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.

36102 entries on 362 pages. Showing entries 1 - 100.
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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     
?/. 17i_50 c.(2653+1_2654-1)_(*1_?)del r.? p.? Unknown ACMG VUS g.(?_94458792)_(94514514_94517188)del g.(?_93993236)_(94048958_94051632)del - - ABCA4_002890 ACMG PVS1_S, PM2_sup; severity category not assesed Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 22i_50_ c.(3328+1_3523-1)_*400{0} r.? p.? Unknown - VUS g.(?_94458393)_(94505684_94508316)del g.(?_93992837)_(94040128_94042760)del - - ABCA4_002595 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0512 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. 48i_50_ c.(6729+1_6730-1)_(*1_?)del r.? p.? Unknown ACMG likely pathogenic g.(?_94458792)_(94461752_94463416)del g.(?_93993236)_(93996196_93997860)del - - NPHS2_000000 ACMG PVS1_S, PM2_sup, PM3_sup; severity category severe Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 49i_50_ c.(6816+1_6817-1)_(*1_?)del r.? p.? Unknown ACMG VUS g.(?_94458792)_(94458799_94461664)del g.(?_93993236)_(93993243_93996108)del - - ABCA4_002889 ACMG PVS1_S, PM2_sup; severity category not assesed Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 44 c.*10C>A r.(?) p.? Unknown ACMG VUS g.94458783G>T g.93993227G>T - - ABCA4_000874 ACMG PM3, PP3_m; severity category mild/moderate Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.*55G>A r.(?) p.? Unknown ACMG VUS g.94458738C>T g.93993182C>T - - ABCA4_001553 ACMG PM2_sup, PM3_sup, PP3_m; severity category benign Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1_1i c.-104_(66+1_67-1){0} r.0? p.0? Parent #1 - VUS g.(94578623_94586535)_(94586602_?)del g.(94113067_94120979)_(94121046_?)del - - ABCA4_002758 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0506 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. 1_40i c.-104_5714+250{0} r.0? p.0? Unknown ACMG likely pathogenic g.94476106_94586955del g.94010550_94121399del c.-354_5714+250del - ABCA4_002291 ACMG PVS1, PM2_sup; severity category not assesed Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 24_50 c.3525_*400{0} r.? p.? Unknown ACMG likely pathogenic g.94402743_94505682del g.93937187_94040126del c.3524_*56050del - ABCA4_002888 ACMG PVS1, PM2_sup; severity category not assesed Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 39i c.5585-164_*400{0} r.(?) p.(?) Unknown - pathogenic (recessive) g.94457537_94476649del g.93991981_94011093del [5585-166_*1254del] - ABCA4_001552 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P12G7 PubMed: Bauwens 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 39i_50_ c.5585-164_*400{0} r.? p.? Unknown ACMG likely pathogenic g.94457539_94476651del g.93991983_94011095del c.5585-164_*1256del - ABCA4_001552 ACMG PVS1, PM2_sup; severity category not assesed Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.-4263834_*647310del r.? p.? Unknown - pathogenic g.93811483_98850435del - - - DPYD_000017 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. 1 c.-92C>T r.(?) p.(?) Unknown - VUS g.94586693G>A g.94121137G>A c.-92C>T, Heterozygous - ABCA4_002258 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1018-1542 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 1 c.-92C>T r.(?) p.(?) Unknown ACMG likely benign g.94586693G>A g.94121137G>A - - ABCA4_002258 ACMG PM2_sup, BP4_m; severity category not assesed Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-14G>A r.(?) p.(?) Unknown - VUS g.94586615C>T g.94121059C>T c.2588G>C p.Gly863Ala - ABCA4_002257 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0160 PubMed: Georgiou 2019 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
-?/. 1 c.-14G>A r.(?) p.(?) Unknown ACMG likely benign g.94586615C>T g.94121059C>T - - ABCA4_002257 ACMG PM2_sup, BP4_m; severity category not assesed Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _1_24 c.(?_-1)_3525del r.0? p.0? Unknown ACMG likely pathogenic g.94505681_(94586602_?)del g.94040125_(94121046_?)del - - ABCA4_002897 ACMG PVS1, PM2_sup; severity category not assesed Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _1_50_ c.-104_*400{0} r.0 p.0 Unknown - likely pathogenic g.(?_94458792)_(94586602_?)del g.(?_93993236)_(94121046_?)del c.(?_1)_(6822_?)del - ABCA4_000000 deletion encompassing region flanked by extragenic markers D1S435 and D1S2793 PubMed: Valverde 2006 - - Germline - - - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006 - F ? Spain - - - - - 1 Stéphanie Cornelis
+/. 14i_17i c.(2160+1_2161-1)_(2653+1_2654-1) r.(?) p.(?) Unknown - pathogenic (recessive) g.(94514514_94517188)_(94522379_94526092)del g.(94048958_94051632)_(94056823_94060536)del del ex15-17 - ABCA4_002591 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1089-2521 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 17i_50_ c.(2653+1_2654-1)_*400{0} r.? p.(Gly885Valfs*71) Maternal (confirmed) ACMG pathogenic g.(?_94458393)_(94514514_94517188)del g.(?_93992837)_(94048958_94051632)del - - ABCA4_002592 - PubMed: Tracewska 2019 - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 302 PubMed: Tracewska 2019 proband F no Poland Slavic - - yes - 1 Anna Tracewska
+/. 17i_50_ c.(2653+1_2654-1)_*400{0} r.? p.? Unknown - pathogenic (recessive) g.(?_94458393)_(94514514_94517188)del g.(?_93992837)_(94048958_94051632)del c.(2653+1_2654-1)_(*1_?)del - ABCA4_002592 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71233 PubMed: Khan 2020 - F - Poland - - - - - 1 LOVD
+?/. 23i_50_ c.(3522+1_3523-1)_*400{0} r.? p.? Unknown - likely pathogenic g.(?_94402743)_(94505684_94506764)del g.(?_93937187)_(94040128_94041208)del chr1:g.94402743_94505682del - ABCA4_002761 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007755 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 49i_50_ c.(6817-1_6818+1)_*400{0} r.? p.? Unknown - pathogenic (recessive) g.(?_94458393)_(94458796_94458799)del g.(?_93992837)_93993240_93993243)del c.(6816+1_6817-1)_(*1_?)del# - ABCA4_002590 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 25 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. - c.0? r.0? p.(?) Unknown - likely pathogenic g.94476106_94586955del g.94010550_94121399del ABCA4 chr1:94476106_94586955del - ABCA4_002291 range 110244-110849 bp in various techniques, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, PCRq blood - retinal disease OGI655_001331 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. 36 c.? r.(?) p.(?) Unknown - likely pathogenic g.? - deletion - ABCA4_000000 - PubMed: Birch 2001 - - Germline ? - - - - DNA PCR, SEQ - - CORD - PubMed: Birch 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. ? c.? r.(?) p.(?) Unknown - likely pathogenic g.? - c.3385C>T - ABCA4_000000 - PubMed: Zernant 2011 - - Germline ? - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. ? c.? r.(?) p.(?) Unknown - VUS g.? - Y850K - ABCA4_000000 - PubMed: Testa 2012 - - Germline ? - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. ? c.? r.(?) p.? Unknown - pathogenic g.? - D654N - ABCA4_000000 - PubMed: Cideciyan 2009 - - Germline ? - - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - 5226delC - NPHS2_000000 - PubMed: Zolnikova 2017 - - Germline - - - - - DNA SEQ-NG - 325-gene panel retinal disease P020 PubMed: Zolnikova 2017 - - - Russia Belarus - - - - 1 LOVD
+?/. - c.? r.? p.? Parent #1 - likely pathogenic g.? - 3896G>T intronic - NPHS2_000000 - PubMed: Zolnikova 2017 - - Germline - - - - - DNA SEQ-NG - 325-gene panel retinal disease P036 PubMed: Zolnikova 2017 - - - Russia Russia - - - - 1 LOVD
-?/. - c.? r.? p.? Parent #1 - likely benign g.? - IVS50-131ins/del - NPHS2_000000 - PubMed: Downs 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Downs 2007 - - - - - - - - - 1 Julia Lopez
+/. 38 c.? r.(?) p.(?) Unknown - pathogenic (recessive) g.? - 11-basepair deletion in exon 38 - NPHS2_000000 no variant 2nd chromosome PubMed: Oh 2004 - - Unknown - - - - - DNA SEQ - - retinal disease Patient 1 PubMed: Oh 2004 - F no United States - - - - - 1 Stéphanie Cornelis
+/. 23i_50_ c.? r.(?) p.(?) Unknown - pathogenic (recessive) g.? - deletion 1:94402743-94505682 - NPHS2_000000 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G007755 PubMed: Carss 2017 - M ? England Asia-S - - - - 1 Stéphanie Cornelis
+?/. 23 c.? r.(?) p.? Unknown - likely pathogenic g.? - c.3482C>A - ABCA4_000000 - PubMed: _Audo-2012 - - Unknown - - - - - DNA SEQ, SEQ-NG-S blood - retinal disease - PubMed: _Audo-2012 Patients with unsolved genotype and unlikely disease causing mutations, but reported as polymorphism - - - - - - - - 1 LOVD
+?/. 13 c.? r.(?) p.? Unknown - likely pathogenic g.94528142C>T - c.1928G>A - ABCA4_000000 - PubMed: Eisenberger-2013 - rs114572202 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F no Germany - - - - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - E636X - NPHS2_000000 - PubMed: Shanks 2013 - - Germline - - - - - DNA SEQ-NG, PCR - - retinal disease - PubMed: Shanks-2013 - - - - - - - - - 1 LOVD
?/. - c.? r.(?) p.(W439*) Unknown - VUS g.? - p.W439X - NPHS2_000000 - PubMed: Matsui 2015 - - Germline - - - - - DNA PE - - retinal disease - PubMed: Matsui 2015 - F - United States - - - - - 1 LOVD
+?/. - c.? r.? p.? Paternal (confirmed) ACMG likely pathogenic (recessive) g.94452244_94471761del - - - ABCA4_000000 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-397 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.? r.? p.? Unknown ACMG likely pathogenic (recessive) g.94586187_94587411del - - - ABCA4_000000 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-455 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.0? Both (homozygous) - pathogenic g.94586601T>C g.94121045T>C c.6089G>A p.Arg2030Gln rs61750641 (homozygous) - ABCA4_000264 - PubMed: Eisenberger 2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ - - retinal disease - PubMed: Eisenberger 2013 - F yes Germany German - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? Parent #2 - likely pathogenic g.94586601T>C g.94121045T>C c.[1A>G]+[6089G>A] - ABCA4_000264 - PubMed: Maia-Lopes 2009 - - Germline - - - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? Parent #1 - likely pathogenic g.94586601T>C g.94121045T>C M1V/R2030Q - ABCA4_000264 - PubMed: Burke 2010 - - Germline - - - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? Parent #1 - likely pathogenic g.94586601T>C g.94121045T>C M1V;R2030Q - ABCA4_000264 - PubMed: Maia-Lopes 2008 - - Germline - - - - - DNA PE, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2008 Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well. F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? Parent #1 - likely pathogenic g.94586601T>C g.94121045T>C Met1Val;Arg2030Gln - ABCA4_000264 - PubMed: Oldani 2012 - - Germline ? - - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? Unknown - likely pathogenic g.94586601T>C g.94121045T>C Met1Val - ABCA4_000264 - PubMed: Oldani 2012 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? Parent #1 - likely pathogenic g.94586601T>C g.94121045T>C 1A>G - ABCA4_000264 - PubMed: Downes 2012 - - Germline - - - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? Unknown - likely pathogenic g.94586601T>C g.94121045T>C [c.1A>G;p.R2030Q] - ABCA4_000264 - PubMed: Nõupuu 2014 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2014 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(1a>g) p.(Met1?) Parent #1 ACMG likely pathogenic (recessive) g.94586601T>C g.94121045T>C - - ABCA4_000264 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.1A>G r.(?) p.0? Unknown - pathogenic g.94586601T>C g.94121045T>C - - ABCA4_000264 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - F no Israel Jewish-Ashkenazi - - - - 1 Dror Sharon
+/. - c.1A>G r.(?) p.0? Parent #1 ACMG pathogenic g.94586601T>C - c.[1A>G;6089G>A] - ABCA4_000264 - 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
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C M1V - ABCA4_000264 segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0039 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G p.(M1?) - ABCA4_000264 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 371 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Parent #1 - pathogenic (recessive) g.94586601T>C g.94121045T>C c.[1A>G;6089G>A] (p.[?;Arg2030Gln]) - ABCA4_000264 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3586 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Parent #1 - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G (p.?) - ABCA4_000264 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3016 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Parent #1 - pathogenic (recessive) g.94586601T>C g.94121045T>C c.[1A>G;6089G>A] (p.[?;Arg2030Gln]) - ABCA4_000264 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3236 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G - ABCA4_000264 - PubMed: Cai 2018 - - Unknown - - - - - DNA ? - - retinal disease P4 PubMed: Cai 2018 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G, p.Met1Val(splice site alteration) - ABCA4_000264 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11015 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G, p.Met1Val(splice site alteration) - ABCA4_000264 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11026 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G, p.Met1Val(splice site alteration) - ABCA4_000264 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12025 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Both (homozygous) - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G p.(Met1?) - ABCA4_000264 - PubMed: Tayebi 2019 - - Unknown - - - - - DNA MIPsm, SEQ - exons retinal disease 66,592 PubMed: Tayebi 2019 - - ? Iran Iran - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.[1A>G;6089G>A] - ABCA4_000264 - PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 775 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Parent #1 - pathogenic (recessive) g.94586601T>C g.94121045T>C c.[1A>G;6089G>A] p.[Met1Val;Arg2030Gln] - ABCA4_000264 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0555 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G p.(Met1?) - ABCA4_000264 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1222 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G p.Met1? het - ABCA4_000264 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2016-196-026 Prevention Genetics - - ? - Jewish-Ashkenazi - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C het c.1A>G p.Met1Val - ABCA4_000264 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 29 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G, p.Met1Val heterozygous - ABCA4_000264 - PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 6070-626 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G, p.Met1Val heterozygous - ABCA4_000264 - PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 6437-817 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.? p.? Both (homozygous) - pathogenic g.94586601T>C - c.1A>G - ABCA4_000264 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ - - retinal disease - PubMed: Eisenberger 2013 - F yes Germany German - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.94586601T>C g.94121045T>C ABCA4 Ex.1 c.1A>G p.(?), Ex.22 c.3210_3211dup p.(Ser1071Cysfs*14), ABCA4: Ex.44 c.6089G>A p.(Arg2030Gln) - ABCA4_000264 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1112 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 1 c.1A>G r.(?) p.(Met1?) Both (homozygous) - likely pathogenic g.94586601T>C g.94121045T>C c.1A>G, p.(Met1?) - ABCA4_000264 Homozygous PubMed: Tayebi 2019 - - Germline yes - - - - DNA SEQ-NG-I blood 108-gene panel targeted resequencing using MIPs library prep retinal disease 066592 PubMed: Tayebi 2019 - - - Iran - - - - - 1 LOVD
+?/. 1 c.1A>G r.? p.? Unknown - likely pathogenic g.94586601T>C - c.1A>G - ABCA4_000264 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+/. 1 c.1A>G r.? p.(Met1Val) Parent #1 ACMG pathogenic (recessive) g.94586601T>C - - - ABCA4_000264 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#66 Bianco 2023, submitted - M no Italy - - - - - 1 Lorenzo Bianco
+/. - c.1A>G r.(?) p.? Unknown - pathogenic g.94586601T>C - - - ABCA4_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 ACMG likely pathogenic (recessive) g.94586601T>C g.94121045T>C - - ABCA4_000264 - 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.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic (recessive) g.94586601T>C g.94121045T>C - - ABCA4_000264 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0438 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic (recessive) g.94586601T>C g.94121045T>C - - ABCA4_000264 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0496 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic (recessive) g.94586601T>C g.94121045T>C - - ABCA4_000264 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease L-0561 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic (recessive) g.94586601T>C g.94121045T>C - - ABCA4_000264 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-425 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 ACMG pathogenic g.94586601T>C g.94121045T>C - - ABCA4_000264 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072797 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 ACMG pathogenic g.94586601T>C g.94121045T>C - - ABCA4_000264 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074083 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 1 c.1_3delinsGTC r.(?) p.0? Unknown - pathogenic g.94586599_94586601delinsGAC g.94121043_94121045delinsGAC ATG>GTC - ABCA4_000262 - PubMed: Briggs 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 1 c.1_3delinsGTC r.(?) p.(Met1?) Parent #1 ACMG VUS g.94586599_94586601delinsGAC g.94121043_94121045delinsGAC - - ABCA4_000262 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _1_50_ c.-104_*400{0} r.0 p.0 Parent #1 ACMG likely pathogenic (recessive) g.(?_94458792)_(94586602_?)del g.(?_93993236)_(94121046_?)del del gene, c.(?_-1)_(*1_?)del - ABCA4_000862 deletion entire ABCA4 gene PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.2T>C r.(?) p.0? Both (homozygous) - pathogenic g.94586600A>G g.94121044A>G c.2T<C - ABCA4_000263 - PubMed: Maia-Lopes 2009 - - Germline - 2, 121346, 0, 0.00001648 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.2T>C r.(?) p.0? Unknown - likely pathogenic g.94586600A>G g.94121044A>G M1T - ABCA4_000263 - PubMed: Maia-Lopes 2008 - - Germline - - - - - DNA PE, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2008 Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well. M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.2T>C r.(2u>c) p.(Met1?) Parent #1 ACMG likely pathogenic (recessive) g.94586600A>G g.94121044A>G - - ABCA4_000263 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.2T>C r.(?) p.(=,?) Unknown - pathogenic (recessive) g.94586600A>G g.94121044A>G Codon 1 ATG-ACG Met-Thr - ABCA4_000263 no variant 2nd chromosome PubMed: Maia-Lopes 2008 - - Unknown - - - - - DNA ? - - retinal disease Unknown 59 PubMed: Maia-Lopes 2008 - - ? Portugal - - - - - 1 Stéphanie Cornelis
+?/. - c.2T>C r.(?) p.(Met1?) Unknown ACMG likely pathogenic g.94586600A>G g.94121044A>G - - ABCA4_000263 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 070809 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. 1 c.3G>A r.(?) p.0? Unknown - likely pathogenic g.94586599C>T g.94121043C>T c.3G>A - ABCA4_000261 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.12). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Riveiro-Alvarez 2013 - - Germline ? 3, 121340, 0, 0.00002472 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.3G>A r.(3g>a) p.(Met1?) Parent #1 ACMG likely pathogenic (recessive) g.94586599C>T g.94121043C>T - - ABCA4_000261 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.3G>A r.(?) p.(Met1Ile) Unknown - pathogenic (recessive) g.94586599C>T g.94121043C>T c.3G>A - ABCA4_000261 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F30 P35 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
+/. 1 c.3G>T r.(?) p.(?) Unknown - pathogenic (recessive) g.94586599C>A g.94121043C>A c.3G>T, Heterozygous - ABCA4_002256 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 5042-6995 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 1 c.3G>T r.(?) p.(Met1?) Unknown ACMG VUS g.94586599C>A g.94121043C>A - - ABCA4_002256 ACMG PVS1_M, PM2_sup, PM5; severity category uncertain Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.16C>T r.(?) p.(Gln6*) Unknown - pathogenic (recessive) g.94586586G>A g.94121030G>A c.16C>T, p.Gln6Ter - ABCA4_002255 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11029 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 1 c.16C>T r.(?) p.(Gln6Ter) Parent #1 ACMG likely pathogenic g.94586586G>A g.94121030G>A - - ABCA4_002255 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073318 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 1 c.16C>T r.(?) p.(Gln6Ter) Unknown ACMG pathogenic g.94586586G>A g.94121030G>A - - ABCA4_002255 ACMG PVS1, PM2_sup, PP3_m; severity category severe Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.18_19del r.(?) p.(Gln6HisfsTer47) Unknown ACMG likely pathogenic (recessive) g.94586584_94586585del g.94121028_94121029del - - ABCA4_002370 - - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - - - Mexico - - - - - 1 Nancy Xilotl de Jesús
+?/. 1 c.20T>A r.(?) p.(Ile7Lys) Unknown - likely pathogenic (recessive) g.94586582A>T g.94121026A>T c.20T>A, p.Ile7Lys Heterozygous - ABCA4_002254 - PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 502-1043 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 1 c.20T>A r.(?) p.(Ile7Lys) Unknown ACMG VUS g.94586582A>T g.94121026A>T - - ABCA4_002254 ACMG PM2_sup; severity category uncertain Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.21dup r.(?) p.(Gln8Hisfs*33) Parent #1 - pathogenic (recessive) g.94586581dup g.94121025dup p.[Gln8fs];c.[5461-10T>C] - ABCA4_002253 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 20 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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