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.

110 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
+/. 35i c.5018+2T>C r.spl? p.(?) Both (homozygous) - pathogenic g.94486794A>G g.94021238A>G 5018+2T>C - ABCA4_000478 - PubMed: Simonelli 2000 - - Germline yes - - - - DNA SSCA, HD - - ? - PubMed: Simonelli 2000 3-generation family, 1 affected M ? Italy Italian, south - - - - 1 Stéphanie Cornelis
?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - VUS g.94486794A>G g.94021238A>G 5018+2T>C - ABCA4_000478 - PubMed: Simonelli 2000 - - Germline - - - - - DNA SSCA, HD - - ? - PubMed: Simonelli 2000 3-generation family, 2 affected M ? Italy Italian, south - - - - 1 Stéphanie Cornelis
?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - VUS g.94486794A>G g.94021238A>G 5018+2T>C - ABCA4_000478 - PubMed: Simonelli 2000 - - Germline - - - - - DNA SSCA, HD - - ? - PubMed: Simonelli 2000 3-generation family, 2 affected F ? Italy Italian, south - - - - 1 Stéphanie Cornelis
?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - VUS g.94486794A>G g.94021238A>G 5018+2T>C - ABCA4_000478 - PubMed: Fumagalli 2001 - - Germline - - - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
?/. 35i c.5018+2T>C r.spl? p.? Parent #1 - VUS g.94486794A>G g.94021238A>G 5018+2T>C; G1961E - ABCA4_000478 - PubMed: Fumagalli 2001 - - Germline - - - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl? p.(?) Both (homozygous) - pathogenic g.94486794A>G g.94021238A>G 5018+2tC - ABCA4_000478 - PubMed: Simonelli 2005 - - Germline ? - - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G 5018+2tC - ABCA4_000478 - PubMed: Simonelli 2005, PubMed: Testa 2012 - - Germline ? - - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005, PubMed: Testa 2012 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G 5018+2tC - ABCA4_000478 - PubMed: Simonelli 2005 - - Germline - - - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 2 affected family members ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G 5018+2tC - ABCA4_000478 - PubMed: Simonelli 2005 - - Germline - - - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 2 affected family members ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G 5018+2tC - ABCA4_000478 - PubMed: Simonelli 2005 - - Germline - - - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 4 affected family members ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G 5018+2tC - ABCA4_000478 - PubMed: Simonelli 2005 - - Germline - - - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 4 affected family members ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G 5018+2tC - ABCA4_000478 - PubMed: Simonelli 2005 - - Germline - - - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 4 affected family members ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G 5018+2tC - ABCA4_000478 - PubMed: Simonelli 2005 - - Germline - - - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 4 affected family members ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - VUS g.94486794A>G g.94021238A>G IVS35+2t>c - ABCA4_000478 - PubMed: Passerini 2010, PubMed: Sodi 2010 - - Germline ? - - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G IVS35+2t>c - ABCA4_000478 - PubMed: Passerini 2010, PubMed: Sodi 2010, PubMed: Testa 2012 - - Germline - - - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010, PubMed: Testa 2012 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - VUS g.94486794A>G g.94021238A>G IVS35+2t>c - ABCA4_000478 - PubMed: Passerini 2010, PubMed: Sodi 2010 - - Germline ? - - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G IVS35+2t>c - ABCA4_000478 - PubMed: Passerini 2010 - - Germline - - - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - VUS g.94486794A>G g.94021238A>G c.5018+2T>C - ABCA4_000478 - PubMed: Stenirri 2008 - - Germline - - - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Stenirri 2008 Mutations were described separately. Therefore, it is possible that additional mutations were found. ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G IVS35+2t>c - ABCA4_000478 - PubMed: Testa 2012 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G IVS35+2t>c - ABCA4_000478 - PubMed: Testa 2012 - - Germline ? - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G IVS35+2t>c - ABCA4_000478 - PubMed: Testa 2012 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G IVS35+2t>c - ABCA4_000478 - PubMed: Testa 2012 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G IVS35+2t>c - ABCA4_000478 - PubMed: Testa 2012 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G IVS35+2t>c - ABCA4_000478 - PubMed: Testa 2012 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl? p.(?) Unknown - pathogenic g.94486794A>G g.94021238A>G IVS35+2t>c - ABCA4_000478 - PubMed: Testa 2012 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G 5018+2T>C - ABCA4_000478 - PubMed: Downes 2012 - - Germline - - - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G 5018+2T>C - ABCA4_000478 - PubMed: Downes 2012 - - Germline - - - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl? p.(?) Unknown - pathogenic g.94486794A>G g.94021238A>G c.5018+2T>C - ABCA4_000478 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G 5018+2T>C - ABCA4_000478 - PubMed: Gemenetzi 2013 - - Germline - - - - - DNA PE - APEX STGD1 - PubMed: Gemenetzi 2013 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - VUS g.94486794A>G g.94021238A>G c.5018+2T>C - ABCA4_000478 - PubMed: Fujinami 2013 - - Germline - - - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - VUS g.94486794A>G g.94021238A>G c.5018+2T>C - ABCA4_000478 - PubMed: Fujinami 2013 - - Germline - - - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G c.5018+2T>C - ABCA4_000478 - PubMed: Nõupuu 2014 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2014 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G c.5018+2T>C - ABCA4_000478 - PubMed: Nõupuu 2014 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2014 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35i c.5018+2T>C r.spl? p.(?) Unknown - likely pathogenic g.94486794A>G g.94021238A>G c.5018+2T>C - ABCA4_000478 - PubMed: Bauwens 2014 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 4-generation family, 2 affected F ? Belgium - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl? p.(?) Unknown - pathogenic g.94486794A>G g.94021238A>G IVS35+2T>C - ABCA4_000478 - PubMed: Cideciyan 2009 - - Germline yes - - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Parent #1 ACMG pathogenic (recessive) g.94486794A>G g.94021238A>G - - ABCA4_000478 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5018+2T>C r.spl? p.? Unknown - pathogenic g.94486794A>G g.94021238A>G - - ABCA4_000478 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 35i c.5018+2T>C r.spl p.? Parent #1 - pathogenic g.94486794A>G g.94021238A>G - - ABCA4_000478 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Parent #1 - pathogenic g.94486794A>G g.94021238A>G - - ABCA4_000478 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. - c.5018+2T>C r.(?) p.(?) Unknown ACMG pathogenic g.94486794A>G - - - ABCA4_000478 ACMG grading: PVS1,PM2,PP5 Burke et al. 2012. Ophthalmic Genet 34: 75; Riveiro-Alvarez et al. 2013. Ophthalmology 120: 2332; Downes et al. 2012. Arch Ophthalmol 130: 1486 - rs61750562 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+?/. - c.5018+2T>C r.spl? p.? Unknown - likely pathogenic g.94486794A>G - 1:94486794A>G ENST00000370225.3:c.5018+2T>C - ABCA4_000478 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G008168 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.5018+2T>C r.spl p.? Unknown - likely pathogenic g.94486794A>G g.94021238A>G - - ABCA4_000478 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13001831 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C - ABCA4_000478 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 28 PubMed: Sodi 2016 likely a sibling from patient 29 F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C - ABCA4_000478 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 29 PubMed: Sodi 2016 likely a sibling from patient 28 M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c5018+2C>T - ABCA4_000478 - PubMed: Sohrab 2010 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease Unknown 209 PubMed: Sohrab 2010 - M ? United States - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.94486794A>G g.94021238A>G IVS 35+2 T>C - ABCA4_000478 - PubMed: Burke 2013 - - Unknown yes - - - - DNA ? - - retinal disease Unknown 316 PubMed: Burke 2013 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Parent #1 - pathogenic (recessive) g.94486794A>G g.94021238A>G c.[5018+2T>C];p.[Ser2072Asn] - ABCA4_000478 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 32 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C p.(?) - ABCA4_000478 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 498 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C (p.?) - ABCA4_000478 - PubMed: Rizzo 2017 - - Unknown - - - - - DNA ? - - retinal disease Unknown 570 PubMed: Rizzo 2017 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C (p.?) - ABCA4_000478 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 33 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C (p.?) - ABCA4_000478 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3399 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C (p.?) - ABCA4_000478 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3453 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C (p.?) - ABCA4_000478 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3687 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C - ABCA4_000478 - PubMed: Tanaka 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 16 PubMed: Tanaka 2018 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C, splice sitealteration - ABCA4_000478 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13060 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C, splice sitealteration - ABCA4_000478 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13080 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C, splice sitealteration - ABCA4_000478 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14053 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Parent #1 - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C p.(?) - ABCA4_000478 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67133 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C p.(?) - ABCA4_000478 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67188 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G IVS35+2t>c - ABCA4_000478 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 2. PubMed: Piccardi 2019 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G IVS35+2t>c - ABCA4_000478 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 39. PubMed: Piccardi 2019 - M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G ENST00000370225.3:c.5018+2T>C NA 0/1 - ABCA4_000478 no variant 2nd chromosome PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G008168 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C/p.? - ABCA4_000478 - PubMed: Weisschuh 2020 - - Unknown yes - - - - DNA SEQ - - retinal disease 697 PubMed: Weisschuh 2020 - - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C/p.? - ABCA4_000478 - PubMed: Weisschuh 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 322 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.IVS35+2T>c.5018+2T>C, Heterozygous - ABCA4_000478 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2015-3519 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C, Heterozygous - ABCA4_000478 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2275-2933 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C, heterozygous - ABCA4_000478 - PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 91-764 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Parent #2 - pathogenic (recessive) g.94486794A>G g.94021238A>G IVS35_x005F_x0003_2T_x005F_x0004_C - ABCA4_000478 - PubMed: Cideciyan 2012 - - Unknown yes - - - - DNA ? - - retinal disease P20 PubMed: Cideciyan 2012 - M ? United States - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Parent #2 - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C - - ABCA4_000478 - PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 73 PubMed: Cideciyan 2015 sibling of patient 74 F ? - - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Parent #2 - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C - - ABCA4_000478 - PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 74 PubMed: Cideciyan 2015 sibling of patient 73 M ? - - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C - ABCA4_000478 - PubMed: Olivo 2015PubMed: Melillo 2018PubMed: Melillo 2020 - - Unknown - - - - - DNA ? - - retinal disease Unknown 339; 16; C4 PubMed: Olivo 2015PubMed: Melillo 2018PubMed: Melillo 2020 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C Splice - ABCA4_000478 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 16803 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G Het NM_000350.2: c.5018+2T>C - ABCA4_000478 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 20 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C, splice sitealteration - ABCA4_000478 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 16018 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G ABCA4 c.5018+2T>C het - ABCA4_000478 - PubMed: Ellingford 2016 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 13001831 PubMed: Ellingford 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C p.(?) - ABCA4_000478 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 31 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.5018+2T>C p.(?) - ABCA4_000478 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 42 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+/. 35i c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G c.IVS35+2T>C, Heterozygous - ABCA4_000478 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 6484-5467 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. - c.5018+2T>C r.spl p.? Unknown - pathogenic g.94486794A>G g.94021238A>G ABCA4 c.5018+2T>C, - ABCA4_000478 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008168 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. 35i c.5018+2T>C r.spl? p.? Unknown - likely pathogenic g.94486794A>G - c.5018+2T>C - ABCA4_000478 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 35i c.5018+2T>C r.spl? p.? Unknown - likely pathogenic g.94486794A>G - c.5018+2T>C - ABCA4_000478 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 35i c.5018+2T>C r.spl? p.? Unknown - likely pathogenic g.94486794A>G - c.5018+2T>C - ABCA4_000478 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 35i c.5018+2T>C r.spl? p.? Unknown - likely pathogenic g.94486794A>G - c.5018+2T>C - ABCA4_000478 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 35i c.5018+2T>C r.spl? p.? Unknown - likely pathogenic g.94486794A>G - c.5018+2T>C - ABCA4_000478 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+/. - c.5018+2T>C r.spl p.? Unknown ACMG pathogenic g.94486794A>G g.94021238A>G ABCA4 c.5018+2T>C, p.? - ABCA4_000478 heterozygous PubMed: Buhler 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood Trusight One retinal disease 8/III.2 PubMed: Buhler 2021 Family 8, individual III.2 ? - Switzerland - - - - - 1 LOVD
+/. 35i c.5018+2T>C r.spl p.(?) Unknown - pathogenic (recessive) g.94486794A>G - c.5018+2T>C - ABCA4_000478 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - - retinal disease 70506 PubMed: Khan 2020 - F - Italy - - - - - 1 LOVD
+/. 35i c.5018+2T>C r.spl p.(?) Unknown - pathogenic (recessive) g.94486794A>G - c.5018+2T>C - ABCA4_000478 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - - retinal disease 70517 PubMed: Khan 2020 - M - Italy - - - - - 1 LOVD
+/. 35i c.5018+2T>C r.spl p.(?) Unknown - pathogenic (recessive) g.94486794A>G - c.5018+2T>C - ABCA4_000478 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - - retinal disease 70519 PubMed: Khan 2020 - M - Italy - - - - - 1 LOVD
+/. 35i c.5018+2T>C r.spl p.(?) Unknown - pathogenic (recessive) g.94486794A>G - c.5018+2T>C - ABCA4_000478 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - - retinal disease 70521 PubMed: Khan 2020 - F - Italy - - - - - 1 LOVD
+/. 35i c.5018+2T>C r.spl p.(?) Unknown - pathogenic (recessive) g.94486794A>G - c.5018+2T>C - ABCA4_000478 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - - retinal disease 70532 PubMed: Khan 2020 - M - Italy - - - - - 1 LOVD
+/. 35i c.5018+2T>C r.spl p.(?) Unknown - pathogenic (recessive) g.94486794A>G - c.5018+2T>C - ABCA4_000478 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - - retinal disease 70533 PubMed: Khan 2020 - F - Italy - - - - - 1 LOVD
+?/. - c.5018+2T>C r.spl? p.? Unknown ACMG pathogenic (recessive) g.94486794A>G - - - ABCA4_000478 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#8 Bianco 2023, submitted - M no Italy - - - - - 1 Lorenzo Bianco
+/. - c.5018+2T>C r.spl? p.? Parent #1 ACMG pathogenic (recessive) g.94486794A>G - - - ABCA4_000478 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#46 Bianco 2023, submitted - M no Italy - - - - - 1 Lorenzo Bianco
+/. 35i c.5018+2T>C r.spl p.? Parent #1 ACMG pathogenic (recessive) g.94486794A>G g.94021238A>G - - ABCA4_000478 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat75 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.5018+2T>C r.spl p.? Unknown - pathogenic (recessive) g.94486794A>G g.94021238A>G - - ABCA4_000478 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0047 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
?/. - c.5018+2T>C r.spl p.? Unknown - VUS g.94486794A>G g.94021238A>G - - ABCA4_000478 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0122 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5018+2T>C r.spl p.? Parent #1 - pathogenic (recessive) g.94486794A>G g.94021238A>G - - ABCA4_000478 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0807 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5018+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.94486794A>G g.94021238A>G - - ABCA4_000478 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA MCA, SEQ - - retinal disease L-0909 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5018+2T>C r.spl p.? Parent #2 - pathogenic (recessive) g.94486794A>G g.94021238A>G - - ABCA4_000478 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0755 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5018+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.94486794A>G g.94021238A>G - - ABCA4_000478 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA MCA, SEQ - - retinal disease L-0909 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


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