Full data view for gene NMNAT1

Information The variants shown are described using the NM_022787.3 transcript reference sequence.

108 entries on 2 pages. Showing entries 1 - 100.
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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     
+?/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #1 - likely pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Neveling 2013 - - Unknown - - - - - DNA SEQ - - LCA9 - PubMed: Neveling 2013 Previous tests done: LCA-A, LCA5 - - - - - - - - 1 Marcel Nelen
+?/. 5 c.769G>A r.(?) p.(Glu257Lys) Paternal (confirmed) - likely pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Coppieters 2015 - rs150726175 Germline yes - - - - DNA SEQ - - LCA9 - - - M no Belgium - - - - - 1 Frauke Coppieters
+?/. 5 c.769G>A r.(?) p.(Glu257Lys) Maternal (confirmed) - likely pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Coppieters 2015 - rs150726175 Germline yes - - - - DNA SEQ - - LCA9 - - - M no Belgium - - - - - 1 Frauke Coppieters
+?/. 5 c.769G>A r.(?) p.(Glu257Lys) Unknown - likely pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Coppieters 2015 - rs150726175 Unknown ? - - - - DNA SEQ - - LCA9 - - - F no - - - - - - 1 Frauke Coppieters
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #1 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012, OMIM:var0002 - rs150726175 Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - LCA9 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012 3-generation family, 2 affected sisters, unaffected heterozygous carrier parents/children F no Canada French >56y - - - 2 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Maternal (confirmed) - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012, OMIM:var0002 - rs150726175 Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - LCA9 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/brother/sister M no Canada French >13y - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Maternal (confirmed) - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012, OMIM:var0002 - rs150726175 Germline yes - - - - DNA SEQ, SEQ-NG - - LCA9 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - European - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Both (homozygous) - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012, OMIM:var0002 - rs150726175 Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Saudi Arabia - >10y - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012, OMIM:var0002 - rs150726175 Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012 - - - Russian Federation - >41y - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Paternal (confirmed) - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Falk 2012, Journal: Falk 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Falk 2012, Journal: Falk 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States African-American - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Falk 2012, Journal: Falk 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Falk 2012, Journal: Falk 2012 - - - United States European - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Falk 2012, Journal: Falk 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Falk 2012, Journal: Falk 2012 - - - United States Caribbean, Irish - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Falk 2012, Journal: Falk 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Falk 2012, Journal: Falk 2012 - - - United States Polish - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Falk 2012, Journal: Falk 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Falk 2012, Journal: Falk 2012 - - - United States British - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Falk 2012, Journal: Falk 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Falk 2012, Journal: Falk 2012 - - - United States British - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Maternal (confirmed) - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Chiang 2012, Journal: Chiang 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - United States Chinese, Hispanic;Cherokee, Hispanic - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Maternal (confirmed) - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Chiang 2012, Journal: Chiang 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - Brazil European - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Maternal (confirmed) - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Chiang 2012, Journal: Chiang 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - Brazil Brazilian - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Maternal (confirmed) - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Chiang 2012, Journal: Chiang 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - Canada European, west - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Maternal (confirmed) - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Chiang 2012, Journal: Chiang 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - Brazil African-Protugese;Hispanic - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #1 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Chiang 2012, Journal: Chiang 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - Canada Greek - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Maternal (confirmed) - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Chiang 2012, Journal: Chiang 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - United States European - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Maternal (confirmed) - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Chiang 2012, Journal: Chiang 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - United States European - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Paternal (confirmed) - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Chiang 2012, Journal: Chiang 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - Canada British;Dutch - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Paternal (confirmed) - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Chiang 2012, Journal: Chiang 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - Canada British;Dutch - - - - 1 Johan den Dunnen
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Paternal (confirmed) - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Chiang 2012, Journal: Chiang 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - Australia Australian, English - - - - 1 Johan den Dunnen
?/. - c.769G>A r.(?) p.(Glu257Lys) Unknown - VUS g.10042688G>A g.9982630G>A NMNAT1(NM_001297778.1):c.769G>A (p.E257K), NMNAT1(NM_022787.3):c.769G>A (p.E257K, p.(Glu257Lys)) - NMNAT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.769G>A r.(?) p.(Glu257Lys) Unknown - pathogenic g.10042688G>A g.9982630G>A NMNAT1(NM_001297778.1):c.769G>A (p.E257K), NMNAT1(NM_022787.3):c.769G>A (p.E257K, p.(Glu257Lys)) - NMNAT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - likely pathogenic (recessive) g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - rs150726175 Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC05012 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
+?/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - likely pathogenic (recessive) g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC06499 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.769G>A r.(?) p.(Glu257Lys) Parent #1 - likely pathogenic g.10042688G>A - - - NMNAT1_000002 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.769G>A r.(?) p.(Glu257Lys) Unknown ACMG pathogenic g.10042688G>A - - - NMNAT1_000002 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
?/. - c.769G>A r.(?) p.(Glu257Lys) Parent #1 - VUS g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease EC03 PubMed: Zenteno 2020 single patient - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.769G>A r.(?) p.(Glu257Lys) Unknown - pathogenic (recessive) g.10042688G>A - 1:10042688G>A ENST00000377205.1:c.769G>A (Glu257Lys) - NMNAT1_000002 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G000976 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.769G>A r.(?) p.(Glu257Lys) Unknown - pathogenic (recessive) g.10042688G>A - 1:10042688G>A ENST00000377205.1:c.769G>A (Glu257Lys) - NMNAT1_000002 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005544 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Maternal (confirmed) - likely pathogenic (recessive) g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Thompson 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam1565 PubMed: Thompson 2017 - - - Australia - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Paternal (confirmed) - likely pathogenic (recessive) g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Thompson 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam1965 PubMed: Thompson 2017 - - - Australia - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Parent #1 - likely pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 413 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Parent #1 - likely pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 414 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Bravo-Gil 2016 - - Germline - - - - - DNA SEQ-NG - 64-gene panel retinal disease 157 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - 1 LOVD
+/. - c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic (recessive) g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-523-1075 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. - c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic (recessive) g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-520-1072 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Maternal (confirmed) - likely pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Coppieters 2014 - - Germline - - - - - DNA SEQ - WES retinal disease Fam13 PubMed: Coppieters 2014 see paper - - Tunisia - - - - - 1 LOVD
+?/. 5 c.769G>A r.(?) p.(Glu257Lys) Unknown - likely pathogenic (recessive) g.10042688G>A - c.769G>A - NMNAT1_000002 - PubMed: Neveling-2013 - - Germline - - - - - DNA SEQ-NG blood Exome Sequencing retinal disease - PubMed: Neveling-2013 - - - - - - - - - 1 Julia Lopez
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Unknown - pathogenic g.10042688G>A - c.769G.A - NMNAT1_000002 - PubMed: Corton-2013 - - Germline - - - - - DNA SEQ-NG blood WES retinal disease P-06-1075 PubMed: Corton-2013 - - no - Spanish - - - - 1 LOVD
?/. - c.769G>A r.(?) p.(Glu257Lys) Unknown ACMG VUS g.10042688G>A g.9982630G>A allele 1: c.12dup/p.E5Rfs*4, allele 2: c.769G>A/p.E257K - NMNAT1_000002 heterozygous PubMed: Weisschuh 2018 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 10 PubMed: Weisschuh 2018 - F - Germany - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Unknown - likely pathogenic g.10042688G>A g.9982630G>A NMNAT1 c.769G>A, p.Glu257Lys - NMNAT1_000002 Located at end of transcript, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2832_004417 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Parent #1 - likely pathogenic g.10042688G>A g.9982630G>A NMNAT1, variant 1: c.769G>A/p.E257K, variant 2: c.109G>A/p.G37R - NMNAT1_000002 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 346 PubMed: Weisschuh 2020 Filing key number: 117, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Parent #1 - likely pathogenic g.10042688G>A g.9982630G>A NMNAT1, variant 1: c.769G>A/p.E257K, variant 2: c.680G>A/p.R227Q - NMNAT1_000002 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 1060 PubMed: Weisschuh 2020 Filing key number: 661, cone-rod dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Parent #1 - likely pathogenic g.10042688G>A g.9982630G>A NMNAT1, variant 1: c.769G>A/p.E257K, variant 2: c.680G>A/p.R227Q - NMNAT1_000002 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 1061 PubMed: Weisschuh 2020 Filing key number: 661, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Parent #1 - likely pathogenic g.10042688G>A g.9982630G>A NMNAT1, variant 1: c.629T>C/p.I210T, variant 2: c.769G>A/p.E257K - NMNAT1_000002 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 306 PubMed: Weisschuh 2020 Filing key number: 102, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Parent #1 - likely pathogenic g.10042688G>A g.9982630G>A NMNAT1, variant 1: c.364del/p.R122Gfs*20, variant 2: c.769G>A/p.E257K - NMNAT1_000002 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 372 PubMed: Weisschuh 2020 Filing key number: 124, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Parent #1 - likely pathogenic g.10042688G>A g.9982630G>A NMNAT1, variant 1: c.199G>T/p.V67F, variant 2: c.769G>A/p.E257K - NMNAT1_000002 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 469 PubMed: Weisschuh 2020 Filing key number: 151, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.769G>A r.(?) p.(Glu257Lys) Unknown - pathogenic g.10042688G>A g.9982630G>A NMNAT1 gene:c.[769G?>?A]; [(769G?>?A)], p.[Glu257Lys]; [(Glu257Lys] - NMNAT1_000002 a deletion involving NMNAT1 gene was found, so most probably this mutation only appears homozygous and is on the other allele PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 16 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
+/. - c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A g.9982630G>A NMNAT1 gene:c.[619C?>?T]; [769G?>?A], p.[Arg207Tyr]; [Glu257Lys] - NMNAT1_000002 - PubMed: Ruberto 2020 - - Germline ? - - - - DNA SEQ-NG - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 1 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Unknown - likely pathogenic g.10042688G>A g.9982630G>A NMNAT1 c.769G>A, p.Glu257Lys - NMNAT1_000002 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing NDD G010761 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Unknown - likely pathogenic g.10042688G>A g.9982630G>A NMNAT1 c.769G>A, p.Glu257Lys - NMNAT1_000002 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G000976 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Unknown - likely pathogenic g.10042688G>A g.9982630G>A NMNAT1 c.769G>A, p.Glu257Lys - NMNAT1_000002 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005544 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.769G>A r.(?) p.(Glu257Lys) Unknown - VUS g.10042688G>A g.9982630G>A NMNAT1 nucleotide 1, protein 1:c.553T>C, p.Cys185Arg nucleotide 2, protein 2:c.769G>A, p.Glu257Lys - NMNAT1_000002 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 79 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Unknown ACMG likely pathogenic g.10042688G>A g.9982630G>A NMNAT1 c.769G>A; p.GIu257Lys - NMNAT1_000002 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 61 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Unknown ACMG likely pathogenic g.10042688G>A g.9982630G>A NMNAT1 c.769G>A; p.GIu257Lys - NMNAT1_000002 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 65 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Unknown ACMG likely pathogenic g.10042688G>A g.9982630G>A NMNAT1 c.769G>A; p.GIu257Lys - NMNAT1_000002 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 66 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Unknown ACMG likely pathogenic g.10042688G>A g.9982630G>A NMNAT1 c.769G>A; p.GIu257Lys - NMNAT1_000002 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 67 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. - c.769G>A r.(?) p.(Glu257Lys) Unknown ACMG likely pathogenic g.10042688G>A g.9982630G>A NMNAT1 c.769G>A; p.GIu257Lys - NMNAT1_000002 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 62 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. 5 c.769G>A r.(?) p.(Glu257Lys) Both (homozygous) - likely pathogenic (!) g.10042688G>A - p.Glu257Lys - NMNAT1_000002 hypomorphic variant that almost without exception causes LCA in combination with more severe NMNAT1 variants - - - Germline no - - - - DNA ? - - Healthy/Control II-1 PubMed: Siemiatkowska-2014 no ocular abnormalities F - - - - - - - 1 LOVD
+?/. 5 c.769G>A r.(?) p.(Glu257Lys) Both (homozygous) - likely pathogenic (!) g.10042688G>A - p.Glu257Lys - NMNAT1_000002 hypomorphic variant that almost without exception causes LCA in combination with more severe NMNAT1 variants - - - Germline no - - - - DNA ? - exome sequencing retinal disease II-4 PubMed: Siemiatkowska-2014 - M - - - - - - - 1 LOVD
+?/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #1 - likely pathogenic g.10042688G>A - c.769G>A (p.E257K) - NMNAT1_000002 - - - - Germline ? - - - - DNA SEQ, PCR peripheral blood - retinal disease 2 PubMed: Siemiatkowska-2014 - F - - German - - - - 1 LOVD
+?/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #1 - likely pathogenic g.10042688G>A - c.769G>A (p.E257K) - NMNAT1_000002 - - - - Germline yes - - - - DNA SEQ, PCR peripheral blood - retinal disease 3.1 PubMed: Siemiatkowska-2014 - M - - Dutch - - - - 1 LOVD
+?/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #1 - likely pathogenic g.10042688G>A - c.769G>A (p.E257K) - NMNAT1_000002 - - - - Germline yes - - - - DNA SEQ, PCR peripheral blood - retinal disease 3.2 PubMed: Siemiatkowska-2014 - F - - Dutch - - - - 1 LOVD
+?/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #1 - likely pathogenic g.10042688G>A - c.769G>A (p.E257K) - NMNAT1_000002 - - - - Germline yes - - - - DNA SEQ, PCR peripheral blood - retinal disease 4 PubMed: Siemiatkowska-2014 - M - - Danish - - - - 1 LOVD
+?/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #1 - likely pathogenic g.10042688G>A - c.769G>A (p.E257K) - NMNAT1_000002 - - - - Germline yes - - - - DNA SEQ, PCR peripheral blood - retinal disease 5 PubMed: Siemiatkowska-2014 - F - - German - - - - 1 LOVD
+?/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #1 - likely pathogenic g.10042688G>A - c.769G>A (p.E257K) - NMNAT1_000002 - - - - Germline yes - - - - DNA SEQ, PCR peripheral blood - retinal disease 6 PubMed: Siemiatkowska-2014 - M - - Dutch - - - - 1 LOVD
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic g.10042688G>A - c.[53 A > G];[769G > A] p.(Asn18Ser);(Glu257Lys). - NMNAT1_000002 - - - - Germline yes - - - - DNA SEQ blood - retinal disease Case 2 PubMed: Nash-2017 - F no - Caucasian - - - - 1 LOVD
+/. - c.769G>A r.(?) p.(Glu257Lys) Parent #2 ACMG pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070822 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.769G>A r.(?) p.(Glu257Lys) Unknown - pathogenic g.10042688G>A - NMNAT1(NM_001297778.1):c.769G>A (p.E257K), NMNAT1(NM_022787.3):c.769G>A (p.E257K, p.(Glu257Lys)) - NMNAT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.769G>A r.(?) p.(Glu257Lys) Unknown ACMG pathogenic g.10042688G>A - - - NMNAT1_000002 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-37134 rs150726175 Germline yes - - - - DNA SEQ-NG-I Buccal swab - LCA9 1546360 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - NONE 1 Rocio Villafuerte-de la Cruz
+/. - c.769G>A r.(?) p.(Glu257Lys) Parent #2 - pathogenic (recessive) g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: de Bruijn 2023 - - Germline - - - - - DNA SEQ-NG blood Published as WGS LCA 073584 PubMed: de Bruijn 2023 family, 3 affected - - - - - - - - 3 Suzanne de Bruijn
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Both (homozygous) ACMG pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 079823 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 ACMG pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067243 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 ACMG pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072099 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 5 c.769G>A r.(?) p.(Glu257Lys) Parent #2 ACMG pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072327 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.769G>A r.(?) p.(Glu257Lys) Unknown ACMG pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 070979 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.769G>A r.(?) p.(Glu257Lys) Unknown ACMG pathogenic g.10042688G>A g.9982630G>A - - NMNAT1_000002 no variant 2nd chromosome, case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 066825 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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