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.

62 entries on 1 page. Showing entries 1 - 62.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - VUS g.94474323A>G g.94008767A>G L1940P - ABCA4_000156 - PubMed: Paloma 2001 - - Germline - ExAC 1, 121410, 0, 0.000008237 - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Rozet 1998 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - VUS g.94474323A>G g.94008767A>G L1940P - ABCA4_000156 - PubMed: Paloma 2001 - - Germline - ExAC 1, 121410, 0, 0.000008237 - - - DNA PCR, SSCA, SEQ - - ? - PubMed: Rozet 1998 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Both (homozygous) - likely pathogenic g.94474323A>G g.94008767A>G L1940P - ABCA4_000156 - PubMed: Paloma 2002 - - Germline ? ExAC 1, 121410, 0, 0.000008237 - - - DNA PCR, SEQ, PCRdig - - ? - PubMed: Paloma 2002 - F ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Paternal (confirmed) - likely pathogenic g.94474323A>G g.94008767A>G L1940P - ABCA4_000156 - PubMed: Paloma 2002 - - Germline - ExAC 1, 121410, 0, 0.000008237 - - - DNA PCR, SEQ, PCRdig - - STGD1 - PubMed: Paloma 2002 - M ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Paternal (confirmed) - likely pathogenic g.94474323A>G g.94008767A>G L1940P - ABCA4_000156 - PubMed: Paloma 2002 - - Germline - ExAC 1, 121410, 0, 0.000008237 - - - DNA PCR, SEQ, PCRdig - - STGD1 - PubMed: Paloma 2002 - F ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Paternal (confirmed) - likely pathogenic g.94474323A>G g.94008767A>G L1940P - ABCA4_000156 - PubMed: Paloma 2002 - - Germline - ExAC 1, 121410, 0, 0.000008237 - - - DNA PCR, SEQ, PCRdig - - ? - PubMed: Paloma 2002 - F ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Paternal (confirmed) - likely pathogenic g.94474323A>G g.94008767A>G L1940P - ABCA4_000156 - PubMed: Paloma 2002 - - Germline - ExAC 1, 121410, 0, 0.000008237 - - - DNA PCR, SEQ, PCRdig - - ? - PubMed: Paloma 2002 - M ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Paternal (confirmed) - likely pathogenic g.94474323A>G g.94008767A>G L1940P - ABCA4_000156 - PubMed: Paloma 2002 - - Germline - ExAC 1, 121410, 0, 0.000008237 - - - DNA PCR, SEQ, PCRdig - - STGD1 - PubMed: Paloma 2002 - M ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic g.94474323A>G g.94008767A>G (5819T>C) - ABCA4_000156 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 1, 121410, 0, 0.000008237 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - F ? Spain - - - - - 1 Stéphanie Cornelis
+/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - pathogenic g.94474323A>G g.94008767A>G c.5819T>C - ABCA4_000156 - PubMed: Kitiratschky 2008 - - Germline yes ExAC 1, 121410, 0, 0.000008237 - - - DNA PCR, PE, SEQ - APEX COD - PubMed: Kitiratschky 2008 - M ? - (German):(United States) - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic g.94474323A>G g.94008767A>G c.5819T>C - ABCA4_000156 - PubMed: Riveiro-Alvarez 2013 - - Germline - 1, 121410, 0, 0.000008237 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic g.94474323A>G g.94008767A>G c.5819T>C - ABCA4_000156 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 121410, 0, 0.000008237 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic g.94474323A>G g.94008767A>G c.5819T>C - ABCA4_000156 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 121410, 0, 0.000008237 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Both (homozygous) - likely pathogenic g.94474323A>G g.94008767A>G c.5819T>C - ABCA4_000156 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 121410, 0, 0.000008237 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic g.94474323A>G g.94008767A>G c.5819T>C - ABCA4_000156 - PubMed: Riveiro-Alvarez 2013 - - Germline - 1, 121410, 0, 0.000008237 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic g.94474323A>G g.94008767A>G c.5819T>C - ABCA4_000156 - PubMed: Riveiro-Alvarez 2013 - - Germline - 1, 121410, 0, 0.000008237 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic g.94474323A>G g.94008767A>G c.5819T>C - ABCA4_000156 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 121410, 0, 0.000008237 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic g.94474323A>G g.94008767A>G c.5819T>C - ABCA4_000156 - PubMed: Riveiro-Alvarez 2013 - - Germline - 1, 121410, 0, 0.000008237 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic g.94474323A>G g.94008767A>G c.5819T>C - ABCA4_000156 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 121410, 0, 0.000008237 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic g.94474323A>G g.94008767A>G c.5819T>C - ABCA4_000156 - PubMed: Riveiro-Alvarez 2013 - - Germline - 1, 121410, 0, 0.000008237 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - VUS g.94474323A>G g.94008767A>G c.5819T>C - ABCA4_000156 - PubMed: Riveiro-Alvarez 2013 - - Germline - 1, 121410, 0, 0.000008237 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - pathogenic g.94474323A>G g.94008767A>G L1940P - ABCA4_000156 - PubMed: Cideciyan 2009 - - Germline - 1, 121410, 0, 0.000008237 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - pathogenic g.94474323A>G g.94008767A>G L1940P - ABCA4_000156 - PubMed: Cideciyan 2009 - - Germline - 1, 121410, 0, 0.000008237 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 4 affected family members M ? - ? - - - - 1 Stéphanie Cornelis
+/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - pathogenic g.94474323A>G g.94008767A>G L1940P - ABCA4_000156 - PubMed: Cideciyan 2009 - - Germline - 1, 121410, 0, 0.000008237 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 4 affected family members M ? - ? - - - - 1 Stéphanie Cornelis
+/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - pathogenic g.94474323A>G g.94008767A>G L1940P - ABCA4_000156 - PubMed: Cideciyan 2009 - - Germline - 1, 121410, 0, 0.000008237 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 4 affected family members F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic g.94474323A>G g.94008767A>G L1940P - ABCA4_000156 - PubMed: Cideciyan 2009 - - Germline - 1, 121410, 0, 0.000008237 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 4 affected family members F ? - ? - - - - 1 Stéphanie Cornelis
+/. 41 c.5819T>C r.(5819u>c) p.(Leu1940Pro) Parent #1 ACMG pathogenic (recessive) g.94474323A>G g.94008767A>G - - ABCA4_000156 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5819T>C r.(?) p.(Leu1940Pro) Parent #2 - pathogenic g.94474323A>G g.94008767A>G - - ABCA4_000156 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3522 PubMed: Zenteno 2020 - - - Mexico - - - - - 1 Johan den Dunnen
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown ACMG likely pathogenic g.94474323A>G - - - ABCA4_000156 - Mena et al., 2020 submitted - rs61753033 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - M no Argentina - - - - - 1 Marcela Mena
+?/. - c.5819T>C r.(?) p.(Leu1940Pro) Parent #2 - likely pathogenic g.94474323A>G g.94008767A>G - - ABCA4_000156 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/23 PubMed: Riera 2017 family, several affected - - Spain - - - - - 2 LOVD
+/. - c.5819T>C r.(?) p.(Leu1940Pro) Both (homozygous) - pathogenic g.94474323A>G g.94008767A>G - - ABCA4_000156 - PubMed: Zolnikova 2017 - rs61753033 Germline - - - - - DNA SEQ-NG - 325-gene panel retinal disease P001 PubMed: Zolnikova 2017 - - - Russia Georgia - - - - 1 LOVD
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic (recessive) g.94474323A>G g.94008767A>G Leu1940Pro - ABCA4_000156 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 172 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic (recessive) g.94474323A>G g.94008767A>G Leu1940Pro - ABCA4_000156 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 173 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic (recessive) g.94474323A>G g.94008767A>G Leu1940Pro - ABCA4_000156 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 174 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Both (homozygous) - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T>C Leu1940Pro Homozygous - ABCA4_000156 - PubMed: Zolnikova 2017 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P001 PubMed: Zolnikova 2017 - F ? Russia Georgian - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T>C p.Leu1940Pro - ABCA4_000156 - PubMed: Zenteno 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 3,522 PubMed: Zenteno 2019 - - ? Mexico Mexico - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Parent #1 - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T>C p.(Leu1940Pro) - ABCA4_000156 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0683 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T>C p.(Leu1940Pro) - ABCA4_000156 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0754 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Both (homozygous) - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T>C p.(Leu1940Pro) - ABCA4_000156 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0765 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Both (homozygous) - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T>C p.(Leu1940Pro) - ABCA4_000156 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0989 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T>C p.(Leu1940Pro) - ABCA4_000156 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1205 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic (recessive) g.94474323A>G g.94008767A>G L1940P - ABCA4_000156 - PubMed: Aleman 2007PubMed: Cideciyan 2007 - - Unknown - - - - - DNA ? - - retinal disease 4 PubMed: Aleman 2007PubMed: Cideciyan 2007 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T>C,p.Leu1940Pro - ABCA4_000156 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 16036 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Parent #2 - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T?>?C Leu1940Pro - ABCA4_000156 - PubMed: Riera 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fi15/23* PubMed: Riera 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T>C p.(Leu1940Pro) - ABCA4_000156 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0323 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T>C p.(Leu1940Pro) - ABCA4_000156 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0822 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Parent #2 - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T>C p.(Leu1940Pro) - ABCA4_000156 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0911 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T>C p.(Leu1940Pro) - ABCA4_000156 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0984 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Parent #2 - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T>C p.(Leu1940Pro) - ABCA4_000156 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1119 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T>C p.(Leu1940Pro) - ABCA4_000156 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1137 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T>C p.(Leu1940Pro) - ABCA4_000156 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1249 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic (recessive) g.94474323A>G g.94008767A>G c.5819T>C p.(Leu1940Pro) - ABCA4_000156 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease RP-2948 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic g.94474323A>G g.94008767A>G ABCA4 Ex.13 c.1879G>T p.(Glu627*), Ex.41 c.5819T>C p.(Leu1940Pro) - ABCA4_000156 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2104 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic g.94474323A>G g.94008767A>G ABCA4 Ex.6 c.613T>G p.(Cys205Gly), Ex.41 c.5819T>C p.(Leu1940Pro) - ABCA4_000156 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2343 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+/. - c.5819T>C r.(?) p.(Leu1940Pro) Unknown ACMG pathogenic g.94474323A>G g.94008767A>G ABCA4 c.5819T>C, p.(Leu1940Pro) - ABCA4_000156 heterozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.063 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+/. - c.5819T>C r.(?) p.(Leu1940Pro) Paternal (confirmed) ACMG pathogenic g.94474323A>G g.94008767A>G ABCA4 c.5819T>C, p.(Leu1940Pro) - ABCA4_000156 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-507 PubMed: Rodriguez Munoz 2021 family ID fRPN-219, proband's sister F - Spain - - - - - 1 LOVD
+/. - c.5819T>C r.(?) p.(Leu1940Pro) Paternal (confirmed) ACMG pathogenic g.94474323A>G g.94008767A>G ABCA4 c.5819T>C, p.(Leu1940Pro) - ABCA4_000156 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-508 PubMed: Rodriguez Munoz 2021 family ID fRPN-219, proband M - Spain - - - - - 1 LOVD
+/. - c.5819T>C r.(?) p.(Leu1940Pro) Paternal (confirmed) ACMG pathogenic g.94474323A>G g.94008767A>G ABCA4 c.5819T>C, p.(Leu1940Pro) - ABCA4_000156 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-507 PubMed: Rodriguez Munoz 2021 family ID fRPN-219, proband's sister F - Spain - - - - - 1 LOVD
+/. - c.5819T>C r.(?) p.(Leu1940Pro) Paternal (confirmed) ACMG pathogenic g.94474323A>G g.94008767A>G ABCA4 c.5819T>C, p.(Leu1940Pro) - ABCA4_000156 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-508 PubMed: Rodriguez Munoz 2021 family ID fRPN-219, proband M - Spain - - - - - 1 LOVD
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic (recessive) g.94474323A>G - c.5819T>C - ABCA4_000156 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70707 PubMed: Khan 2020 - F - Spain - - - - - 1 LOVD
+?/. 41 c.5819T>C r.(?) p.(Leu1940Pro) Unknown - likely pathogenic (recessive) g.94474323A>G - c.5819T>C - ABCA4_000156 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71102 PubMed: Khan 2020 - M - Brazil - - - - - 1 LOVD
+?/. - c.5819T>C r.(?) p.(Leu1940Pro) Unknown ACMG likely pathogenic g.94474323A>G g.94008767A>G - - ABCA4_000156 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 070707 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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