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.

1154 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     
?/. 38i c.5461-10T>C r.(?) p.(=) Unknown - VUS g.94476951A>G g.94011395A>G - - ABCA4_000025 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 38i c.5461-10T>C r.(=) p.(=) Unknown - VUS g.94476951A>G g.94011395A>G - - ABCA4_000025 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 38i c.5461-10T>C r.(?) p.(=) Unknown - VUS g.94476951A>G g.94011395A>G - - ABCA4_000025 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+/. 38i c.5461-10T>C r.spl p.? Maternal (confirmed) - pathogenic g.94476951A>G g.94011395A>G - - ABCA4_000025 - PubMed: Braun 2013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents F no United States - - - - - 1 Johan den Dunnen
+/. 38i c.5461-10T>C r.spl p.? Parent #2 - pathogenic g.94476951A>G g.94011395A>G - - ABCA4_000025 - PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 3-generation family, 2 affecteds, unaffected carrier children M no United States - - - - - 2 Johan den Dunnen
+/. 38i c.5461-10T>C r.spl p.? Paternal (confirmed) - pathogenic g.94476951A>G g.94011395A>G - - ABCA4_000025 - PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents M no United States - - - - - 1 Johan den Dunnen
+?/. 38i c.5461-10T>C r.spl? p.(?) Unknown - likely pathogenic g.94476951A>G g.94011395A>G - - ABCA4_000025 - PubMed: Bax 2014 - - Unknown - - - - - DNA SEQ - - CORD - PubMed: Bax 2015 2-generation family, 1 affected, unaffected parents M - Netherlands - - - - - 1 Nathalie Bax
+?/. 38i c.5461-10T>C r.spl? p.(?) Maternal (confirmed) - likely pathogenic g.94476951A>G g.94011395A>G - - ABCA4_000025 - PubMed: Bax 2014 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Bax 2015 patient AIV1 M no Netherlands - - - - - 1 Nathalie Bax
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G - - ABCA4_000025 - PubMed: Alapati 2014 - - Germline - ExAC 27, 121030, 0, 0.0002231 - - - DNA PE, PCR, SEQ - APEX ? - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 38i c.5461-10T>C r.spl p.(?) Unknown - likely pathogenic g.94476951A>G g.94011395A>G - - ABCA4_000025 - PubMed: Alapati 2014 - - Germline - ExAC 27, 121030, 0, 0.0002231 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 38i c.5461-10T>C r.spl p.(?) Unknown - likely pathogenic g.94476951A>G g.94011395A>G - - ABCA4_000025 - PubMed: Alapati 2014 - - Germline - ExAC 27, 121030, 0, 0.0002231 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Both (homozygous) - VUS g.94476951A>G g.94011395A>G IVS38-10T>C - ABCA4_000025 - PubMed: Klevering 2004 - - Germline ? ExAC 27, 121030, 0, 0.0002231 - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - M ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
+?/. 38i c.5461-10T>C r.spl p.(?) Unknown - likely pathogenic g.94476951A>G g.94011395A>G IVS38-10T>C - ABCA4_000025 - PubMed: Klevering 2004 - - Germline - ExAC 27, 121030, 0, 0.0002231 - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Germany white - - - - 1 Stéphanie Cornelis
+?/. 38i c.5461-10T>C r.spl p.(?) Unknown - likely pathogenic g.94476951A>G g.94011395A>G IVS38-10T>C - ABCA4_000025 - PubMed: Klevering 2004 - - Germline ? ExAC 27, 121030, 0, 0.0002231 - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Germany white - - - - 1 Stéphanie Cornelis
+/. 38i c.5461-10T>C r.spl p.(?) Unknown - pathogenic g.94476951A>G g.94011395A>G IVS38-10T>C - ABCA4_000025 - PubMed: Klevering 2004 - - Germline yes ExAC 27, 121030, 0, 0.0002231 - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
-?/. 38i c.5461-10T>C r.(?) p.(?) Paternal (confirmed) - likely benign g.94476951A>G g.94011395A>G IVS38-10T>C - ABCA4_000025 - PubMed: Klevering 2004 - - Germline - ExAC 27, 121030, 0, 0.0002231 - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2004 4-generation family, 1 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 38i c.5461-10T>C r.spl p.(?) Unknown - likely pathogenic g.94476951A>G g.94011395A>G c.5461_10T>C - ABCA4_000025 - PubMed: Kitiratschky 2008 - - Germline - ExAC 27, 121030, 0, 0.0002231 - - - DNA PCR, PE, SEQ - APEX COD - PubMed: Kitiratschky 2008 - F ? - (German):(United States) - - - - 1 Stéphanie Cornelis
+/. 38i c.5461-10T>C r.spl p.(?) Unknown - pathogenic g.94476951A>G g.94011395A>G c.5461_10T>C - ABCA4_000025 - PubMed: Kitiratschky 2008 - - Germline - ExAC 27, 121030, 0, 0.0002231 - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - F ? - (German):(United States) - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461_10T>C - ABCA4_000025 found no variant 2nd chromosome PubMed: Kitiratschky 2008 - - Germline - ExAC 27, 121030, 0, 0.0002231 - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - M ? - (German):(United States) - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461_10T>C - ABCA4_000025 found no variant 2nd chromosome PubMed: Kitiratschky 2008 - - Germline - ExAC 27, 121030, 0, 0.0002231 - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - M ? - (German):(United States) - - - - 1 Stéphanie Cornelis
+/. 38i c.5461-10T>C r.spl p.(?) Unknown - pathogenic g.94476951A>G g.94011395A>G c.5461_10T>C - ABCA4_000025 - PubMed: Kitiratschky 2008 - - Germline - ExAC 27, 121030, 0, 0.0002231 - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - M ? - (German):(United States) - - - - 1 Stéphanie Cornelis
+/. 38i c.5461-10T>C r.spl p.(?) Unknown - pathogenic g.94476951A>G g.94011395A>G c.5461_10T>C - ABCA4_000025 - PubMed: Kitiratschky 2008 - - Germline - ExAC 27, 121030, 0, 0.0002231 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Kitiratschky 2008 - F ? - (German):(United States) - - - - 1 Stéphanie Cornelis
+/. 38i c.5461-10T>C r.spl p.(?) Unknown - pathogenic g.94476951A>G g.94011395A>G c.5461_10T>C - ABCA4_000025 - PubMed: Kitiratschky 2008 - - Germline - ExAC 27, 121030, 0, 0.0002231 - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - F ? - (German):(United States) - - - - 1 Stéphanie Cornelis
+?/. 38i c.5461-10T>C r.spl p.(?) Unknown - likely pathogenic g.94476951A>G g.94011395A>G c.5461_10T>C - ABCA4_000025 - PubMed: Kitiratschky 2008 - - Germline - ExAC 27, 121030, 0, 0.0002231 - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - M ? - (German):(United States) - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Rosenberg 2007 - - Germline - 27, 121030, 0, 0.0002231 - - - 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
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Rosenberg 2007 - - Germline - 27, 121030, 0, 0.0002231 - - - 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
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Rosenberg 2007 - - Germline - 27, 121030, 0, 0.0002231 - - - 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
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Rosenberg 2007 - - Germline - 27, 121030, 0, 0.0002231 - - - 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
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Rosenberg 2007 - - Germline - 27, 121030, 0, 0.0002231 - - - 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
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Rosenberg 2007 - - Germline - 27, 121030, 0, 0.0002231 - - - 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
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Rosenberg 2007 - - Germline - 27, 121030, 0, 0.0002231 - - - 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
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Rosenberg 2007 - - Germline - 27, 121030, 0, 0.0002231 - - - 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
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Rosenberg 2007 - - Germline - 27, 121030, 0, 0.0002231 - - - 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
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Rosenberg 2007 - - Germline - 27, 121030, 0, 0.0002231 - - - 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
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Rosenberg 2007 - - Germline - 27, 121030, 0, 0.0002231 - - - 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
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Rosenberg 2007 - - Germline - 27, 121030, 0, 0.0002231 - - - 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
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Rosenberg 2007 - - Germline - 27, 121030, 0, 0.0002231 - - - 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
+?/. 38i c.5461-10T>C r.spl p.(?) Unknown - likely pathogenic g.94476951A>G g.94011395A>G IVS38-10T_C - ABCA4_000025 - PubMed: Genead 2009 - - Germline ? 27, 121030, 0, 0.0002231 - - - DNA PCR, PE, SSCA, SEQ - APEX STGD1 - PubMed: Genead 2009 - F ? - white - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C - ABCA4_000025 - PubMed: Ernest 2009 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C - ABCA4_000025 - PubMed: Ernest 2009 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C - ABCA4_000025 - PubMed: Ernest 2009 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C - ABCA4_000025 - PubMed: Ernest 2009 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C - ABCA4_000025 - PubMed: Ernest 2009 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C - ABCA4_000025 - PubMed: Ernest 2009 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C - ABCA4_000025 - PubMed: Ernest 2009 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C - ABCA4_000025 - PubMed: Ernest 2009 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C - ABCA4_000025 - PubMed: Ernest 2009 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 38i c.5461-10T>C r.spl p.(?) Unknown - pathogenic g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 - PubMed: Schindler 2010 - - Germline ? 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 38i c.5461-10T>C r.spl p.(?) Unknown - pathogenic g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 - PubMed: Schindler 2010 - - Germline ? 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 38i c.5461-10T>C r.spl p.(?) Unknown - pathogenic g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 - PubMed: Schindler 2010 - - Germline ? 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 - PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - CORD - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 38i c.5461-10T>C r.spl p.(?) Unknown - likely pathogenic g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 - PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 38i c.5461-10T>C r.spl p.(?) Unknown - likely pathogenic g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 - PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 38i c.5461-10T>C r.spl p.(?) Unknown - pathogenic g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 - PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Both (homozygous) - VUS g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 - PubMed: Schindler 2010 - - Germline ? 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 38i c.5461-10T>C r.spl p.(?) Unknown - likely pathogenic g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 - PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 38i c.5461-10T>C r.spl p.(?) Unknown - pathogenic g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 - PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 38i c.5461-10T>C r.spl p.(?) Unknown - likely pathogenic g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 - PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 38i c.5461-10T>C r.spl p.(?) Unknown - likely pathogenic g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 - PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 38i c.5461-10T>C r.spl p.(?) Unknown - likely pathogenic g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 - PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
-?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - likely benign g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 - PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
-?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - likely benign g.94476951A>G g.94011395A>G IVS38-10 T>C - ABCA4_000025 - PubMed: Schindler 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 38i c.5461-10T>C r.spl p.(?) Unknown - pathogenic g.94476951A>G g.94011395A>G IVS38-10T>C - ABCA4_000025 - PubMed: Burke 2010 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 38i c.5461-10T>C r.spl p.(?) Unknown - likely pathogenic g.94476951A>G g.94011395A>G 5461-10T>C - ABCA4_000025 - PubMed: Chen 2011 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Chen 2011 - M ? - ? - - - - 1 Stéphanie Cornelis
+/. 38i c.5461-10T>C r.spl p.(?) Unknown - pathogenic g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Zernant 2011 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Zernant 2011 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Zernant 2011 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Zernant 2011 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Zernant 2011 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 38i c.5461-10T>C r.spl p.(?) Unknown - likely pathogenic g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Duno 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX ? - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
-?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - likely benign g.94476951A>G g.94011395A>G c.5461-10T>C - ABCA4_000025 - PubMed: Duno 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX ? - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 38i c.5461-10T>C r.(?) p.(?) Unknown - VUS g.94476951A>G g.94011395A>G c.5461–10T>C, - - ABCA4_000025 - PubMed: Roberts 2012 - - Germline - 27, 121030, 0, 0.0002231 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
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