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.

1162 entries on 12 pages. Showing entries 1 - 100.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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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     

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VIP     

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Owner     
+?/. - c.1906C>T r.(?) p.(Ala1038Val) Unknown - likely pathogenic g.94508969G>A g.94043413G>A - - ABCA4_000021 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 659 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - pathogenic g.94508969G>A g.94043413G>A - - ABCA4_000021 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Paternal (confirmed) - pathogenic g.94508969G>A g.94043413G>A - - ABCA4_000021 - 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
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Maternal (confirmed) - pathogenic g.94508969G>A g.94043413G>A - - ABCA4_000021 - 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
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #2 - pathogenic g.94508969G>A g.94043413G>A - - ABCA4_000021 - 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
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Maternal (confirmed) - pathogenic g.94508969G>A g.94043413G>A - - ABCA4_000021 - PubMed: Braun 2013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents/sib F no United States - - - - - 1 Johan den Dunnen
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Maternal (confirmed) - pathogenic g.94508969G>A g.94043413G>A - - ABCA4_000021 - 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
+?/+? 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - likely pathogenic g.94508969G>A g.94043413G>A - - ABCA4_000021 - - - - Germline - - - - - DNA SEQ, SEQ-NG-R - - STGD - PubMed: Sciezyiska 2015 - - - Poland - - - - - 1 Monika Oldak
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - pathogenic g.94508969G>A g.94043413G>A - - ABCA4_000021 - PubMed: Eisenberger 2013 - rs61751374 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ - - retinal disease - PubMed: Eisenberger 2013 - F no Germany German - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - pathogenic g.94508969G>A g.94043413G>A - - ABCA4_000021 - PubMed: Eisenberger 2013 - rs61751374 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ - - retinal disease - PubMed: Eisenberger 2013 - F no Germany German - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - pathogenic g.94508969G>A g.94043413G>A - - ABCA4_000021 - PubMed: Glockle 2014 - - Germline - - - - - DNA SEQ-NG-S - - CORD - PubMed: Glockle 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Both (homozygous) - likely pathogenic g.94508969G>A g.94043413G>A - - ABCA4_000021 - PubMed: Glockle 2014 - - Germline - - - - - DNA SEQ-NG-S - - CORD - PubMed: Glockle 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Maternal (confirmed) - pathogenic g.94508969G>A g.94043413G>A C3083T - ABCA4_000021 - PubMed: Allikmets 1997; PubMed: Allikmets 1997 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA HD, SEQ - - STGD1 - PubMed: Anderson 1995 - ? ? United States ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Maternal (confirmed) - likely pathogenic g.94508969G>A g.94043413G>A C3083T - ABCA4_000021 - PubMed: Allikmets 1997; PubMed: Allikmets 1997 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA HD, SEQ - - STGD1 - PubMed: Anderson 1995 - ? ? United States ? - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - pathogenic g.94508969G>A g.94043413G>A - - ABCA4_000021 - PubMed: Maugeri 1999 - rs61751374 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
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - likely pathogenic g.94508969G>A g.94043413G>A 3113C>T - ABCA4_000021 - PubMed: Maugeri 1999 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Paternal (confirmed) - pathogenic g.94508969G>A g.94043413G>A [CTA > CCA; GCC > GTC] - ABCA4_000021 - PubMed: Briggs 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Paternal (inferred) - pathogenic g.94508969G>A g.94043413G>A [CTA > CCA; GCC > GTC] - ABCA4_000021 - PubMed: Briggs 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - pathogenic g.94508969G>A g.94043413G>A A1038V - ABCA4_000021 - PubMed: Lewis 1999, PubMed: Shroyer 2000 - - Germline yes ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - pathogenic g.94508969G>A g.94043413G>A A1038V - ABCA4_000021 - PubMed: Lewis 1999, PubMed: Shroyer 2000 - - Germline yes ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - likely pathogenic g.94508969G>A g.94043413G>A A1038V - ABCA4_000021 - PubMed: Lewis 1999 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 - ? ? United States white - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - likely pathogenic g.94508969G>A g.94043413G>A A1038V - ABCA4_000021 - PubMed: Lewis 1999 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected M ? United States white - - - - 1 Stéphanie Cornelis
-?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - likely benign g.94508969G>A g.94043413G>A A1038V - ABCA4_000021 - PubMed: Lewis 1999 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 4-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - likely pathogenic g.94508969G>A g.94043413G>A A1038V - ABCA4_000021 - PubMed: Lewis 1999 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected ? ? United States white - - - - 1 Stéphanie Cornelis
-?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - likely benign g.94508969G>A g.94043413G>A A1038V - ABCA4_000021 - PubMed: Lewis 1999 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 - ? ? United States white - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - likely pathogenic g.94508969G>A g.94043413G>A A1038V - ABCA4_000021 - PubMed: Lewis 1999 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - likely pathogenic g.94508969G>A g.94043413G>A A1038V - ABCA4_000021 - PubMed: Lewis 1999 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - likely pathogenic g.94508969G>A g.94043413G>A A1038V - ABCA4_000021 - PubMed: Lewis 1999 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected ? ? United States white - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A L541P, A1038V - ABCA4_000021 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
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - pathogenic g.94508969G>A g.94043413G>A C3114T - ABCA4_000021 - PubMed: Rozet 1998 - - Germline ? ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Kaplan 1993 - ? ? - - - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - VUS g.94508969G>A g.94043413G>A C3114T - ABCA4_000021 - PubMed: Rozet 1998 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Kaplan 1993 - ? ? - - - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A C3114T, T1622C - ABCA4_000021 - 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - VUS g.94508969G>A g.94043413G>A C3114T - ABCA4_000021 - PubMed: Simonelli 2000 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, HD - - ? - PubMed: Simonelli 2000 3-generation family, 2 affected F ? Italy Italian, south - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - VUS g.94508969G>A g.94043413G>A C3114T - ABCA4_000021 - PubMed: Simonelli 2000 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, HD - - ? - PubMed: Simonelli 2000 3-generation family, 2 affected F ? Italy Italian, south - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C; 3113C>T - ABCA4_000021 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Germany white - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C; 3113C>T - ABCA4_000021 - PubMed: Klevering 2004 - - Germline ? - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Germany white - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - likely pathogenic g.94508969G>A g.94043413G>A 1622T>C; 3113C>T - ABCA4_000021 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C; 3113C>T - ABCA4_000021 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Germany white - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C; 3113C>T - ABCA4_000021 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Germany white - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C; 3113C>T - ABCA4_000021 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX retinal disease - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - likely pathogenic g.94508969G>A g.94043413G>A leu541pro/ala1038val,‡ - ABCA4_000021 - 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
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - likely pathogenic g.94508969G>A g.94043413G>A Leu541Pro, Ala1038Val - ABCA4_000021 - PubMed: Fishman 1999 - - Germline - - - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - likely pathogenic g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - pathogenic g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - pathogenic g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - 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
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Both (homozygous) - likely pathogenic g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline yes - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - pathogenic g.94508969G>A g.94043413G>A A1038V - ABCA4_000021 - PubMed: Rivera 2000, PubMed: Gerth 2002 - - Germline ? ExAC 173, 121304, 0, 0.001426 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000, PubMed: Gerth 2002 - M ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - likely pathogenic g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - likely pathogenic g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - likely pathogenic g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - likely pathogenic g.94508969G>A g.94043413G>A A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline ? ExAC 173, 121304, 0, 0.001426 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
-?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - likely benign g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - pathogenic g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - 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
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - likely pathogenic g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - likely pathogenic g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - likely pathogenic g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - pathogenic g.94508969G>A g.94043413G>A A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline yes ExAC 173, 121304, 0, 0.001426 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - likely pathogenic g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - pathogenic g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - pathogenic g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A L541P-A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - VUS g.94508969G>A g.94043413G>A A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - VUS g.94508969G>A g.94043413G>A A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - VUS g.94508969G>A g.94043413G>A A1038V - ABCA4_000021 - PubMed: Rivera 2000 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Paternal (confirmed) - pathogenic g.94508969G>A g.94043413G>A 3113C→T - ABCA4_000021 - PubMed: Yatsenko 2001 - - Germline ? ExAC 173, 121304, 0, 0.001426 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A [1622T→C;3113C→T] - ABCA4_000021 - PubMed: Yatsenko 2001 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - pathogenic g.94508969G>A g.94043413G>A 3113C→T - ABCA4_000021 - PubMed: Yatsenko 2001 - - Germline ? ExAC 173, 121304, 0, 0.001426 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C, 3113C>T - ABCA4_000021 - 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C, 3113C>T - ABCA4_000021 - 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C, 3113C>T - ABCA4_000021 - 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C, 3113C>T - ABCA4_000021 - 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C, 3113C>T - ABCA4_000021 - 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C, 3113C>T - ABCA4_000021 - 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C, 3113C>T - ABCA4_000021 - 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C, 3113C>T - ABCA4_000021 - 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C, 3113C>T - ABCA4_000021 - 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C, 3113C>T - ABCA4_000021 - 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C, 3113C>T - ABCA4_000021 - 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - VUS g.94508969G>A g.94043413G>A 3113G>T - ABCA4_000021 - PubMed: Webster 2001 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - VUS g.94508969G>A g.94043413G>A 3113G>T - ABCA4_000021 - PubMed: Webster 2001 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - VUS g.94508969G>A g.94043413G>A 3113G>T - ABCA4_000021 - PubMed: Webster 2001 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - VUS g.94508969G>A g.94043413G>A 3113G>T - ABCA4_000021 - PubMed: Webster 2001 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - VUS g.94508969G>A g.94043413G>A 3113G>T - ABCA4_000021 - PubMed: Webster 2001 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - VUS g.94508969G>A g.94043413G>A 3113G>T - ABCA4_000021 - PubMed: Webster 2001 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 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
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A L541P;A1038 V - ABCA4_000021 - PubMed: Fumagalli 2001 - - Germline - - - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - VUS g.94508969G>A g.94043413G>A A1038 V - ABCA4_000021 - PubMed: Fumagalli 2001 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Paternal (confirmed) - likely pathogenic g.94508969G>A g.94043413G>A L541P; A1038 V; G1961E - ABCA4_000021 - PubMed: Fumagalli 2001 - - Germline - - - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Paternal (confirmed) - likely pathogenic g.94508969G>A g.94043413G>A R212C ; L541P; A1038 V - ABCA4_000021 - PubMed: Fumagalli 2001 - - Germline - - - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - likely pathogenic g.94508969G>A g.94043413G>A 1622T>C; 3113C>T - ABCA4_000021 - PubMed: Klevering 2002 - - Germline - - - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C; 3113C>T - ABCA4_000021 - PubMed: Klevering 2002 - - Germline - - - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - VUS g.94508969G>A g.94043413G>A 1622T>C; 3113C>T - ABCA4_000021 - PubMed: Klevering 2002 - - Germline - - - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Both (homozygous) - likely pathogenic g.94508969G>A g.94043413G>A 1622T>C; 3113C>T - ABCA4_000021 - PubMed: Klevering 2002 - - Germline - - - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - likely pathogenic g.94508969G>A g.94043413G>A 1622T>C; 3113C>T - ABCA4_000021 - PubMed: Klevering 2002 - - Germline - - - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
+/. 21 c.3113C>T r.(?) p.(Ala1038Val) Parent #1 - pathogenic g.94508969G>A g.94043413G>A 1622T>C; 3113C>T - ABCA4_000021 - PubMed: Klevering 2002 - - Germline - - - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - VUS g.94508969G>A g.94043413G>A GCC 3113 GTC - ABCA4_000021 - PubMed: Ducroq 2002 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA DHPLC, SEQ - - CORD - PubMed: Ducroq 2002 - ? ? France ? - - - - 1 Stéphanie Cornelis
-?/. 21 c.3113C>T r.(?) p.(Ala1038Val) Unknown - likely benign g.94508969G>A g.94043413G>A CTG 3602 CGG - ABCA4_000021 - PubMed: Ducroq 2002 - - Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA DHPLC, SEQ - - CORD - PubMed: Ducroq 2002 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
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