All variants in the ABCA4 gene

Classification of variants: please note that where there are several records of the same variant, the classification
of that variant may be contradictory depending on the submitter’s conclusion. For the curator’s opinion on the
classification of the variant, please view a SUMMARY record.
This gene variant database is supported by the

To other Inherited Retinal Disease gene variant database:
Information The variants shown are described using the NM_000350.2 transcript reference sequence.

25826 entries on 259 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+?/. ? c.? r.(?) p.(?) - likely pathogenic g.? - 3340delC - ABCA4_000000 - PubMed: Briggs 2001 - - Germline ? - - 0 - Stéphanie Cornelis
+?/. ? c.? r.(?) p.(?) - likely pathogenic g.? - C6007T - ABCA4_000000 - PubMed: Nasonkin 1998 - - Germline ? - - 0 - Stéphanie Cornelis
+?/. ? c.? r.(?) p.(?) - likely pathogenic g.? - C6007T - ABCA4_000000 - PubMed: Nasonkin 1998 - - Germline ? - - 0 - Stéphanie Cornelis
+?/. 36 c.? r.(?) p.(?) - likely pathogenic g.? - deletion - ABCA4_000000 - PubMed: Birch 2001 - - Germline ? - - 0 - Stéphanie Cornelis
+/. ? c.? r.(?) p.(?) - pathogenic g.? - Y245X(735T>G) - ABCA4_000000 - PubMed: Stenirri 2004 - - Germline - - - 0 - Stéphanie Cornelis
+?/. ? c.? r.(?) p.(?) - likely pathogenic g.? - c.3385C>T - ABCA4_000000 - PubMed: Zernant 2011 - - Germline ? - - 0 - Stéphanie Cornelis
?/. ? c.? r.(?) p.(?) - VUS g.? - Y850K - ABCA4_000000 - PubMed: Testa 2012 - - Germline ? - - 0 - Stéphanie Cornelis
+/. ? c.? r.(?) p.? - pathogenic g.? - D654N - ABCA4_000000 - PubMed: Cideciyan 2009 - - Germline ? - - 0 - Stéphanie Cornelis
+/. 14i_17i c.(2160+1_2161-1)_(2653+1_2654-1) r.(?) p.(?) - pathogenic (recessive) g.? - Exon 15-17 Deletion, p.? Heterozygous - NPHS2_000000 - PubMed: Goetz 2020 - - Unknown - - - 0 - Stéphanie Cornelis
+/. - c.(2382+1_2382-1)_(2587+1_2587-1) r.spl p.(?) ACMG pathogenic g.? g.? ABCA4:NM_000350 Deletion ex. 16, p.? - NPHS2_000000 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - 0 - LOVD
+/. 17i_50 c.(2653+1_2654-1)_(*1_?)del r.(?) p.(Gly885Valfs*71) ACMG pathogenic g.? g.? - - NPHS2_000000 - PubMed: Tracewska 2019 - - Germline yes 0 (in-house database, ~5000 samples) - 0 - Anna Tracewska
+/. _1_49i c.(?_*1)_(6817-1_6818+1)del r.(?) p.(?) - pathogenic (recessive) g.? - c.(6816+1_6817-1)_(*1_?)del# - NPHS2_000000 - PubMed: Jespersgaard 2019 - - Unknown - - - 0 - Stéphanie Cornelis
+?/. 50 c.*10C>A r.(?) p.(Ala2037Asp) - likely pathogenic (recessive) g.94458783G>T g.93993227G>T c.*10C>A, Heterozygous - ABCA4_000874 - PubMed: Goetz 2020 - - Unknown - - - 0 - Stéphanie Cornelis
?/. 50 c.*55G>A r.(?) p.(?) - VUS g.94458738C>T g.93993182C>T c.*55G>A - ABCA4_001553 - PubMed: Zanolli 2020 - - Unknown - - - 0 - Stéphanie Cornelis
+?/. - c.0? r.0? p.(?) - 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 ? - - 0 - LOVD
+/. 39i c.5585-164_*400{0} r.(?) p.(?) - pathogenic (recessive) g.94457537_94476649del g.93991981_94011093del [5585-166_*1254del] - ABCA4_001552 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - 0 - Stéphanie Cornelis
+?/. - c.6006‐2A r.spl p.(?) ACMG likely pathogenic g.94471140T>C g.94005584T>C ABCA4 c.6006‐2A - ABCA4_002296 heterozygous PubMed: Dineiro 2020 - - Germline ? - - 0 - LOVD
+/. 19i_22i c.? r.? p.? - pathogenic (recessive) g.? - deletion ex20-22 - NPHS2_000000 - PubMed: Birtel 2018 - - Germline - - - 0 - LOVD
+/. 11i_13i c.? r.? p.? - pathogenic (recessive) g.? - deletion ex12-13 - NPHS2_000000 - PubMed: Birtel 2018 - - Germline - - - 0 - LOVD
+/. - c.? r.? p.? - pathogenic g.? - 5226delC - NPHS2_000000 - PubMed: Zolnikova 2017 - - Germline - - - 0 - LOVD
+/. - c.? r.? p.? - pathogenic g.94546240del g.94080684del 893delG - ABCA4_000000 - PubMed: Zolnikova 2017 - - Germline - - - 0 - LOVD
+?/. - c.? r.? p.? - likely pathogenic g.? - 3896G>T intronic - NPHS2_000000 - PubMed: Zolnikova 2017 - - Germline - - - 0 - LOVD
-?/. - c.? r.? p.? - likely benign g.? - IVS50-131ins/del - NPHS2_000000 - PubMed: Downs 2007 - - Germline - - - 0 - Julia Lopez
+/. 38 c.? r.(?) p.(?) - pathogenic (recessive) g.? - 11-basepair deletion in exon 38 - NPHS2_000000 no variant 2nd chromosome PubMed: Oh 2004 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 23i_50_ c.? r.(?) p.(?) - pathogenic (recessive) g.? - deletion 1:94402743-94505682 - NPHS2_000000 - PubMed: Carss 2017 - - Unknown - - - 0 - Stéphanie Cornelis
+/. - c.? r.(?) p.? - pathogenic g.? - Q2220X/Q2220X - NPHS2_000000 - PubMed: Shanks 2013 - - Germline - - - 0 - LOVD
+/. - c.? r.(?) p.? - pathogenic g.? - E636X - NPHS2_000000 - PubMed: Shanks 2013 - - Germline - - - 0 - LOVD
?/. - c.? r.(?) p.(W439*) - VUS g.? - p.W439X - NPHS2_000000 - PubMed: Matsui 2015 - - Germline - - - 0 - LOVD
+?/. - c.? r.0? p.0? - likely pathogenic g.94402743_94505682del - chr1:g.94402743_94505682del - ABCA4_000000 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - 0 - LOVD
./. - c.-4263834_*647310del r.? p.? - pathogenic g.93811483_98850435del - - - DPYD_000017 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
?/. 1 c.-92C>T r.(?) p.(?) - VUS g.94586693G>A g.94121137G>A c.-92C>T, Heterozygous - ABCA4_002258 - PubMed: Goetz 2020 - - Unknown - - - 0 - Stéphanie Cornelis
?/. 1 c.-14G>A r.(?) p.(?) - VUS g.94586615C>T g.94121059C>T c.2588G>C p.Gly863Ala - ABCA4_002257 - PubMed: Georgiou 2019 - - Unknown - - - 0 - Stéphanie Cornelis
+?/. _1_50_ c.(?_-1)_(*1_?)del r.0 p.0 - 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 - - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.0? - pathogenic g.94586601T>C g.94121045T>C c.6089G>A p.Arg2030Gln rs61750641 (homozygous) - ABCA4_000264 - PubMed: Eisenberger 2013 - - Germline - - - 0 - Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? - likely pathogenic g.94586601T>C g.94121045T>C c.[1A>G]+[6089G>A] - ABCA4_000264 - PubMed: Maia-Lopes 2009 - - Germline - - - 0 - Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? - likely pathogenic g.94586601T>C g.94121045T>C M1V/R2030Q - ABCA4_000264 - PubMed: Burke 2010 - - Germline - - - 0 - Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? - likely pathogenic g.94586601T>C g.94121045T>C M1V;R2030Q - ABCA4_000264 - PubMed: Maia-Lopes 2008 - - Germline - - - 0 - Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? - likely pathogenic g.94586601T>C g.94121045T>C Met1Val;Arg2030Gln - ABCA4_000264 - PubMed: Oldani 2012 - - Germline ? - - 0 - Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? - likely pathogenic g.94586601T>C g.94121045T>C Met1Val - ABCA4_000264 - PubMed: Oldani 2012 - - Germline - - - 0 - Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? - likely pathogenic g.94586601T>C g.94121045T>C 1A>G - ABCA4_000264 - PubMed: Downes 2012 - - Germline - - - 0 - Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? - likely pathogenic g.94586601T>C g.94121045T>C [c.1A>G;p.R2030Q] - ABCA4_000264 - PubMed: Nõupuu 2014 - - Germline - - - 0 - Stéphanie Cornelis
+/+ 1 c.1A>G r.(?) p.(Met1?) ACMG pathogenic g.94586601T>C g.94121045T>C - - ABCA4_000264 - PubMed: Cornelis 2017, Journal: Cornelis 2017 - - SUMMARY record - - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.0? - pathogenic g.94586601T>C g.94121045T>C - - ABCA4_000264 - Sharon, submitted - - Germline - - - 0 - Dror Sharon
+/. - c.1A>G r.(?) p.0? ACMG pathogenic g.94586601T>C - c.[1A>G;6089G>A] - ABCA4_000264 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - Global Variome, with Curator vacancy
+/. 1 c.1A>G r.(?) p.(Met1Val) - pathogenic (recessive) g.94586601T>C g.94121045T>C M1V - ABCA4_000264 segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G p.(M1?) - ABCA4_000264 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) - pathogenic (recessive) g.94586601T>C g.94121045T>C c.[1A>G;6089G>A] (p.[?;Arg2030Gln]) - ABCA4_000264 - PubMed: Zernant 2017 - - Unknown yes - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G (p.?) - ABCA4_000264 - PubMed: Zernant 2017 - - Unknown yes - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) - 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 - - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G - ABCA4_000264 - PubMed: Cai 2018 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G, p.Met1Val(splice site alteration) - ABCA4_000264 - PubMed: Fujinami 2019 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G, p.Met1Val(splice site alteration) - ABCA4_000264 - PubMed: Fujinami 2019 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G, p.Met1Val(splice site alteration) - ABCA4_000264 - PubMed: Fujinami 2019 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G p.(Met1?) - ABCA4_000264 - PubMed: Tayebi 2019 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) - pathogenic (recessive) g.94586601T>C g.94121045T>C c.[1A>G;6089G>A] - ABCA4_000264 - PubMed: Sharon 2019 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) - 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 - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G p.(Met1?) - ABCA4_000264 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G p.Met1? het - ABCA4_000264 - Prevention Genetics - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) - pathogenic (recessive) g.94586601T>C g.94121045T>C het c.1A>G p.Met1Val - ABCA4_000264 - PubMed: Gliem 2020 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G, p.Met1Val heterozygous - ABCA4_000264 - PubMed: Goetz 2020 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G, p.Met1Val heterozygous - ABCA4_000264 - PubMed: Goetz 2020 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.1A>G r.? p.? - pathogenic g.94586601T>C - c.1A>G - ABCA4_000264 - PubMed: Eisenberger-2013 - - Germline - - - 0 - LOVD
+?/. 1 c.1A>G r.(?) p.(Met1?) - 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) ? - - 0 - LOVD
+?/. 1 c.1A>G r.(?) p.(Met1?) - likely pathogenic g.94586601T>C g.94121045T>C c.1A>G, p.(Met1?) - ABCA4_000264 Homozygous PubMed: Tayebi 2019 - - Germline yes - - 0 - LOVD
+?/. 1 c.1A>G r.? p.? - likely pathogenic g.94586601T>C - c.1A>G - ABCA4_000264 - PubMed: Maggi_2021 - - Germline - - - 0 - LOVD
+/. 1 c.1_3delinsGTC r.(?) p.0? - pathogenic g.94586599_94586601delinsGAC g.94121043_94121045delinsGAC ATG>GTC - ABCA4_000262 - PubMed: Briggs 2001 - - Germline - - - 0 - Stéphanie Cornelis
+/+ 1 c.1_3delinsGTC r.(?) p.(Met1?) ACMG pathogenic g.94586599_94586601delinsGAC g.94121043_94121045delinsGAC - - ABCA4_000262 - PubMed: Cornelis 2017, Journal: Cornelis 2017 - - SUMMARY record - - - 0 - Stéphanie Cornelis
+/+ _1_50_ c.1_6822del r.0 p.0 ACMG pathogenic g.94458793_94586601del g.93993237_94121045del - - ABCA4_000862 - PubMed: Cornelis 2017, Journal: Cornelis 2017 - - SUMMARY record - - - 0 - Stéphanie Cornelis
+/. 1 c.2T>C r.(?) p.0? - pathogenic g.94586600A>G g.94121044A>G c.2T<C - ABCA4_000263 - PubMed: Maia-Lopes 2009 - - Germline - 2, 121346, 0, 0.00001648 - 0 - Stéphanie Cornelis
+?/. 1 c.2T>C r.(?) p.0? - likely pathogenic g.94586600A>G g.94121044A>G M1T - ABCA4_000263 - PubMed: Maia-Lopes 2008 - - Germline - - - 0 - Stéphanie Cornelis
+/+ 1 c.2T>C r.(?) p.(Met1?) ACMG pathogenic g.94586600A>G g.94121044A>G - - ABCA4_000263 - PubMed: Cornelis 2017, Journal: Cornelis 2017 - - SUMMARY record - - - 0 - Stéphanie Cornelis
+/. 1 c.2T>C r.(?) p.(=,?) - 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 - - - 0 - Stéphanie Cornelis
+?/. 1 c.3G>A r.(?) p.0? - 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 - 0 - Stéphanie Cornelis
+?/+? 1 c.3G>A r.(?) p.(Met1?) ACMG VUS 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 - - SUMMARY record - - - 0 - Stéphanie Cornelis
+/. 1 c.3G>A r.(?) p.(Met1Ile) - pathogenic (recessive) g.94586599C>T g.94121043C>T c.3G>A - ABCA4_000261 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.3G>T r.(?) p.(?) - pathogenic (recessive) g.94586599C>A g.94121043C>A c.3G>T, Heterozygous - ABCA4_002256 - PubMed: Goetz 2020 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.16C>T r.(?) p.(Gln6*) - pathogenic (recessive) g.94586586G>A g.94121030G>A c.16C>T, p.Gln6Ter - ABCA4_002255 - PubMed: Fujinami 2019 - - Unknown - - - 0 - Stéphanie Cornelis
+?/. 1 c.20T>A r.(?) p.(Ile7Lys) - likely pathogenic (recessive) g.94586582A>T g.94121026A>T c.20T>A, p.Ile7Lys Heterozygous - ABCA4_002254 - PubMed: Goetz 2020 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.21dup r.(?) p.(Gln8Hisfs*33) - pathogenic (recessive) g.94586581dup g.94121025dup p.[Gln8fs];c.[5461-10T>C] - ABCA4_002253 - PubMed: Fujinami 2015 - - Unknown yes - - 0 - Stéphanie Cornelis
+/. 1 c.21dup r.(?) p.(Gln8Hisfs*33) - pathogenic (recessive) g.94586581dup g.94121025dup c.21_22insA,p.Gln8ThrfsTer46 - ABCA4_002253 - PubMed: Fujinami 2019 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.21dup r.(?) p.(Gln8Hisfs*33) - pathogenic (recessive) g.94586581dup g.94121025dup c.20insA p.Q8fs - ABCA4_002253 - PubMed: Fakin 2016 - - Unknown - - - 0 - Stéphanie Cornelis
+?/. 1 c.22C>T r.(?) p.(Gln8*) - likely pathogenic g.94586580G>A g.94121024G>A c.22C>T - ABCA4_000260 - PubMed: Xin 2015 - - Germline ? - - 0 - Stéphanie Cornelis
?/? 1 c.22C>T r.(?) p.(Gln8*) ACMG VUS g.94586580G>A g.94121024G>A - - ABCA4_000260 not statistically tested, classification unknown PubMed: Cornelis 2017, Journal: Cornelis 2017 - - SUMMARY record - - - 0 - Stéphanie Cornelis
+/. - c.22C>T r.(?) p.(Gln8*) - pathogenic g.94586580G>A g.94121024G>A - - ABCA4_000260 - - - - Germline yes - - 0 - Handong Dan
+/. 1 c.22C>T r.(?) p.(Gln8*) - pathogenic (recessive) g.94586580G>A g.94121024G>A c.22C>T p.(Gln8*) - ABCA4_000260 - PubMed: Dan 2019 - - Unknown - - - 0 - Stéphanie Cornelis
+/. 1 c.29dup r.(?) p.(Leu10Phefs*44) - pathogenic (recessive) g.94586576dup g.94121020dup c.29_30insT p.Leu10PhefsTer44 - ABCA4_002252 no variant 2nd chromosome PubMed: Tanna 2019 - - Unknown - - - 0 - Stéphanie Cornelis
?/. 1 c.32T>C r.(?) p.(Leu11Pro) - VUS g.94586570A>G g.94121014A>G T31C - ABCA4_000154 - PubMed: Rozet 1998 - - Germline - ExAC 1, 121404, 0, 0.000008237 - 0 - Stéphanie Cornelis
+/. 1 c.32T>C r.(?) p.(Leu11Pro) - pathogenic g.94586570A>G g.94121014A>G 32T>C - ABCA4_000154 - PubMed: Valverde 2007 - - Germline - ExAC 1, 121404, 0, 0.000008237 - 0 - Stéphanie Cornelis
+/. 1 c.32T>C r.(?) p.(Leu11Pro) - pathogenic g.94586570A>G g.94121014A>G c.32T>C - ABCA4_000154 - PubMed: Maia-Lopes 2009 - - Germline - 1, 121404, 0, 0.000008237 - 0 - Stéphanie Cornelis
+?/. 1 c.32T>C r.(?) p.(Leu11Pro) - likely pathogenic g.94586570A>G g.94121014A>G c.32T>C - ABCA4_000154 - PubMed: Maia-Lopes 2009 - - Germline - 1, 121404, 0, 0.000008237 - 0 - Stéphanie Cornelis
?/. 1 c.32T>C r.(?) p.(Leu11Pro) - VUS g.94586570A>G g.94121014A>G c.32T>C - ABCA4_000154 - PubMed: Maia-Lopes 2009 - - Germline - 1, 121404, 0, 0.000008237 - 0 - Stéphanie Cornelis
+?/. 1 c.32T>C r.(?) p.(Leu11Pro) - likely pathogenic g.94586570A>G g.94121014A>G c.32T>C - ABCA4_000154 - PubMed: Maia-Lopes 2009 - - Germline - 1, 121404, 0, 0.000008237 - 0 - Stéphanie Cornelis
?/. 1 c.32T>C r.(?) p.(Leu11Pro) - VUS g.94586570A>G g.94121014A>G L11P - ABCA4_000154 - PubMed: Maia-Lopes 2008 - - Germline - 1, 121404, 0, 0.000008237 - 0 - Stéphanie Cornelis
+?/. 1 c.32T>C r.(?) p.(Leu11Pro) - likely pathogenic g.94586570A>G g.94121014A>G L11P - ABCA4_000154 - PubMed: Cideciyan 2009 - - Germline - 1, 121404, 0, 0.000008237 - 0 - Stéphanie Cornelis
+?/+? 1 c.32T>C r.(?) p.(Leu11Pro) ACMG likely pathogenic g.94586570A>G g.94121014A>G - - ABCA4_000154 - PubMed: Cornelis 2017, Journal: Cornelis 2017 - - SUMMARY record - - - 0 - Stéphanie Cornelis
+?/. 1 c.32T>C r.(?) p.(Leu11Pro) - likely pathogenic (recessive) g.94586570A>G g.94121014A>G c.32T>C, p.Leu11Pro - ABCA4_000154 - PubMed: Fujinami 2019 - - Unknown yes - - 0 - Stéphanie Cornelis
+?/. 1 c.32T>C r.(?) p.(Leu11Pro) - likely pathogenic (recessive) g.94586570A>G g.94121014A>G c.32T>C p. Leu11Pro - ABCA4_000154 - PubMed: Salles 2018 - - Unknown yes - - 0 - Stéphanie Cornelis
+?/. 1 c.32T>C r.(?) p.(Leu11Pro) - likely pathogenic (recessive) g.94586570A>G g.94121014A>G c.32T>C p.(Leu11Pro) - ABCA4_000154 - PubMed: Del Pozo-Valero 2020 - - Germline - - - 0 - Stéphanie Cornelis
+?/. 1 c.32T>C r.(?) p.(Leu11Pro) - likely pathogenic (recessive) g.94586570A>G g.94121014A>G c.32T>C p.Leu11Pro het - ABCA4_000154 - Prevention Genetics - - Unknown - - - 0 - Stéphanie Cornelis
+?/. 1 c.32T>C r.(?) p.(Leu11Pro) - likely pathogenic (recessive) g.94586570A>G g.94121014A>G c.32T>C, p.Leu11Pro Heterozygous - ABCA4_000154 - PubMed: Goetz 2020 - - Unknown - 1, 121404, 0, 0.000008237 - 0 - Stéphanie Cornelis
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