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.

1028 entries on 11 pages. Showing entries 1 - 100.
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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

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+/. 12 c.1622delinsCC r.(?) p.(Leu541ProfsTer15) Unknown ACMG pathogenic g.94528806delinsGG g.94063250delinsGG - - ABCA4_000020 ACMG PVS1, PM2_sup, PP3_m; severity category not assesed Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1622T>C r.(?) p.(Leu541Pro) Unknown - pathogenic g.94528806A>G g.94063250A>G - - ABCA4_000020 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Paternal (confirmed) - VUS g.94528806A>G g.94063250A>G - - ABCA4_000020 - PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents F no United States - - - - - 1 Johan den Dunnen
?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Maternal (confirmed) - VUS g.94528806A>G g.94063250A>G - - ABCA4_000020 - PubMed: Braun 2013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - STGD - PubMed: Braun 2013 3-generation family, 1 affected, unaffected carrier parents/children F no United States - - - - - 1 Johan den Dunnen
?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #2 - VUS g.94528806A>G g.94063250A>G - - ABCA4_000020 - PubMed: Braun 2013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier sibs M no United States - - - - - 1 Johan den Dunnen
?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Maternal (confirmed) - VUS g.94528806A>G g.94063250A>G - - ABCA4_000020 - PubMed: Braun 2013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - STGD - PubMed: Braun 2013 2-generation family, 3 affecteds, unaffected carrier parents/sib - no United States - - - - - 3 Johan den Dunnen
+/+? 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - pathogenic g.94528806A>G g.94063250A>G - - ABCA4_000020 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-R - - STGD - PubMed: Sciezyiska 2015 - - - Poland - - - - - 1 Monika Oldak
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G - - ABCA4_000020 - PubMed: Eisenberger 2013 - rs61751392 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ - - retinal disease - PubMed: Eisenberger 2013 - F no Germany German - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G - - ABCA4_000020 - PubMed: Eisenberger 2013 - rs61751392 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ - - retinal disease - PubMed: Eisenberger 2013 - F no Germany German - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G - - ABCA4_000020 - PubMed: Glockle 2014 - - Germline - - - - - DNA SEQ-NG-S - - CORD - PubMed: Glockle 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Both (homozygous) - likely pathogenic g.94528806A>G g.94063250A>G - - ABCA4_000020 - PubMed: Glockle 2014 - - Germline - - - - - DNA SEQ-NG-S - - CORD - PubMed: Glockle 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Unknown - likely pathogenic g.94528806A>G g.94063250A>G 21 c.3113C>T p.Ala1038Val homozygous - ABCA4_000020 - PubMed: Alapati 2014 - - Germline - ExAC 15, 121412, 0, 0.0001235 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Both (homozygous) - likely pathogenic g.94528806A>G g.94063250A>G 21 c.3113C>T p.Ala1038Val homozygous - ABCA4_000020 - PubMed: Alapati 2014 - - Germline - ExAC 15, 121412, 0, 0.0001235 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G - - ABCA4_000020 - PubMed: Maugeri 1999 - rs61751392 Germline - - - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Unknown - likely pathogenic g.94528806A>G g.94063250A>G CTA > CCA - ABCA4_000020 - PubMed: Briggs 2001 - - Germline - ExAC 15, 121412, 0, 0.0001235 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Maternal (confirmed) - likely pathogenic g.94528806A>G g.94063250A>G CTA > CCA - ABCA4_000020 - PubMed: Briggs 2001 - - Germline - ExAC 15, 121412, 0, 0.0001235 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Unknown - likely pathogenic g.94528806A>G g.94063250A>G CTA > CCA - ABCA4_000020 - PubMed: Briggs 2001 - - Germline - ExAC 15, 121412, 0, 0.0001235 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Unknown - likely pathogenic g.94528806A>G g.94063250A>G CTA > CCA - ABCA4_000020 - PubMed: Briggs 2001 - - Germline - ExAC 15, 121412, 0, 0.0001235 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Paternal (confirmed) - likely pathogenic g.94528806A>G g.94063250A>G [CTA > CCA; GCC > GTC] - ABCA4_000020 - PubMed: Briggs 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Paternal (inferred) - likely pathogenic g.94528806A>G g.94063250A>G [CTA > CCA; GCC > GTC] - ABCA4_000020 - PubMed: Briggs 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P, A1038V - ABCA4_000020 On the other chromosome a mutation was found as well, but not specified. PubMed: Lewis 1999 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 - ? ? United States white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G C3114T, T1622C - ABCA4_000020 - PubMed: Rozet 1998 - - Germline - - - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Gerber 1995 Segregation analysis wasn't done. However, as these mutations are often found together, it is likely that they are lying on the same allele here. ? ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C; 3113C>T - ABCA4_000020 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Germany white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C; 3113C>T - ABCA4_000020 - PubMed: Klevering 2004 - - Germline ? - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Germany white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C; 3113C>T - ABCA4_000020 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C; 3113C>T - ABCA4_000020 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Germany white - - - - 1 Stéphanie Cornelis
?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - VUS g.94528806A>G g.94063250A>G 1622T>C; 3113C>T - ABCA4_000020 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Germany white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C; 3113C>T - ABCA4_000020 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX retinal disease - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G leu541pro/ala1038val,‡ - ABCA4_000020 - PubMed: Fishman 1999, PubMed: Kang Derwent 2004, PubMed: Genead 2009 - - Germline ? - - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Fishman 1999, PubMed: Kang Derwent 2004 - M ? - white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G Leu541Pro, Ala1038Val - ABCA4_000020 - PubMed: Fishman 1999 - - Germline - - - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000, PubMed: Gerth 2002 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000, PubMed: Gerth 2002 - M ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Both (homozygous) - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline yes - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
-?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely benign g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000, PubMed: Gerth 2002 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000, PubMed: Gerth 2002 - F ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G [1622T→C;3113C→T] - ABCA4_000020 - PubMed: Yatsenko 2001 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C, 3113C>T - ABCA4_000020 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C, 3113C>T - ABCA4_000020 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C, 3113C>T - ABCA4_000020 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C, 3113C>T - ABCA4_000020 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C, 3113C>T - ABCA4_000020 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C, 3113C>T - ABCA4_000020 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C, 3113C>T - ABCA4_000020 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C, 3113C>T - ABCA4_000020 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C, 3113C>T - ABCA4_000020 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C, 3113C>T - ABCA4_000020 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C, 3113C>T - ABCA4_000020 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P;A1038 V - ABCA4_000020 - PubMed: Fumagalli 2001 - - Germline - - - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Paternal (confirmed) - likely pathogenic g.94528806A>G g.94063250A>G L541P; A1038 V; G1961E - ABCA4_000020 - PubMed: Fumagalli 2001 - - Germline - - - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Paternal (confirmed) - likely pathogenic g.94528806A>G g.94063250A>G R212C ; L541P; A1038 V - ABCA4_000020 - PubMed: Fumagalli 2001 - - Germline - - - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C; 3113C>T - ABCA4_000020 - PubMed: Klevering 2002 - - Germline - - - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C; 3113C>T - ABCA4_000020 - PubMed: Klevering 2002 - - Germline - - - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C; 3113C>T - ABCA4_000020 - PubMed: Klevering 2002 - - Germline - - - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Both (homozygous) - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C; 3113C>T - ABCA4_000020 - PubMed: Klevering 2002 - - Germline - - - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C; 3113C>T - ABCA4_000020 - PubMed: Klevering 2002 - - Germline - - - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G 1622T>C; 3113C>T - ABCA4_000020 - PubMed: Klevering 2002 - - Germline - - - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G Ala1038Val; Leuk541Pro - ABCA4_000020 - PubMed: Fishman 2003 - - Germline - - - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Fishman 2003 - F ? - white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Unknown - likely pathogenic g.94528806A>G g.94063250A>G Leu541Pro - ABCA4_000020 - PubMed: Fishman 2003 - - Germline - ExAC 15, 121412, 0, 0.0001235 - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Fishman 2003 - F ? - white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Unknown - likely pathogenic g.94528806A>G g.94063250A>G L541P - ABCA4_000020 - PubMed: Jaakson 2003 - - Germline - ExAC 15, 121412, 0, 0.0001235 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Unknown - likely pathogenic g.94528806A>G g.94063250A>G L541P - ABCA4_000020 - PubMed: Jaakson 2003 - - Germline - ExAC 15, 121412, 0, 0.0001235 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Unknown - likely pathogenic g.94528806A>G g.94063250A>G L541P - ABCA4_000020 - PubMed: Jaakson 2003 - - Germline - ExAC 15, 121412, 0, 0.0001235 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Unknown - likely pathogenic g.94528806A>G g.94063250A>G L541P - ABCA4_000020 - PubMed: Jaakson 2003 - - Germline - ExAC 15, 121412, 0, 0.0001235 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Unknown - likely pathogenic g.94528806A>G g.94063250A>G L541P - ABCA4_000020 - PubMed: Jaakson 2003 - - Germline - ExAC 15, 121412, 0, 0.0001235 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Unknown - likely pathogenic g.94528806A>G g.94063250A>G L541P - ABCA4_000020 - PubMed: Jaakson 2003 - - Germline - ExAC 15, 121412, 0, 0.0001235 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Unknown - likely pathogenic g.94528806A>G g.94063250A>G L541P - ABCA4_000020 - PubMed: Jaakson 2003 - - Germline - ExAC 15, 121412, 0, 0.0001235 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Unknown - likely pathogenic g.94528806A>G g.94063250A>G L541P - ABCA4_000020 - PubMed: Jaakson 2003 - - Germline - ExAC 15, 121412, 0, 0.0001235 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G [c.1622T>C;c.3113C>T] - ABCA4_000020 - PubMed: Kitiratschky 2008 - - Germline - - - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - F ? - (German):(United States) - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P/A1038 - ABCA4_000020 - PubMed: Rosenberg 2007 - - Germline ? - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P/A1038V - ABCA4_000020 - PubMed: Rosenberg 2007 - - Germline ? - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P/A1038 - ABCA4_000020 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P/A1038 - ABCA4_000020 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P/A1038 - ABCA4_000020 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P/A1038 - ABCA4_000020 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P/A1038 - ABCA4_000020 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P/A1038 - ABCA4_000020 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P/A1038 - ABCA4_000020 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P/A1038 - ABCA4_000020 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P/A1038 - ABCA4_000020 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P/A1038 - ABCA4_000020 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P/A1038 - ABCA4_000020 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P/A1038 - ABCA4_000020 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P/A1038V - ABCA4_000020 - PubMed: Passerini 2010 - - Germline - - - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Parent #1 - likely pathogenic g.94528806A>G g.94063250A>G L541P-A1038V - ABCA4_000020 - PubMed: Passerini 2010 - - Germline - - - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Unknown - likely pathogenic g.94528806A>G g.94063250A>G c.1622T>C - ABCA4_000020 - PubMed: Stenirri 2008 - - Germline - 15, 121412, 0, 0.0001235 - - - 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
+?/. 12 c.1622T>C r.(?) p.(Leu541Pro) Unknown - likely pathogenic g.94528806A>G g.94063250A>G c.1622T>C - ABCA4_000020 - PubMed: Stenirri 2008 - - Germline - 15, 121412, 0, 0.0001235 - - - 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
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