Full data view for gene MFSD8

An NCL gene variant database
Information The variants shown are described using the NM_152778.2 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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     
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Parent #1 - likely pathogenic g.128843111C>G g.127921956C>G - - MFSD8_000044 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 350 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.1006G>C r.(?) p.(Glu336Gln) Parent #1 - pathogenic g.128843111C>G g.127921956C>G - - MFSD8_000044 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - WES ? 134 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Unknown - likely pathogenic g.128843111C>G g.127921956C>G c.1006G>C; p.E336Q - MFSD8_000044 - PubMed: Kersten 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - Whole-exome sequencing retinal disease ? PubMed: Kersten 2018 - M - - - - - - - 1 LOVD
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Unknown - likely pathogenic g.128843111C>G g.127921956C>G c.1006G>C; p.E336Q - MFSD8_000044 - PubMed: Kersten 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - Whole-exome sequencing retinal disease ? PubMed: Kersten 2018 - F - - - - - - - 1 LOVD
+?/. 11 c.1006G>C r.(?) p.(Glu336Gln) Unknown - likely pathogenic g.128843111C>G - c.1006G>C - MFSD8_000044 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 11 c.1006G>C r.(?) p.(Glu336Gln) Unknown - likely pathogenic g.128843111C>G - c.1006G>C - MFSD8_000044 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Paternal (confirmed) - likely pathogenic g.128843111C>G g.127921956C>G MFSD8 M1 (c.1006G>C; p.Glu336Gln) - MFSD8_000044 heterozygous PubMed: Roosing 2015 - - Germline yes 9/4190 alleles, in-house exome database; 1 of 302 (0.3%) alleles of healthy ethnically matched control individuals - - - DNA arraySNP, STR, SEQ-NG-S, SEQ blood exome sequencing retinal disease A_II:1 PubMed: Roosing 2015 Family A, patient II:1 F - - Iranian - - - - 1 LOVD
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Paternal (confirmed) - likely pathogenic g.128843111C>G g.127921956C>G MFSD8 M1 (c.1006G>C; p.Glu336Gln) - MFSD8_000044 heterozygous PubMed: Roosing 2015 - - Germline yes 9/4190 alleles, in-house exome database; 1 of 302 (0.3%) alleles of healthy ethnically matched control individuals - - - DNA SEQ blood - retinal disease A_II:2 PubMed: Roosing 2015 Family A, patient II:2 F - - Iranian - - - - 1 LOVD
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Paternal (confirmed) - likely pathogenic g.128843111C>G g.127921956C>G MFSD8 M1 (c.1006G>C; p.Glu336Gln) - MFSD8_000044 heterozygous PubMed: Roosing 2015 - - Germline yes 9/4190 alleles, in-house exome database; 1 of 302 (0.3%) alleles of healthy ethnically matched control individuals - - - DNA SEQ blood - retinal disease A_II:3 PubMed: Roosing 2015 Family A, patient II:3 M - - Iranian - - - - 1 LOVD
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Paternal (confirmed) - likely pathogenic g.128843111C>G g.127921956C>G MFSD8 M1 (c.1006G>C; p.Glu336Gln) - MFSD8_000044 heterozygous PubMed: Roosing 2015 - - Germline yes 9/4190 alleles, in-house exome database; 1 of 302 (0.3%) alleles of healthy ethnically matched control individuals - - - DNA SEQ blood - retinal disease A_II:4 PubMed: Roosing 2015 Family A, patient II:4 M - - Iranian - - - - 1 LOVD
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Paternal (confirmed) - likely pathogenic g.128843111C>G g.127921956C>G MFSD8 M1 (c.1006G>C; p.Glu336Gln) - MFSD8_000044 heterozygous PubMed: Roosing 2015 - - Germline yes 9/4190 alleles, in-house exome database; 1 of 302 (0.3%) alleles of healthy ethnically matched control individuals - - - DNA SEQ blood - retinal disease A_II:5 PubMed: Roosing 2015 Family A, patient II:5 F - - Iranian - - - - 1 LOVD
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Parent #1 - likely pathogenic g.128843111C>G g.127921956C>G MFSD8 M1 (c.1006G>C; p.Glu336Gln) - MFSD8_000044 heterozygous PubMed: Roosing 2015 - - Germline yes 9/4190 alleles, in-house exome database; 1 of 302 (0.3%) alleles of healthy ethnically matched control individuals - - - DNA SEQ-NG-S, SEQ blood exome sequencing retinal disease B_II:1 PubMed: Roosing 2015 Family B, patient II:1 M - - Iranian - - - - 1 LOVD
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Unknown - likely pathogenic g.128843111C>G g.127921956C>G MFSD8 c.1006G>C, p.Glu336Gln - MFSD8_000044 heterozygous PubMed: Khan 2017 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood whole exome or genome next generation sequencing retinal disease GC19741 PubMed: Khan 2017 - F - - English - - - - 1 LOVD
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Parent #1 - likely pathogenic g.128843111C>G g.127921956C>G MFSD8 c.1006G>C, p.Glu336Gln - MFSD8_000044 heterozygous PubMed: Khan 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome or genome next generation sequencing retinal disease LE1 PubMed: Khan 2017 - F - - English - - - - 1 LOVD
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Parent #1 - likely pathogenic g.128843111C>G g.127921956C>G MFSD8 c.1006G>C, p.Glu336Gln - MFSD8_000044 heterozygous PubMed: Khan 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome or genome next generation sequencing retinal disease LE2 PubMed: Khan 2017 - M - - English - - - - 1 LOVD
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Parent #1 - likely pathogenic g.128843111C>G g.127921956C>G MFSD8 c.1006G>C, p.Glu336Gln - MFSD8_000044 heterozygous PubMed: Khan 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome or genome next generation sequencing retinal disease LE3 PubMed: Khan 2017 - M - - English - - - - 1 LOVD
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Parent #1 - likely pathogenic g.128843111C>G g.127921956C>G MFSD8 c.1006G>C, p.Glu336Gln - MFSD8_000044 heterozygous PubMed: Khan 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome or genome next generation sequencing retinal disease CEI1 PubMed: Khan 2017 - M - - European/Native American - - - - 1 LOVD
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Paternal (confirmed) - likely pathogenic g.128843111C>G g.127921956C>G MFSD8 c.1006G>C, p.Glu336Gln - MFSD8_000044 heterozygous PubMed: Khan 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome or genome next generation sequencing retinal disease CEI2 PubMed: Khan 2017 - M - - European/Native American - - - - 1 LOVD
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Paternal (confirmed) - likely pathogenic g.128843111C>G g.127921956C>G MFSD8 c.1006G>C, p.Glu336Gln - MFSD8_000044 heterozygous PubMed: Khan 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome or genome next generation sequencing retinal disease CEI_III:7 PubMed: Khan 2017 - M - - European/Native American - - - - 1 LOVD
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Paternal (confirmed) - likely pathogenic g.128843111C>G g.127921956C>G MFSD8 c.1006G>C, p.Glu336Gln - MFSD8_000044 heterozygous PubMed: Khan 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome or genome next generation sequencing retinal disease CEI_II:3 PubMed: Khan 2017 - M - - European/Native American - - - - 1 LOVD
?/. 10 c.1006G>C r.(?) p.(Glu336Gln) Parent #1 ACMG VUS g.128843111C>G g.127921956C>G - - MFSD8_000044 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 071563 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
?/. 10 c.1006G>C r.(?) p.(Glu336Gln) Parent #1 ACMG VUS g.128843111C>G g.127921956C>G - - MFSD8_000044 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072011 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Rebekkah Hitti-Malin
?/. 10 c.1006G>C r.(?) p.(Glu336Gln) Parent #2 ACMG VUS g.128843111C>G g.127921956C>G - - MFSD8_000044 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 071785 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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