T g.94024994C>T - - ABCA4_000523 - Sharon, submitted - - Germline - - - - - DNA SEQ - - maculopathy - Sharon, submitted - F no Israel Jewish-Ashkenazi - - - - 1 Dror Sharon
+/. - c.4594G>A r.(?) p.(Asp1532Asn) Parent #2 - pathogenic g.94490550C>T g.94024994C>T - - ABCA4_000523 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - retinal disease - - - F - - - - - - - 1 Marta de Castro-Miró
+?/. - c.4594G>A r.(?) p.(Asp1532Asn) Unknown ACMG likely pathogenic g.94490550C>T - - - ABCA4_000523 - 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
+/. - c.4594G>A r.(?) p.(Asp1532Asn) Parent #1 - pathogenic (recessive) g.94490550C>T - - - ABCA4_000523 - PubMed: Tucker 2011 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - retinal disease patient PubMed: Tucker 2011 - - - United States Jewish - - - - 1 Johan den Dunnen
+?/. - c.4594G>A r.(?) p.(Asp1532Asn) Parent #2 - likely pathogenic (recessive) g.94490550C>T g.94024994C>T - - ABCA4_000523 - PubMed: Bryant 2018 - rs62642574 Germline - - - - - DNA SEQ-NG - WES retinal disease JB320 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. - c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic g.94490550C>T g.94024994C>T - - ABCA4_000523 no variant 2nd chromosome PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 811 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T D1532N, - ABCA4_000523 - PubMed: Gomes 2009 - - Unknown - - - - - DNA ? - - retinal disease 6 PubMed: Gomes 2009 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G > A (pAsp1532Asn) - ABCA4_000523 - PubMed: Giani 2012 - - Unknown - - - - - DNA ? - - retinal disease Unknown 313 PubMed: Giani 2012 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A p.(D1532N) - ABCA4_000523 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 485 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G.A - ABCA4_000523 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 25 PubMed: Klufas 2017 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Parent #1 - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A Asp1532Asn GAC>AAC - ABCA4_000523 no variant 2nd chromosome PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 811 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A - ABCA4_000523 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 863 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A p.(Asp1532Asn) - ABCA4_000523 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1190 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Both (homozygous) - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A p.Asp1532Asn hom - ABCA4_000523 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-178-090 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A p.Asp1532Asn het - ABCA4_000523 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2018-250-161 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A, Asp1532Asn Heterozygous - ABCA4_000523 - PubMed: Goetz 2020 - - Unknown - 11, 121406, 0, 0.00009061 - - - DNA arraySEQ - Gene Chip retinal disease 116-798 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A, p.Asp1532Asn Heterozygous - ABCA4_000523 - PubMed: Goetz 2020 - - Unknown - 11, 121406, 0, 0.00009061 - - - DNA SEQ - - retinal disease 2510-3152 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A, p.Asp1532Asn Heterozygous - ABCA4_000523 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 11, 121406, 0, 0.00009061 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2587-3241 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Both (homozygous) - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A, p.Asp1532Asn Homozygous - ABCA4_000523 - PubMed: Goetz 2020 - - Unknown - 11, 121406, 0, 0.00009061 - - - DNA SEQ - - retinal disease 2759-4335 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A, p.Asp1532Asn Heterozygous - ABCA4_000523 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 11, 121406, 0, 0.00009061 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3613-5290 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Parent #2 - likely pathogenic (recessive) g.94490550C>T g.94024994C>T D1532N - ABCA4_000523 - PubMed: Hargitai 2005 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease 18 PubMed: Hargitai 2005 - M ? Hungary - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A,p.Asp1532Asn - ABCA4_000523 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12023 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A,p.Asp1532Asn - ABCA4_000523 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14034 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A,p.Asp1532Asn c.5693G>A,p.Arg1898His - ABCA4_000523 - 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
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Parent #1 - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>Aa p.(D1532N) - ABCA4_000523 - PubMed: Lee 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 7 PubMed: Lee 2018 - M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Parent #1 - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>Aa p.(D1532N) - ABCA4_000523 - PubMed: Lee 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 10 PubMed: Lee 2018 - F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Paternal (confirmed) - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A p.(Asp1532Asn) - ABCA4_000523 - PubMed: Cho 2020 - - Unknown - - - - - DNA SEQ-NG, SEQ - - retinal disease IV.4 PubMed: Cho 2020 A putative pathogenic variant in CACNA1F was also identified (c.1079C>T p.(Ser360Phe)). This gene is involved in blindness in a recessive of X-linked manner. This female patient is therefore unlikely to be affected by this variant. F ? Germany white - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G.A p.Asp1532Asn - ABCA4_000523 - PubMed: Bryant 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease JB320 PubMed: Bryant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A p.Asp1532Asn hom - ABCA4_000523 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-178-090 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A, p.D1532N Heterozygous - ABCA4_000523 - PubMed: Goetz 2020 - - Unknown - 11, 121406, 0, 0.00009061 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 2730-4305 PubMed: Goetz 2020 2730 is a family member of 2729 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A, p.Asp1532Asn Heterozygous - ABCA4_000523 - PubMed: Goetz 2020 - - Unknown - 11, 121406, 0, 0.00009061 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3050-3771 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Unknown - likely pathogenic (recessive) g.94490550C>T g.94024994C>T c.4594G>A, p.Asp1532Asn Heterozygous - ABCA4_000523 - PubMed: Goetz 2020 - - Unknown - 11, 121406, 0, 0.00009061 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3681-5373 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Maternal (confirmed) - likely pathogenic g.94490550C>T g.94024994C>T ABCA4 c.4594G>A, p.(Asp1532Asn) - ABCA4_000523 heterozygous PubMed: Birtel 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease IV.4 PubMed: Birtel 2020 mother of V:1 and V:2 F - (Germany) white - - - - 1 LOVD
?/. - c.4594G>A r.(?) p.(Asp1532Asn) Unknown - VUS g.94490550C>T g.94024994C>T ABCA4 c.4594G>A, p.Asp1532Asn - ABCA4_000523 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2942_004527 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Parent #1 ACMG pathogenic (recessive) g.94490550C>T g.94024994C>T - - ABCA4_000523 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat284 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Parent #2 ACMG pathogenic (recessive) g.94490550C>T g.94024994C>T - - ABCA4_000523 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat29 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Parent #2 ACMG pathogenic (recessive) g.94490550C>T g.94024994C>T c.[4594G>A;5603A>T] - ABCA4_000523 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat37 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.4594G>A r.(?) p.(Asp1532Asn) Both (homozygous) - pathogenic (recessive) g.94490550C>T g.94024994C>T - - ABCA4_000523 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-276 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4594G>A r.(?) p.(Asp1532Asn) Unknown - pathogenic (recessive) g.94490550C>T g.94024994C>T - - ABCA4_000523 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-168 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4594G>A r.(?) p.(Asp1532Asn) Unknown - pathogenic (recessive) g.94490550C>T g.94024994C>T - - ABCA4_000523 - 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.4594G>A r.(?) p.(Asp1532Asn) Unknown - pathogenic (recessive) g.94490550C>T g.94024994C>T - - ABCA4_000523 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-187 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 31 c.4594G>A r.(?) p.(Asp1532Asn) Parent #2 ACMG pathogenic g.94490550C>T g.94024994C>T c.4594G>A(;)5603A>T - ABCA4_000523 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 080610 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.4594G>A r.(?) p.(Asp1532Asn) Unknown ACMG pathogenic g.94490550C>T g.94024994C>T - - ABCA4_000523 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 072002 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.