Full data view for gene NMNAT1

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

420 entries on 5 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     
-/. _1 c.-173G>C r.(=) p.(=) Both (homozygous) - benign g.10003457G>C g.9943399G>C - - NMNAT1_000061 - PubMed: Coppieters 2015 - - Germline - - - - - DNA SEQ-NG-I - - LCA9 26316326-F1 PubMed: Coppieters 2015 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes Niger - - - - - 3 Frauke Coppieters
+?/. 1 c.-70A>T r.(?) p.(=) Both (homozygous) - likely pathogenic g.10003560A>T g.9943502A>T - - NMNAT1_000015 reduced mRNA expression PubMed: Coppieters 2015 - - Germline yes - - - - DNA SEQ-NG-I - - LCA9 26316326-F1 PubMed: Coppieters 2015 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes Niger - - - - - 3 Frauke Coppieters
+?/. 1 c.-69C>T r.(?) p.(=) Both (homozygous) - likely pathogenic g.10003561C>T g.9943503C>T - - NMNAT1_000016 reduced RNA expression PubMed: Coppieters 2015 - - Germline yes - - - - DNA SEQ-NG-I - - LCA9 26316326-F2 PubMed: Coppieters 2015 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Morocco - - - - - 2 Frauke Coppieters
?/. 1 c.-69C>T r.(?) p.(?) Parent #1 ACMG VUS g.10003561C>T g.9943503C>T - - NMNAT1_000016 - 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
+/. 1 c.-57G>A r.[0,=|0.15] p.0,=] Parent #2 ACMG pathogenic (recessive) g.10003573G>A g.9943515G>A - - NMNAT1_000121 ACMG PVS1, PM2, PM3, PP3; RNA expression G allele 0.15 PubMed: Capasso 2025 - - Germline - - - - - DNA, protein RT-PCR, SEQ, SEQ-NG - - retinal degeneration Pat7 PubMed: Capasso 2025 - - - - - - - - - 1 Johan den Dunnen
+/. 1i c.-57+1del r.0 p.0 Parent #2 ACMG pathogenic (recessive) g.10003574del g.9943516del - - NMNAT1_000120 long-read RNA seq shows no RNA expression; ACMG PVS1, PM2, PM3, PP3 PubMed: Capasso 2025 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - retinal degeneration Pat6 PubMed: Capasso 2025 - - - - - - - - - 1 Susanne Roosing
+?/. - c.-57+7T>G r.spl? p.(?) Parent #1 - likely pathogenic (recessive) g.10003580T>G - - - NMNAT1_000084 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP023 PubMed: Huang 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.-57+21C>T r.(=) p.(=) Unknown ACMG VUS g.10003594C>T - - - NMNAT1_000094 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - LCA IR_SH_0004 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.-57+21C>T r.(=) p.(=) Unknown ACMG VUS g.10003594C>T - - - NMNAT1_000094 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - LCA - - - ? - - - - - - - 1 Jinu Han
?/. - c.-57+21C>T r.spl p.(?) Unknown ACMG VUS g.10003594C>T g.9943536C>T NMNAT1 c.-57+21C>T; p.? - NMNAT1_000094 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 64 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
?/. - c.-57+13340_440-315dup r.0? p.0? Unknown ACMG VUS g.10016913_10042044dup g.9956855_9981986dup - - NMNAT1_000118 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-925 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. 1i_2i c.-56-1803_115+262del r.? p.? Parent #1 - likely pathogenic (recessive) g.10030273_10032508del g.9970211_9972447del - - NMNAT1_000117 - PubMed: de Bruijn 2023 - - Germline yes - - - - DNA SEQ-NG blood Published as WGS LCA 073584 PubMed: de Bruijn 2023 family, 3 affected - - - - - - - - 3 Suzanne de Bruijn
+?/. - c.(-57+1_-56-1)_(115+1_116-1)del r.spl p.(?) Maternal (confirmed) ACMG likely pathogenic (recessive) g.? g.? Exon 2 deletion - NPHS2_000000 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 30 PubMed: Surl 2020 - F - Korea - - - - - 1 LOVD
+?/. _2_4_ c.(-57+1_-56-1)_(439+1_440-1)dup r.spl p.(?) Unknown ACMG likely pathogenic g.? g.? NMNAT1 Exon 2-4 duplication; p.* - NPHS2_000000 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
+?/. - c.(?_-1)_(115+1_116-1)del r.? p.? Unknown - pathogenic g.(?_10032131)_(10032247_10035649)del g.(?_9972073)_(9972189_9975591)del - - NMNAT1_000096 - - - - De novo - - - - - DNA SEQ-NG-I - - LCA IR_GH_0044 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.? r.0 p.0 Unknown - likely pathogenic g.9200001_12700000del g.9100001_12500000del CGH array deletion in Cr1p36.22 involving NMNAT1 gene, - MTHFR_000084 am apparent homozygous NMNAT1 mutation was found, probably 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
+/. 5 c.1A>G r.0? p.0? Parent #1 - pathogenic g.10032132A>G g.9972074A>G - - NMNAT1_000034 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 2 c.1A>G r.(?) p.(?) Maternal (confirmed) ACMG pathogenic g.10032132A>G g.9972074A>G c.1A>G - NMNAT1_000034 heterozygous, causative variant PubMed: Hosono 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood Targeted next-generation sequencing retinal disease EYE42 PubMed: Hosono 2018 proband, family EYE42 M no Japan Asian - - - - 1 LOVD
+?/. - c.12dup r.(?) p.(Glu5Argfs*4) Unknown ACMG likely pathogenic g.10032143dup g.9972085dup allele 1: c.12dup/p.E5Rfs*4, allele 2: c.769G>A/p.E257K - NMNAT1_000098 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
+/. 2 c.25G>A r.(?) p.(Val9Met) Both (homozygous) - pathogenic g.10032156G>A g.9972098G>A - - NMNAT1_000028 - PubMed: Falk 2012, Journal: Falk 2012 - - Germline yes - - - - DNA SEQ - - DFNB1A, LCA - PubMed: Falk 2012; Journal: Falk 2012 4-generation family seggregating LCA and hearing loss, 7 affecteds (2 LCA, 2 hearing loss, 3 both), unaffected heterozygous carrier parents/sibs - yes Pakistan - - - - - 7 Johan den Dunnen
+/. 2 c.25G>A r.(?) p.(Val9Met) Both (homozygous) - pathogenic g.10032156G>A g.9972098G>A - - NMNAT1_000028 - PubMed: Falk 2012, Journal: Falk 2012 - - Germline - - - - - DNA SEQ - - LCA9 - PubMed: Falk 2012, Journal: Falk 2012 - - - India - - - - - 1 Johan den Dunnen
+/. - c.25G>A r.(?) p.(Val9Met) Unknown - pathogenic g.10032156G>A - NMNAT1(NM_001297778.1):c.25G>A (p.V9M) - NMNAT1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.25G>A r.(?) p.(Val9Met) Both (homozygous) - pathogenic g.10032156G>A - c.25G>A (p.Val9Met) - NMNAT1_000028 - - - - Germline yes - - - - DNA SEQ, SEQ-NG blood Whole exome sequencing retinal disease Patient 1 (II.1) PubMed: Herdergott-2015 - F yes Pakistan Pakistani - - - - 1 LOVD
+/. 2 c.25G>A r.(?) p.(Val9Met) Both (homozygous) - pathogenic g.10032156G>A - c.25G>A (p.Val9Met) - NMNAT1_000028 - - - - Germline yes - - - - DNA SEQ blood - retinal disease Patient 2 (II.3) PubMed: Herdergott-2015 - F yes Pakistan Pakistani - - - - 1 LOVD
+/. - c.25G>A r.(?) p.(Val9Met) Both (homozygous) ACMG pathogenic (recessive) g.10032156G>A g.9972098G>A - - NMNAT1_000028 ACMG PM2, PM1, PP2, PP3, PP1, PP5 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs ? FamAPatIV4 PubMed: Basharat 2024 5-generation family, 6 affected (4F, 2M) M yes Pakistan - - - - - 6 Rabia Basharat
+/. - c.25G>A r.(?) p.(Val9Met) Both (homozygous) ACMG pathogenic (recessive) g.10032156G>A g.9972098G>A - - NMNAT1_000028 ACMG PM2, PM1, PP2, PP3, PP1, PP5 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs ? FamAPatV1 PubMed: Basharat 2024 niece F yes Pakistan - - - - - 1 Rabia Basharat
+/. - c.25G>A r.(?) p.(Val9Met) Both (homozygous) ACMG pathogenic (recessive) g.10032156G>A g.9972098G>A - - NMNAT1_000028 ACMG PM2, PM1, PP2, PP3, PP1, PP5 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs ? FamAPatV3 PubMed: Basharat 2024 daughter F yes Pakistan - - - - - 1 Rabia Basharat
+/. - c.25G>A r.(?) p.(Val9Met) Both (homozygous) ACMG pathogenic (recessive) g.10032156G>A g.9972098G>A - - NMNAT1_000028 ACMG PM2, PM1, PP2, PP3, PP1, PP5 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs ? FamAPatV6 PubMed: Basharat 2024 daughter F yes Pakistan - - - - - 1 Rabia Basharat
+/. - c.25G>A r.(?) p.(Val9Met) Both (homozygous) ACMG pathogenic (recessive) g.10032156G>A g.9972098G>A - - NMNAT1_000028 ACMG PM2, PM1, PP2, PP3, PP1, PP5 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs ? FamAPatV7 PubMed: Basharat 2024 daughter F yes Pakistan - - - - - 1 Rabia Basharat
+?/. - c.29T>G r.(?) p.(Val10Gly) Unknown ACMG VUS g.10032160T>G - - - NMNAT1_000095 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0185 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
?/. - c.33_35del r.(?) p.(Leu12del) Unknown - VUS g.10032164_10032166del - NMNAT1(NM_022787.4):c.33_35del (p.(Leu12del)) - NMNAT1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.37G>A r.(?) p.(Ala13Thr) Parent #1 - pathogenic g.10032168G>A g.9972110G>A - - NMNAT1_000025 - PubMed: Koenekoop 2012, Journal: Koenekoop 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012 - - - Haiti African >10y - - - 1 Johan den Dunnen
+/. 2 c.37G>A r.(?) p.(Ala13Thr) Parent #1 - pathogenic g.10032168G>A g.9972110G>A - - NMNAT1_000025 - PubMed: Falk 2012, Journal: Falk 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Falk 2012, Journal: Falk 2012 - - - United States Caribbean - - - - 1 Johan den Dunnen
+/. 2 c.37G>A r.(?) p.(Ala13Thr) Parent #1 - pathogenic g.10032168G>A g.9972110G>A - - NMNAT1_000025 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.37G>A r.(?) p.(Ala13Thr) Unknown - likely pathogenic g.10032168G>A g.9972110G>A - - NMNAT1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.37G>A r.(?) p.(Ala13Thr) Parent #2 - pathogenic (recessive) g.10032168G>A g.88062786A>C - - NMNAT1_000025 - PubMed: Porto 2017 - - Germline - - - - - DNA SEQ-NG - 300-gene panel retinal disease Fam20PatFBP_57 PubMed: Porto 2017 proband - - Brazil - - - - - 1 LOVD
+?/. - c.37G>A r.(?) p.(Ala13Thr) Both (homozygous) - likely pathogenic g.10032168G>A g.9972110G>A NMNAT1 c.[37G > A];[37G > A], p.[A13T];[A13T] - NMNAT1_000025 homozygous PubMed: Habibi 2020 - - Germline ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease F16_V.4 PubMed: Habibi 2020 Family F16, patient V.4 M - Tunisia - - - - - 1 LOVD
+?/. - c.37G>A r.(?) p.(Ala13Thr) Both (homozygous) - likely pathogenic g.10032168G>A g.9972110G>A NMNAT1 c.[37G > A];[37G > A], p.[A13T];[A13T] - NMNAT1_000025 homozygous PubMed: Habibi 2020 - - Germline ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease F16_V.1 PubMed: Habibi 2020 Family F16, patient V.1 F - Tunisia - - - - - 1 LOVD
?/. - c.37G>A r.(?) p.(Ala13Thr) Unknown ACMG VUS g.10032168G>A g.9972110G>A NMNAT1 c.37G>A; p.AIa13Thr - NMNAT1_000025 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 63 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. - c.43G>A r.(?) p.(Gly15Ser) Parent #1 - likely pathogenic g.10032174G>A g.9972116G>A c.G43A p.G15S - NMNAT1_000086 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam19 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - - - - 1 LOVD
+?/. 2 c.53A>G r.(?) p.(Asn18Ser) Both (homozygous) - likely pathogenic g.10032184A>G g.9972126A>G - - NMNAT1_000003 not in 202 control chromosomes - - - Germline no - - - - DNA SEQ-NG-I Blood - LCA9 - - 2-generation family, 1 affected and unaffected heterozygous carrier parents M yes India South India - - - - 1 Soumittra Nagasamy
?/. 2 c.53A>G r.(?) p.(Asn18Ser) Unknown - VUS g.10032184A>G g.9972126A>G - - NMNAT1_000003 - PubMed: Coppieters 2015 - - Unknown ? - - - - DNA SEQ - - LCA9 - - - ? ? - - - - - - 1 Frauke Coppieters
+?/. - c.53A>G r.(?) p.(Asn18Ser) Parent #1 - likely pathogenic (recessive) g.10032184A>G g.9972126A>G - - NMNAT1_000003 - PubMed: DiIorio 2017 - - Germline - - - - - DNA SEQ-NG - 150-gene panel retinal disease Pat27 PubMed: Di Iorio 2017 - - - Italy - - - - - 1 LOVD
+/. - c.53A>G r.(?) p.(Asn18Ser) Both (homozygous) - pathogenic (recessive) g.10032184A>G g.9972126A>G - - NMNAT1_000003 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-535-1092 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+?/. 2 c.53A>G r.(?) p.(Asn18Ser) Parent #1 - likely pathogenic g.10032184A>G - c.53A>G (p.N18S) - NMNAT1_000003 - - - - Germline ? - - - - DNA SEQ, PCR peripheral blood - retinal disease 1 PubMed: Siemiatkowska-2014 - M - - German / French - - - - 1 LOVD
+/. 2 c.53A>G r.(?) p.(Asn18Ser) Parent #1 - pathogenic g.10032184A>G - c.[53 A > G];[769G > A] p.(Asn18Ser);(Glu257Lys). - NMNAT1_000003 - - - - Germline yes - - - - DNA SEQ blood - retinal disease Case 2 PubMed: Nash-2017 - F no - Caucasian - - - - 1 LOVD
+/. 2 c.53A>G r.(?) p.(Asn18Ser) Parent #1 ACMG pathogenic g.10032184A>G g.9972126A>G - - NMNAT1_000003 - 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
+?/. 2 c.54T>A r.(?) p.(Asn18Lys) Parent #1 - likely pathogenic g.10032185T>A - c.54T>A - NMNAT1_000114 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.58A>G r.(?) p.(Ile20Val) Unknown - VUS g.10032189A>G - NMNAT1(NM_022787.4):c.58A>G (p.(Ile20Val)) - NMNAT1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.59T>A r.(?) p.(Ile20Asn) Parent #1 - pathogenic g.10032190T>A g.9972132T>A - - NMNAT1_000035 - PubMed: Falk 2012, Journal: Falk 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Falk 2012, Journal: Falk 2012 - - - United States Polish - - - - 1 Johan den Dunnen
+?/. 2 c.59T>A r.(?) p.(Ile20Asn) Unknown - likely pathogenic g.10032190T>A - c.59T>A (p.Ile20Asn) - NMNAT1_000035 - PubMed: SkorczykWerner-2020 - - Germline - - - - - DNA arraySNP, SEQ-NG - - retinal disease - PubMed: SkorczykWerner 2020 - F - - Polish - - - - 1 LOVD
+?/. - c.65A>G r.(?) p.(Asn22Ser) Parent #2 - likely pathogenic g.10032196A>G g.9972138A>G - - NMNAT1_000082 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 414 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
?/. 2 c.65A>G r.(?) p.(Asn22Ser) Unknown - VUS g.10032196A>G - c.65A>G (p.(Asn22Ser)) - NMNAT1_000082 - PubMed: SkorczykWerner-2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: SkorczykWerner 2020 - M - - Polish - - - - 1 LOVD
-?/. - c.66C>T r.(?) p.(Asn22=) Unknown - likely benign g.10032197C>T - NMNAT1(NM_001297778.1):c.66C>T (p.N22=) - NMNAT1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78G>A r.(?) p.(Arg26=) Unknown - likely benign g.10032209G>A g.9972151G>A NMNAT1(NM_001297778.1):c.78G>A (p.R26=) - NMNAT1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.103A>G r.(?) p.(Met35Val) Parent #1 - likely pathogenic g.10032234A>G g.9972176A>G - - NMNAT1_000083 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 400 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. 3 c.104T>C r.(?) p.(Met35Thr) Paternal (confirmed) - pathogenic g.10032235T>C g.9972177T>C - - NMNAT1_000036 - PubMed: Chiang 2012, Journal: Chiang 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - United States European - - - - 1 Johan den Dunnen
+/. 3 c.104T>C r.(?) p.(Met35Thr) Paternal (confirmed) - pathogenic g.10032235T>C g.9972177T>C - - NMNAT1_000036 - PubMed: Chiang 2012, Journal: Chiang 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - United States European - - - - 1 Johan den Dunnen
+?/. 2 c.109G>A r.(?) p.(Gly37Arg) Both (homozygous) - likely pathogenic g.10032240G>A g.9972182G>A - - NMNAT1_000012 not in 204 control chromosomes - - - Germline yes - - - - DNA SEQ-NG-I Blood - LCA9 - - 2-generation family, patient and unaffected heterozygous carrier parents F no India North India - - - - 1 Soumittra Nagasamy
+?/. - c.109G>A r.(?) p.(Gly37Arg) Parent #1 - likely pathogenic g.10032240G>A g.9972182G>A NMNAT1, variant 1: c.769G>A/p.E257K, variant 2: c.109G>A/p.G37R - NMNAT1_000012 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.115+3A>G r.spl? p.? Unknown - benign g.10032249A>G g.9972191A>G NMNAT1(NM_001297778.1):c.115+3A>G, NMNAT1(NM_022787.4):c.115+3A>G - NMNAT1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.115+3A>G r.spl? p.? Unknown - likely benign g.10032249A>G g.9972191A>G NMNAT1(NM_001297778.1):c.115+3A>G, NMNAT1(NM_022787.4):c.115+3A>G - NMNAT1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.115+3A>G r.spl? p.? Unknown - likely benign g.10032249A>G - NMNAT1(NM_001297778.1):c.115+3A>G, NMNAT1(NM_022787.4):c.115+3A>G - NMNAT1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.115+40_115+41ins[G;NC_000006.12:g.122849419_122850290inv] r.[115_116ins[NC_000006.12:g.123170563_123171435inv],=] p.[Tyr41Ser*57,=] Parent #1 - pathogenic (recessive) g.10032286_10032287ins[G;NC_000006.12:g.123168921_123171435inv;A[38];GACTAGAGAACC] g.9972228_9972229ins[G;NC_000006.12:g.122847777_122850290inv;A[38];GACTAGAGAACC] - - NMNAT1_000122 - PubMed: Capasso 2025 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG blood WES, targeted long-read cDNA sequencing retinal disease Pat8 PubMed: Capasso 2025 - M - Italy white - - - - 1 Susanne Roosing
+/. 2i c.115+40_115+41ins[G;NC_000006.12:g.122849419_122850290inv] r.[115_116ins[NC_000006.12:g.123170563_123171435inv],=] p.[Tyr41Ser*57,=] Parent #1 - pathogenic (recessive) g.10032286_10032287ins[G;NC_000006.12:g.123168921_123171435inv;A[38];GACTAGAGAACC] g.9972228_9972229ins[G;NC_000006.12:g.122847777_122850290inv;A[38];GACTAGAGAACC] - - NMNAT1_000122 - PubMed: Capasso 2025 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG blood targeted long-read cDNA sequencing, long-read WGS retinal disease Pat9 PubMed: Capasso 2025 - M - Italy white - - - - 1 Susanne Roosing
+/. 2i c.115+40_115+41ins[G;NC_000006.12:g.122849419_122850290inv] r.[115_116ins[NC_000006.12:g.123170563_123171435inv],=] p.[Tyr41Ser*57,=] Parent #1 - pathogenic (recessive) g.10032286_10032287ins[G;NC_000006.12:g.123168921_123171435inv;A[38];GACTAGAGAACC] g.9972228_9972229ins[G;NC_000006.12:g.122847777_122850290inv;A[38];GACTAGAGAACC] - - NMNAT1_000122 - PubMed: Capasso 2025 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG blood WES, targeted long-read cDNA sequencing retinal disease Pat10 PubMed: Capasso 2025 - F - Italy white - - - - 1 Susanne Roosing
+/. 2i c.115+40_115+41ins[G;NC_000006.12:g.122849419_122850290inv] r.[115_116ins[NC_000006.12:g.123170563_123171435inv],=] p.[Tyr41Ser*57,=] Parent #1 - pathogenic (recessive) g.10032286_10032287ins[G;NC_000006.12:g.123168921_123171435inv;A[38];GACTAGAGAACC] g.9972228_9972229ins[G;NC_000006.12:g.122847777_122850290inv;A[38];GACTAGAGAACC] - - NMNAT1_000122 - PubMed: Capasso 2025 - - Germline - - - - - DNA SEQ, MIPsm blood - retinal disease 078281 PubMed: Capasso 2025 - M - Italy white - - - - 1 Susanne Roosing
-/. 21 c.115+354A>G r.(?) p.(=) Both (homozygous) - benign g.10032600A>G g.9972542A>G - - NMNAT1_000062 - PubMed: Coppieters 2015 - - Germline - - - - - DNA SEQ-NG-I - - LCA9 26316326-F1 PubMed: Coppieters 2015 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes Niger - - - - - 3 Frauke Coppieters
-/. 2i c.116-177T>C r.(?) p.(=) Both (homozygous) - benign g.10035473T>C g.9975415T>C - - NMNAT1_000063 - PubMed: Coppieters 2015 - - Germline - - - - - DNA SEQ-NG-I - - LCA9 26316326-F1 PubMed: Coppieters 2015 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes Niger - - - - - 3 Frauke Coppieters
?/. - c.116-2A>G r.spl p.? Parent #1 - VUS g.10035648A>G g.9975590A>G - - NMNAT1_000091 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 94 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+/. - c.116-2A>G r.spl p.? Unknown ACMG pathogenic g.10035648A>G g.9975590A>G NMNAT1 c.116-2A>G, . - NMNAT1_000091 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 52 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. - c.(115+1_116-1)_(299+1_300-1)del r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.(10032247_10035649)_(10035834_10041088)del g.(9972189_9975591)_(9975776_9981030)del 116_299del - NMNAT1_000072 - - - - Germline - - - - - DNA SEQ-NG blood WES LCA - - - F no Korea - - - - - 1 Jinu Han
+?/. 2i_3i c.(115+1_116-1)_(299+1_300-1)del r.? p.? Parent #1 - likely pathogenic g.(10032247_10035649)_(10035834_10041088)del g.(9972189_9975591)_(9975776_9981030)del del ex3 - NMNAT1_000099 - PubMed: Ellingford 2017, PubMed: Ellingsford 2018 - - Germline yes - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 15005008 PubMed: Ellingford 2017, PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.155G>T r.(?) p.(Gly52Val) Unknown - pathogenic (recessive) g.10035689G>T - 1:10035689G>T ENST00000377205.1:c.155G>T (Gly52Val) - NMNAT1_000077 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001280 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.155G>T r.(?) p.(Gly52Val) Unknown - likely pathogenic g.10035689G>T g.9975631G>T NMNAT1 c.155G>T, p.Gly52Val - NMNAT1_000077 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001280 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 3 c.155G>T r.(?) p.(Gly52Val) Parent #1 ACMG likely pathogenic g.10035689G>T g.9975631G>T - - NMNAT1_000077 - 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
+/. 3 c.161C>T r.(?) p.(Ala54Val) Parent #1 - pathogenic g.10035695C>T g.9975637C>T - - NMNAT1_000037 - PubMed: Falk 2012, Journal: Falk 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Falk 2012, Journal: Falk 2012 - - - United States Caribbean, Sri Lankan - - - - 1 Johan den Dunnen
?/. - c.166A>G r.(?) p.(Lys56Glu) Unknown - VUS g.10035700A>G g.9975642A>G NMNAT1(NM_001297778.1):c.166A>G (p.K56E) - NMNAT1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.179_180insA r.(?) p.(Ile61Hisfs*18) Unknown ACMG pathogenic g.10035713_10035714insA g.9975655_9975656insA NM_022787.3:c.179_180insA, NP_073624.2:p.(Ile61HisfsTer18), NC_000001.10:g.10035713_10035714insA - NMNAT1_000097 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016121212 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+?/. 3 c.179_180insA r.(?) p.(Ile61Hisfs*18) Unknown - likely pathogenic (recessive) g.10035713_10035714insA - c.179_180insA - NMNAT1_000097 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 3 c.193C>T r.(?) p.(His65Tyr) Both (homozygous) - likely pathogenic g.10035727C>T - c.193C>T - NMNAT1_000115 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 3 c.196C>T r.(?) p.(Arg66Trp) Maternal (confirmed) - pathogenic g.10035730C>T g.9975672C>T - - NMNAT1_000029 - 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/sister F no United States Asian - - - - 1 Johan den Dunnen
+/. - c.196C>T r.(?) p.(Arg66Trp) Unknown - pathogenic g.10035730C>T g.9975672C>T - - NMNAT1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3/5 c.196C>T r.(?) p.(Arg66Trp) Paternal (confirmed) - pathogenic (recessive) g.10035730C>T g.9975672C>T - - NMNAT1_000029 - - - - Germline yes - - - - DNA SEQ-NG blood Targeted gene panel LCA - - - M no Korea - - - - - 1 Jinu Han
+?/. 3/5 c.196C>T r.(?) p.(Arg66Trp) Maternal (confirmed) - likely pathogenic (recessive) g.10035730C>T g.9975672C>T - - NMNAT1_000029 - - - - Germline yes - - - - DNA SEQ-NG blood WES LCA - - - M no Korea - - - - - 1 Jinu Han
+?/. 3/5 c.196C>T r.(?) p.(Arg66Trp) Paternal (confirmed) - likely pathogenic (recessive) g.10035730C>T g.9975672C>T - - NMNAT1_000029 - - - - Germline yes - - - - DNA SEQ-NG blood WES LCA - - - M no Korea - - - - - 1 Jinu Han
+?/. 3/5 c.196C>T r.(?) p.(Arg66Trp) Maternal (confirmed) - likely pathogenic (recessive) g.10035730C>T g.9975672C>T - - NMNAT1_000029 - - - - Germline yes - - - - DNA SEQ-NG blood Targeted gene panel LCA - - - F no Korea - - - - - 1 Jinu Han
+?/. 3/5 c.196C>T r.(?) p.(Arg66Trp) Maternal (confirmed) - likely pathogenic (recessive) g.10035730C>T g.9975672C>T - - NMNAT1_000029 - - - - Germline yes - - - - DNA SEQ-NG blood Targeted gene panel LCA - - - M no Korea - - - - - 1 Jinu Han
+?/. 3/5 c.196C>T r.(?) p.(Arg66Trp) Maternal (confirmed) - likely pathogenic (recessive) g.10035730C>T g.9975672C>T - - NMNAT1_000029 - - - - Germline yes - - - - DNA SEQ-NG blood Targeted gene panel LCA - - - F no Korea - - - - - 1 Jinu Han
+/. - c.196C>T r.(?) p.(Arg66Trp) Paternal (confirmed) - pathogenic (recessive) g.10035730C>T g.9975672C>T - - NMNAT1_000029 - PubMed: Han 2017, PubMed: Rim 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat5;Pat6;Pat6 PubMed: Han 2017, PubMed: Rim 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Korea - - - - - 1 LOVD
+/. - c.196C>T r.(?) p.(Arg66Trp) Paternal (confirmed) - pathogenic (recessive) g.10035730C>T g.9975672C>T - - NMNAT1_000029 - PubMed: Han 2017, PubMed: Rim 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat4;Pat7;Pat7 PubMed: Han 2017, PubMed: Rim 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea - - - - - 1 LOVD
+/. 3 c.196C>T r.(?) p.(Arg66Trp) Maternal (confirmed) ACMG pathogenic g.10035730C>T g.9975672C>T c.196C>T - NMNAT1_000029 heterozygous, causative variant PubMed: Hosono 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood Targeted next-generation sequencing retinal disease EYE159 PubMed: Hosono 2018 proband, family EYE159 M no Japan Asian - - - - 1 LOVD
+/. 3 c.196C>T r.(?) p.(Arg66Trp) Paternal (confirmed) ACMG pathogenic g.10035730C>T g.9975672C>T c.196C>T - NMNAT1_000029 heterozygous, causative variant PubMed: Hosono 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood Targeted next-generation sequencing retinal disease S132 PubMed: Hosono 2018 proband, family S132 F no Japan Asian - - - - 1 LOVD
+?/. - c.196C>T r.(?) p.(Arg66Trp) Unknown - VUS g.10035730C>T - - - NMNAT1_000029 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - LCA IR_SH_0040 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.196C>T r.(?) p.(Arg66Trp) Unknown ACMG VUS g.10035730C>T - - - NMNAT1_000029 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - LCA IR_GH_0014 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.196C>T r.(?) p.(Arg66Trp) Parent #1 ACMG pathogenic g.10035730C>T g.9975672C>T NMNAT1 NM_022787: g.32245C>T, c.196C>T, p.R66W - NMNAT1_000029 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 191109 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+/. - c.196C>T r.(?) p.(Arg66Trp) Paternal (confirmed) ACMG pathogenic (recessive) g.10035730C>T g.9975672C>T c.196C>T:p.(Arg66Trp) - NMNAT1_000029 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 23 PubMed: Surl 2020 - M - Korea - - - - - 1 LOVD
+?/. - c.196C>T r.(?) p.(Arg66Trp) Maternal (confirmed) ACMG likely pathogenic (recessive) g.10035730C>T g.9975672C>T c.196C>T:p.(Arg66Trp) - NMNAT1_000029 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 24 PubMed: Surl 2020 - M - Korea - - - - - 1 LOVD
+?/. - c.196C>T r.(?) p.(Arg66Trp) Paternal (confirmed) ACMG likely pathogenic (recessive) g.10035730C>T g.9975672C>T c.196C>T:p.(Arg66Trp) - NMNAT1_000029 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 25 PubMed: Surl 2020 - M - Korea - - - - - 1 LOVD
+?/. - c.196C>T r.(?) p.(Arg66Trp) Maternal (confirmed) ACMG likely pathogenic (recessive) g.10035730C>T g.9975672C>T c.196C>T:p.(Arg66Trp) - NMNAT1_000029 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 26 PubMed: Surl 2020 individual previously described in PMID:29145603, PMID:28966547 - possible duplicate in the database F - Korea - - - - - 1 LOVD
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