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.

2870 entries on 29 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T - - ABCA4_000046 - - - - Germline - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Christopher Watson
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T - - ABCA4_000046 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T - - ABCA4_000046 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Paternal (confirmed) - pathogenic g.94473807C>T g.94008251C>T - - ABCA4_000046 - PubMed: Bax 2014 - - Germline yes - - - - DNA SEQ - - COD - PubMed: Bax 2015 2-generation family, 1 affected, unaffected heterozygous parents F - Netherlands - - - - - 1 Nathalie Bax
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T - - ABCA4_000046 - PubMed: Alapati 2014 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Both (homozygous) - likely pathogenic g.94473807C>T g.94008251C>T - - ABCA4_000046 - PubMed: Alapati 2014 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T - - ABCA4_000046 - PubMed: Alapati 2014 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T - - ABCA4_000046 - PubMed: Alapati 2014 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Maugeri 1999 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Paternal (confirmed) - pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Paternal (confirmed) - pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 Sibling of 034-039; 2-generation family, 2 affected M ? - ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Maternal (confirmed) - pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 2 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 Sibling of 032-011; 2-generation family, 2 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Paternal (inferred) - likely pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Maternal (confirmed) - likely pathogenic g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected M ? - ? - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T GGA > GAA - ABCA4_000046 - PubMed: Briggs 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
-?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely benign g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Lewis 1999 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected ? ? United States white - - - - 1 Stéphanie Cornelis
-?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely benign g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Lewis 1999 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Lewis 1999 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Lewis 1999 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Lewis 1999 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected M ? United States white - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T c.5882G>A - ABCA4_000046 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - ? - France ? - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T c.5882G>A - ABCA4_000046 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - ? - France ? - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T c.2690C>T - ABCA4_000046 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - ? - France ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Paternal (confirmed) - pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Simonelli 2000 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, HD - - STGD1 - Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332 3-generation family, 2 affected F ? Italy Italian, south - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Paternal (confirmed) - pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Simonelli 2000 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, HD - - STGD1 - Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332 3-generation family, 2 affected M ? Italy Italian, south - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Maternal (confirmed) - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Simonelli 2000 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, HD - - STGD1 - Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332 3-generation family, 2 affected F ? Italy Italian, south - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Maternal (confirmed) - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Simonelli 2000 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, HD - - STGD1 - Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332 3-generation family, 2 affected M ? Italy Italian, south - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Paternal (inferred) - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Simonelli 2000 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, HD - - ? - PubMed: Simonelli 2000 3-generation family, 1 affected M ? Italy Italian, south - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Klevering 2004 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Parent #1 - VUS g.94473807C>T g.94008251C>T [T1253L (25); G1961E (42)] - ABCA4_000046 - PubMed: Paloma 2001 - - Germline - - - - - DNA PCR, SSCA, SEQ - - ? - PubMed: Rozet 1998 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T Gly1961Glu - ABCA4_000046 - PubMed: Fishman 1999 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T Gly1961Glu - ABCA4_000046 - PubMed: Fishman 1999, PubMed: Genead 2009 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999, PubMed: Genead 2009 - M ? - white - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T Gly1961Glu - ABCA4_000046 - PubMed: Fishman 1999, PubMed: Genead 2009 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999, PubMed: Genead 2009 - F ? - white - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T Gly1961Glu - ABCA4_000046 - PubMed: Fishman 1999, PubMed: Kang Derwent 2004, PubMed: Genead 2009 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Fishman 1999, PubMed: Kang Derwent 2004, PubMed: Genead 2009 - M ? - white - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T Gly1961Glu - ABCA4_000046 - PubMed: Fishman 1999, PubMed: Genead 2009 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999, PubMed: Genead 2009 - F ? - white - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T Gly1961Glu - ABCA4_000046 - PubMed: Fishman 1999, PubMed: Genead 2009 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999, PubMed: Genead 2009 - M ? - white - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T Gly1961Glu - ABCA4_000046 - PubMed: Fishman 1999, PubMed: Genead 2009 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999, PubMed: Genead 2009 - F ? - white - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T Gly1961Glu - ABCA4_000046 - PubMed: Fishman 1999, PubMed: Genead 2009 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999, PubMed: Genead 2009 - F ? - white - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T Gly1961Glu - ABCA4_000046 - PubMed: Fishman 1999, PubMed: Kang Derwent 2004, PubMed: Genead 2009 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Fishman 1999, PubMed: Kang Derwent 2004 - M ? - white - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 1bp del (g) codon 448 - ABCA4_000046 - PubMed: Fishman 1999 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999 - M ? - ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - pathogenic g.94473807C>T g.94008251C>T Gly1961Glu - ABCA4_000046 - PubMed: Fishman 1999, PubMed: Genead 2009 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Fishman 1999, PubMed: Genead 2009 - F ? - white - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Both (homozygous) - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000, PubMed: Gerth 2002 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000, PubMed: Gerth 2002 2-generation family, 2 affected F yes Germany ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000, PubMed: Gerth 2002 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000, PubMed: Gerth 2002 - F ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline ? ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
-?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely benign g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - likely pathogenic g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline yes ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T G1961E - ABCA4_000046 - PubMed: Rivera 2000 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
?/. 42 c.5882G>A r.(?) p.(Gly1961Glu) Unknown - VUS g.94473807C>T g.94008251C>T 5882G>A - ABCA4_000046 - PubMed: Webster 2001 - - Germline - ExAC 613, 121302, 4, 0.005054 - - - 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
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »


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