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.

24 entries on 1 page. Showing entries 1 - 24.
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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     
?/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Unknown - VUS g.94463568_94463603del g.93998012_93998047del c.6543_6578del - ABCA4_000805 - PubMed: Zernant 2011 - - Germline - - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Maternal (confirmed) - likely pathogenic g.94463568_94463603del g.93998012_93998047del c.6543_6578del - ABCA4_000805 - PubMed: Bauwens 2014 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - M ? Belgium ? - - - - 1 Stéphanie Cornelis
+/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Unknown - pathogenic g.94463568_94463603del g.93998012_93998047del c.6543_6578del - ABCA4_000805 - PubMed: Lambertus 2015 - - Germline ? - - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 48 c.6545_6580del r.(6545_6580del) p.(Leu2182_Phe2193del) Parent #1 ACMG pathogenic (recessive) g.94463568_94463603del g.93998012_93998047del - - ABCA4_000805 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Unknown - likely pathogenic g.94463568_94463603del g.93998012_93998047del ABCA4(NM_000350.3):c.6545_6580del (p.L2182_F2193del) - ABCA4_000805 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Unknown - likely pathogenic g.94463568_94463603del g.93998012_93998047del ABCA4(NM_000350.3):c.6545_6580del (p.L2182_F2193del) - ABCA4_000805 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Parent #2 - pathogenic (recessive) g.94463568_94463603del g.93998012_93998047del - - ABCA4_000805 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat55 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. - c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Parent #1 - likely pathogenic g.94463568_94463603del g.93998012_93998047del 6543_6578delCCTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTT - ABCA4_000805 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 798 PubMed: Stone 2017 family, 6 affected M - (United States) - - - - - 6 LOVD
+?/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Parent #1 - likely pathogenic (recessive) g.94463568_94463603del g.93998012_93998047del c.6545_6580del - ABCA4_000805 - PubMed: Parker 2016 - - Unknown - - - - - DNA ? - - retinal disease 15 PubMed: Parker 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Both (homozygous) - likely pathogenic (recessive) g.94463568_94463603del g.93998012_93998047del c.6543_6578del (p.Leu2182_Phe2193del) - ABCA4_000805 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3164 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Unknown - likely pathogenic (recessive) g.94463568_94463603del g.93998012_93998047del c.6543_6578del (p.Leu2182_Phe2193del) - ABCA4_000805 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3110 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Parent #1 - likely pathogenic (recessive) g.94463568_94463603del g.93998012_93998047del c.6543_6578delCCTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTT Asp2181 del36gaCCTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTT - ABCA4_000805 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 798 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Both (homozygous) - likely pathogenic (recessive) g.94463568_94463603del g.93998012_93998047del c.6543_6578del (p.Leu2182_Phe2193del) homozygote - ABCA4_000805 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 26 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Parent #1 - likely pathogenic (recessive) g.94463568_94463603del g.93998012_93998047del c.[6543_6578del] - ABCA4_000805 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P2G7 PubMed: Bauwens 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Parent #1 - likely pathogenic (recessive) g.94463568_94463603del g.93998012_93998047del p.Leu2184_Phe2193del - ABCA4_000805 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 55 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Unknown - likely pathogenic (recessive) g.94463568_94463603del g.93998012_93998047del c.6543del36bp, (p.Leu2182>Phe2193del) - ABCA4_000805 - PubMed: Kellner 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 2930 PubMed: Kellner 2009 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Unknown - likely pathogenic (recessive) g.94463568_94463603del g.93998012_93998047del het c.6545_6580del p.Leu2184_Phe2193del - ABCA4_000805 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 75 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Parent #2 - likely pathogenic (recessive) g.94463566_94463601del - c.6545_6580del36bp/ p.(Leu2184_Phe2193del) - ABCA4_000805 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 24 PubMed: Müller 2020 - M ? Germany - - - - - 1 LOVD
+?/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Unknown - likely pathogenic (recessive) g.94463566_94463601del - c.6545_6580del - ABCA4_000805 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - - retinal disease 70535 PubMed: Khan 2020 - F - Italy - - - - - 1 LOVD
+/. - c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Parent #2 - pathogenic (recessive) g.94463568_94463603del g.93998012_93998047del - - ABCA4_000805 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0147 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Parent #2 - pathogenic (recessive) g.94463568_94463603del g.93998012_93998047del - - ABCA4_000805 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0843 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Unknown - pathogenic (recessive) g.94463568_94463603del g.93998012_93998047del - - ABCA4_000805 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0862 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
?/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Parent #2 ACMG VUS g.94463568_94463603del g.93998012_93998047del - - ABCA4_000805 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073340 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
?/. 48 c.6545_6580del r.(?) p.(Leu2182_Phe2193del) Parent #2 ACMG VUS g.94463568_94463603del g.93998012_93998047del - - ABCA4_000805 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073342 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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